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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
  • GC19P018637
  • GC19P018953
  • GC19P019277

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. Gene Ontology (GO) annotations related to this gene include SH3/SH2 adaptor activity. An important paralog of this gene is SH2D2A.

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.

Additional gene information for HSH2D Gene

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

Genomics for HSH2D Gene

GeneHancer (GH) Regulatory Elements for HSH2D Gene

Promoters and enhancers for HSH2D 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
GH19I016139 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.4 +9.6 9632 9 HDGF PKNOX1 CLOCK FOXA2 SMAD1 ARNT NEUROD1 IRF4 ZNF121 ZNF207 HSH2D RAB8A EPS15L1 ENSG00000269243 CIB3
GH19I016134 Promoter/Enhancer 0.8 EPDnew dbSUPER 550.8 +0.0 4 0.1 POLR2A HSH2D RAB8A ENSG00000269243
GH19I016135 Enhancer 0.5 Ensembl 550.8 +1.9 1873 0.2 POLR2A ZMYM3 ZNF24 ZNF623 HSH2D RAB8A ENSG00000269243
GH19I015639 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE 15.4 -492.9 -492886 3.3 FOXA2 ARID4B SIN3A ZNF48 YY1 RXRA MIER2 REST NFIL3 SSRP1 CYP4F3 CYP4F12 HSH2D CYP4F10P OR10H5 RAB8A LINC01835 BRD4 AKAP8 GC19M015646
GH19I016091 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 18.2 -38.8 -38770 7.6 FOXA2 ARID4B DMAP1 ZNF48 ETS1 POLR2B ATF7 PAF1 RXRA SP5 HSH2D CIB3 FAM32A EPS15L1 RAB8A ENSG00000267373 ENSG00000279198 TPM4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HSH2D on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HSH2D gene promoter:

Genomic Locations for HSH2D Gene

Genomic Locations for HSH2D Gene
chr19:16,134,028-16,158,575
(GRCh38/hg38)
Size:
24,548 bases
Orientation:
Plus strand
chr19:16,244,838-16,269,386
(GRCh37/hg19)

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

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

Protein Domains for HSH2D Gene

Suggested Antigen Peptide Sequences for HSH2D Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for HSH2D Gene

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.

Phenotypes From GWAS Catalog for HSH2D Gene

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

CRISPR Products

miRNA for HSH2D Gene

miRTarBase miRNAs that target HSH2D

Inhibitory RNA 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
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 HSH2D gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
mitochondrion 2

Subcellular locations from the

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

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:0007165 signal transduction 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

Drugs & Compounds for HSH2D Gene

No Compound Related Data Available

Transcripts for HSH2D Gene

Unigene Clusters for HSH2D Gene

Hematopoietic SH2 domain containing:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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 CGAP 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.

Evidence on tissue expression from TISSUES for HSH2D Gene

  • Spleen(4.3)
genes like me logo Genes that share expression patterns with HSH2D: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for HSH2D Gene

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 33
  • 99.53 (n)
dog
(Canis familiaris)
Mammalia HSH2D 33
  • 74.37 (n)
cow
(Bos Taurus)
Mammalia HSH2D 33
  • 74.09 (n)
mouse
(Mus musculus)
Mammalia Hsh2d 33 16
  • 69.87 (n)
rat
(Rattus norvegicus)
Mammalia Hsh2d 33
  • 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 Variation AA Info Type
rs1000042614 -- 16,136,411(+) C/A genic_upstream_transcript_variant, intron_variant
rs1000476877 -- 16,135,448(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000521792 -- 16,146,470(+) G/A intron_variant
rs1000581144 -- 16,142,606(+) G/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000674344 -- 16,158,154(+) C/A 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_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)

Additional Variant Information for HSH2D Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for HSH2D Gene

Additional Disease Information for HSH2D

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

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 (Biochemical and biophysical research communications 2001) 2 3 4 22 58
  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 MJ … Shapiro VS (The Journal of biological chemistry 2004) 3 4 22 58
  3. Cloning and characterization of ALX, an adaptor downstream of CD28. (PMID: 12960172) Greene TA … Shapiro VS (The Journal of biological chemistry 2003) 3 4 22 58
  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 SD … DREAM investigators (Diabetes care 2010) 3 44 58
  5. The carboxyl-terminal segment of the adaptor protein ALX directs its nuclear export during T cell activation. (PMID: 16169852) Shapiro MJ … Shapiro VS (The Journal of biological chemistry 2005) 3 4 58

Products for HSH2D Gene

  • Addgene plasmids for HSH2D

Sources for HSH2D Gene

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