HSH2D

protein-coding

hematopoietic SH2 domain containing, the group of SH2 domain containing

Gene 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]

MANE transcript

NM_001382417.1

Inheritance

—

ClinVar variants

U:35B:2

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr19:16,134,028-16,158,575

External References & Databases

Ensembl (ENSG00000196684)

Transcript & Mutation Effects

hg38 • Region Span ~24.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to HSH2D variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 34

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001382417.1. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous					1 clinvar	1
missense			35 clinvar		1 clinvar	36
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	35	0	2	37

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 22 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001382417.1	RefSeq	NP_001369346.1	5	MANE Select
ENST00000613986.4	Ensembl	ENSP00000483354.1	5	MANE Select
NM_001352265.2	RefSeq	NP_001339194.1	6	Standard
NM_001352266.2	RefSeq	NP_001339195.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

negative regulation of B cell apoptotic process
signal transduction
positive regulation of signal transduction
T cell activation
negative regulation of mitochondrial depolarization

Molecular Function

SH3/SH2 adaptor activity
protein binding

Cellular Component

nucleus
cytoplasm
mitochondrion
cytosol

dbNSFP Gene Annotations

Source: dbNSFP

Function: 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. {ECO:0000250, ECO:0000269|PubMed:11700021, ECO:0000269|PubMed:12960172, ECO:0000269|PubMed:15284240}.;

Recessive Scores

pRec: 0.130

Essentials

Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.235

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium