HSH2D - hematopoietic SH2 domain containing Gene

Homo sapiens

Also known as ALX; HSH2

Gene ID: 84941 | Gene type: protein coding

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	Reference	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

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06414	HSH2D Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.