HNRNPH2 (heterogeneous nuclear ribonucleoprotein H2)

2011-04-01  

Identity

HGNC
LOCATION
Xq22.1
LOCUSID
ALIAS
FTP3,HNRPH,HNRPH2,MRXSB,NRPH2,hnRNPH
FUSION GENES

Other Information

Locus ID:

NCBI: 3188
MIM: 300610
HGNC: 5042
Ensembl: ENSG00000126945

Variants:

dbSNP: 3188
ClinVar: 3188
TCGA: ENSG00000126945
COSMIC: HNRNPH2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000126945ENST00000316594P55795
ENSG00000126945ENST00000316594A0A384MDT2

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166182881migalastatChemicalClinicalAnnotationassociatedPD
PA443367Fabry DiseaseDiseaseClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
161714612006The hnRNPs F and H2 bind to similar sequences to influence gene expression.31
262882492015Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.17
210683892011Heterogeneous nuclear ribonucleoprotein H1/H2-dependent unsplicing of thymidine phosphorylase results in anticancer drug resistance.15
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
275456752016Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.9
246442792014Nuclear ARVCF protein binds splicing factors and contributes to the regulation of alternative splicing.3

Citation

Dessen P

HNRNPH2 (heterogeneous nuclear ribonucleoprotein H2)

Atlas Genet Cytogenet Oncol Haematol. 2011-04-01

Online version: http://atlasgeneticsoncology.org/gene/52200/hnrnph2