Aliases for SH3BGR Gene

Aliases for SH3BGR Gene

  • SH3 Domain Binding Glutamate Rich Protein 2 3 5
  • 21-GARP 2 3 4
  • SH3 Domain-Binding Glutamic Acid-Rich Protein 3 4
  • 21-Glutamic Acid-Rich Protein 2 4
  • SH3-Binding Domain And Glutamic Acid-Rich Protein 3
  • SH3 Domain Binding Glutamic Acid-Rich Protein 2
  • SH3 Domain Binding Glutamate-Rich Protein 2
  • SH3BGR Protein 4
  • SH3BGR 5

External Ids for SH3BGR Gene

Previous GeneCards Identifiers for SH3BGR Gene

  • GC21P037398
  • GC21P039738
  • GC21P039744
  • GC21P039745
  • GC21P040817
  • GC21P026286

Summaries for SH3BGR Gene

GeneCards Summary for SH3BGR Gene

SH3BGR (SH3 Domain Binding Glutamate Rich Protein) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include SH3 domain binding and SH3/SH2 adaptor activity. An important paralog of this gene is GET1-SH3BGR.

Gene Wiki entry for SH3BGR Gene

Additional gene information for SH3BGR Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SH3BGR Gene

Genomics for SH3BGR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SH3BGR 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
GH21J039444 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 628.3 -0.3 -277 2.4 CREB1 PRDM10 ZNF629 ZNF512 RFX1 IKZF1 KDM1A ZNF692 POLR2A JUND LCA5L SH3BGR MIR6508 lnc-LCA5L-3 HMGN1 GET1 NONHSAG032872.2 GET1-SH3BGR
GH21J039379 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 600.2 -65.2 -65154 2.2 BRCA1 CREB1 PRDM10 ZNF629 RFX1 ZNF692 POLR2A JUND ZNF143 ZIC2 GET1-SH3BGR HSALNG0133134 SH3BGR GET1 HMGN1 BRWD1 piR-57460-427 LCA5L
GH21J039450 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 628.7 +6.5 6475 3.9 CREB1 ATF7 PRDM10 ZNF629 LEF1 IKZF1 ZNF692 ZNF174 JUND FOXA1 SH3BGR LCA5L HMGN1 GET1 BRWD1 PCP4 MIR6508 MYL6P2 GET1-SH3BGR B3GALT5
GH21J039390 Promoter 0.4 EPDnew 600.2 -55.2 -55160 0.1 CTCF SH3BGR HMGN1 BRWD1 GET1 GET1-SH3BGR HSALNG0133134 piR-57460-427 LCA5L
GH21J039441 Enhancer 1.1 FANTOM5 Ensembl ENCODE 27.6 -3.7 -3733 1.9 CTCF IKZF1 JUND REST RAD21 TRIM22 SOX6 FOXJ2 ZNF561 HMBOX1 LCA5L SH3BGR lnc-LCA5L-3 NONHSAG032872.2 GET1-SH3BGR
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SH3BGR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SH3BGR

Top Transcription factor binding sites by QIAGEN in the SH3BGR gene promoter:
  • c-Rel
  • CREB
  • deltaCREB
  • NF-kappaB
  • RFX1

Genomic Locations for SH3BGR Gene

Genomic Locations for SH3BGR Gene
chr21:39,445,855-39,515,506
(GRCh38/hg38)
Size:
69,652 bases
Orientation:
Plus strand
chr21:40,817,781-40,887,433
(GRCh37/hg19)
Size:
69,653 bases
Orientation:
Plus strand

Genomic View for SH3BGR Gene

Genes around SH3BGR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SH3BGR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SH3BGR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SH3BGR Gene

Proteins for SH3BGR Gene

  • Protein details for SH3BGR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55822-SH3BG_HUMAN
    Recommended name:
    SH3 domain-binding glutamic acid-rich protein
    Protein Accession:
    P55822
    Secondary Accessions:
    • A6ND59
    • D3DSI2
    • Q9BRB8

    Protein attributes for SH3BGR Gene

    Size:
    239 amino acids
    Molecular mass:
    26086 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SH3BGR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SH3BGR Gene

Post-translational modifications for SH3BGR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SH3BGR Gene

Domains & Families for SH3BGR Gene

Gene Families for SH3BGR Gene

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

Protein Domains for SH3BGR Gene

InterPro:
Blocks:
  • SH3-binding, glutamic acid-rich protein
ProtoNet:

Suggested Antigen Peptide Sequences for SH3BGR Gene

GenScript: Design optimal peptide antigens:
  • 21-glutamic acid-rich protein (SH3BG_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P55822

UniProtKB/Swiss-Prot:

SH3BG_HUMAN :
  • Belongs to the SH3BGR family.
Family:
  • Belongs to the SH3BGR family.
genes like me logo Genes that share domains with SH3BGR: view

Function for SH3BGR Gene

Molecular function for SH3BGR Gene

GENATLAS Biochemistry:
SH3 domain binding,glutamic acid rich protein,expressed only in heart and skeletal muscle

Phenotypes From GWAS Catalog for SH3BGR Gene

Gene Ontology (GO) - Molecular Function for SH3BGR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005070 SH3/SH2 adaptor activity TAS --
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with SH3BGR: view
genes like me logo Genes that share phenotypes with SH3BGR: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SH3BGR

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SH3BGR Gene

Localization for SH3BGR Gene

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 SH3BGR gene
Compartment Confidence
cytosol 5
plasma membrane 2
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SH3BGR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol HDA 16780588
genes like me logo Genes that share ontologies with SH3BGR: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for SH3BGR Gene

Pathways & Interactions for SH3BGR Gene

PathCards logo

SuperPathways for SH3BGR Gene

No Data Available

Gene Ontology (GO) - Biological Process for SH3BGR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009967 positive regulation of signal transduction IEA --
GO:0065003 protein-containing complex assembly TAS 9050928
genes like me logo Genes that share ontologies with SH3BGR: view

No data available for Pathways by source and SIGNOR curated interactions for SH3BGR Gene

Drugs & Compounds for SH3BGR Gene

No Compound Related Data Available

Transcripts for SH3BGR Gene

mRNA/cDNA for SH3BGR Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SH3BGR

Alternative Splicing Database (ASD) splice patterns (SP) for SH3BGR Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7
SP1:
SP2: -
SP3:

Relevant External Links for SH3BGR Gene

GeneLoc Exon Structure for
SH3BGR

Expression for SH3BGR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SH3BGR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SH3BGR Gene

This gene is overexpressed in Muscle - Skeletal (x15.9) and Heart - Left Ventricle (x5.4).

Protein differential expression in normal tissues from HIPED for SH3BGR Gene

This gene is overexpressed in Tonsil (21.5), Heart (18.8), and Oral epithelium (15.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SH3BGR Gene



Protein tissue co-expression partners for SH3BGR Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SH3BGR

SOURCE GeneReport for Unigene cluster for SH3BGR Gene:

Hs.473847

mRNA Expression by UniProt/SwissProt for SH3BGR Gene:

P55822-SH3BG_HUMAN
Tissue specificity: Expressed in heart and skeletal muscle.

Evidence on tissue expression from TISSUES for SH3BGR Gene

  • Heart(4.6)
  • Muscle(4.6)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with SH3BGR: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SH3BGR Gene

Orthologs for SH3BGR Gene

This gene was present in the common ancestor of animals.

Orthologs for SH3BGR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SH3BGR 30 31
  • 99.16 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SH3BGR 31
  • 72 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Sh3bgr 31
  • 68 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SH3BGR 31
  • 65 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SH3BGR 31
  • 65 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 31
  • 39 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves SH3BGR 31
  • 88 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SH3BGR 31
  • 50 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24537 30
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia MGC75687 30
Zebrafish
(Danio rerio)
Actinopterygii sh3bgr 31
  • 50 (a)
OneToOne
Dr.13487 30
Fruit Fly
(Drosophila melanogaster)
Insecta Sh3beta 31
  • 14 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea Y105E8A.1 31
  • 25 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 38 (a)
OneToMany
Species where no ortholog for SH3BGR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • 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 SH3BGR Gene

ENSEMBL:
Gene Tree for SH3BGR (if available)
TreeFam:
Gene Tree for SH3BGR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SH3BGR: view image

Paralogs for SH3BGR Gene

Paralogs for SH3BGR Gene

(3) SIMAP similar genes for SH3BGR Gene using alignment to 6 proteins:

  • SH3BG_HUMAN
  • C9JJT2_HUMAN
  • C9JX40_HUMAN
  • H7C1Y8_HUMAN
  • H7C2G0_HUMAN
  • H7C3V3_HUMAN
genes like me logo Genes that share paralogs with SH3BGR: view

Variants for SH3BGR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SH3BGR Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
rs11575939 - p.Asp23Glu
rs6517549 - p.Asp50Asn
rs9974333 - p.Val188Ala

Additional dbSNP identifiers (rs#s) for SH3BGR Gene

Structural Variations from Database of Genomic Variants (DGV) for SH3BGR Gene

Variant ID Type Subtype PubMed ID
esv2723434 CNV deletion 23290073
esv2758820 CNV gain 17122850
esv34779 CNV gain 17911159
esv3557717 CNV deletion 23714750
nsv1061454 CNV gain 25217958
nsv1067330 CNV loss 25217958
nsv1126006 CNV deletion 24896259
nsv964496 CNV duplication 23825009

Variation tolerance for SH3BGR Gene

Residual Variation Intolerance Score: 87.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.82; 67.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SH3BGR Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SH3BGR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SH3BGR Gene

Disorders for SH3BGR Gene

Additional Disease Information for SH3BGR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for SH3BGR Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SH3BGR Gene

Publications for SH3BGR Gene

  1. Cloning a new human gene from chromosome 21q22.3 encoding a glutamic acid-rich protein expressed in heart and skeletal muscle. (PMID: 9050928) Scartezzini P … Rasore-Quartino A (Human genetics 1997) 2 3 4 23
  2. Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes. (PMID: 20532202) Naukkarinen J … ENGAGE Consortium (PLoS genetics 2010) 3 41
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4
  5. High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2. (PMID: 29955039) Cappella M … Martelli F (Cell death & disease 2018) 3

Products for SH3BGR Gene

Sources for SH3BGR Gene