HSH2D

hematopoietic SH2 domain containing, the group of SH2 domain containing

Basic information

Region (hg38): 19:16134027-16158575

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.

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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			17		1	18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	0	2

Variants in HSH2D

This is a list of pathogenic ClinVar variants found in the HSH2D region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-16148761-C-T		not specified	Uncertain significance (Mar 25, 2024)
19-16148791-G-A		not specified	Uncertain significance (Apr 23, 2024)
19-16148847-G-A		not specified	Uncertain significance (Oct 03, 2022)
19-16148869-C-T		not specified	Uncertain significance (Apr 26, 2023)
19-16153104-C-T		not specified	Uncertain significance (May 23, 2024)
19-16153110-G-A		not specified	Uncertain significance (Oct 16, 2023)
19-16153122-C-T		not specified	Uncertain significance (Mar 28, 2024)
19-16153128-T-G		not specified	Uncertain significance (Aug 02, 2021)
19-16153136-C-T			Benign (Dec 31, 2019)
19-16153180-G-T		not specified	Uncertain significance (Feb 10, 2023)
19-16153201-G-A		not specified	Uncertain significance (Jun 02, 2023)
19-16154456-G-A		not specified	Uncertain significance (Jan 29, 2024)
19-16157232-G-A			Benign (Mar 29, 2018)
19-16157309-C-T		not specified	Uncertain significance (Jan 17, 2023)
19-16157380-G-C		not specified	Uncertain significance (Feb 13, 2023)
19-16157387-C-T		not specified	Uncertain significance (Feb 17, 2022)
19-16157405-C-A		not specified	Uncertain significance (Aug 16, 2021)
19-16157469-C-T		not specified	Uncertain significance (Jan 29, 2024)
19-16157478-G-A		not specified	Uncertain significance (Nov 16, 2021)
19-16157516-G-A		not specified	Uncertain significance (Aug 13, 2021)
19-16157534-G-A		not specified	Uncertain significance (Jan 19, 2022)
19-16157750-G-A		not specified	Uncertain significance (Sep 27, 2021)
19-16157781-C-T		not specified	Uncertain significance (Mar 16, 2022)

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
• ghis: 0.443

Essentials

• essential_gene_CRISPR2: N
• 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