Aliases for SH3BGR Gene
Aliases for SH3BGR Gene
- SH3 Domain Binding Glutamate Rich Protein 2 3 5
- SH3 Domain-Binding Glutamic Acid-Rich Protein 3 4
- 21-Glutamic Acid-Rich Protein 2 4
- 21-GARP 3 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
External Ids for SH3BGR Gene
- HGNC: 10822
- Entrez Gene: 6450
- Ensembl: ENSG00000185437
- OMIM: 602230
- UniProtKB: P55822
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 WRB-SH3BGR.
Additional gene information for SH3BGR Gene
No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SH3BGR Gene
Genomics for SH3BGR Gene
GeneHancer (GH) Regulatory Elements for SH3BGR Gene
Promoters and enhancers for SH3BGR Gene
- 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 UCSC Golden Path with GeneCards custom track
- 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:
-
- 21q22.2 by HGNC
- 21q22.2 by Entrez Gene
- 21q22.2 by Ensembl
SH3BGR Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- A6ND59
- D3DSI2
- Q9BRB8
Protein attributes for SH3BGR Gene
- Size:
- 239 amino acids
- Molecular mass:
- 26086 Da
- Quaternary structure:
- No Data Available
Protein Expression for SH3BGR Gene
Post-translational modifications for SH3BGR Gene
Other Protein References for SH3BGR Gene
Antibody Products
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-
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- Invitrogen Antibodies for SH3BGR (AFLGC-SH3BGR)
-
Boster Bio Antibodies for SH3BGR
-
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Protein Products
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-
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-
Abcam proteins for SH3BGR
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
- Blocks:
- InterPro:
- 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- Family:
-
- Belongs to the SH3BGR family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005070 | SH3/SH2 adaptor activity | TAS | 9050928 |
| GO:0017124 | SH3 domain binding | IEA | -- |
Phenotypes for SH3BGR Gene
Animal Model Products
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-
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- RR203285
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Cell Line Products
-
Horizon Cell Lines 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
| Compartment | Confidence |
|---|---|
| cytosol | 3 |
| plasma membrane | 2 |
| nucleus | 1 |
| mitochondrion | 0 |
- Cytosol (2)
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | HDA | 16780588 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for SH3BGR Gene
Pathways & Interactions for SH3BGR Gene
Interacting Proteins for SH3BGR Gene
GPS-Prot Interaction Network for SH3BGR
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0009967 | positive regulation of signal transduction | IEA | -- |
| GO:0065003 | protein-containing complex assembly | TAS | 9050928 |
No data available for Pathways by source and SIGNOR curated interactions for SH3BGR Gene
Drugs & Compounds for SH3BGR Gene
No Compound Related Data Available
Drug Products
- Atlas Antibodies PrEST Antigen SH3BGR
Transcripts for SH3BGR Gene
mRNA/cDNA for SH3BGR Gene
- (5) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (393) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000380637 1014 bps (ENST00000380637.7)
- ENST00000380634 816 bps (ENST00000380634.5)
- ENST00000458295 812 bps (ENST00000458295.5)
- ENST00000440288 585 bps (ENST00000440288.6)
- ENST00000380631 780 bps (ENST00000380631.5)
Unigene Clusters for SH3BGR Gene
CRISPR Products
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-
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Inhibitory RNA Products
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Clone Products
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-
- MG218317
- MR218317
- MR218317L1
- MR218317L1V
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- MR218317L2V
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- MR218317L3V
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- RR203285L1
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- RR203285L3
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- RR203285L4
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||
| SP2: | - | ||||||||||||||||
| SP3: |
Expression for SH3BGR Gene
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).
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
NURSA nuclear receptor signaling pathways regulating expression of SH3BGR Gene:
SH3BGRSOURCE GeneReport for Unigene cluster for SH3BGR Gene:
Hs.473847mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for SH3BGR
-
OriGene qPCR primer pairs and template standards for SH3BGR
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SH3BGR 35 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | SH3BGR 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Sh3bgr 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | SH3BGR 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | SH3BGR 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | -- 35 |
|
ManyToMany | |
| chicken (Gallus gallus) |
Aves | SH3BGR 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | SH3BGR 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | MGC75687 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.24537 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | sh3bgr 35 |
|
OneToOne | |
| Dr.13487 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Sh3beta 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | Y105E8A.1 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany |
- Species where no ortholog for SH3BGR was found in the sources mined by GeneCards:
-
- 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)
- 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 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
Variants for SH3BGR Gene
| SNP ID | Clin | Chr 21 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000053625 | -- | 39,461,689(+) | G/C | intron_variant | |
| rs1000111115 | -- | 39,507,678(+) | T/C | intron_variant | |
| rs1000134360 | -- | 39,445,607(+) | T/G | upstream_transcript_variant | |
| rs1000193512 | -- | 39,489,492(+) | A/G | intron_variant | |
| rs1000238207 | -- | 39,486,120(+) | A/G/T | intron_variant |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
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
No disorders were found for SH3BGR Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SH3BGR Gene
Publications for SH3BGR Gene
- 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 58
- 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 45 58
- 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 58
- The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4 58
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
ExternalLinks
Products for SH3BGR Gene
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Sources for SH3BGR Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) HGMD
- (45) GAD
- (46) BGMUT
- (47) HuGE
- (48) Atlas
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
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