HSH2D

hematopoietic SH2 domain containing, the group of SH2 domain containing

Basic information

Region (hg38): 19:16134028-16158575

Links

ENSG00000196684

∙ NCBI:84941 ∙ OMIM:608349 ∙ HGNC:24920 ∙ Uniprot:Q96JZ2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the HSH2D gene.

not_specified (33 variants)
not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HSH2D gene is commonly pathogenic or not. These statistics are base on transcript: NM_001382417.1. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous					1 clinvar	1
missense			33 clinvar		1 clinvar	34
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	33	0	2

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

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

Haploinsufficiency Scores

pHI: 0.0862
hipred
hipred_score
ghis: 0.443

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2: N
essential_gene_gene_trap
gene_indispensability_pred: N
gene_indispensability_score: 0.235

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Hsh2d
Phenotype: immune system phenotype; hematopoietic system phenotype;

Gene ontology

Biological process: negative regulation of B cell apoptotic process;signal transduction;positive regulation of signal transduction;T cell activation;negative regulation of mitochondrial depolarization
Cellular component: nucleus;cytoplasm;mitochondrion;cytosol
Molecular function: SH3/SH2 adaptor activity;protein binding