Aliases for SH3GL3 Gene

Aliases for SH3GL3 Gene

  • SH3 Domain Containing GRB2 Like 3, Endophilin A3 2 3 5
  • EEN-B2 2 3 4
  • SH3D2C 2 3 4
  • CNSA3 2 3 4
  • SH3 Domain-Containing GRB2-Like Protein 3 3 4
  • SH3 Domain Protein 2C 3 4
  • Endophilin-A3 3 4
  • Endophilin-3 3 4
  • HsT19371 2 3
  • SH3P13 2 3
  • SH3 Domain Containing GRB2 Like Endophilin A3 3
  • SH3 Domain Containing GRB2 Like 3 2
  • SH3-Domain GRB2-Like 3 3
  • Endophilin A3 2
  • SH3GL3 5

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 Autosomal Recessive Congenital Cerebellar Ataxia and Huntington Disease. Among its related pathways are Signaling by GPCR and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include identical protein binding and lipid binding. An important paralog of this gene is SH3GL1.

UniProtKB/Swiss-Prot Summary 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 , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SH3GL3 Gene

Genomics for SH3GL3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SH3GL3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J083446 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 259.5 +0.5 492 2.4 ZBTB10 MNT MBD2 ZNF217 CTCF BHLHE40 ZBTB7B NONO ZIC2 SIN3A SH3GL3 WHAMM C15orf40 GOLGA6L4 RAMAC SNHG21 LOC103171574 CSPG4P11 GOLGA2P7 piR-39858-223
GH15J082749 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.1 -696.3 -696322 3.6 CHD2 TBP MXD4 MNT IKZF1 SMAD5 ETS1 MBD2 ZNF217 POLR2A WHAMM ENSG00000286817 SNHG21 C15orf40 HDGFL3 CPEB1 AP3B2 FSD2 RPL9P8 HOMER2
GH15J083511 Enhancer 0.6 dbSUPER 11.2 +67.0 66950 5.8 ZNF316 FOSL1 NFE2 MAFG CEBPG NR2F1 ATF2 ZNF398 CREB1 ATF3 WHAMM C15orf40 SH3GL3 ENSG00000260579 GOLGA2P7 piR-45012-210 NONHSAG017696.2 ADAMTSL3
GH15J083486 Enhancer 0.5 dbSUPER 12.4 +42.4 42355 5.4 CUX1 MCM7 GMEB1 CREB1 DACH1 ZNF24 KDM1A GATAD2B ZBTB2 SH3GL3 GOLGA2P7 piR-45012-210 NONHSAG017696.2 ADAMTSL3
GH15J083507 Enhancer 0.3 dbSUPER 16.8 +62.4 62350 3.2 CEBPG SH3GL3 ENSG00000260579 piR-45012-210 NONHSAG017696.2 ADAMTSL3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SH3GL3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SH3GL3

Top Transcription factor binding sites by QIAGEN in the SH3GL3 gene promoter:
  • AhR
  • AML1a
  • AREB6
  • Arnt
  • HOXA5
  • Ik-2
  • Nkx6-1
  • Sox5
  • YY1

Genomic Locations for SH3GL3 Gene

Latest Assembly
chr15:83,447,123-83,618,743
(GRCh38/hg38)
Size:
171,621 bases
Orientation:
Plus strand

Previous Assembly
chr15:84,116,093-84,287,495
(GRCh37/hg19 by Entrez Gene)
Size:
171,403 bases
Orientation:
Plus strand

chr15:84,115,980-84,287,495
(GRCh37/hg19 by Ensembl)
Size:
171,516 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SH3GL3 Gene

Suggested Antigen Peptide Sequences for SH3GL3 Gene

GenScript: Design optimal peptide antigens:
  • SH3 domain-containing GRB2-like protein 3 (SH3G3_HUMAN)

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.
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

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

Phenotypes From GWAS Catalog for SH3GL3 Gene

Gene Ontology (GO) - Molecular Function for SH3GL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15383276
GO:0008022 protein C-terminus binding IEA --
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:

miRNA for SH3GL3 Gene

miRTarBase miRNAs that target SH3GL3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SH3GL3

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SH3GL3 gene
Compartment Confidence
endosome 4
nucleus 3
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SH3GL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA --
GO:0016020 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
GO:0045666 positive regulation of neuron differentiation IEA --
GO:1900186 negative regulation of clathrin-dependent endocytosis IEA --
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

mRNA/cDNA for SH3GL3 Gene

9 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SH3GL3

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

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, MaxQB, and MOPED for SH3GL3 Gene



Protein tissue co-expression partners for SH3GL3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for SH3GL3 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with SH3GL3: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SH3GL3 Gene

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 30 31
  • 99.42 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SH3GL3 30 31
  • 93.07 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SH3GL3 30 31
  • 92.03 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sh3gl3 30 17 31
  • 87.19 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SH3GL3 31
  • 86 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sh3gl3 30
  • 85.79 (n)
Oppossum
(Monodelphis domestica)
Mammalia SH3GL3 31
  • 58 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SH3GL3 30 31
  • 78.67 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SH3GL3 31
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sh3gl3 30
  • 74.18 (n)
Zebrafish
(Danio rerio)
Actinopterygii sh3gl3a 30
  • 71.95 (n)
sh3gl3b 31
  • 57 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004766 30
  • 58.16 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta endoA 30 31 32
  • 56.98 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea unc-57 30 31
  • 54.52 (n)
OneToMany
T04D1.3 32
  • 50 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 51 (a)
OneToMany
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mug137 30
  • 45.25 (n)
Species where no ortholog for SH3GL3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SH3GL3: view image

Paralogs for SH3GL3 Gene

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

  • SH3G3_HUMAN
  • H3BRH8_HUMAN
  • Q8IVP1_HUMAN
genes like me logo Genes that share paralogs with SH3GL3: view

Variants for SH3GL3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SH3GL3 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs1473247197 Uncertain Significance: not provided 83,618,217(+) G/A
NM_003027.5(SH3GL3):c.974G>A (p.Gly325Glu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SH3GL3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for SH3GL3 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for SH3GL3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SH3GL3 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SH3GL3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 EE (Molecular cell 1998) 3 4 23
  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
  3. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J … Grant SF (BMC medical genetics 2010) 3 41
  4. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PMID: 19807924) Voss M … Janssen O (BMC immunology 2009) 3 4
  5. Interaction of SH3P13 and DYDC1 protein: a germ cell component that regulates acrosome biogenesis during spermiogenesis. (PMID: 19545932) Li S … Wang L (European journal of cell biology 2009) 4 23

Products for SH3GL3 Gene

Sources for SH3GL3 Gene