HSP90AA4P

heat shock protein 90 alpha family class A member 4, pseudogene

Basic information

Previous symbols: [ "HSPCAL2" ]

Links

ENSG00000205100

∙ NCBI:3323 ∙ ∙ HGNC:5255 ∙ Uniprot:Q58FG1 ∙ 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 HSP90AA4P gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HSP90AA4P 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						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Putative molecular chaperone that may promote the maturation, structural maintenance and proper regulation of specific target proteins. {ECO:0000250}.;

Gene ontology

Biological process: protein folding;biological_process;response to heat;cellular response to heat;regulation of catalytic activity;protein stabilization
Cellular component: cellular_component;nucleus;cytoplasm;cytosol;plasma membrane;cell surface;protein-containing complex;neuronal cell body;myelin sheath;perinuclear region of cytoplasm
Molecular function: molecular_function;protein binding;ATP binding;nitric-oxide synthase regulator activity;protein homodimerization activity;unfolded protein binding;disordered domain specific binding