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Aliases for SH3BGRL2 Gene

Aliases for SH3BGRL2 Gene

  • SH3 Domain Binding Glutamate Rich Protein Like 2 2 3 5
  • SH3 Domain Binding Glutamic Acid-Rich Protein Like 2 2
  • Fovea-Associated SH3 Domain-Binding Protein 4
  • FASH3 4

External Ids for SH3BGRL2 Gene

Previous GeneCards Identifiers for SH3BGRL2 Gene

  • GC06P080283
  • GC06P080336
  • GC06P080397
  • GC06P077561

Summaries for SH3BGRL2 Gene

GeneCards Summary for SH3BGRL2 Gene

SH3BGRL2 (SH3 Domain Binding Glutamate Rich Protein Like 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include SH3 domain binding and protein disulfide oxidoreductase activity. An important paralog of this gene is SH3BGR.

Additional gene information for SH3BGRL2 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SH3BGRL2 Gene

Genomics for SH3BGRL2 Gene

GeneHancer (GH) Regulatory Elements for SH3BGRL2 Gene

Promoters and enhancers for SH3BGRL2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I079630 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 562.5 +0.2 159 2.1 PKNOX1 CLOCK ATF1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 SH3BGRL2 PIR54042
GH06I079632 Enhancer 0.9 Ensembl ENCODE 550.8 +1.5 1454 0.3 SAP130 RAD21 ZNF335 ZNF316 NFE2 PRDM10 MAFK THAP11 NFE2L2 SMARCE1 SH3BGRL2 PIR54042
GH06I079536 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 9.8 -93.4 -93417 3.3 HDGF PKNOX1 ARID4B SIN3A ZNF2 YY1 POLR2B ZNF766 ZNF213 ZNF207 LCA5 PHIP SH3BGRL2 ENSG00000261970
GH06I079543 Enhancer 1.4 Ensembl ENCODE dbSUPER 14.5 -86.0 -86049 4.1 PKNOX1 ARNT NEUROD1 SIN3A FEZF1 ZNF2 ZNF766 E2F8 FOS DEK SH3BGRL2 LCA5 ENSG00000261970
GH06I079599 Enhancer 1.1 Ensembl ENCODE 17.2 -30.6 -30628 2.4 PKNOX1 FOXA2 ARNT FEZF1 ZNF2 TCF12 ZNF213 GATA2 FOS TSHZ1 SH3BGRL2 PHIP LCA5 ENSG00000279659
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SH3BGRL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SH3BGRL2 gene promoter:

Genomic Locations for SH3BGRL2 Gene

Genomic Locations for SH3BGRL2 Gene
72,388 bases
Plus strand

Genomic View for SH3BGRL2 Gene

Genes around SH3BGRL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SH3BGRL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SH3BGRL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SH3BGRL2 Gene

Proteins for SH3BGRL2 Gene

  • Protein details for SH3BGRL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    SH3 domain-binding glutamic acid-rich-like protein 2
    Protein Accession:
    Secondary Accessions:
    • A8MQU2
    • Q2VPC2
    • Q5VV96
    • Q6NSK8
    • Q6P9E8
    • Q7Z734
    • Q8IWD3
    • Q9BPY5

    Protein attributes for SH3BGRL2 Gene

    107 amino acids
    Molecular mass:
    12326 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for SH3BGRL2 Gene

neXtProt entry for SH3BGRL2 Gene

Post-translational modifications for SH3BGRL2 Gene

  • Ubiquitination at isoforms=98
  • Modification sites at PhosphoSitePlus

Other Protein References for SH3BGRL2 Gene

No data available for DME Specific Peptides for SH3BGRL2 Gene

Domains & Families for SH3BGRL2 Gene

Gene Families for SH3BGRL2 Gene

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

Protein Domains for SH3BGRL2 Gene

Suggested Antigen Peptide Sequences for SH3BGRL2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the SH3BGR family.
  • Belongs to the SH3BGR family.
genes like me logo Genes that share domains with SH3BGRL2: view

Function for SH3BGRL2 Gene

Phenotypes From GWAS Catalog for SH3BGRL2 Gene

Gene Ontology (GO) - Molecular Function for SH3BGRL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with SH3BGRL2: view

Phenotypes for SH3BGRL2 Gene

genes like me logo Genes that share phenotypes with SH3BGRL2: view

Animal Model Products

miRNA for SH3BGRL2 Gene

miRTarBase miRNAs that target SH3BGRL2

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SH3BGRL2 Gene

Localization for SH3BGRL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SH3BGRL2 Gene

Subcellular locations from

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 SH3BGRL2 gene
Compartment Confidence
extracellular 5
nucleus 5
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SH3BGRL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA --
GO:0031965 nuclear membrane IDA --
GO:0070062 extracellular exosome IDA,HDA 23376485
genes like me logo Genes that share ontologies with SH3BGRL2: view

Pathways & Interactions for SH3BGRL2 Gene

SuperPathways for SH3BGRL2 Gene

No Data Available

Interacting Proteins for SH3BGRL2 Gene

Gene Ontology (GO) - Biological Process for SH3BGRL2 Gene


No data available for Pathways by source and SIGNOR curated interactions for SH3BGRL2 Gene

Drugs & Compounds for SH3BGRL2 Gene

(1) Drugs for SH3BGRL2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SH3BGRL2: view

Transcripts for SH3BGRL2 Gene

mRNA/cDNA for SH3BGRL2 Gene

Unigene Clusters for SH3BGRL2 Gene

SH3 domain binding glutamic acid-rich protein like 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SH3BGRL2 Gene

No ASD Table

Relevant External Links for SH3BGRL2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SH3BGRL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SH3BGRL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SH3BGRL2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (18.7), Cervix (10.9), Salivary gland (7.7), and Platelet (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SH3BGRL2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SH3BGRL2 Gene:


SOURCE GeneReport for Unigene cluster for SH3BGRL2 Gene:


mRNA Expression by UniProt/SwissProt for SH3BGRL2 Gene:

Tissue specificity: Highly expressed in brain, placenta, liver and kidney. Expressed in retina.

Evidence on tissue expression from TISSUES for SH3BGRL2 Gene

  • Nervous system(4.7)
  • Eye(4.2)
genes like me logo Genes that share expression patterns with SH3BGRL2: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SH3BGRL2 Gene

Orthologs for SH3BGRL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SH3BGRL2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SH3BGRL2 33 34
  • 99.69 (n)
(Monodelphis domestica)
Mammalia SH3BGRL2 34
  • 95 (a)
(Canis familiaris)
Mammalia LOC474977 33
  • 94.39 (n)
  • 93 (a)
(Bos Taurus)
Mammalia SH3BGRL2 33 34
  • 92.45 (n)
(Mus musculus)
Mammalia Sh3bgrl2 33 16 34
  • 88.47 (n)
(Rattus norvegicus)
Mammalia LOC102554622 33
  • 87.85 (n)
(Ornithorhynchus anatinus)
Mammalia SH3BGRL2 34
  • 77 (a)
(Gallus gallus)
Aves SH3BGRL2 33 34
  • 80.77 (n)
(Anolis carolinensis)
Reptilia SH3BGRL2 34
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sh3bgrl2 33
  • 72.44 (n)
Str.10801 33
(Danio rerio)
Actinopterygii sh3bgrl2 33 34
  • 68.73 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1778 33
fruit fly
(Drosophila melanogaster)
Insecta Sh3beta 34
  • 8 (a)
(Caenorhabditis elegans)
Secernentea Y105E8A.1 34
  • 18 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
Species where no ortholog for SH3BGRL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • 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 SH3BGRL2 Gene

Gene Tree for SH3BGRL2 (if available)
Gene Tree for SH3BGRL2 (if available)

Paralogs for SH3BGRL2 Gene

Paralogs for SH3BGRL2 Gene

(4) SIMAP similar genes for SH3BGRL2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SH3BGRL2: view

Variants for SH3BGRL2 Gene

Sequence variations from dbSNP and Humsavar for SH3BGRL2 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1021714733 uncertain-significance, Leber congenital amaurosis 79,537,224(+) C/T upstream_transcript_variant
rs370115829 uncertain-significance, Leber congenital amaurosis 79,537,371(+) C/A/G/T upstream_transcript_variant
rs538864087 uncertain-significance, Leber congenital amaurosis 79,537,387(+) G/A upstream_transcript_variant
rs541304321 uncertain-significance, Leber congenital amaurosis 79,537,402(+) C/T upstream_transcript_variant
rs558234494 uncertain-significance, Leber congenital amaurosis 79,537,237(+) T/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SH3BGRL2 Gene

Variant ID Type Subtype PubMed ID
dgv1139e199 CNV deletion 23128226
esv3576196 CNV gain 25503493
esv3609694 CNV gain 21293372
esv3609695 CNV loss 21293372
esv3609696 CNV loss 21293372
esv3890891 CNV gain 25118596
nsv1027388 CNV gain 25217958
nsv5368 CNV insertion 18451855

Variation tolerance for SH3BGRL2 Gene

Residual Variation Intolerance Score: 52.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.65; 13.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SH3BGRL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SH3BGRL2 Gene

Disorders for SH3BGRL2 Gene

Additional Disease Information for SH3BGRL2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for SH3BGRL2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SH3BGRL2 Gene

Publications for SH3BGRL2 Gene

  1. The identification of a novel human homologue of the SH3 binding glutamic acid-rich (SH3BGR) gene establishes a new family of highly conserved small proteins related to Thioredoxin Superfamily. (PMID: 12095696) Mazzocco M … Scartezzini P (Gene 2002) 2 3 4 58
  2. Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study. (PMID: 20522523) Kasperaviciūte D … Sisodiya SM (Brain : a journal of neurology 2010) 3 44 58
  3. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58
  4. Genetic loci associated with circulating levels of very long-chain saturated fatty acids. (PMID: 25378659) Lemaitre RN … Friedlander Y (Journal of lipid research 2015) 3 58
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M … Moll S (Journal of proteomics 2013) 3 58

Products for SH3BGRL2 Gene

Sources for SH3BGRL2 Gene

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