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Aliases for SH3GL3 Gene

Aliases for SH3GL3 Gene

  • SH3 Domain Containing GRB2 Like 3, Endophilin A3 2 3 5
  • SH3 Domain-Containing GRB2-Like Protein 3 3 4
  • SH3 Domain Containing GRB2 Like 3 2 3
  • SH3 Domain Protein 2C 3 4
  • Endophilin-3 3 4
  • EEN-B2 3 4
  • SH3D2C 3 4
  • CNSA3 3 4
  • SH3 Domain Containing GRB2 Like Endophilin A3 3
  • SH3-Domain GRB2-Like 3 3
  • Endophilin A3 2
  • Endophilin-A3 3
  • HsT19371 3
  • SH3P13 3

External Ids for SH3GL3 Gene

Previous GeneCards Identifiers for SH3GL3 Gene

  • GC15P080042
  • GC15P077149
  • GC15P081694
  • GC15P081836
  • GC15P081907
  • GC15P084115
  • GC15P060379

Summaries for SH3GL3 Gene

GeneCards Summary for SH3GL3 Gene

SH3GL3 (SH3 Domain Containing GRB2 Like 3, Endophilin A3) is a Protein Coding gene. Diseases associated with SH3GL3 include Huntington Disease. Among its related pathways are Vesicle-mediated transport and EGFR downregulation. 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 SH3GL3 Gene

  • Implicated in endocytosis. May recruit other proteins to membranes with high curvature (By similarity).

Gene Wiki entry for SH3GL3 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SH3GL3 Gene

Genomics for SH3GL3 Gene

Regulatory Elements for SH3GL3 Gene

Enhancers for SH3GL3 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
GH15F083446 0.6 ENCODE 9.6 +0.1 67 1.5 CREB3L1 SIN3A ZNF2 GLIS2 FOS ZNF202 ZNF263 SP3 REST SMARCB1 C15orf40 SNHG21 WHAMM GOLGA6L4 SH3GL3 GOLGA2P7 GC15M083457
GH15F083439 0.2 ENCODE 7.1 -7.1 -7136 0.8 SCRT1 CTCF GATA3 ZNF654 SCRT2 KDM1A RAD21 ZNF18 BNC1 SH3GL3 LOC105370934
GH15F083587 0.9 FANTOM5 ENCODE 3.8 +140.4 140414 0.9 RN7SL331P SH3GL3 GC15P083593 GC15P083571
GH15F083200 0.9 FANTOM5 ENCODE 3.1 -246.7 -246663 1.5 ZNF664 MTA2 IKZF1 NBN ZBTB33 RELA BTBD1 C15orf40 TM6SF1 BNC1 AP3B2 ENSG00000260351 SH3GL3 HDGFRP3 LOC105370930
GH15F083448 0.5 ENCODE 0.8 +1.1 1052 0.0 PKNOX1 KLF17 ZMYM3 SIN3A ZIC2 ZNF101 ZNF121 ZFHX2 GLIS2 ZNF366 SH3GL3 GC15M083457
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SH3GL3 on UCSC Golden Path with GeneCards custom track

Promoters for SH3GL3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000412572 377 1401 PKNOX1 SIN3A ZNF2 ZNF121 GLIS2 FOS ZNF202 ZNF263 SP3 REST

Genomic Location for SH3GL3 Gene

Chromosome:
15
Start:
83,447,123 bp from pter
End:
83,618,743 bp from pter
Size:
171,621 bases
Orientation:
Plus strand

Genomic View for SH3GL3 Gene

Genes around SH3GL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SH3GL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SH3GL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SH3GL3 Gene

Proteins for SH3GL3 Gene

  • Protein details for SH3GL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99963-SH3G3_HUMAN
    Recommended name:
    Endophilin-A3
    Protein Accession:
    Q99963
    Secondary Accessions:
    • O43553
    • O43554

    Protein attributes for SH3GL3 Gene

    Size:
    347 amino acids
    Molecular mass:
    39285 Da
    Quaternary structure:
    • Interacts with ARC (By similarity). Interacts with DNM1, SGIP1 and SYNJ1. Interacts with the huntingtin exon 1 protein (HDEX1P) containing a glutamine repeat in the pathological range and promotes formation of insoluble polyglutamine-containing aggregates in vivo. Interacts with DYDC1. Interacts with FASLG. Interacts with ATX2. Interacts with BIN2.

    Three dimensional structures from OCA and Proteopedia for SH3GL3 Gene

    Alternative splice isoforms for SH3GL3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SH3GL3 Gene

Post-translational modifications for SH3GL3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SH3GL3 Gene

Domains & Families for SH3GL3 Gene

Gene Families for SH3GL3 Gene

Protein Domains for SH3GL3 Gene

Suggested Antigen Peptide Sequences for SH3GL3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99963

UniProtKB/Swiss-Prot:

SH3G3_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.
  • 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.
  • Contains 1 BAR domain.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the endophilin family.
genes like me logo Genes that share domains with SH3GL3: view

Function for SH3GL3 Gene

Molecular function for SH3GL3 Gene

GENATLAS Biochemistry:
Src-homology 3 domain GRB2-like gene 3,expressed in brain and testis
UniProtKB/Swiss-Prot Function:
Implicated in endocytosis. May recruit other proteins to membranes with high curvature (By similarity).

Gene Ontology (GO) - Molecular Function for SH3GL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15383276
GO:0008289 lipid binding IEA --
GO:0042802 identical protein binding IPI 16115810
genes like me logo Genes that share ontologies with SH3GL3: view
genes like me logo Genes that share phenotypes with SH3GL3: view

Animal Models for SH3GL3 Gene

MGI Knock Outs for SH3GL3:

Animal Model Products

miRNA for SH3GL3 Gene

miRTarBase miRNAs that target SH3GL3

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SH3GL3 Gene

Localization for SH3GL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SH3GL3 Gene

Cytoplasm. Early endosome membrane; Peripheral membrane protein. Note=Associated with postsynaptic endosomes in hippocampal neurons. Associated with presynaptic endosomes in olfactory neurons. {ECO:0000250 UniProtKB:O35180}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SH3GL3 Gene COMPARTMENTS Subcellular localization image for SH3GL3 gene
Compartment Confidence
extracellular 5
cytosol 3
endosome 3
nucleus 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SH3GL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA --
GO:0016020 membrane IEA --
GO:0031901 early endosome membrane IEA --
genes like me logo Genes that share ontologies with SH3GL3: view

Pathways & Interactions for SH3GL3 Gene

genes like me logo Genes that share pathways with SH3GL3: view

Pathways by source for SH3GL3 Gene

1 KEGG pathway for SH3GL3 Gene

Gene Ontology (GO) - Biological Process for SH3GL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0007165 signal transduction TAS 9169142
GO:0007417 central nervous system development TAS 9169142
genes like me logo Genes that share ontologies with SH3GL3: view

No data available for SIGNOR curated interactions for SH3GL3 Gene

Drugs & Compounds for SH3GL3 Gene

(1) Drugs for SH3GL3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SH3GL3: view

Transcripts for SH3GL3 Gene

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SH3GL3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1: - -
SP2: - - - -
SP3: - - - - -
SP4: - - - - - -
SP5: - - -

Relevant External Links for SH3GL3 Gene

GeneLoc Exon Structure for
SH3GL3
ECgene alternative splicing isoforms for
SH3GL3

Expression for SH3GL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SH3GL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SH3GL3 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x6.5), Brain - Hippocampus (x5.5), Brain - Substantia nigra (x5.1), Brain - Amygdala (x4.5), and Brain - Hypothalamus (x4.1).

Protein differential expression in normal tissues from HIPED for SH3GL3 Gene

This gene is overexpressed in Brain (39.0) and Frontal cortex (22.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SH3GL3 Gene



Protein tissue co-expression partners for SH3GL3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SH3GL3 Gene:

SH3GL3

SOURCE GeneReport for Unigene cluster for SH3GL3 Gene:

Hs.270055

mRNA Expression by UniProt/SwissProt for SH3GL3 Gene:

Q99963-SH3G3_HUMAN
Tissue specificity: Brain and testis.
genes like me logo Genes that share expression patterns with SH3GL3: view

Primer Products

Orthologs for SH3GL3 Gene

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

Orthologs for SH3GL3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SH3GL3 34 35
  • 99.42 (n)
dog
(Canis familiaris)
Mammalia SH3GL3 34 35
  • 93.07 (n)
cow
(Bos Taurus)
Mammalia SH3GL3 34 35
  • 92.03 (n)
mouse
(Mus musculus)
Mammalia Sh3gl3 34 16 35
  • 87.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SH3GL3 35
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sh3gl3 34
  • 85.79 (n)
oppossum
(Monodelphis domestica)
Mammalia SH3GL3 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves SH3GL3 34 35
  • 78.67 (n)
lizard
(Anolis carolinensis)
Reptilia SH3GL3 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sh3gl3 34
  • 74.18 (n)
zebrafish
(Danio rerio)
Actinopterygii sh3gl3a 34
  • 71.95 (n)
sh3gl3b 35
  • 57 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004766 34
  • 58.16 (n)
fruit fly
(Drosophila melanogaster)
Insecta endoA 36 34 35
  • 56.98 (n)
worm
(Caenorhabditis elegans)
Secernentea unc-57 34 35
  • 54.52 (n)
T04D1.3 36
  • 50 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 51 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mug137 34
  • 45.25 (n)
Species where no ortholog for SH3GL3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 SH3GL3 Gene

ENSEMBL:
Gene Tree for SH3GL3 (if available)
TreeFam:
Gene Tree for SH3GL3 (if available)

Paralogs for SH3GL3 Gene

Paralogs for SH3GL3 Gene

(3) SIMAP similar genes for SH3GL3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SH3GL3: view

Variants for SH3GL3 Gene

Sequence variations from dbSNP and Humsavar for SH3GL3 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1004120 -- 83,598,583(+) ATTCA(A/G)TGCCA intron-variant
rs10048061 -- 83,522,674(+) AATTA(C/G)TAAAT intron-variant
rs10152284 -- 83,488,522(+) GCCCA(C/T)ATGGT intron-variant
rs10152514 -- 83,583,309(+) TCCCC(A/T)GGTAA intron-variant, utr-variant-3-prime
rs10152516 -- 83,510,132(+) ATTCA(A/G)TGCTT intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SH3GL3 Gene

Variant ID Type Subtype PubMed ID
esv2662956 CNV deletion 23128226
esv2749961 CNV deletion 23290073
esv2749962 CNV deletion 23290073
esv3552774 CNV deletion 23714750
esv3630 CNV loss 18987735
esv3637073 CNV loss 21293372
esv3637074 CNV loss 21293372
esv3637076 CNV loss 21293372
esv5633 CNV loss 19470904
nsv1120052 OTHER inversion 24896259
nsv1642 CNV deletion 18451855
nsv457216 CNV loss 19166990
nsv476056 CNV novel sequence insertion 20440878
nsv570258 CNV loss 21841781
nsv833072 CNV gain 17160897
nsv957998 CNV deletion 24416366

Variation tolerance for SH3GL3 Gene

Residual Variation Intolerance Score: 24.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.49; 10.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SH3GL3 Gene

Human Gene Mutation Database (HGMD)
SH3GL3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SH3GL3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SH3GL3 Gene

Disorders for SH3GL3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SH3GL3 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
huntington disease
  • congenital anomalies of kidney and urinary tract 2
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SH3GL3

Genetic Association Database (GAD)
SH3GL3
Human Genome Epidemiology (HuGE) Navigator
SH3GL3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SH3GL3
genes like me logo Genes that share disorders with SH3GL3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SH3GL3 Gene

Publications for SH3GL3 Gene

  1. SH3GL3 associates with the Huntingtin exon 1 protein and promotes the formation of polygln-containing protein aggregates. (PMID: 9809064) Sittler A. … Wanker E.E. (Mol. Cell 1998) 3 4 22 64
  2. 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 64
  3. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J. … Grant S.F. (BMC Med. Genet. 2010) 3 46 64
  4. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. (PMID: 19266077) Sovio U. … Jarvelin M.R. (PLoS Genet. 2009) 3 46 64
  5. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PMID: 19807924) Voss M. … Janssen O. (BMC Immunol. 2009) 3 4 64

Products for SH3GL3 Gene

Sources for SH3GL3 Gene

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