HSH2D - hematopoietic SH2 domain containing Gene

Also Known as ALX; HSH2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 84941

About HSH2D

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:16,134,028-16,158,575 (from NCBI)

This gene has 8 transcripts (splice variants), 186 orthologues and 4 paralogues. Biased expression in bone marrow (RPKM 13.9), spleen (RPKM 9.5) and 11 other tissues.

Summary

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]

HSH2D Products (6)

mRNA Protein Name
NM_001352265.2 NP_001339194.1 hematopoietic SH2 domain-containing protein isoform 3
NM_001352266.2 NP_001339195.1 hematopoietic SH2 domain-containing protein isoform 4
NM_001369808.1 NP_001356737.1 hematopoietic SH2 domain-containing protein isoform 5
NM_001369809.1 NP_001356738.1 hematopoietic SH2 domain-containing protein isoform 6
NM_001382417.1 NP_001369346.1 hematopoietic SH2 domain-containing protein isoform 1
NM_032855.4 NP_116244.1 hematopoietic SH2 domain-containing protein isoform 1

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
24728074 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HSH2D Protein Structure

SH2

SH2: SH2 domain (34 - 109)

  • 0
  • 100
  • 200
  • 300
  • 352 a.a.
Protein Preferred Names Protein Names

hematopoietic SH2 domain-containing protein

  • adaptor in lymphocytes of unknown function X

HSH2D Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
HSH2D Q96JZ2 KIT Homo sapiens P10721
FPS
24728074
Intra
HSH2D Q96JZ2 TSG101 Homo sapiens Q99816
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Frontonasal Dysplasia 1

  • Frontorhiny

  • Frontonasal Dysplasia

  • Fnd

  • Frontonasal Malformation

  • Fnm

  • Median Facial Cleft Syndrome

  • Midline Facial Cleft

  • FND1

  • Median Cleft Face Syndrome

  • Median Cleft Syndrome

  • Frontonasal Dysplasia Sequence

  • Median Facial Cleft

  • Tessier Number 0-14 And 30 Facial Cleft

  • Alx3-Related Frontonasal Dysplasia

  • Frontonasal Dysplasia Type 1

  • Isolated Median Cleft Face Syndrome

  • Doid:0081044

  • Doid:0081045

  • Dysplasia, Frontonasal, Type
Parietal Foramina

  • Enlarged Parietal Foramina

  • Hereditary Cranium Bifidum

  • Symmetric Parietal Foramina

  • Catlin Marks

  • Foramina Parietalia Permagna

  • Caitlin Marks

  • Cranium Bifidum

  • Cranium Bifidum Occultum

  • Fenestrae Parietals Symmetricae

  • Fpp

  • Giant Parietal Foramina

  • Pfm

  • Fenestrae Parietales Symmetricae

  • Foramina, Parietal
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS06414 HSH2D Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus HSH2D RGD RGD:2321939
Mus musculus HSH2D MGD MGI:2676364
Canis familiaris HSH2D VGNC VGNC:41818
Felis catus HSH2D VGNC VGNC:62853
Bos taurus HSH2D VGNC VGNC:29986
Others HSH2D NCBI