HNRNPH2 wt Allele

Preferred Label : HNRNPH2 wt Allele;

NCIt synonyms : hnRNPH'; HNRPH2; Heterogeneous Nuclear Ribonucleoprotein H' Gene; FTP3; Heterogeneous Nuclear Ribonucleoprotein H2 wt Allele; NRPH2; MRXSB; HNRPH'; Heterogeneous Nuclear Ribonucleoprotein H-Prime Gene; Heterogeneous Nuclear Ribonucleoprotein H2 (H') Gene;

NCIt definition : Human HNRNPH2 wild-type allele is located in the vicinity of Xq22.1 and is approximately 6 kb in length. This allele, which encodes heterogeneous nuclear ribonucleoprotein H2, plays a role in the maturation of messenger RNA. Mutation of the gene is associated with the Bain type of X-linked syndromic mental retardation and may be associated with Fabray disease and X-linked agammaglobulinemia.;

NCI Metathesaurus CUI : CL1642369;

GenBank Accession Number : U01923;

Details

Origin ID

C176522;

UMLS CUI

C5444586;

Automatic exact mappings (from CISMeF team)
- Heterogeneous nuclear ribonucleoprotein h2 [OMIM gene]
- Heterogeneous-Nuclear ribonucleoprotein group F-H [MeSH Descriptor]
- Intellectual developmental disorder, X-linked, syndromic, bain type [OMIM Phenotype]
- heterogeneous nuclear ribonucleoprotein H1 [ORDO Gene]
OMIM relation
- Heterogeneous nuclear ribonucleoprotein h2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xq22.1 [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- RNA Processing [NCIt concept]
- RNA-Protein Interaction [NCIt concept]

Keyword's position in hierarchy(ies) :

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