Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SH3GL2 Gene

Aliases for SH3GL2 Gene

  • SH3 Domain Containing GRB2 Like 2, Endophilin A1 2 3 5
  • SH3 Domain-Containing GRB2-Like Protein 2 3 4
  • SH3 Domain Containing GRB2 Like 2 2 3
  • SH3 Domain Protein 2A 3 4
  • Endophilin-A1 2 3
  • Endophilin-1 3 4
  • EEN-B1 3 4
  • SH3D2A 3 4
  • CNSA2 3 4
  • BA335L15.1 (SH3-Domain GRB2-Like 2) 3
  • Endophilin A1 BAR Domain 3
  • SH3-Domain GRB2-Like 2 3
  • SH3P4 3

External Ids for SH3GL2 Gene

Previous GeneCards Identifiers for SH3GL2 Gene

  • GC09P017744

Summaries for SH3GL2 Gene

GeneCards Summary for SH3GL2 Gene

SH3GL2 (SH3 Domain Containing GRB2 Like 2, Endophilin A1) is a Protein Coding gene. Diseases associated with SH3GL2 include Childhood Pilocytic Astrocytoma and Vulva Cancer. Among its related pathways are Clathrin derived vesicle budding and Signaling by GPCR. GO annotations related to this gene include identical protein binding and lipid binding. An important paralog of this gene is SH3GL1.

UniProtKB/Swiss-Prot for SH3GL2 Gene

  • Implicated in synaptic vesicle endocytosis. May recruit other proteins to membranes with high curvature.

Gene Wiki entry for SH3GL2 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SH3GL2 Gene

Genomics for SH3GL2 Gene

Regulatory Elements for SH3GL2 Gene

Enhancers for SH3GL2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around SH3GL2 on UCSC Golden Path with GeneCards custom track

Promoters for SH3GL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for SH3GL2 Gene

Chromosome:
9
Start:
17,578,954 bp from pter
End:
17,797,129 bp from pter
Size:
218,176 bases
Orientation:
Plus strand

Genomic View for SH3GL2 Gene

Genes around SH3GL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SH3GL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SH3GL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SH3GL2 Gene

Proteins for SH3GL2 Gene

  • Protein details for SH3GL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99962-SH3G2_HUMAN
    Recommended name:
    Endophilin-A1
    Protein Accession:
    Q99962
    Secondary Accessions:
    • B2R618
    • Q9NQK5

    Protein attributes for SH3GL2 Gene

    Size:
    352 amino acids
    Molecular mass:
    39962 Da
    Quaternary structure:
    • Monomer; in cytoplasm. Homodimer; when associated with membranes (By similarity). Interacts with OPHN1 (By similarity). Interacts with SYNJ1 and DNM1. Interacts with MAP4K3; the interaction appears to regulate MAP4K3-mediated JNK activation. Interacts with PDCD6IP. Interacts with ATX2. Interacts with ADAM9 and ADAM15 cytoplasmic tails. Interacts with BIN2.
    Miscellaneous:
    • HeLa cells expressing the N-BAR domain of SH3GL2 show tubulation of the plasma membrane. The N-BAR domain binds liposomes and induces formation of tubules from liposomes. The N-terminal amphipathic helix is required for liposome binding. The second amphipathic helix enhances liposome tubulation.

    Three dimensional structures from OCA and Proteopedia for SH3GL2 Gene

neXtProt entry for SH3GL2 Gene

Post-translational modifications for SH3GL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SH3GL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SH3GL2 Gene

Domains & Families for SH3GL2 Gene

Gene Families for SH3GL2 Gene

Protein Domains for SH3GL2 Gene

Graphical View of Domain Structure for InterPro Entry

Q99962

UniProtKB/Swiss-Prot:

SH3G2_HUMAN :
  • An N-terminal amphipathic helix, the BAR domain and a second amphipathic helix inserted into helix 1 of the BAR domain (N-BAR domain) induce membrane curvature and bind curved membranes. The BAR domain dimer forms a rigid crescent shaped bundle of helices with the pair of second amphipathic helices protruding towards the membrane-binding surface.
  • Belongs to the endophilin family.
Domain:
  • An N-terminal amphipathic helix, the BAR domain and a second amphipathic helix inserted into helix 1 of the BAR domain (N-BAR domain) induce membrane curvature and bind curved membranes. The BAR domain dimer forms a rigid crescent shaped bundle of helices with the pair of second amphipathic helices protruding towards the membrane-binding surface.
  • Contains 1 BAR domain.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the endophilin family.
genes like me logo Genes that share domains with SH3GL2: view

Function for SH3GL2 Gene

Molecular function for SH3GL2 Gene

GENATLAS Biochemistry:
Src-homology 3 domain GRB2-like gene 2,expressed in the brain
UniProtKB/Swiss-Prot Function:
Implicated in synaptic vesicle endocytosis. May recruit other proteins to membranes with high curvature.

Gene Ontology (GO) - Molecular Function for SH3GL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 10531379
GO:0008289 lipid binding IEA --
GO:0042802 identical protein binding IPI 16115810
genes like me logo Genes that share ontologies with SH3GL2: view
genes like me logo Genes that share phenotypes with SH3GL2: view

Animal Models for SH3GL2 Gene

MGI Knock Outs for SH3GL2:

Animal Model Products

CRISPR Products

miRNA for SH3GL2 Gene

miRTarBase miRNAs that target SH3GL2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SH3GL2 Gene

Localization for SH3GL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SH3GL2 Gene

Cytoplasm. Membrane; Peripheral membrane protein. Note=Concentrated in presynaptic nerve terminals in neurons.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SH3GL2 Gene COMPARTMENTS Subcellular localization image for SH3GL2 gene
Compartment Confidence
cytosol 5
extracellular 5
golgi apparatus 5
plasma membrane 5
endosome 2
nucleus 2
cytoskeleton 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for SH3GL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0030669 clathrin-coated endocytic vesicle membrane TAS --
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with SH3GL2: view

Pathways & Interactions for SH3GL2 Gene

genes like me logo Genes that share pathways with SH3GL2: view

Pathways by source for SH3GL2 Gene

SIGNOR curated interactions for SH3GL2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for SH3GL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002090 regulation of receptor internalization IEA --
GO:0007018 microtubule-based movement TAS --
GO:0007165 signal transduction TAS 9169142
GO:0007417 central nervous system development TAS 9169142
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
genes like me logo Genes that share ontologies with SH3GL2: view

Drugs & Compounds for SH3GL2 Gene

No Compound Related Data Available

Transcripts for SH3GL2 Gene

mRNA/cDNA for SH3GL2 Gene

Unigene Clusters for SH3GL2 Gene

SH3-domain GRB2-like 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SH3GL2 Gene

No ASD Table

Relevant External Links for SH3GL2 Gene

GeneLoc Exon Structure for
SH3GL2
ECgene alternative splicing isoforms for
SH3GL2

Expression for SH3GL2 Gene

mRNA expression in normal human tissues for SH3GL2 Gene

mRNA differential expression in normal tissues according to GTEx for SH3GL2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x9.2), Brain - Cerebellum (x7.4), Brain - Frontal Cortex (BA9) (x7.2), Brain - Anterior cingulate cortex (BA24) (x5.6), and Brain - Cortex (x5.4).

Protein differential expression in normal tissues from HIPED for SH3GL2 Gene

This gene is overexpressed in Brain (32.8), Frontal cortex (22.0), and Spinal cord (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SH3GL2 Gene



Protein tissue co-expression partners for SH3GL2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SH3GL2 Gene:

SH3GL2

SOURCE GeneReport for Unigene cluster for SH3GL2 Gene:

Hs.75149

mRNA Expression by UniProt/SwissProt for SH3GL2 Gene:

Q99962-SH3G2_HUMAN
Tissue specificity: Brain, mostly in frontal cortex. Expressed at high level in fetal cerebellum.
genes like me logo Genes that share expression patterns with SH3GL2: view

Primer Products

Orthologs for SH3GL2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SH3GL2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SH3GL2 34
  • 92.8 (n)
  • 98.3 (a)
SH3GL2 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SH3GL2 34
  • 93.12 (n)
  • 97.64 (a)
SH3GL2 35
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sh3gl2 34
  • 90.53 (n)
  • 98.86 (a)
Sh3gl2 16
Sh3gl2 35
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SH3GL2 34
  • 99.91 (n)
  • 100 (a)
SH3GL2 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sh3gl2 34
  • 90.15 (n)
  • 98.58 (a)
oppossum
(Monodelphis domestica)
Mammalia SH3GL2 35
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SH3GL2 35
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves SH3GL2 34
  • 84.75 (n)
  • 90.62 (a)
SH3GL2 35
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 89 (a)
OneToMany
-- 35
  • 80 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia sh3gl2 34
  • 78.41 (n)
  • 88.54 (a)
Str.12799 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.5796 34
zebrafish
(Danio rerio)
Actinopterygii LOC794400 34
  • 71.82 (n)
  • 78.51 (a)
zgc55616 34
sh3gl2 35
  • 76 (a)
OneToMany
SH3GL2 (2 of 2) 35
  • 74 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta endoA 36
  • 48 (a)
endoA 35
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T04D1.3 36
  • 47 (a)
unc-57 35
  • 43 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11015 34
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC19C2.10 34
  • 41.74 (n)
  • 28.23 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 51 (a)
OneToMany
Species where no ortholog for SH3GL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SH3GL2 Gene

ENSEMBL:
Gene Tree for SH3GL2 (if available)
TreeFam:
Gene Tree for SH3GL2 (if available)

Paralogs for SH3GL2 Gene

Paralogs for SH3GL2 Gene

genes like me logo Genes that share paralogs with SH3GL2: view

Variants for SH3GL2 Gene

Sequence variations from dbSNP and Humsavar for SH3GL2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs140860 -- 17,740,786(+) ATTTA(-/AATTA)TGATT intron-variant
rs7851834 -- 17,620,331(+) AGGAA(A/C/T)AAGTG intron-variant
rs7851916 -- 17,620,246(+) TATAT(A/G)CCTAA intron-variant
rs7852041 -- 17,620,336(+) CAAGT(G/T)TATAA intron-variant
rs7852117 -- 17,678,876(+) ccatt(C/T)attaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SH3GL2 Gene

Variant ID Type Subtype PubMed ID
dgv12581n54 CNV gain 21841781
dgv12582n54 CNV gain 21841781
dgv1329e199 CNV deletion 23128226
dgv1457e214 CNV gain 21293372
dgv1458e214 CNV loss 21293372
dgv2139e212 CNV gain 25503493
dgv7466n100 CNV gain 25217958
dgv7467n100 CNV loss 25217958
dgv7468n100 CNV loss 25217958
dgv928n27 CNV gain 19166990
esv1357911 CNV insertion 17803354
esv2422265 CNV duplication 17116639
esv26279 CNV gain 19812545
esv2738245 CNV deletion 23290073
esv2752287 CNV gain 17911159
esv2764160 CNV gain 21179565
esv29156 CNV gain 19812545
esv3304831 CNV mobile element insertion 20981092
esv3308093 CNV mobile element insertion 20981092
esv3308218 CNV mobile element insertion 20981092
esv3329954 CNV insertion 20981092
esv3389753 CNV insertion 20981092
esv3393979 CNV insertion 20981092
esv3573159 CNV loss 25503493
esv3619849 CNV loss 21293372
esv3619853 CNV loss 21293372
nsv1015153 CNV gain 25217958
nsv1033892 CNV loss 25217958
nsv1125965 CNV tandem duplication 24896259
nsv1140958 CNV deletion 24896259
nsv1147263 OTHER inversion 26484159
nsv466269 CNV gain 19166990
nsv466279 CNV loss 19166990
nsv471287 CNV gain 18288195
nsv510185 OTHER sequence alteration 20534489
nsv517380 CNV gain+loss 19592680
nsv613693 CNV gain 21841781
nsv613701 CNV gain 21841781
nsv613705 CNV loss 21841781

Variation tolerance for SH3GL2 Gene

Residual Variation Intolerance Score: 28.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.91; 18.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SH3GL2 Gene

Human Gene Mutation Database (HGMD)
SH3GL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SH3GL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SH3GL2 Gene

Disorders for SH3GL2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SH3GL2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
childhood pilocytic astrocytoma
  • pediatric pilocytic astrocytoma
vulva cancer
  • ca vulva
vulva squamous cell carcinoma
  • squamous cell carcinoma of vulva
spinocerebellar ataxia 2
  • amyotrophic lateral sclerosis 13
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SH3GL2

Genetic Association Database (GAD)
SH3GL2
Human Genome Epidemiology (HuGE) Navigator
SH3GL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SH3GL2
genes like me logo Genes that share disorders with SH3GL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SH3GL2 Gene

Publications for SH3GL2 Gene

  1. A novel SH3-containing human gene family preferentially expressed in the central nervous system. (PMID: 9169142) Giachino C. … Migone N. (Genomics 1997) 2 3 4 65
  2. Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. (PMID: 22451204) Pankratz N. … Foroud T. (Ann. Neurol. 2012) 3 46 65
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65
  4. 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. (PMID: 20445134) Smith N.L. … Vasan R.S. (Circ Cardiovasc Genet 2010) 3 46 65
  5. SH3GL2 gene participates in MEK-ERK signal pathway partly by regulating EGFR in the laryngeal carcinoma cell line Hep2. (PMID: 20512084) Shang C. … Sun K. (Med. Sci. Monit. 2010) 3 22 65

Products for SH3GL2 Gene

Sources for SH3GL2 Gene

Content
Loading form....