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Aliases for HSH2D Gene

Aliases for HSH2D Gene

  • Hematopoietic SH2 Domain Containing 2 3 5
  • Adaptor In Lymphocytes Of Unknown Function X 3 4
  • ALX 3 4
  • Hematopoietic SH2 Domain-Containing Protein 3
  • Hematopoietic SH2 Protein 4
  • HSH2 3

External Ids for HSH2D Gene

Previous GeneCards Identifiers for HSH2D Gene

  • GC19P016106
  • GC19P016107
  • GC19P015938
  • GC19P016244
  • GC19P015815
  • GC19P016499
  • GC19P016799
  • GC19P017577
  • GC19P018243

Summaries for HSH2D Gene

Entrez Gene Summary for HSH2D Gene

  • T-cell activation requires 2 signals: recognition of antigen by the T-cell receptor (see TCR; MIM 186880) and a costimulatory signal provided primarily by CD28 (MIM 186760) in naive T cells. HSH2 is a target of both of these signaling pathways (Greene et al., 2003 [PubMed 12960172]).[supplied by OMIM, Mar 2008]

GeneCards Summary for HSH2D Gene

HSH2D (Hematopoietic SH2 Domain Containing) is a Protein Coding gene. GO annotations related to this gene include SH3/SH2 adaptor activity. An important paralog of this gene is SH2D7.

UniProtKB/Swiss-Prot for HSH2D Gene

  • May be a modulator of the apoptotic response through its ability to affect mitochondrial stability (By similarity). Adapter protein involved in tyrosine kinase and CD28 signaling. Seems to affect CD28-mediated activation of the RE/AP element of the interleukin-2 promoter.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSH2D Gene

Genomics for HSH2D Gene

Regulatory Elements for HSH2D Gene

Enhancers for HSH2D Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F016091 1 FANTOM5 ENCODE 18.2 -38.8 -38770 7.6 ARID4B DMAP1 ZNF48 PAF1 ZNF263 SP5 KAT8 MBD2 SMARCA4 GLIS1 HSH2D CIB3 FAM32A C19orf44 EPS15L1 RAB8A ENSG00000267373 ENSG00000279198
GH19F015639 1.7 FANTOM5 Ensembl ENCODE 15.4 -492.8 -492787 3.5 ARID4B SIN3A ZNF48 YY1 GATA2 MIER2 REST SSRP1 GLIS1 MYNN CYP4F12 HSH2D CYP4F10P CYP4F3 OR10H5 RAB8A LINC01835 BRD4 AKAP8 GC19M015646
GH19F016084 0.8 ENCODE 11.7 -46.5 -46524 6.7 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF766 ZNF143 HSH2D RASAL3 ENSG00000279198 ENSG00000267373
GH19F016442 1.4 FANTOM5 Ensembl ENCODE 5.5 +312.8 312773 9.2 HDGF PKNOX1 MLX WRNIP1 SIN3A ARID4B FEZF1 YY1 SLC30A9 ZNF143 EPS15L1 C19orf44 ENSG00000141979 RAB8A MED26 HSH2D SMIM7 GTPBP3 KLF2 ENSG00000267703
GH19F016461 1.4 FANTOM5 Ensembl ENCODE 3.7 +329.5 329545 4.3 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 C19orf44 PLVAP ENSG00000141979 MVB12A SMIM7 EPS15L1 HSH2D ENSG00000267703
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around HSH2D on UCSC Golden Path with GeneCards custom track

Genomic Location for HSH2D Gene

Chromosome:
19
Start:
16,134,028 bp from pter
End:
16,158,575 bp from pter
Size:
24,548 bases
Orientation:
Plus strand

Genomic View for HSH2D Gene

Genes around HSH2D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSH2D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSH2D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSH2D Gene

Proteins for HSH2D Gene

  • Protein details for HSH2D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96JZ2-HSH2D_HUMAN
    Recommended name:
    Hematopoietic SH2 domain-containing protein
    Protein Accession:
    Q96JZ2
    Secondary Accessions:
    • B5ME72
    • Q6ZNG7

    Protein attributes for HSH2D Gene

    Size:
    352 amino acids
    Molecular mass:
    39002 Da
    Quaternary structure:
    • Interacts with FES and TNK2.

    Three dimensional structures from OCA and Proteopedia for HSH2D Gene

    Alternative splice isoforms for HSH2D Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HSH2D Gene

Post-translational modifications for HSH2D Gene

No data available for DME Specific Peptides for HSH2D Gene

Domains & Families for HSH2D Gene

Gene Families for HSH2D Gene

Protein Domains for HSH2D Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for HSH2D Gene

Graphical View of Domain Structure for InterPro Entry

Q96JZ2

UniProtKB/Swiss-Prot:

HSH2D_HUMAN :
  • Contains 1 SH2 domain.
Domain:
  • Contains 1 SH2 domain.
genes like me logo Genes that share domains with HSH2D: view

Function for HSH2D Gene

Molecular function for HSH2D Gene

UniProtKB/Swiss-Prot Function:
May be a modulator of the apoptotic response through its ability to affect mitochondrial stability (By similarity). Adapter protein involved in tyrosine kinase and CD28 signaling. Seems to affect CD28-mediated activation of the RE/AP element of the interleukin-2 promoter.

Gene Ontology (GO) - Molecular Function for HSH2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005070 SH3/SH2 adaptor activity IEA --
GO:0005515 protein binding IPI 24728074
genes like me logo Genes that share ontologies with HSH2D: view
genes like me logo Genes that share phenotypes with HSH2D: view

Animal Models for HSH2D Gene

MGI Knock Outs for HSH2D:

Animal Model Products

miRNA for HSH2D Gene

miRTarBase miRNAs that target HSH2D

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HSH2D

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HSH2D Gene

Localization for HSH2D Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSH2D Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HSH2D Gene COMPARTMENTS Subcellular localization image for HSH2D gene
Compartment Confidence
cytosol 5
nucleus 5
mitochondrion 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for HSH2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with HSH2D: view

Pathways & Interactions for HSH2D Gene

SuperPathways for HSH2D Gene

No Data Available

Interacting Proteins for HSH2D Gene

Gene Ontology (GO) - Biological Process for HSH2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002903 negative regulation of B cell apoptotic process IEA --
GO:0009967 positive regulation of signal transduction IEA --
GO:0042110 T cell activation IEA --
GO:0051902 negative regulation of mitochondrial depolarization IEA --
genes like me logo Genes that share ontologies with HSH2D: view

No data available for Pathways by source and SIGNOR curated interactions for HSH2D Gene

Transcripts for HSH2D Gene

Unigene Clusters for HSH2D Gene

Hematopoietic SH2 domain containing:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HSH2D

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HSH2D Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b
SP1:
SP2: - - - -
SP3: - - -
SP4: - - - -
SP5: -
SP6: - -

Relevant External Links for HSH2D Gene

GeneLoc Exon Structure for
HSH2D
ECgene alternative splicing isoforms for
HSH2D

Expression for HSH2D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HSH2D Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HSH2D Gene

This gene is overexpressed in Whole Blood (x17.8) and Spleen (x6.4).

Protein differential expression in normal tissues from HIPED for HSH2D Gene

This gene is overexpressed in NK cells (30.2), Blymphocyte (30.1), and CD8 Tcells (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HSH2D Gene



Protein tissue co-expression partners for HSH2D Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HSH2D Gene:

HSH2D

SOURCE GeneReport for Unigene cluster for HSH2D Gene:

Hs.631617

mRNA Expression by UniProt/SwissProt for HSH2D Gene:

Q96JZ2-HSH2D_HUMAN
Tissue specificity: Predominantly expressed in spleen and hematopoietic cells such as peripheral blood leukocytes and weakly expressed in prostate, thymus, heart, small intestine and placenta.
genes like me logo Genes that share expression patterns with HSH2D: view

Primer Products

Orthologs for HSH2D Gene

This gene was present in the common ancestor of mammals.

Orthologs for HSH2D Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HSH2D 34
  • 99.53 (n)
dog
(Canis familiaris)
Mammalia HSH2D 34
  • 74.37 (n)
cow
(Bos Taurus)
Mammalia HSH2D 34
  • 74.09 (n)
mouse
(Mus musculus)
Mammalia Hsh2d 34 16
  • 69.87 (n)
rat
(Rattus norvegicus)
Mammalia Hsh2d 34
  • 66.77 (n)
Species where no ortholog for HSH2D 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for HSH2D Gene

ENSEMBL:
Gene Tree for HSH2D (if available)
TreeFam:
Gene Tree for HSH2D (if available)

Paralogs for HSH2D Gene

Paralogs for HSH2D Gene

genes like me logo Genes that share paralogs with HSH2D: view

Variants for HSH2D Gene

Sequence variations from dbSNP and Humsavar for HSH2D Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs10404979 -- 16,143,184(+) ggttc(A/G)agcaa intron-variant, upstream-variant-2KB
rs10406557 -- 16,140,104(+) TAAGA(A/G)CCCCG intron-variant
rs10406900 -- 16,139,004(+) aggca(A/T)gagcc intron-variant
rs10409473 -- 16,134,722(+) CTGGA(C/T)CTCTG intron-variant
rs10411088 -- 16,137,386(+) acttt(C/G)ggagg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HSH2D Gene

Variant ID Type Subtype PubMed ID
esv2672837 CNV deletion 23128226
esv2718260 CNV deletion 23290073
esv2718261 CNV deletion 23290073
esv3643789 CNV loss 21293372
esv3643790 CNV gain 21293372
esv3643791 CNV loss 21293372
nsv1071917 CNV deletion 25765185
nsv1130729 CNV deletion 24896259
nsv1134759 CNV deletion 24896259
nsv833767 CNV loss 17160897

Variation tolerance for HSH2D Gene

Gene Damage Index Score: 1.16; 23.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HSH2D Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSH2D

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSH2D Gene

Disorders for HSH2D Gene

Relevant External Links for HSH2D

Genetic Association Database (GAD)
HSH2D
Human Genome Epidemiology (HuGE) Navigator
HSH2D
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HSH2D

No disorders were found for HSH2D Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HSH2D Gene

Publications for HSH2D Gene

  1. HSH2: a novel SH2 domain-containing adapter protein involved in tyrosine kinase signaling in hematopoietic cells. (PMID: 11700021) Oda T. … Yamashita T. (Biochem. Biophys. Res. Commun. 2001) 2 3 4 22 64
  2. The ALX Src homology 2 domain is both necessary and sufficient to inhibit T cell receptor/CD28-mediated up-regulation of RE/AP. (PMID: 15284240) Shapiro M.J. … Shapiro V.S. (J. Biol. Chem. 2004) 3 4 22 64
  3. Cloning and characterization of ALX, an adaptor downstream of CD28. (PMID: 12960172) Greene T.A. … Shapiro V.S. (J. Biol. Chem. 2003) 3 4 22 64
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  5. The carboxyl-terminal segment of the adaptor protein ALX directs its nuclear export during T cell activation. (PMID: 16169852) Shapiro M.J. … Shapiro V.S. (J. Biol. Chem. 2005) 3 4 64

Products for HSH2D Gene

Sources for HSH2D Gene

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