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SH3GL2 SH3 domain containing GRB2 like 2, endophilin A1 [ Homo sapiens (human) ]

Gene ID: 6456, updated on 2-Mar-2021

Summary

Official Symbol
SH3GL2provided by HGNC
Official Full Name
SH3 domain containing GRB2 like 2, endophilin A1provided by HGNC
Primary source
HGNC:HGNC:10831
See related
Ensembl:ENSG00000107295 MIM:604465
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
CNSA2; SH3P4; EEN-B1; SH3D2A
Expression
Biased expression in brain (RPKM 24.2), kidney (RPKM 2.6) and 1 other tissue See more
Orthologs
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Genomic context

See SH3GL2 in Genome Data Viewer
Location:
9p22.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (17579066..17797124)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (17579064..17797122)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene centlein Neighboring gene SAMM50 sorting and assembly machinery component pseudogene 1 Neighboring gene uncharacterized LOC107987051 Neighboring gene poly(A) binding protein cytoplasmic 1 pseudogene 11 Neighboring gene uncharacterized LOC105375987 Neighboring gene ADAMTS like 1 Neighboring gene pseudouridylate synthase 7 pseudogene 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?

Phenotypes

Associated conditions

Description Tests
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
GeneReviews: Not available
Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.
GeneReviews: Not available
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
GeneReviews: Not available
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20276, FLJ25015

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
lipid binding IEA
Inferred from Electronic Annotation
more info
 
protein C-terminus binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
Traceable Author Statement
more info
 
cellular response to brain-derived neurotrophic factor stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
central nervous system development TAS
Traceable Author Statement
more info
PubMed 
dendrite extension ISS
Inferred from Sequence or Structural Similarity
more info
 
lipid tube assembly IEA
Inferred from Electronic Annotation
more info
 
membrane bending IEA
Inferred from Electronic Annotation
more info
 
membrane organization TAS
Traceable Author Statement
more info
 
membrane tubulation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of blood-brain barrier permeability IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of epidermal growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
negative regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of membrane tubulation IEA
Inferred from Electronic Annotation
more info
 
regulation of clathrin-dependent endocytosis IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
synaptic vesicle endocytosis IEA
Inferred from Electronic Annotation
more info
 
vesicle scission IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
 
basal dendrite IEA
Inferred from Electronic Annotation
more info
 
clathrin-coated endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
cytosol TAS
Traceable Author Statement
more info
 
early endosome ISS
Inferred from Sequence or Structural Similarity
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
hippocampal mossy fiber to CA3 synapse IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IMP
Inferred from Mutant Phenotype
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
endophilin-A1
Names
Endophilin A1 BAR domain
SH3 domain protein 2A
SH3 domain-containing GRB2-like protein 2
SH3-domain GRB2-like 2
bA335L15.1 (SH3-domain GRB2-like 2)
endophilin-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_003026.5NP_003017.1  endophilin-A1

    See identical proteins and their annotated locations for NP_003017.1

    Status: VALIDATED

    Source sequence(s)
    AL133214, AL139115
    Consensus CDS
    CCDS6483.1
    UniProtKB/Swiss-Prot
    Q99962
    UniProtKB/TrEMBL
    Q7Z376
    Related
    ENSP00000369981.4, ENST00000380607.5
    Conserved Domains (2) summary
    cd07613
    Location:25247
    BAR_Endophilin_A1; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-A1
    cd11803
    Location:293347
    SH3_Endophilin_A; Src homology 3 domain of Endophilin-A

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    17579066..17797124
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518005.3XP_011516307.1  endophilin-A1 isoform X1

    Conserved Domains (2) summary
    cd07613
    Location:59281
    BAR_Endophilin_A1; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-A1
    cd11803
    Location:327381
    SH3_Endophilin_A; Src homology 3 domain of Endophilin-A

RNA

  1. XR_001746364.2 RNA Sequence

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