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

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, Dec 2024]
Expression: Biased expression in brain (RPKM 24.2), kidney (RPKM 2.6) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

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_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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

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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

EBI GWAS Catalog

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

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

SHGC-153793 (e-PCR)
- UniSTS:177939

G63106 (e-PCR)
- UniSTS:140081

RH12259 (e-PCR)
- UniSTS:22666

T15988 (e-PCR)
- UniSTS:8370

RH47487 (e-PCR)
- UniSTS:80082

D9S157 (e-PCR), detects polymorphism
- UniSTS:12760

D9S157 (e-PCR), detects polymorphism
- UniSTS:28906

SHGC-84568 (e-PCR)
- UniSTS:102901

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

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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)

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

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

17579066..17797124

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B7Z7M7
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