HNRNPH2 (heterogeneous nuclear ribonucleoprotein H2)

2011-04-01 Affiliation

Identity

HGNC

HNRNPH2

LOCATION

Xq22.1

LOCUSID

3188

ALIAS

FTP3,HNRPH,HNRPH2,MRXSB,NRPH2,hnRNPH

FUSION GENES

Show Gene Fusions

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)

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Gene Expression	REACTOME	R-HSA-74160
Processing of Capped Intron-Containing Pre-mRNA	REACTOME	R-HSA-72203
mRNA Splicing	REACTOME	R-HSA-72172
mRNA Splicing - Major Pathway	REACTOME	R-HSA-72163

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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)