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Aliases for SHB Gene

Aliases for SHB Gene

  • SH2 Domain Containing Adaptor Protein B 2 3 5
  • SHB (Src Homology 2 Domain Containing) Adaptor Protein B 2 3
  • Src Homology 2 Domain Containing Adaptor Protein B 2 3
  • SHB Adaptor Protein (A Src Homology 2 Protein) 2 3
  • SH2 Domain-Containing Adapter Protein B 3
  • BA3J10.2 3

External Ids for SHB Gene

Previous GeneCards Identifiers for SHB Gene

  • GC09M038231
  • GC09M038089
  • GC09M037909
  • GC09M037581
  • GC09M037925
  • GC09M037933
  • GC09M037953
  • GC09M037979
  • GC09M037972
  • GC09M038001
  • GC09M038021
  • GC09M038022
  • GC09M038035
  • GC09M038049
  • GC09M038063

Summaries for SHB Gene

GeneCards Summary for SHB Gene

SHB (SH2 Domain Containing Adaptor Protein B) is a Protein Coding gene. Diseases associated with SHB include Sulfhemoglobinemia. Among its related pathways are EPH-Ephrin signaling and Developmental Biology. Gene Ontology (GO) annotations related to this gene include SH3/SH2 adaptor activity. An important paralog of this gene is ENSG00000255872.

UniProtKB/Swiss-Prot for SHB Gene

  • Adapter protein which regulates several signal transduction cascades by linking activated receptors to downstream signaling components. May play a role in angiogenesis by regulating FGFR1, VEGFR2 and PDGFR signaling. May also play a role in T-cell antigen receptor/TCR signaling, interleukin-2 signaling, apoptosis and neuronal cells differentiation by mediating basic-FGF and NGF-induced signaling cascades. May also regulate IRS1 and IRS2 signaling in insulin-producing cells.

Gene Wiki entry for SHB Gene

Additional gene information for SHB Gene

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

Genomics for SHB Gene

GeneHancer (GH) Regulatory Elements for SHB Gene

Promoters and enhancers for SHB 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
GH09I038057 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 561 +5.2 5222 13.7 HDGF PKNOX1 CLOCK SMAD1 FOXA2 MLX ARNT ARID4B NEUROD1 SIN3A SHB SLC25A51 RNU7-124P TMX2P1 ENSG00000255872 GC09P038069 LOC105376039 GC09M038093
GH09I038070 Enhancer 0.6 ENCODE dbSUPER 550.8 -1.7 -1746 0.2 RCOR1 CHD2 SHB LOC105376039
GH09I037949 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 18.7 +116.7 116674 6.3 HDGF PKNOX1 FOXA2 MLX ARID4B NEUROD1 SIN3A IRF4 FOS ZNF263 SHB SLC25A51 ENSG00000255872 ALDH1B1 EXOSC3 RNU7-124P GC09M038093
GH09I038005 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 18.7 +61.4 61381 5.4 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ETS1 YY1 ZNF143 ATF7 SHB RNU7-124P ENSG00000255872 GC09M038093 GC09P038069
GH09I038014 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 19.6 +51.3 51281 6.5 ATF1 FOXA2 SIN3A FEZF1 ZNF48 RAD21 YY1 ZNF143 RCOR1 FOS SHB TMX2P1 ENSG00000255872 RNU7-124P SLC25A51 ALDH1B1 EXOSC3 GC09M038093 GC09P038069
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SHB on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for SHB Gene

Genomic Locations for SHB Gene
chr9:37,915,898-38,069,213
(GRCh38/hg38)
Size:
153,316 bases
Orientation:
Minus strand
chr9:37,915,895-38,069,210
(GRCh37/hg19)

Genomic View for SHB Gene

Genes around SHB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SHB Gene

Proteins for SHB Gene

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

    Protein Symbol:
    Q15464-SHB_HUMAN
    Recommended name:
    SH2 domain-containing adapter protein B
    Protein Accession:
    Q15464
    Secondary Accessions:
    • B9EGM0
    • D3DRQ5
    • Q504U5
    • Q5VUM8

    Protein attributes for SHB Gene

    Size:
    509 amino acids
    Molecular mass:
    55042 Da
    Quaternary structure:
    • Interacts with PTPN11 (By similarity). Interacts with phosphorylated Tyr-720 of the ligand-activated receptor PDGFRA via its SH2 domain. Interacts with the ligand-activated receptors PDGFRB, FGFR1, KDR/VEGFR2, IL2RB and IL2RG. Interacts with EPS8 and V-SRC. Interacts with GRB2 and GRAP. Interacts with CD3Z. Interacts with tyrosine-phosphorylated LAT upon T-cell antigen receptor activation. Interacts with PLCG1. Interacts with ZAP70, LCP2/SLP-76, VAV1 and GRAP2. Interacts with JAK1 and JAK3. Interacts with PTK2/FAK1. Interacts with CRK/CrKII. Interacts with IRS2.
    SequenceCaution:
    • Sequence=AAH94765.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA53091.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SHB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SHB Gene

Post-translational modifications for SHB Gene

  • Phosphorylated upon PDGFRA, PDGFRB, TCR, IL2 receptor, FGFR1 or VEGFR2 activation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SHB Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for SHB
  • Santa Cruz Biotechnology (SCBT) Antibodies for SHB

No data available for DME Specific Peptides for SHB Gene

Domains & Families for SHB Gene

Gene Families for SHB Gene

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

Protein Domains for SHB Gene

Suggested Antigen Peptide Sequences for SHB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15464

UniProtKB/Swiss-Prot:

SHB_HUMAN :
  • The SH2 domain preferentially binds phosphopeptides with the consensus sequence Y-[TVI]-X-L and mediates interaction with PDGFRA, PDGFRB, FGRFR1, IL2RB, IL2RG, CD3Z and CRK/CrKII.
Domain:
  • The SH2 domain preferentially binds phosphopeptides with the consensus sequence Y-[TVI]-X-L and mediates interaction with PDGFRA, PDGFRB, FGRFR1, IL2RB, IL2RG, CD3Z and CRK/CrKII.
genes like me logo Genes that share domains with SHB: view

Function for SHB Gene

Molecular function for SHB Gene

GENATLAS Biochemistry:
adaptor protein,ubiquitously expressed with SH2 domain (?signal transduction)
UniProtKB/Swiss-Prot Function:
Adapter protein which regulates several signal transduction cascades by linking activated receptors to downstream signaling components. May play a role in angiogenesis by regulating FGFR1, VEGFR2 and PDGFR signaling. May also play a role in T-cell antigen receptor/TCR signaling, interleukin-2 signaling, apoptosis and neuronal cells differentiation by mediating basic-FGF and NGF-induced signaling cascades. May also regulate IRS1 and IRS2 signaling in insulin-producing cells.

Phenotypes From GWAS Catalog for SHB Gene

Gene Ontology (GO) - Molecular Function for SHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001784 phosphotyrosine residue binding IPI 20624904
GO:0005070 SH3/SH2 adaptor activity TAS,IEA --
GO:0005515 protein binding IPI 17112510
genes like me logo Genes that share ontologies with SHB: view
genes like me logo Genes that share phenotypes with SHB: view

Animal Models for SHB Gene

MGI Knock Outs for SHB:
  • Shb tm1.1Miwe

Clone Products

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

Localization for SHB Gene

Subcellular locations from UniProtKB/Swiss-Prot for SHB Gene

Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=Associates with membrane lipid rafts upon TCR stimulation.

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 SHB gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
  • Cytoplasmic bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SHB: view

Pathways & Interactions for SHB Gene

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

Gene Ontology (GO) - Biological Process for SHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0006915 apoptotic process IEA --
GO:0007165 signal transduction TAS 8302579
GO:0007275 multicellular organism development IEA --
GO:0009967 positive regulation of signal transduction IEA --
genes like me logo Genes that share ontologies with SHB: view

No data available for SIGNOR curated interactions for SHB Gene

Drugs & Compounds for SHB Gene

(3) Drugs for SHB Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for SHB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SHB: view

Transcripts for SHB Gene

mRNA/cDNA for SHB Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(20) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SHB Gene

Src homology 2 domain containing adaptor protein B:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for SHB Gene

GeneLoc Exon Structure for
SHB
ECgene alternative splicing isoforms for
SHB

Expression for SHB Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SHB Gene

This gene is overexpressed in Esophagus (39.5) and Pancreatic juice (25.8).

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



Protein tissue co-expression partners for SHB Gene

NURSA nuclear receptor signaling pathways regulating expression of SHB Gene:

SHB

SOURCE GeneReport for Unigene cluster for SHB Gene:

Hs.521482

mRNA Expression by UniProt/SwissProt for SHB Gene:

Q15464-SHB_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for SHB Gene

  • Liver(4.3)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with SHB: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SHB Gene

Orthologs for SHB Gene

This gene was present in the common ancestor of animals.

Orthologs for SHB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SHB 33 34
  • 99.02 (n)
dog
(Canis familiaris)
Mammalia SHB 33 34
  • 92.45 (n)
oppossum
(Monodelphis domestica)
Mammalia SHB 34
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SHB 33 34
  • 91.91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SHB 34
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Shb 33
  • 85.96 (n)
mouse
(Mus musculus)
Mammalia Shb 33 16 34
  • 85.5 (n)
chicken
(Gallus gallus)
Aves SHB 33 34
  • 73.61 (n)
lizard
(Anolis carolinensis)
Reptilia SHB 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489262 33
  • 67.99 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG43921 34
  • 8 (a)
OneToMany
Species where no ortholog for SHB 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SHB Gene

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

Paralogs for SHB Gene

Paralogs for SHB Gene

(2) SIMAP similar genes for SHB Gene using alignment to 1 proteins:

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

Variants for SHB Gene

Sequence variations from dbSNP and Humsavar for SHB Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000002368 -- 38,046,259(-) C/T intron_variant
rs1000013707 -- 37,920,769(-) G/C intron_variant
rs1000018321 -- 38,034,420(-) G/A intron_variant
rs1000030414 -- 37,997,047(-) T/C intron_variant
rs1000045699 -- 38,022,228(-) A/G intron_variant

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

Variant ID Type Subtype PubMed ID
dgv12674n54 CNV gain 21841781
dgv12675n54 CNV gain 21841781
dgv12676n54 CNV gain 21841781
dgv12677n54 CNV gain 21841781
dgv12678n54 CNV gain 21841781
dgv12679n54 CNV gain 21841781
dgv12680n54 CNV gain 21841781
dgv12681n54 CNV loss 21841781
dgv12682n54 CNV loss 21841781
dgv12683n54 CNV loss 21841781
dgv12684n54 CNV loss 21841781
dgv12685n54 CNV gain 21841781
dgv2150e212 CNV loss 25503493
dgv485n21 CNV loss 19592680
esv22578 CNV loss 19812545
esv2664571 CNV deletion 23128226
esv2738434 CNV deletion 23290073
esv2738435 CNV deletion 23290073
esv3573232 CNV loss 25503493
esv3573234 CNV loss 25503493
esv3620415 CNV loss 21293372
nsv1018488 CNV gain 25217958
nsv1115176 CNV deletion 24896259
nsv1115177 CNV deletion 24896259
nsv1125318 OTHER inversion 24896259
nsv428210 CNV loss 18775914
nsv469814 CNV gain 16826518
nsv614218 CNV loss 21841781
nsv614221 CNV gain 21841781
nsv614223 CNV gain 21841781
nsv614248 CNV gain+loss 21841781
nsv614262 CNV gain 21841781
nsv614269 CNV loss 21841781

Variation tolerance for SHB Gene

Gene Damage Index Score: 3.28; 53.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SHB Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for SHB Gene

MalaCards: The human disease database

(1) MalaCards diseases for SHB Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
sulfhemoglobinemia
  • sulfemoglobinemia
- elite association - COSMIC cancer census association via MalaCards
Search SHB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SHB

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

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

Publications for SHB Gene

  1. The adaptor protein shb binds to tyrosine 1175 in vascular endothelial growth factor (VEGF) receptor-2 and regulates VEGF-dependent cellular migration. (PMID: 15026417) Holmqvist K … Welsh M (The Journal of biological chemistry 2004) 3 4 22 58
  2. The Shb adaptor protein binds to tyrosine 766 in the FGFR-1 and regulates the Ras/MEK/MAPK pathway via FRS2 phosphorylation in endothelial cells. (PMID: 12181353) Cross MJ … Claesson-Welsh L (Molecular biology of the cell 2002) 3 4 22 58
  3. IL-2 receptor signaling through the Shb adapter protein in T and NK cells. (PMID: 12200137) Lindholm CK (Biochemical and biophysical research communications 2002) 3 4 22 58
  4. NGF-Dependent neurite outgrowth in PC12 cells overexpressing the Src homology 2-domain protein shb requires activation of the Rap1 pathway. (PMID: 10964504) Lu L … Welsh M (Experimental cell research 2000) 3 4 22 58
  5. Requirement of the Src homology 2 domain protein Shb for T cell receptor-dependent activation of the interleukin-2 gene nuclear factor for activation of T cells element in Jurkat T cells. (PMID: 10488157) Lindholm CK … Welsh M (The Journal of biological chemistry 1999) 3 4 22 58

Products for SHB Gene

Sources for SHB Gene

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