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

Gene ID: 6456, updated on 19-Sep-2024

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; AllianceGenome:HGNC:10831
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
Summary
Enables identical protein binding activity. Involved in negative regulation of blood-brain barrier permeability; negative regulation of gene expression; and negative regulation of protein phosphorylation. Located in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
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:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (17579066..17797124)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (17591797..17809924)
RS_2024_09 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 H3K4me1 hESC enhancer GRCh37_chr9:17539955-17540454 Neighboring gene SAMM50 sorting and assembly machinery component pseudogene 1 Neighboring gene uncharacterized LOC107987051 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:17577876-17578074 Neighboring gene poly(A) binding protein cytoplasmic 1 pseudogene 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28217 Neighboring gene uncharacterized LOC105375987 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:17906806-17907350 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:17907351-17907895 Neighboring gene ADAMTS like 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:18071016-18072215 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_107194 Neighboring gene pseudouridylate synthase 7 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
EBI GWAS Catalog
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.
EBI GWAS Catalog
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
EBI GWAS Catalog
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ20276, FLJ25015

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables lipid binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular response to brain-derived neurotrophic factor stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in central nervous system development TAS
Traceable Author Statement
more info
PubMed 
involved_in dendrite extension ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of blood-brain barrier permeability IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in signal transduction TAS
Traceable Author Statement
more info
PubMed 
involved_in synaptic vesicle uncoating IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in Golgi membrane TAS
Traceable Author Statement
more info
 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in clathrin-coated endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in early endosome ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in glutamatergic synapse IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in perinuclear region of cytoplasm IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
is_active_in presynapse IBA
Inferred from Biological aspect of Ancestor
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
    B2R618, Q99962, Q9NQK5
    UniProtKB/TrEMBL
    B7Z1K6
    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: 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
    17579066..17797124
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047423730.1XP_047279686.1  endophilin-A1 isoform X2

    UniProtKB/TrEMBL
    B7Z7M7
  2. XM_011518005.4XP_011516307.1  endophilin-A1 isoform X1

    UniProtKB/TrEMBL
    B7Z1K6
    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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    17591797..17809924
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054363552.1XP_054219527.1  endophilin-A1 isoform X2

    UniProtKB/TrEMBL
    B7Z7M7
  2. XM_054363551.1XP_054219526.1  endophilin-A1 isoform X1

    UniProtKB/TrEMBL
    B7Z1K6