HNRNPH2
Heterogeneous nuclear ribonucleoprotein H2
Also known as: FTP3, HNRH2_HUMAN, hnRNPH', HNRPH', HNRPH2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P55795
- Gene
- HNRNPH2
- Ensembl
- ENSG00000126945
- Chromosome
- X
- Canonical length
- 449 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
449 residues, UniProt reviewed canonical sequence.
>P55795|HNRNPH2
1 MMLSTEGREG FVVKVRGLPW SCSADEVMRF FSDCKIQNGT SGIRFIYTRE GRPSGEAFVE
61 LESEEEVKLA LKKDRETMGH RYVEVFKSNS VEMDWVLKHT GPNSPDTAND GFVRLRGLPF
121 GCSKEEIVQF FSGLEIVPNG MTLPVDFQGR STGEAFVQFA SQEIAEKALK KHKERIGHRY
181 IEIFKSSRAE VRTHYDPPRK LMAMQRPGPY DRPGAGRGYN SIGRGAGFER MRRGAYGGGY
241 GGYDDYGGYN DGYGFGSDRF GRDLNYCFSG MSDHRYGDGG SSFQSTTGHC VHMRGLPYRA
301 TENDIYNFFS PLNPMRVHIE IGPDGRVTGE ADVEFATHED AVAAMAKDKA NMQHRYVELF
361 LNSTAGTSGG AYDHSYVELF LNSTAGASGG AYGSQMMGGM GLSNQSSYGG PASQQLSGGY
421 GGGYGGQSSM SGYDQVLQEN SSDYQSNLALocalizationUniProt · AlphaFold · HPA
Whether an antibody against HNRNPH2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.47
- Highest tissue expression
- 117 nTPM
Expression across tissuesHPA
Tissue
- parathyroid gland: 117 nTPM
- skeletal muscle: 84 nTPM
- kidney: 74 nTPM
- bone marrow: 74 nTPM
- retina: 74 nTPM
- tongue: 73 nTPM
Single-cell type
- syncytiotrophoblasts: 389 nCPM
- neutrophils: 202 nCPM
- esophageal apical cells: 184 nCPM
- cytotrophoblasts: 157 nCPM
- migrating cytotrophoblasts: 127 nCPM
- decidual stromal cells: 110 nCPM
Immune cell
- neutrophil: 248 nTPM
- eosinophil: 165 nTPM
- basophil: 139 nTPM
- non-classical monocyte: 115 nTPM
- intermediate monocyte: 112 nTPM
- classical monocyte: 105 nTPM
Brain region
- white matter: 58 nTPM
- choroid plexus: 57 nTPM
- cerebral cortex: 55 nTPM
- basal ganglia: 54 nTPM
- hypothalamus: 54 nTPM
- medulla oblongata: 53 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about HNRNPH2.
Disease | AllUniProt
Conditions HNRNPH2 is implicated in, by any mechanism.
- Intellectual developmental disorder, X-linked, syndromic, Bain type (MRXSB) MIM:300986
Disease | GeneticClinVar
14 pathogenic / likely-pathogenic of 79 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.31
- gnomAD pLI
- 0.95
- gnomAD missense Z
- 3.62
- DepMap mean gene effect
- -0.09
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of HNRNPH2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads HNRNPH2 as an antibody target. Whether an autoantibody or antibody against HNRNPH2 could matter depends on whether native HNRNPH2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
HNRNPH2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label HNRNPH2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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