HNRNPH2 Chromosome X
Heterogeneous nuclear ribonucleoprotein H2
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What This Gene Does
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. [provided by RefSeq, Jan 2011]
Gene Info
Gene Group
"RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins"
Locus Type
gene with protein product
Location
Xq22.1
Ensembl
ENSG00000126945
Associated Conditions (10)
Inborn genetic diseases
Intellectual disability
X-linked
syndromic
Bain type
HNRNPH2-related disorder
Neurodevelopmental disorder
Neurodevelopmental delay
Stereotypic movement disorder
Abnormal facial shape
Key Variants
RS1555988422
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, X-linked
Health Risk
RS1555988314
Likely pathogenic
Intellectual disability, X-linked, syndromic
Health Risk
RS1928842837
Likely pathogenic
Intellectual disability, X-linked, syndromic
Health Risk
RS2520983929
Likely pathogenic
Intellectual disability, X-linked, syndromic
Health Risk
RS2520984887
Likely pathogenic
Intellectual disability, X-linked, syndromic
Health Risk
RS2520985089
Likely pathogenic
Health Risk
RS1555988404
Pathogenic
Health Risk
RS1555988417
Pathogenic
Intellectual disability, X-linked, syndromic
Health Risk
RS782191163
Pathogenic
Intellectual disability, X-linked, syndromic
Health Risk
RS886039764
Pathogenic
Intellectual disability, X-linked, syndromic
Health Risk
RS886039763
Pathogenic/Likely pathogenic
Intellectual disability, X-linked, syndromic
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555988422 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, X-linked |
| RS1555988314 | Health Risk | Likely pathogenic | Intellectual disability, X-linked, syndromic |
| RS1928842837 | Health Risk | Likely pathogenic | Intellectual disability, X-linked, syndromic |
| RS2520983929 | Health Risk | Likely pathogenic | Intellectual disability, X-linked, syndromic |
| RS2520984887 | Health Risk | Likely pathogenic | Intellectual disability, X-linked, syndromic |
| RS2520985089 | Health Risk | Likely pathogenic | — |
| RS1555988404 | Health Risk | Pathogenic | — |
| RS1555988417 | Health Risk | Pathogenic | Intellectual disability, X-linked, syndromic |
| RS782191163 | Health Risk | Pathogenic | Intellectual disability, X-linked, syndromic |
| RS886039764 | Health Risk | Pathogenic | Intellectual disability, X-linked, syndromic |
| RS886039763 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, X-linked, syndromic |