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Aliases for SH3GL2 Gene

Aliases for SH3GL2 Gene

  • SH3-Domain GRB2-Like 2 2 3
  • SH3 Domain-Containing GRB2-Like Protein 2 3 4
  • SH3 Domain Protein 2A 3 4
  • Endophilin-1 3 4
  • EEN-B1 3 4
  • SH3D2A 3 4
  • SH3P4 3 6
  • CNSA2 3 4
  • BA335L15.1 (SH3-Domain GRB2-Like 2) 3
  • Endophilin A1 BAR Domain 3
  • Endophilin-A1 3

External Ids for SH3GL2 Gene

Summaries for SH3GL2 Gene

GeneCards Summary for SH3GL2 Gene

SH3GL2 (SH3-Domain GRB2-Like 2) is a Protein Coding gene. Among its related pathways are Signaling by FGFR and Signaling by FGFR. GO annotations related to this gene include identical protein binding and lipid binding. An important paralog of this gene is SH3GLB2.

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

Genomic Location for SH3GL2 Gene

Start:
17,578,955 bp from pter
End:
17,797,129 bp from pter
Size:
218,175 bases
Orientation:
Plus strand

Genomic View for SH3GL2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SH3GL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SH3GL2 Gene

Regulatory Elements 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

Proteomics data for SH3GL2 Gene at MOPED

Post-translational modifications for SH3GL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SH3GL2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SH3GL2 Gene

Domains for SH3GL2 Gene

Protein Domains for SH3GL2 Gene

UniProtKB/Swiss-Prot:

SH3G2_HUMAN
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.:
    • Q99962
  • Contains 1 BAR domain.:
    • Q99962
  • Contains 1 SH3 domain.:
    • Q99962
Family:
  • Belongs to the endophilin family.:
    • Q99962
genes like me logo Genes that share domains with SH3GL2: view

No data available for Gene Families for SH3GL2 Gene

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 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:

miRNA for SH3GL2 Gene

miRTarBase miRNAs that target SH3GL2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 4
golgi apparatus 4
plasma membrane 4
nucleus 2
endosome 1

Gene Ontology (GO) - Cellular Components for SH3GL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0030669 clathrin-coated endocytic vesicle membrane TAS --
genes like me logo Genes that share ontologies with SH3GL2: view

Pathways for SH3GL2 Gene

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

Gene Ontology (GO) - Biological Process for SH3GL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002090 regulation of receptor internalization IEA --
GO:0006892 post-Golgi vesicle-mediated transport TAS --
GO:0007165 signal transduction TAS 9169142
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0007411 axon guidance TAS --
genes like me logo Genes that share ontologies with SH3GL2: view

Transcripts for SH3GL2 Gene

mRNA/cDNA for SH3GL2 Gene

Unigene Clusters for SH3GL2 Gene

SH3-domain GRB2-like 2:
Representative Sequences:

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 (9.2), Brain - Cerebellum (7.4), Brain - Frontal Cortex (BA9) (7.2), Brain - Anterior cingulate cortex (BA24) (5.6), and Brain - Cortex (5.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SH3GL2 Gene

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 expressions with SH3GL2: view

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
chimpanzee
(Pan troglodytes)
Mammalia SH3GL2 36
  • 99.91 (n)
  • 100 (a)
SH3GL2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SH3GL2 36
  • 92.8 (n)
  • 98.3 (a)
SH3GL2 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SH3GL2 36
  • 93.12 (n)
  • 97.64 (a)
SH3GL2 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sh3gl2 36
  • 90.53 (n)
  • 98.86 (a)
Sh3gl2 16
Sh3gl2 37
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SH3GL2 37
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SH3GL2 37
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sh3gl2 36
  • 90.15 (n)
  • 98.58 (a)
chicken
(Gallus gallus)
Aves SH3GL2 36
  • 84.75 (n)
  • 90.62 (a)
SH3GL2 37
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 89 (a)
OneToMany
-- 37
  • 80 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.5796 36
tropical clawed frog
(Silurana tropicalis)
Amphibia sh3gl2 36
  • 78.41 (n)
  • 88.54 (a)
Str.12799 36
zebrafish
(Danio rerio)
Actinopterygii LOC794400 36
  • 71.82 (n)
  • 78.51 (a)
sh3gl2 37
  • 76 (a)
OneToMany
SH3GL2 (2 of 2) 37
  • 74 (a)
OneToMany
zgc55616 36
fruit fly
(Drosophila melanogaster)
Insecta endoA 37
  • 48 (a)
OneToMany
endoA 38
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-57 37
  • 43 (a)
OneToMany
T04D1.3 38
  • 47 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC19C2.10 36
  • 41.74 (n)
  • 28.23 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11015 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 51 (a)
OneToMany
Species with no ortholog for SH3GL2:
  • 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 MAF
rs140860 -- 17,740,786(+) ATTTA(-/AATTA)TGATT intron-variant
rs717372 -- 17,699,983(-) CTGGT(A/G)CATCT intron-variant
rs717373 -- 17,699,911(-) AACAT(A/G)ACTCC intron-variant
rs717374 -- 17,699,849(-) GTTCA(A/T)CGTGA intron-variant
rs720268 -- 17,738,859(-) tgggt(A/G)ggcct intron-variant

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

Variant ID Type Subtype PubMed ID
nsv471287 CNV Gain 18288195
nsv466269 CNV Gain 19166990
nsv892671 CNV Gain 21882294
esv2422265 CNV Duplication 17116639
nsv517380 CNV Gain+Loss 19592680
nsv892672 CNV Gain 21882294
esv26279 CNV Gain 19812545
dgv928n27 CNV Gain 19166990
nsv892673 CNV Gain 21882294
esv2752287 CNV Gain 17911159
esv2738245 CNV Deletion 23290073
nsv892674 CNV Gain 21882294
nsv892675 CNV Gain 21882294
esv272492 CNV Insertion 20981092
esv272367 CNV Insertion 20981092
nsv466279 CNV Loss 19166990
esv269109 CNV Insertion 20981092
dgv1329e199 CNV Deletion 23128226
nsv510185 CNV Loss 20534489
esv1357911 CNV Insertion 17803354
esv29156 CNV Gain 19812545

Relevant External Links for SH3GL2 Gene

HapMap Linkage Disequilibrium report
SH3GL2

Disorders for SH3GL2 Gene

Relevant External Links for SH3GL2

Genetic Association Database (GAD)
SH3GL2
Human Genome Epidemiology (HuGE) Navigator
SH3GL2
genes like me logo Genes that share disorders with SH3GL2: view

No data available for UniProtKB/Swiss-Prot 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
  2. Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking. (PMID: 18602463) Nonis D. … Auburger G. (Cell. Signal. 2008) 3 4
  3. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PMID: 19010793) Baranzini S.E. … Oksenberg J.R. (Hum. Mol. Genet. 2009) 3 49
  4. A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. (PMID: 19734545) Need A.C. … Goldstein D.B. (Hum. Mol. Genet. 2009) 3 49
  5. 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 49

Products for SH3GL2 Gene

Sources for SH3GL2 Gene

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