U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 6456, updated on 27-Nov-2024

Summary

Go to the top of the page Help
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, Nov 2024]
Expression
Biased expression in brain (RPKM 24.2), kidney (RPKM 2.6) and 1 other tissue See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Endophilin-1 regulates blood-brain barrier permeability via EGFR-JNK signaling pathway. Chen L, et al. Brain Res, 2015 May 5. PMID 25721793
  2. SNP rs1049430 in the 3'-UTR of SH3GL2 regulates its expression: Clinical and prognostic implications in head and neck squamous cell carcinoma. Maiti GP, et al. Biochim Biophys Acta, 2015 May. PMID 25728707
  3. Aberrant promoter methylation of SH3GL2 gene in vulvar squamous cell carcinoma correlates with clinicopathological characteristics and HPV infection status. Li B, et al. Int J Clin Exp Pathol, 2015. PMID 26823912, Free PMC Article
  4. Loss of Sh3gl2/endophilin A1 is a common event in urothelial carcinoma that promotes malignant behavior. Majumdar S, et al. Neoplasia, 2013 Jul. PMID 23814487, Free PMC Article
  5. The HECT domain ligase itch ubiquitinates endophilin and localizes to the trans-Golgi network and endosomal system. Angers A, et al. J Biol Chem, 2004 Mar 19. PMID 14684745

See all (118) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. EndophilinA-dependent coupling between activity-induced calcium influx and synaptic autophagy is disrupted by a Parkinson-risk mutation.
    Title: EndophilinA-dependent coupling between activity-induced calcium influx and synaptic autophagy is disrupted by a Parkinson-risk mutation.
  2. A family of fuchs endothelial corneal dystrophy and anterior polar cataract with an analysis of whole exome sequencing.
    Title: A family of fuchs endothelial corneal dystrophy and anterior polar cataract with an analysis of whole exome sequencing.
  3. Cancer Testis Antigen Promotes Triple Negative Breast Cancer Metastasis and is Traceable in the Circulating Extracellular Vesicles.
    Title: Cancer Testis Antigen Promotes Triple Negative Breast Cancer Metastasis and is Traceable in the Circulating Extracellular Vesicles.
  4. miR-424-5p could affect the expression of tight junction proteins, ZO-1 and occludin, via Endophilin-1, and thereby regulate blood brain barrier (BBB) permeability in an BBB model in vitro with Amyloid-beta incubated endothelial cells.
    Title: miR-424-5p maybe regulate blood-brain barrier permeability in a model in vitro with Abeta incubated endothelial cells.
  5. In mammals, VGLUT1 gained a proline-rich sequence that recruits endophilinA1 and turns the transporter into a regulator of synaptic vesicles organization and spontaneous release.
    Title: A proline-rich motif on VGLUT1 reduces synaptic vesicle super-pool and spontaneous release frequency.
  6. endophilin A1 plays a critical role in epilepsy
    Title: Endophilin A1 mediates seizure activity via regulation of AMPARs in a PTZ-kindled epileptic mouse model.
  7. The results suggest that SH3GL2 suppresses migration and invasion behaviors of glioma cells through negatively regulating STAT3/MMP2 signaling.
    Title: Loss of SH3GL2 promotes the migration and invasion behaviours of glioblastoma cells through activating the STAT3/MMP2 signalling.
  8. Alix acts in concert with endophilin A to promote clathrin-independent endocytosis of cholera toxin and to regulate cell migration.
    Title: ALG-2 interacting protein-X (Alix) is essential for clathrin-independent endocytosis and signaling.
  9. This study identified a new mitochondria reprogramming pathway influencing breast cancer progression through SH3GL2 and MFN2. These proteins were frequently lost in breast cancer, which was traceable in the circulating exosomes.
    Title: Mitochondrial Reprogramming Regulates Breast Cancer Progression.
  10. Endophilin-1 was a direct and functional downstream target of miR-107.
    Title: MicroRNA-107 prevents amyloid-beta induced blood-brain barrier disruption and endothelial cell dysfunction by targeting Endophilin-1.
Submit: New GeneRIF Correction See all GeneRIFs (28)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

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

Go to the top of the page Help
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)

Go to the top of the page Help

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_003026.5 → NP_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:25 → 247
    BAR_Endophilin_A1; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-A1
    cd11803
    Location:293 → 347
    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_047423730.1 → XP_047279686.1  endophilin-A1 isoform X2

  2. XM_011518005.4 → XP_011516307.1  endophilin-A1 isoform X1

    UniProtKB/TrEMBL
    B7Z1K6
    Conserved Domains (2) summary
    cd07613
    Location:59 → 281
    BAR_Endophilin_A1; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-A1
    cd11803
    Location:327 → 381
    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_054363552.1 → XP_054219527.1  endophilin-A1 isoform X2

  2. XM_054363551.1 → XP_054219526.1  endophilin-A1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99962.1 GenPept UniProtKB/Swiss-Prot:Q99962

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous