Identity
HGNC
LOCATION
Xq22.1
LOCUSID
ALIAS
FTP3,HNRPH,HNRPH2,MRXSB,NRPH2,hnRNPH
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3188
MIM: 300610
HGNC: 5042
Ensembl: ENSG00000126945
Variants:
dbSNP: 3188
ClinVar: 3188
TCGA: ENSG00000126945
COSMIC: HNRNPH2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000126945 | ENST00000316594 | P55795 |
| ENSG00000126945 | ENST00000316594 | A0A384MDT2 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA166182881 | migalastat | Chemical | ClinicalAnnotation | associated | PD | ||
| PA443367 | Fabry Disease | Disease | ClinicalAnnotation | associated | PD |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37372334 | 2023 | Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder. | 1 |
| 37399401 | 2023 | The RNA-binding proteins hnRNP H and F regulate splicing of a MYC-dependent HRAS exon in prostate cancer cells. | 5 |
| 37372334 | 2023 | Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder. | 1 |
| 37399401 | 2023 | The RNA-binding proteins hnRNP H and F regulate splicing of a MYC-dependent HRAS exon in prostate cancer cells. | 5 |
| 34907471 | 2022 | Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males. | 6 |
| 34907471 | 2022 | Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males. | 6 |
| 34014051 | 2021 | Development and Pilot Screen of Novel High Content Assay for Down Regulators of Expression of Heterogenous Nuclear Ribonuclear Protein H2. | 0 |
| 34014051 | 2021 | Development and Pilot Screen of Novel High Content Assay for Down Regulators of Expression of Heterogenous Nuclear Ribonuclear Protein H2. | 0 |
| 31670473 | 2020 | Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2. | 9 |
| 31670473 | 2020 | Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2. | 9 |
| 27545675 | 2016 | Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females. | 36 |
| 27545675 | 2016 | Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females. | 36 |
| 26288249 | 2015 | Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development. | 25 |
| 26288249 | 2015 | Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development. | 25 |
| 24644279 | 2014 | Nuclear ARVCF protein binds splicing factors and contributes to the regulation of alternative splicing. | 6 |
Citation
Dessen P
HNRNPH2 (heterogeneous nuclear ribonucleoprotein H2)
Atlas Genet Cytogenet Oncol Haematol. 2011-04-01
Online version: http://atlasgeneticsoncology.org/gene/52200/hnrnph2-(heterogeneous-nuclear-ribonucleoprotein-h2)
