HNRNPH2 (heterogeneous nuclear ribonucleoprotein H2)

2011-04-01  

Identity

HGNC
HNRNPH2
LOCATION
Xq22.1
LOCUSID
3188
ALIAS
FTP3,HNRPH,HNRPH2,MRXSB,NRPH2,hnRNPH
FUSION GENES
Show Gene Fusions

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
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

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166182881migalastatChemicalClinicalAnnotationassociatedPD
PA443367Fabry DiseaseDiseaseClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
373723342023Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder.1
373994012023The RNA-binding proteins hnRNP H and F regulate splicing of a MYC-dependent HRAS exon in prostate cancer cells.5
373723342023Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder.1
373994012023The RNA-binding proteins hnRNP H and F regulate splicing of a MYC-dependent HRAS exon in prostate cancer cells.5
349074712022Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.6
349074712022Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.6
340140512021Development and Pilot Screen of Novel High Content Assay for Down Regulators of Expression of Heterogenous Nuclear Ribonuclear Protein H2.0
340140512021Development and Pilot Screen of Novel High Content Assay for Down Regulators of Expression of Heterogenous Nuclear Ribonuclear Protein H2.0
316704732020Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.9
316704732020Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.9
275456752016Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.36
275456752016Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.36
262882492015Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.25
262882492015Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.25
246442792014Nuclear 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/js/deep-insight-explorer/case-report-explorer/favicon/apple-touch-icon.png