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

Gene ID: 56904, updated on 27-Nov-2024

Summary

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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, Nov 2024]
Expression
Ubiquitous expression in skin (RPKM 45.1), prostate (RPKM 29.7) and 25 other tissues See more
Orthologs
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Tumor-suppressor activity of RRIG1 in breast cancer. Zhang G, et al. BMC Cancer, 2011 Jan 25. PMID 21266059, Free PMC Article
  2. Endophilin B2 facilitates endosome maturation in response to growth factor stimulation, autophagy induction, and influenza A virus infection. Serfass JM, et al. J Biol Chem, 2017 Jun 16. PMID 28455444, Free PMC Article
  3. Endophilin B2 promotes inner mitochondrial membrane degradation by forming heterodimers with Endophilin B1 during mitophagy. Wang YH, et al. Sci Rep, 2016 Apr 26. PMID 27112121, Free PMC Article
  4. The Bin/amphiphysin/Rvs (BAR) domain protein endophilin B2 interacts with plectin and controls perinuclear cytoskeletal architecture. Vannier C, et al. J Biol Chem, 2013 Sep 20. PMID 23921385, Free PMC Article
  5. SPAS-1 (stimulator of prostatic adenocarcinoma-specific T cells)/SH3GLB2: A prostate tumor antigen identified by CTLA-4 blockade. Fassò M, et al. Proc Natl Acad Sci U S A, 2008 Mar 4. PMID 18303116, Free PMC Article

See all (62) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Here the authors report that Endophilin B2, similarly to Endophilin B1, plays an indispensable role in mitochondria sequestration and inner mitochondrial membrane (IMM) protein degradation during mitophagy.
    Title: Endophilin B2 promotes inner mitochondrial membrane degradation by forming heterodimers with Endophilin B1 during mitophagy.
  2. Data (including data from studies in knockout mice) suggest that SH3GLB2 regulates trafficking of endocytic vesicles and autophagosomes to late endosomes or lysosomes; despite having an intracellular localization and tissue distribution similar to endophilin B1, endophilin B2 is dispensable for mitochondrial apoptosis.
    Title: Endophilin B2 facilitates endosome maturation in response to growth factor stimulation, autophagy induction, and influenza A virus infection.
  3. the potential importance of the endophilin B2-plectin complex in the biological functions depending on nuclear migration and positioning.
    Title: The Bin/amphiphysin/Rvs (BAR) domain protein endophilin B2 interacts with plectin and controls perinuclear cytoskeletal architecture.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  5. identified a nonmutated HLA-A2-binding epitope in the human ortholog SH3GLB2, which primed T cells from healthy HLA-A2(+) individuals
    Title: SPAS-1 (stimulator of prostatic adenocarcinoma-specific T cells)/SH3GLB2: A prostate tumor antigen identified by CTLA-4 blockade.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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

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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)

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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_001287045.2 → NP_001273974.1  endophilin-B2 isoform a

    See identical proteins and their annotated locations for NP_001273974.1

    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:21 → 282
    BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
    cd11944
    Location:348 → 402
    SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2

  2. NM_001287046.2 → NP_001273975.1  endophilin-B2 isoform b

    See identical proteins and their annotated locations for NP_001273975.1

    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:21 → 278
    BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
    cd11944
    Location:339 → 393
    SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2

  3. NM_001369913.1 → NP_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:32 → 293
    BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
    cd11944
    Location:359 → 413
    SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2

  4. NM_001369914.1 → NP_001356843.1  endophilin-B2 isoform d

    Status: VALIDATED

    Source sequence(s)
    AL592211
    Conserved Domains (1) summary
    cd07617
    Location:21 → 282
    BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2

  5. NM_001369915.1 → NP_001356844.1  endophilin-B2 isoform e

    Status: VALIDATED

    Source sequence(s)
    AL592211
    Conserved Domains (2) summary
    cd07617
    Location:21 → 257
    BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
    cd11944
    Location:323 → 377
    SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2

  6. NM_020145.4 → NP_064530.1  endophilin-B2 isoform b

    See identical proteins and their annotated locations for NP_064530.1

    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:21 → 278
    BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
    cd11944
    Location:339 → 393
    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_005252101.4 → XP_005252158.1  endophilin-B2 isoform X8

    See identical proteins and their annotated locations for XP_005252158.1

    UniProtKB/Swiss-Prot
    Q9NR46
    Conserved Domains (1) summary
    cl17036
    Location:65 → 125
    SH3; Src Homology 3 domain superfamily

  2. XM_047423606.1 → XP_047279562.1  endophilin-B2 isoform X7

    UniProtKB/TrEMBL
    B7ZC39
    Related
    ENSP00000388282.1, ENST00000416629.5

  3. XM_005252098.3 → XP_005252155.1  endophilin-B2 isoform X5

    See identical proteins and their annotated locations for XP_005252155.1

    UniProtKB/TrEMBL
    B7ZC38
    Related
    ENSP00000402566.1, ENST00000417224.5
    Conserved Domains (2) summary
    cd07617
    Location:21 → 278
    BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
    cd11944
    Location:344 → 398
    SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2

  4. XM_047423605.1 → XP_047279561.1  endophilin-B2 isoform X4

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

    Conserved Domains (2) summary
    cd07617
    Location:21 → 302
    BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
    cd11944
    Location:368 → 422
    SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2

  6. XM_006717191.2 → XP_006717254.1  endophilin-B2 isoform X6

    See identical proteins and their annotated locations for XP_006717254.1

    Conserved Domains (2) summary
    cd07617
    Location:21 → 282
    BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
    cd11944
    Location:343 → 397
    SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2

  7. XM_006717190.2 → XP_006717253.1  endophilin-B2 isoform X3

    Conserved Domains (2) summary
    cd07617
    Location:21 → 306
    BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
    cd11944
    Location:367 → 421
    SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2

  8. XM_006717188.3 → XP_006717251.1  endophilin-B2 isoform X1

    Conserved Domains (2) summary
    cd07617
    Location:21 → 306
    BAR_Endophilin_B2; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B2
    cd11944
    Location:372 → 426
    SH3_Endophilin_B2; Src homology 3 domain of Endophilin-B2

  9. XM_047423607.1 → XP_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_054363313.1 → XP_054219288.1  endophilin-B2 isoform X8

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

    UniProtKB/TrEMBL
    B7ZC39

  3. XM_054363310.1 → XP_054219285.1  endophilin-B2 isoform X5

    UniProtKB/TrEMBL
    B7ZC38

  4. XM_054363309.1 → XP_054219284.1  endophilin-B2 isoform X4

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

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

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

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

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

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NR46.1 GenPept UniProtKB/Swiss-Prot:Q9NR46

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