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    SEPTIN2 septin 2 [ Homo sapiens (human) ]

    Gene ID: 4735, updated on 3-Dec-2024

    Summary

    Official Symbol
    SEPTIN2provided by HGNC
    Official Full Name
    septin 2provided by HGNC
    Primary source
    HGNC:HGNC:7729
    See related
    Ensembl:ENSG00000168385 MIM:601506; AllianceGenome:HGNC:7729
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DIFF6; NEDD5; SEPT2; NEDD-5; Pnutl3; hNedd5; Septin-2
    Summary
    Enables identical protein binding activity. Predicted to be involved in several processes, including cilium assembly; regulation of exocytosis; and smoothened signaling pathway. Predicted to act upstream of or within regulation of L-glutamate import across plasma membrane and regulation of protein localization. Located in several cellular components, including cytoskeleton; photoreceptor connecting cilium; and sperm annulus. Part of septin complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in fat (RPKM 77.8), thyroid (RPKM 76.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SEPTIN2 in Genome Data Viewer
    Location:
    2q37.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (241315355..241354027)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (241814341..241852889)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (242254770..242293442)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene anoctamin 7 Neighboring gene uncharacterized LOC105376810 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:242175313-242175524 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:242189957-242190163 Neighboring gene high density lipoprotein binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17421 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12533 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12534 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:242220649-242221149 Neighboring gene HDLBP antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242248819-242249320 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17422 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12535 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17423 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17424 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242255088-242255812 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242255813-242256537 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12537 Neighboring gene uncharacterized LOC105373973 Neighboring gene FERM, ARH/RhoGEF and pleckstrin domain protein 2 Neighboring gene Sharpr-MPRA regulatory region 5168 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242386413-242387062 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242407765-242408327 Neighboring gene microRNA 3133

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0158

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cadherin binding HDA PubMed 
    enables enzyme regulator activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables molecular adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cytoskeleton-dependent cytokinesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of L-glutamate import across plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of protein localization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with cell cortex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in cell division site IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    located_in ciliary membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cleavage furrow IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in intercellular bridge IDA
    Inferred from Direct Assay
    more info
     
    located_in kinetochore IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in microtubule cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in midbody IEA
    Inferred from Electronic Annotation
    more info
     
    located_in non-motile cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in photoreceptor connecting cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    part_of septin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of septin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in septin ring IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in sperm annulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in spindle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    septin-2
    Names
    epididymis secretory sperm binding protein
    neural precursor cell expressed, developmentally down-regulated 5

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001008491.3NP_001008491.1  septin-2 isoform a

      See identical proteins and their annotated locations for NP_001008491.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform a. Variants 1-4, 8-13, and 16-18 encode the same isoform (a).
      Source sequence(s)
      AA482233, BC014455, BX648000, D63878
      Consensus CDS
      CCDS2548.1
      UniProtKB/Swiss-Prot
      B4DGE8, Q14132, Q15019, Q53QU3, Q8IUK9, Q96CB0
      Related
      ENSP00000353157.3, ENST00000360051.7
      Conserved Domains (1) summary
      pfam00735
      Location:35306
      Septin
    2. NM_001008492.3NP_001008492.1  septin-2 isoform a

      See identical proteins and their annotated locations for NP_001008492.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-4, 8-13, and 16-18 encode the same isoform (a).
      Source sequence(s)
      AA482233, BX648000, D63878, DB091579
      Consensus CDS
      CCDS2548.1
      UniProtKB/Swiss-Prot
      B4DGE8, Q14132, Q15019, Q53QU3, Q8IUK9, Q96CB0
      Related
      ENSP00000385172.2, ENST00000402092.6
      Conserved Domains (1) summary
      pfam00735
      Location:35306
      Septin
    3. NM_001282972.2NP_001269901.1  septin-2 isoform b

      See identical proteins and their annotated locations for NP_001269901.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a longer and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AA482233, AK294563, BX648000, D63878, DB091579
      Consensus CDS
      CCDS74682.1
      UniProtKB/Swiss-Prot
      Q15019
      Related
      ENSP00000479861.1, ENST00000616972.4
      Conserved Domains (2) summary
      COG5019
      Location:50369
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      pfam00735
      Location:69341
      Septin; Septin
    4. NM_001282973.2NP_001269902.1  septin-2 isoform c

      See identical proteins and their annotated locations for NP_001269902.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and contains an alternate in-frame exon in the coding region, compared to variant 1. The encoded isoform (c) is longer than isoform a. Variants 6 and 15 encode the same isoform (c).
      Source sequence(s)
      AA482233, BC014455, BC033559, BX648000
      Consensus CDS
      CCDS63195.1
      UniProtKB/TrEMBL
      A0A384N6H6
      Related
      ENSP00000385109.1, ENST00000401990.5
      Conserved Domains (1) summary
      pfam00735
      Location:35316
      Septin; Septin
    5. NM_001321029.2NP_001307958.1  septin-2 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR and the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (d) has a longer and distinct N-terminus compared to isoform a.
      Source sequence(s)
      BC033559, BX648000, D63878, R38654
      UniProtKB/Swiss-Prot
      Q15019
      Conserved Domains (2) summary
      COG5019
      Location:45362
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      pfam00735
      Location:64336
      Septin; Septin
    6. NM_001321030.3NP_001307959.1  septin-2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1. Variants 1-4, 8-13, and 16-18 encode the same isoform (a).
      Source sequence(s)
      BX648000, D63878, DA544741, DB224668, R38654
      Consensus CDS
      CCDS2548.1
      UniProtKB/Swiss-Prot
      B4DGE8, Q14132, Q15019, Q53QU3, Q8IUK9, Q96CB0
      Conserved Domains (1) summary
      pfam00735
      Location:35306
      Septin
    7. NM_001321031.2NP_001307960.1  septin-2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR compared to variant 1. Variants 1-4, 8-13, and 16-18 encode the same isoform (a).
      Source sequence(s)
      BX648000, D63878, DA444624, R38654
      Consensus CDS
      CCDS2548.1
      UniProtKB/Swiss-Prot
      B4DGE8, Q14132, Q15019, Q53QU3, Q8IUK9, Q96CB0
      Conserved Domains (1) summary
      pfam00735
      Location:35306
      Septin
    8. NM_001321032.2NP_001307961.1  septin-2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10) differs in the 5' UTR compared to variant 1. Variants 1-4, 8-13, and 16-18 encode the same isoform (a).
      Source sequence(s)
      BX648000, CN282754, D63878, DB091579, R38654
      Consensus CDS
      CCDS2548.1
      UniProtKB/Swiss-Prot
      B4DGE8, Q14132, Q15019, Q53QU3, Q8IUK9, Q96CB0
      Conserved Domains (1) summary
      pfam00735
      Location:35306
      Septin
    9. NM_001321033.3NP_001307962.1  septin-2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11) differs in the 5' UTR compared to variant 1. Variants 1-4, 8-13, and 16-18 encode the same isoform (a).
      Source sequence(s)
      AC104841, BX648000, D63878, DB224668, HY043466, R38654
      Consensus CDS
      CCDS2548.1
      UniProtKB/Swiss-Prot
      B4DGE8, Q14132, Q15019, Q53QU3, Q8IUK9, Q96CB0
      Conserved Domains (1) summary
      pfam00735
      Location:35306
      Septin
    10. NM_001321034.2NP_001307963.1  septin-2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12) differs in the 5' UTR compared to variant 1. Variants 1-4, 8-13, and 16-18 encode the same isoform (a).
      Source sequence(s)
      BX648000, D63878, DB091579, DB277926, R38654
      Consensus CDS
      CCDS2548.1
      UniProtKB/Swiss-Prot
      B4DGE8, Q14132, Q15019, Q53QU3, Q8IUK9, Q96CB0
      Conserved Domains (1) summary
      pfam00735
      Location:35306
      Septin
    11. NM_001321035.2NP_001307964.1  septin-2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (13) differs in the 5' UTR compared to variant 1. Variants 1-4, 8-13, and 16-18 encode the same isoform (a).
      Source sequence(s)
      BX648000, CN282712, D63878, DB091579, R38654
      Consensus CDS
      CCDS2548.1
      UniProtKB/Swiss-Prot
      B4DGE8, Q14132, Q15019, Q53QU3, Q8IUK9, Q96CB0
      Conserved Domains (1) summary
      pfam00735
      Location:35306
      Septin
    12. NM_001349287.2NP_001336216.1  septin-2 isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (14) differs in the 5' UTR and the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (e) has a longer and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AC005104, AC104841, R38654
      Conserved Domains (1) summary
      pfam00735
      Location:90361
      Septin
    13. NM_001349288.2NP_001336217.1  septin-2 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (15) differs in the 5' UTR and contains an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (c) is longer than isoform a. Variants 6 and 15 encode the same isoform (c).
      Source sequence(s)
      AC005104, AC104841, R38654
      Consensus CDS
      CCDS63195.1
      UniProtKB/TrEMBL
      A0A384N6H6
      Conserved Domains (1) summary
      pfam00735
      Location:35316
      Septin; Septin
    14. NM_001349289.2NP_001336218.1  septin-2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (16) differs in the 5' UTR compared to variant 1. Variants 1-4, 8-13, and 16-18 encode the same isoform (a).
      Source sequence(s)
      AC005104, AC104841, R38654
      Consensus CDS
      CCDS2548.1
      UniProtKB/Swiss-Prot
      B4DGE8, Q14132, Q15019, Q53QU3, Q8IUK9, Q96CB0
      Conserved Domains (1) summary
      pfam00735
      Location:35306
      Septin
    15. NM_001349290.2NP_001336219.1  septin-2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (17) differs in the 5' UTR compared to variant 1. Variants 1-4, 8-13, and 16-18 encode the same isoform (a).
      Source sequence(s)
      AC005104, AC104841, R38654
      Consensus CDS
      CCDS2548.1
      UniProtKB/Swiss-Prot
      B4DGE8, Q14132, Q15019, Q53QU3, Q8IUK9, Q96CB0
      Conserved Domains (1) summary
      pfam00735
      Location:35306
      Septin
    16. NM_001349291.2NP_001336220.1  septin-2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (18) differs in the 5' UTR compared to variant 1. Variants 1-4, 8-13, and 16-18 encode the same isoform (a).
      Source sequence(s)
      AC005104, AC104841, R38654
      Consensus CDS
      CCDS2548.1
      UniProtKB/Swiss-Prot
      B4DGE8, Q14132, Q15019, Q53QU3, Q8IUK9, Q96CB0
      Conserved Domains (1) summary
      pfam00735
      Location:35306
      Septin
    17. NM_001349302.2NP_001336231.1  septin-2 isoform f

      Status: VALIDATED

      Description
      Transcript Variant: This variant (19) differs in the 5' UTR and the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (f) has a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AC005104, AC104841, R38654
      Conserved Domains (1) summary
      pfam00735
      Location:35303
      Septin
    18. NM_001349304.2NP_001336233.1  septin-2 isoform g

      Status: VALIDATED

      Description
      Transcript Variant: This variant (20) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (g) has a shorter N-terminus compared to isoform a. Variants 20-22 encode the same isoform (g).
      Source sequence(s)
      AC005104, AC104841, R38654
      Consensus CDS
      CCDS86930.1
      UniProtKB/TrEMBL
      B5MCX3
      Related
      ENSP00000384525.1, ENST00000407971.5
      Conserved Domains (1) summary
      pfam00735
      Location:1266
      Septin
    19. NM_001349305.2NP_001336234.1  septin-2 isoform g

      Status: VALIDATED

      Description
      Transcript Variant: This variant (21) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (g) has a shorter N-terminus compared to isoform a. Variants 20-22 encode the same isoform (g).
      Source sequence(s)
      AC005104, AC104841, R38654
      Consensus CDS
      CCDS86930.1
      UniProtKB/TrEMBL
      B5MCX3
      Conserved Domains (1) summary
      pfam00735
      Location:1266
      Septin
    20. NM_001349306.2NP_001336235.1  septin-2 isoform g

      Status: VALIDATED

      Description
      Transcript Variant: This variant (22) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (g) has a shorter N-terminus compared to isoform a. Variants 20-22 encode the same isoform (g).
      Source sequence(s)
      AC005104, AC104841, R38654
      Consensus CDS
      CCDS86930.1
      UniProtKB/TrEMBL
      B5MCX3
      Conserved Domains (1) summary
      pfam00735
      Location:1266
      Septin
    21. NM_001349307.2NP_001336236.1  septin-2 isoform h

      Status: VALIDATED

      Description
      Transcript Variant: This variant (23) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (h) has a shorter N-terminus compared to isoform a. Variants 23-31 encode the same isoform (h).
      Source sequence(s)
      AC005104, AC104841, R38654
      UniProtKB/TrEMBL
      H7C2Y0
      Conserved Domains (1) summary
      cl40481
      Location:1139
      YlqF_related_GTPase; Circularly permuted YlqF-related GTPases
    22. NM_001349308.2NP_001336237.1  septin-2 isoform h

      Status: VALIDATED

      Description
      Transcript Variant: This variant (24) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (h) has a shorter N-terminus compared to isoform a. Variants 23-31 encode the same isoform (h).
      Source sequence(s)
      AC005104, AC104841, R38654
      UniProtKB/TrEMBL
      H7C2Y0
      Conserved Domains (1) summary
      cl40481
      Location:1139
      YlqF_related_GTPase; Circularly permuted YlqF-related GTPases
    23. NM_001349309.2NP_001336238.1  septin-2 isoform h

      Status: VALIDATED

      Description
      Transcript Variant: This variant (25) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (h) has a shorter N-terminus compared to isoform a. Variants 23-31 encode the same isoform (h).
      Source sequence(s)
      AC005104, AC104841, R38654
      UniProtKB/TrEMBL
      H7C2Y0
      Conserved Domains (1) summary
      cl40481
      Location:1139
      YlqF_related_GTPase; Circularly permuted YlqF-related GTPases
    24. NM_001349310.2NP_001336239.1  septin-2 isoform h

      Status: VALIDATED

      Description
      Transcript Variant: This variant (26) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (h) has a shorter N-terminus compared to isoform a. Variants 23-31 encode the same isoform (h).
      Source sequence(s)
      AC005104, AC104841, R38654
      UniProtKB/TrEMBL
      H7C2Y0
      Conserved Domains (1) summary
      cl40481
      Location:1139
      YlqF_related_GTPase; Circularly permuted YlqF-related GTPases
    25. NM_001349311.2NP_001336240.1  septin-2 isoform h

      Status: VALIDATED

      Description
      Transcript Variant: This variant (27) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (h) has a shorter N-terminus compared to isoform a. Variants 23-31 encode the same isoform (h).
      Source sequence(s)
      AC005104, AC104841, R38654
      UniProtKB/TrEMBL
      H7C2Y0
      Conserved Domains (1) summary
      cl40481
      Location:1139
      YlqF_related_GTPase; Circularly permuted YlqF-related GTPases
    26. NM_001349312.2NP_001336241.1  septin-2 isoform h

      Status: VALIDATED

      Description
      Transcript Variant: This variant (28) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (h) has a shorter N-terminus compared to isoform a. Variants 23-31 encode the same isoform (h).
      Source sequence(s)
      AC005104, AC104841, R38654
      UniProtKB/TrEMBL
      H7C2Y0
      Conserved Domains (1) summary
      cl40481
      Location:1139
      YlqF_related_GTPase; Circularly permuted YlqF-related GTPases
    27. NM_001349313.2NP_001336242.1  septin-2 isoform h

      Status: VALIDATED

      Description
      Transcript Variant: This variant (29) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (h) has a shorter N-terminus compared to isoform a. Variants 23-31 encode the same isoform (h).
      Source sequence(s)
      AC005104, AC104841, R38654
      UniProtKB/TrEMBL
      H7C2Y0
      Conserved Domains (1) summary
      cl40481
      Location:1139
      YlqF_related_GTPase; Circularly permuted YlqF-related GTPases
    28. NM_001349314.2NP_001336243.1  septin-2 isoform h

      Status: VALIDATED

      Description
      Transcript Variant: This variant (30) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (h) has a shorter N-terminus compared to isoform a. Variants 23-31 encode the same isoform (h).
      Source sequence(s)
      AC005104, AC104841, R38654
      UniProtKB/TrEMBL
      H7C2Y0
      Conserved Domains (1) summary
      cl40481
      Location:1139
      YlqF_related_GTPase; Circularly permuted YlqF-related GTPases
    29. NM_001349315.2NP_001336244.1  septin-2 isoform h

      Status: VALIDATED

      Description
      Transcript Variant: This variant (31) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (h) has a shorter N-terminus compared to isoform a. Variants 23-31 encode the same isoform (h).
      Source sequence(s)
      AC005104, AC104841, R38654
      UniProtKB/TrEMBL
      H7C2Y0
      Conserved Domains (1) summary
      cl40481
      Location:1139
      YlqF_related_GTPase; Circularly permuted YlqF-related GTPases
    30. NM_004404.5NP_004395.1  septin-2 isoform a

      See identical proteins and their annotated locations for NP_004395.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-4, 8-13, and 16-18 encode the same isoform (a).
      Source sequence(s)
      AA482233, AF038404, BX648000, DB091579
      Consensus CDS
      CCDS2548.1
      UniProtKB/Swiss-Prot
      B4DGE8, Q14132, Q15019, Q53QU3, Q8IUK9, Q96CB0
      Related
      ENSP00000375832.2, ENST00000391971.7
      Conserved Domains (1) summary
      pfam00735
      Location:35306
      Septin
    31. NM_006155.3NP_006146.1  septin-2 isoform a

      See identical proteins and their annotated locations for NP_006146.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-4, 8-13, and 16-18 encode the same isoform (a).
      Source sequence(s)
      AA482233, BX648000, D63878, DB035463, DB095611
      Consensus CDS
      CCDS2548.1
      UniProtKB/Swiss-Prot
      B4DGE8, Q14132, Q15019, Q53QU3, Q8IUK9, Q96CB0
      Related
      ENSP00000375834.2, ENST00000391973.6
      Conserved Domains (1) summary
      pfam00735
      Location:35306
      Septin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      241315355..241354027
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452921.2XP_024308689.1  septin-2 isoform X1

      Conserved Domains (1) summary
      pfam00735
      Location:102373
      Septin; Septin
    2. XM_024452920.2XP_024308688.1  septin-2 isoform X1

      Conserved Domains (1) summary
      pfam00735
      Location:102373
      Septin; Septin
    3. XM_047444494.1XP_047300450.1  septin-2 isoform X2

    4. XM_047444495.1XP_047300451.1  septin-2 isoform X3

    5. XM_047444499.1XP_047300455.1  septin-2 isoform X4

      UniProtKB/Swiss-Prot
      B4DGE8, Q14132, Q15019, Q53QU3, Q8IUK9, Q96CB0
    6. XM_047444492.1XP_047300448.1  septin-2 isoform X1

    7. XM_024452922.2XP_024308690.1  septin-2 isoform X2

      Conserved Domains (1) summary
      pfam00735
      Location:97368
      Septin
    8. XM_047444496.1XP_047300452.1  septin-2 isoform X3

    9. XM_047444498.1XP_047300454.1  septin-2 isoform X4

      UniProtKB/Swiss-Prot
      B4DGE8, Q14132, Q15019, Q53QU3, Q8IUK9, Q96CB0
    10. XM_024452925.2XP_024308693.1  septin-2 isoform X4

      UniProtKB/Swiss-Prot
      B4DGE8, Q14132, Q15019, Q53QU3, Q8IUK9, Q96CB0
      Conserved Domains (1) summary
      pfam00735
      Location:35306
      Septin
    11. XM_047444493.1XP_047300449.1  septin-2 isoform X1

    12. XM_047444500.1XP_047300456.1  septin-2 isoform X5

      UniProtKB/TrEMBL
      H7C2Y0
    13. XM_047444497.1XP_047300453.1  septin-2 isoform X4

      UniProtKB/Swiss-Prot
      B4DGE8, Q14132, Q15019, Q53QU3, Q8IUK9, Q96CB0
    14. XM_047444501.1XP_047300457.1  septin-2 isoform X5

      UniProtKB/TrEMBL
      H7C2Y0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      241814341..241852889
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342260.1XP_054198235.1  septin-2 isoform X1

    2. XM_054342259.1XP_054198234.1  septin-2 isoform X1

    3. XM_054342263.1XP_054198238.1  septin-2 isoform X2

    4. XM_054342265.1XP_054198240.1  septin-2 isoform X3

    5. XM_054342270.1XP_054198245.1  septin-2 isoform X4

      UniProtKB/Swiss-Prot
      B4DGE8, Q14132, Q15019, Q53QU3, Q8IUK9, Q96CB0
    6. XM_054342261.1XP_054198236.1  septin-2 isoform X1

    7. XM_054342264.1XP_054198239.1  septin-2 isoform X2

    8. XM_054342266.1XP_054198241.1  septin-2 isoform X3

    9. XM_054342269.1XP_054198244.1  septin-2 isoform X4

      UniProtKB/Swiss-Prot
      B4DGE8, Q14132, Q15019, Q53QU3, Q8IUK9, Q96CB0
    10. XM_054342267.1XP_054198242.1  septin-2 isoform X4

      UniProtKB/Swiss-Prot
      B4DGE8, Q14132, Q15019, Q53QU3, Q8IUK9, Q96CB0
    11. XM_054342262.1XP_054198237.1  septin-2 isoform X1

    12. XM_054342271.1XP_054198246.1  septin-2 isoform X5

      UniProtKB/TrEMBL
      H7C2Y0
    13. XM_054342268.1XP_054198243.1  septin-2 isoform X4

      UniProtKB/Swiss-Prot
      B4DGE8, Q14132, Q15019, Q53QU3, Q8IUK9, Q96CB0
    14. XM_054342272.1XP_054198247.1  septin-2 isoform X5

      UniProtKB/TrEMBL
      H7C2Y0