Gene: RPL36A-HNRNPH2

Alternate names for this Gene: -

Gene Summary: This locus represents naturally occurring read-through transcription between the neighboring ribosomal protein L36a and heterogeneous nuclear ribonucleoprotein H2 (H') genes on chromosome X. The read-through transcript produces a protein with similarity to the protein encoded by the upstream locus, ribosomal protein L36a. Alternatively spliced transcript variants have been identified.

Gene is located in Chromosome: X

Location in Chromosome : Xq22.1

Description of this Gene: RPL36A-HNRNPH2 readthrough

Type of Gene: protein-coding

Gene: HNRNPH2

Alternate names for this Gene: FTP3|HNRPH'|HNRPH2|MRXSB|NRPH2|hnRNPH'

Gene Summary: This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that binds to RNAs. It is very similar to the family member HNRPH1. This gene is thought to be involved in Fabray disease and X-linked agammaglobulinemia phenotype. Alternative splicing results in multiple transcript variants encoding the same protein. Read-through transcription between this locus and the ribosomal protein L36a gene has been observed.

Gene is located in Chromosome: X

Location in Chromosome : Xq22.1

Description of this Gene: heterogeneous nuclear ribonucleoprotein H2

Type of Gene: protein-coding

rs886039763 in RPL36A-HNRNPH2;HNRNPH2 gene and Dysmorphic features PMID 27545675 2016 Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.

PMID 25348405 2015 UniProt: a hub for protein information.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

rs1555988417 in RPL36A-HNRNPH2;HNRNPH2 gene and MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE PMID 27545675 2016 Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.

rs886039763 in RPL36A-HNRNPH2;HNRNPH2 gene and Muscle hypotonia PMID 25348405 2015 UniProt: a hub for protein information.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 27545675 2016 Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.