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    EPB41L2 erythrocyte membrane protein band 4.1 like 2 [ Homo sapiens (human) ]

    Gene ID: 2037, updated on 9-Dec-2024

    Summary

    Official Symbol
    EPB41L2provided by HGNC
    Official Full Name
    erythrocyte membrane protein band 4.1 like 2provided by HGNC
    Primary source
    HGNC:HGNC:3379
    See related
    Ensembl:ENSG00000079819 MIM:603237; AllianceGenome:HGNC:3379
    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
    4.1G; 4.1-G
    Summary
    Predicted to enable PH domain binding activity; cytoskeletal protein binding activity; and structural molecule activity. Involved in positive regulation of protein localization to cell cortex. Located in several cellular components, including cell cortex; cell junction; and nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in fat (RPKM 33.9), ovary (RPKM 23.5) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EPB41L2 in Genome Data Viewer
    Location:
    6q23.1-q23.2
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (130839347..131063245, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (132034412..132258670, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (131160487..131384385, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378003 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89674 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:131117030-131117723 Neighboring gene Sharpr-MPRA regulatory region 8038 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25062 Neighboring gene Sharpr-MPRA regulatory region 2744 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89712 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89717 Neighboring gene small leucine rich protein 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89732 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17541 Neighboring gene Sharpr-MPRA regulatory region 6396 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89750 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:131314249-131315096 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89780 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17543 Neighboring gene uncharacterized LOC105378004 Neighboring gene uncharacterized LOC102723445 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89797 Neighboring gene A-kinase anchoring protein 7

    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
    Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial.
    EBI GWAS Catalog
    Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N = 1345 young and elderly subjects.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog
    No evidence of gene-calcium interactions from genome-wide analysis of colorectal cancer risk.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Cellular biotinylated erythrocyte membrane protein band 4.1-like 2 (EPB41L2) protein is incorporated into HIV-1 Gag virus-like particles PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp781D1972, DKFZp781H1755

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables PH domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables spectrin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in actomyosin structure organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cortical actin cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of protein localization to cell cortex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of COP9 signalosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell cortex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
     
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in focal adhesion HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    part_of spectrin TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    band 4.1-like protein 2
    Names
    erythrocyte membrane protein band 4.1 like-protein 2
    generally expressed protein 4.1

    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_001135554.2NP_001129026.1  band 4.1-like protein 2 isoform b

      See identical proteins and their annotated locations for NP_001129026.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks multiple consecutive in-frame exons in the CDS, compared to variant 1. The resulting isoform (b) lacks an internal segment, compared to isoform a. Variants 2 and 3 encode the same isoform (b).
      Source sequence(s)
      AB209522, BC034718, DA108957
      Consensus CDS
      CCDS47474.1
      UniProtKB/TrEMBL
      Q59FD8
      Related
      ENSP00000376222.3, ENST00000392427.7
      Conserved Domains (5) summary
      PTZ00121
      Location:9222
      PTZ00121; MAEBL; Provisional
      smart00295
      Location:220409
      B41; Band 4.1 homologues
      cd13184
      Location:404497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:611666
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507550
      FA; FERM adjacent (FA)
    2. NM_001135555.4NP_001129027.1  band 4.1-like protein 2 isoform b

      See identical proteins and their annotated locations for NP_001129027.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR and lacks five consecutive exons in the coding region, but maintains the reading frame, compared to variant 1. Variants 2 and 3 encode the same isoform (b), which is shorter than isoform a.
      Source sequence(s)
      AK295124, BC034718
      Consensus CDS
      CCDS47474.1
      UniProtKB/TrEMBL
      Q59FD8
      Related
      ENSP00000432803.1, ENST00000525271.5
      Conserved Domains (5) summary
      PTZ00121
      Location:9222
      PTZ00121; MAEBL; Provisional
      smart00295
      Location:220409
      B41; Band 4.1 homologues
      cd13184
      Location:404497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:611666
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507550
      FA; FERM adjacent (FA)
    3. NM_001199388.3NP_001186317.1  band 4.1-like protein 2 isoform c

      See identical proteins and their annotated locations for NP_001186317.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, uses an alternate splice site in the coding region and lacks two consecutive coding exons, but maintains the reading frame, compared to variant 1. The encoded isoform (c) is shorter than isoform a. Variants 4 and 15-17 all encode the same isoform (c).
      Source sequence(s)
      AK295958, BC034718, DA108957
      Consensus CDS
      CCDS56450.1
      UniProtKB/TrEMBL
      E9PK52
      Related
      ENSP00000434576.1, ENST00000530481.5
      Conserved Domains (5) summary
      smart00295
      Location:220409
      B41; Band 4.1 homologues
      cd13184
      Location:404497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:740845
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507549
      FA; FERM adjacent (FA)
      cl26511
      Location:9222
      Neuromodulin_N; Gap junction protein N-terminal region
    4. NM_001252660.2NP_001239589.1  band 4.1-like protein 2 isoform d

      See identical proteins and their annotated locations for NP_001239589.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and lacks three consecutive exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (d) is shorter than isoform a. Variants 6 and 18-20 all encode the same isoform (d).
      Source sequence(s)
      BC034718, CR749262, CR936793
      Consensus CDS
      CCDS59037.1
      UniProtKB/TrEMBL
      Q59FD8
      Related
      ENSP00000434308.1, ENST00000528282.5
      Conserved Domains (5) summary
      smart00295
      Location:220409
      B41; Band 4.1 homologues
      cd13184
      Location:404497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:635740
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507549
      FA; FERM adjacent (FA)
      cl26511
      Location:9222
      Neuromodulin_N; Gap junction protein N-terminal region
    5. NM_001350299.2NP_001337228.1  band 4.1-like protein 2 isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) represents the longest transcript and encodes the longest isoform (e).
      Source sequence(s)
      AL355360, AL358943
      Consensus CDS
      CCDS94000.1
      UniProtKB/TrEMBL
      A0A994J5B1
      Related
      ENSP00000516350.1, ENST00000706365.1
      Conserved Domains (6) summary
      smart00295
      Location:220409
      B41; Band 4.1 homologues
      cd13184
      Location:404497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:630673
      SAB; SAB domain
      pfam05902
      Location:9451050
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507549
      FA; FERM adjacent (FA)
      cl26511
      Location:9222
      Neuromodulin_N; Gap junction protein N-terminal region
    6. NM_001350301.2NP_001337230.1  band 4.1-like protein 2 isoform f

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) encodes isoform f.
      Source sequence(s)
      AL355360, AL357496, AL358943
      Conserved Domains (6) summary
      smart00295
      Location:220409
      B41; Band 4.1 homologues
      cd13184
      Location:404497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:630673
      SAB; SAB domain
      pfam05902
      Location:9451017
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507549
      FA; FERM adjacent (FA)
      cl26511
      Location:9222
      Neuromodulin_N; Gap junction protein N-terminal region
    7. NM_001350302.2NP_001337231.1  band 4.1-like protein 2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9), as well as variant 1, encodes isoform a.
      Source sequence(s)
      AL355360, AL358943
      Consensus CDS
      CCDS5141.1
      UniProtKB/Swiss-Prot
      B4DHI8, E9PPD9, O43491, Q5T4F0, Q68DV2
      UniProtKB/TrEMBL
      E9PK52
      Conserved Domains (6) summary
      smart00295
      Location:220409
      B41; Band 4.1 homologues
      cd13184
      Location:404497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:630673
      SAB; SAB domain
      pfam05902
      Location:893998
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507549
      FA; FERM adjacent (FA)
      cl26511
      Location:9222
      Neuromodulin_N; Gap junction protein N-terminal region
    8. NM_001350303.2NP_001337232.1  band 4.1-like protein 2 isoform g

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10) encodes isoform g.
      Source sequence(s)
      AL355360, AL357496, AL358943
      UniProtKB/TrEMBL
      E9PK52
      Conserved Domains (5) summary
      smart00295
      Location:220409
      B41; Band 4.1 homologues
      cd13184
      Location:404497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:844949
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507549
      FA; FERM adjacent (FA)
      cl26511
      Location:9222
      Neuromodulin_N; Gap junction protein N-terminal region
    9. NM_001350304.2NP_001337233.1  band 4.1-like protein 2 isoform h

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11), as well as variants 12 and 13, encodes isoform h.
      Source sequence(s)
      AL355360, AL357496, AL358943
      Consensus CDS
      CCDS87440.1
      UniProtKB/TrEMBL
      E9PHY5, E9PK52
      Related
      ENSP00000486691.1, ENST00000628542.2
      Conserved Domains (5) summary
      smart00295
      Location:220409
      B41; Band 4.1 homologues
      cd13184
      Location:404497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:823928
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507549
      FA; FERM adjacent (FA)
      cl26511
      Location:9222
      Neuromodulin_N; Gap junction protein N-terminal region
    10. NM_001350305.2NP_001337234.1  band 4.1-like protein 2 isoform h

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12), as well as variants 11 and 13, encodes isoform h.
      Source sequence(s)
      AL355360, AL357496, AL358943
      Consensus CDS
      CCDS87440.1
      UniProtKB/TrEMBL
      E9PHY5, E9PK52
      Related
      ENSP00000436348.1, ENST00000527411.5
      Conserved Domains (5) summary
      smart00295
      Location:220409
      B41; Band 4.1 homologues
      cd13184
      Location:404497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:823928
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507549
      FA; FERM adjacent (FA)
      cl26511
      Location:9222
      Neuromodulin_N; Gap junction protein N-terminal region
    11. NM_001350306.2NP_001337235.1  band 4.1-like protein 2 isoform h

      Status: VALIDATED

      Description
      Transcript Variant: This variant (13), as well as variants 11 and 12, encodes isoform h.
      Source sequence(s)
      AL355360, AL358943
      Consensus CDS
      CCDS87440.1
      UniProtKB/TrEMBL
      E9PHY5, E9PK52
      Related
      ENSP00000436641.1, ENST00000529208.5
      Conserved Domains (5) summary
      smart00295
      Location:220409
      B41; Band 4.1 homologues
      cd13184
      Location:404497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:823928
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507549
      FA; FERM adjacent (FA)
      cl26511
      Location:9222
      Neuromodulin_N; Gap junction protein N-terminal region
    12. NM_001350307.2NP_001337236.1  band 4.1-like protein 2 isoform i

      Status: VALIDATED

      Description
      Transcript Variant: This variant (14) encodes isoform i.
      Source sequence(s)
      AL355360, AL357496, AL358943
      UniProtKB/TrEMBL
      E9PK52
      Conserved Domains (5) summary
      smart00295
      Location:220409
      B41; Band 4.1 homologues
      cd13184
      Location:404497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:758863
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507549
      FA; FERM adjacent (FA)
      cl26511
      Location:9222
      Neuromodulin_N; Gap junction protein N-terminal region
    13. NM_001350308.2NP_001337237.1  band 4.1-like protein 2 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (15), as well as variants 4, 16, and 17, encodes isoform c.
      Source sequence(s)
      AL355360, AL357496, AL358943
      Consensus CDS
      CCDS56450.1
      UniProtKB/TrEMBL
      E9PK52
      Conserved Domains (5) summary
      smart00295
      Location:220409
      B41; Band 4.1 homologues
      cd13184
      Location:404497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:740845
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507549
      FA; FERM adjacent (FA)
      cl26511
      Location:9222
      Neuromodulin_N; Gap junction protein N-terminal region
    14. NM_001350309.1NP_001337238.1  band 4.1-like protein 2 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (16), as well as variants 4, 15, and 17, encodes isoform c.
      Source sequence(s)
      AL355360, AL357496, AL358943
      Consensus CDS
      CCDS56450.1
      UniProtKB/TrEMBL
      E9PK52
      Related
      ENSP00000431647.1, ENST00000527659.5
      Conserved Domains (5) summary
      smart00295
      Location:220409
      B41; Band 4.1 homologues
      cd13184
      Location:404497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:740845
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507549
      FA; FERM adjacent (FA)
      cl26511
      Location:9222
      Neuromodulin_N; Gap junction protein N-terminal region
    15. NM_001350310.2NP_001337239.1  band 4.1-like protein 2 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (17), as well as variants 4, 15, and 16, encodes isoform c.
      Source sequence(s)
      AL355360, AL358943
      Consensus CDS
      CCDS56450.1
      UniProtKB/TrEMBL
      E9PK52
      Conserved Domains (5) summary
      smart00295
      Location:220409
      B41; Band 4.1 homologues
      cd13184
      Location:404497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:740845
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507549
      FA; FERM adjacent (FA)
      cl26511
      Location:9222
      Neuromodulin_N; Gap junction protein N-terminal region
    16. NM_001350311.2NP_001337240.1  band 4.1-like protein 2 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (18), as well as variants 6, 19, and 20, encodes isoform d.
      Source sequence(s)
      AL355360, AL357496, AL358943
      Consensus CDS
      CCDS59037.1
      UniProtKB/TrEMBL
      Q59FD8
      Conserved Domains (5) summary
      smart00295
      Location:220409
      B41; Band 4.1 homologues
      cd13184
      Location:404497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:635740
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507549
      FA; FERM adjacent (FA)
      cl26511
      Location:9222
      Neuromodulin_N; Gap junction protein N-terminal region
    17. NM_001350312.2NP_001337241.1  band 4.1-like protein 2 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (19), as well as variants 6, 18, and 20, encodes isoform d.
      Source sequence(s)
      AL355360, AL357496, AL358943
      Consensus CDS
      CCDS59037.1
      UniProtKB/TrEMBL
      Q59FD8
      Related
      ENSP00000402041.2, ENST00000445890.6
      Conserved Domains (5) summary
      smart00295
      Location:220409
      B41; Band 4.1 homologues
      cd13184
      Location:404497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:635740
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507549
      FA; FERM adjacent (FA)
      cl26511
      Location:9222
      Neuromodulin_N; Gap junction protein N-terminal region
    18. NM_001350313.2NP_001337242.1  band 4.1-like protein 2 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (20), as well as variants 6, 18, and 19, encodes isoform d.
      Source sequence(s)
      AL355360, AL358943
      Consensus CDS
      CCDS59037.1
      UniProtKB/TrEMBL
      Q59FD8
      Conserved Domains (5) summary
      smart00295
      Location:220409
      B41; Band 4.1 homologues
      cd13184
      Location:404497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:635740
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507549
      FA; FERM adjacent (FA)
      cl26511
      Location:9222
      Neuromodulin_N; Gap junction protein N-terminal region
    19. NM_001350314.2NP_001337243.1  band 4.1-like protein 2 isoform j

      Status: VALIDATED

      Description
      Transcript Variant: This variant (21), as well as variant 22, encodes isoform j.
      Source sequence(s)
      AL355360, AL357496, AL358943
      Consensus CDS
      CCDS87439.1
      UniProtKB/TrEMBL
      E9PII3, Q59FD8
      Related
      ENSP00000431988.1, ENST00000525193.5
      Conserved Domains (5) summary
      smart00295
      Location:220409
      B41; Band 4.1 homologues
      cd13184
      Location:404497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:611699
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507549
      FA; FERM adjacent (FA)
      cl26511
      Location:9222
      Neuromodulin_N; Gap junction protein N-terminal region
    20. NM_001350315.2NP_001337244.1  band 4.1-like protein 2 isoform j

      Status: VALIDATED

      Description
      Transcript Variant: This variant (22), as well as variant 21, encodes isoform j.
      Source sequence(s)
      AL355360, AL357496, AL358943
      Consensus CDS
      CCDS87439.1
      UniProtKB/TrEMBL
      E9PII3, Q59FD8
      Conserved Domains (5) summary
      smart00295
      Location:220409
      B41; Band 4.1 homologues
      cd13184
      Location:404497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:611699
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507549
      FA; FERM adjacent (FA)
      cl26511
      Location:9222
      Neuromodulin_N; Gap junction protein N-terminal region
    21. NM_001350320.2NP_001337249.1  band 4.1-like protein 2 isoform k

      Status: VALIDATED

      Description
      Transcript Variant: This variant (23) encodes isoform k.
      Source sequence(s)
      AL355360, AL357496, AL358943
      Conserved Domains (3) summary
      cd13184
      Location:295
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:421526
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:105147
      FA; FERM adjacent (FA)
    22. NM_001431.4NP_001422.1  band 4.1-like protein 2 isoform a

      See identical proteins and their annotated locations for NP_001422.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1), as well as variant 9, encodes isoform a.
      Source sequence(s)
      AF027299, BC034718, DA108957
      Consensus CDS
      CCDS5141.1
      UniProtKB/Swiss-Prot
      B4DHI8, E9PPD9, O43491, Q5T4F0, Q68DV2
      UniProtKB/TrEMBL
      E9PK52
      Related
      ENSP00000338481.3, ENST00000337057.8
      Conserved Domains (6) summary
      smart00295
      Location:220409
      B41; Band 4.1 homologues
      cd13184
      Location:404497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:630673
      SAB; SAB domain
      pfam05902
      Location:893998
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507549
      FA; FERM adjacent (FA)
      cl26511
      Location:9222
      Neuromodulin_N; Gap junction protein N-terminal region

    RNA

    1. NR_146620.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL355360, AL357496, AL358943

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      130839347..131063245 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      132034412..132258670 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001199389.1: Suppressed sequence

      Description
      NM_001199389.1: This RefSeq was permanently suppressed because currently there is insufficient support for the exon combination of the transcript.