RHEX

regulator of hemoglobinization and erythroid cell expansion

Basic information

Region (hg38): 1:206053173-206102449

Previous symbols: [ "C1orf186" ]

Links

ENSG00000263961

∙ NCBI:440712 ∙ OMIM:616088 ∙ HGNC:25341 ∙ Uniprot:Q6ZWK4 ∙ 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 RHEX gene.

RHEX-related_disorder (6 variants)
not_specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RHEX gene is commonly pathogenic or not. These statistics are base on transcript: NM_001007544.4. 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				2 clinvar	1 clinvar	3
missense			1 clinvar		2 clinvar	3
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	1	2	3

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Acts as a signaling transduction factor of the EPO-EPOR signaling pathway promoting erythroid cell differentiation (PubMed:25092874). {ECO:0000269|PubMed:25092874}.;

Intolerance Scores

loftool
rvis_EVS: 0.26
rvis_percentile_EVS: 70.06

Haploinsufficiency Scores

pHI: 0.139
hipred: N
hipred_score: 0.123
ghis

Gene ontology

Biological process: cellular response to erythropoietin;erythropoietin-mediated signaling pathway;erythrocyte maturation;positive regulation of erythrocyte differentiation
Cellular component: plasma membrane;integral component of membrane
Molecular function: erythropoietin receptor binding;protein binding