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    SH3GLB2 SH3 domain containing GRB2 like, endophilin B2 [ Homo sapiens (human) ]

    Gene ID: 56904, updated on 9-Dec-2024

    Summary

    Official Symbol
    SH3GLB2provided by HGNC
    Official Full Name
    SH3 domain containing GRB2 like, endophilin B2provided by HGNC
    Primary source
    HGNC:HGNC:10834
    See related
    Ensembl:ENSG00000148341 MIM:609288; AllianceGenome:HGNC:10834
    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
    RRIG1; PP6569; PP9455
    Summary
    Enables identical protein binding activity. Predicted to be involved in membrane organization and postsynaptic neurotransmitter receptor internalization. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in skin (RPKM 45.1), prostate (RPKM 29.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SH3GLB2 in Genome Data Viewer
    Location:
    9q34.11
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (129007036..129028331, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (141210470..141231788, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (131769315..131790610, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131708642-131709204 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131709205-131709766 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:131709767-131710328 Neighboring gene nucleoporin 188 Neighboring gene dolichol kinase Neighboring gene uncharacterized LOC101929314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29098 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29099 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29100 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131773679-131774589 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131784821-131785628 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131785629-131786436 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr9:131788471-131789034 and GRCh37_chr9:131789035-131789598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131789599-131790162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131790847-131791586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131791587-131792326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29101 Neighboring gene mitoguardin 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:131821359-131822558 Neighboring gene uncharacterized LOC124902334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29102 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131833123-131834072 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131834073-131835022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20359 Neighboring gene dolichyldiphosphatase 1

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1848

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cadherin binding HDA PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in membrane organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    endophilin-B2
    Names
    SH3 domain-containing GRB2-like protein B2
    SH3-containing protein SH3GLB2
    SH3-domain GRB2-like endophilin B2
    retinoid receptor-induced gene 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_001287045.2NP_001273974.1  endophilin-B2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      AB058751, AL592211, BC005843, BM808895
      Consensus CDS
      CCDS69680.1
      UniProtKB/Swiss-Prot
      Q9NR46
      Related
      ENSP00000361634.4, ENST00000372554.8
      Conserved Domains (2) summary
      cd07617
      Location:21282
      BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
      cd11944
      Location:348402
      SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2
    2. NM_001287046.2NP_001273975.1  endophilin-B2 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two alternate in-frame exons in the central coding region, and also lacks a segment of the 3' UTR, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Both variants 2 and 3 encode isoform b.
      Source sequence(s)
      AF257319, BC005843, BM808895
      Consensus CDS
      CCDS6916.1
      UniProtKB/Swiss-Prot
      A6NC47, A8MPS4, Q8WY61, Q96JH9, Q9NR46
      Related
      ENSP00000361640.1, ENST00000372559.5
      Conserved Domains (2) summary
      cd07617
      Location:21278
      BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
      cd11944
      Location:339393
      SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2
    3. NM_001369913.1NP_001356842.1  endophilin-B2 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (c).
      Source sequence(s)
      AL592211
      Conserved Domains (2) summary
      cd07617
      Location:32293
      BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
      cd11944
      Location:359413
      SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2
    4. NM_001369914.1NP_001356843.1  endophilin-B2 isoform d

      Status: VALIDATED

      Source sequence(s)
      AL592211
      Conserved Domains (1) summary
      cd07617
      Location:21282
      BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
    5. NM_001369915.1NP_001356844.1  endophilin-B2 isoform e

      Status: VALIDATED

      Source sequence(s)
      AL592211
      Conserved Domains (2) summary
      cd07617
      Location:21257
      BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
      cd11944
      Location:323377
      SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2
    6. NM_020145.4NP_064530.1  endophilin-B2 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a. Both variants 2 and 3 encode isoform b.
      Source sequence(s)
      AB058751, AL592211, BC005843, BC014635, BM808895
      Consensus CDS
      CCDS6916.1
      UniProtKB/Swiss-Prot
      A6NC47, A8MPS4, Q8WY61, Q96JH9, Q9NR46
      Related
      ENSP00000361645.3, ENST00000372564.8
      Conserved Domains (2) summary
      cd07617
      Location:21278
      BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
      cd11944
      Location:339393
      SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2

    RNA

    1. NR_163192.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL592211

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      129007036..129028331 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005252101.4XP_005252158.1  endophilin-B2 isoform X8

      UniProtKB/Swiss-Prot
      Q9NR46
      Conserved Domains (1) summary
      cl17036
      Location:65125
      SH3; Src Homology 3 domain superfamily
    2. XM_047423606.1XP_047279562.1  endophilin-B2 isoform X7

      UniProtKB/TrEMBL
      B7ZC39
      Related
      ENSP00000388282.1, ENST00000416629.5
    3. XM_005252098.3XP_005252155.1  endophilin-B2 isoform X5

      UniProtKB/TrEMBL
      B7ZC38
      Related
      ENSP00000402566.1, ENST00000417224.5
      Conserved Domains (2) summary
      cd07617
      Location:21278
      BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
      cd11944
      Location:344398
      SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2
    4. XM_047423605.1XP_047279561.1  endophilin-B2 isoform X4

    5. XM_006717189.3XP_006717252.1  endophilin-B2 isoform X2

      Conserved Domains (2) summary
      cd07617
      Location:21302
      BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
      cd11944
      Location:368422
      SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2
    6. XM_006717191.2XP_006717254.1  endophilin-B2 isoform X6

      Conserved Domains (2) summary
      cd07617
      Location:21282
      BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
      cd11944
      Location:343397
      SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2
    7. XM_006717190.2XP_006717253.1  endophilin-B2 isoform X3

      Conserved Domains (2) summary
      cd07617
      Location:21306
      BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
      cd11944
      Location:367421
      SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2
    8. XM_006717188.3XP_006717251.1  endophilin-B2 isoform X1

      Conserved Domains (2) summary
      cd07617
      Location:21306
      BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
      cd11944
      Location:372426
      SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2
    9. XM_047423607.1XP_047279563.1  endophilin-B2 isoform X8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      141210470..141231788 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363313.1XP_054219288.1  endophilin-B2 isoform X8

    2. XM_054363312.1XP_054219287.1  endophilin-B2 isoform X7

      UniProtKB/TrEMBL
      B7ZC39
    3. XM_054363310.1XP_054219285.1  endophilin-B2 isoform X5

      UniProtKB/TrEMBL
      B7ZC38
    4. XM_054363309.1XP_054219284.1  endophilin-B2 isoform X4

    5. XM_054363307.1XP_054219282.1  endophilin-B2 isoform X2

    6. XM_054363311.1XP_054219286.1  endophilin-B2 isoform X6

    7. XM_054363308.1XP_054219283.1  endophilin-B2 isoform X3

    8. XM_054363306.1XP_054219281.1  endophilin-B2 isoform X1

    9. XM_054363314.1XP_054219289.1  endophilin-B2 isoform X8