UniProtKB - P55795 (HNRH2_HUMAN)
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Protein
Heterogeneous nuclear ribonucleoprotein H2
Gene
HNRNPH2
Organism
Homo sapiens (Human)
Status
Functioni
This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Binds poly(RG).
GO - Molecular functioni
- RNA binding Source: UniProtKB
GO - Biological processi
- mRNA splicing, via spliceosome Source: Reactome
- RNA metabolic process Source: Reactome
Keywordsi
Molecular function | Ribonucleoprotein, RNA-binding |
Enzyme and pathway databases
Reactomei | R-HSA-72163. mRNA Splicing - Major Pathway. R-HSA-72203. Processing of Capped Intron-Containing Pre-mRNA. |
Names & Taxonomyi
Protein namesi | Recommended name: Heterogeneous nuclear ribonucleoprotein H2Short name: hnRNP H2 Alternative name(s): FTP-3 Heterogeneous nuclear ribonucleoprotein H' Short name: hnRNP H' Cleaved into the following chain: |
Gene namesi | Name:HNRNPH2 Synonyms:FTP3, HNRPH2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000126945.8. |
HGNCi | HGNC:5042. HNRNPH2. |
MIMi | 300610. gene. |
neXtProti | NX_P55795. |
Pathology & Biotechi
Involvement in diseasei
Mental retardation, X-linked, syndromic, Bain type (MRXSB)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSB patients manifest developmental delay, intellectual disability, autism, hypotonia, seizures, and dysmorphic facial features. Only females are affected.
See also OMIM:300986Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077233 | 206 | R → Q in MRXSB. 1 PublicationCorresponds to variant dbSNP:rs886039764Ensembl. | 1 | |
Natural variantiVAR_077234 | 206 | R → W in MRXSB. 1 PublicationCorresponds to variant dbSNP:rs886039763Ensembl. | 1 | |
Natural variantiVAR_077235 | 209 | P → L in MRXSB. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, Mental retardationOrganism-specific databases
DisGeNETi | 3188. |
MalaCardsi | HNRNPH2. |
MIMi | 300986. phenotype. |
OpenTargetsi | ENSG00000126945. |
PharmGKBi | PA162391316. |
Polymorphism and mutation databases
BioMutai | HNRNPH2. |
DMDMi | 2500576. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000081859 | 1 – 449 | Heterogeneous nuclear ribonucleoprotein H2Add BLAST | 449 | |
Initiator methioninei | Removed; alternateBy similarity | |||
ChainiPRO_0000434385 | 2 – 449 | Heterogeneous nuclear ribonucleoprotein H2, N-terminally processedAdd BLAST | 448 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionineCombined sources1 Publication | 1 | |
Modified residuei | 2 | N-acetylmethionine; in Heterogeneous nuclear ribonucleoprotein H2, N-terminally processedBy similarity | 1 | |
Modified residuei | 23 | PhosphoserineBy similarity | 1 | |
Cross-linki | 35 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 54 | PhosphoserineBy similarity | 1 | |
Modified residuei | 63 | PhosphoserineBy similarity | 1 | |
Cross-linki | 87 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity | ||
Modified residuei | 90 | PhosphoserineBy similarity | 1 | |
Cross-linki | 98 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity | ||
Modified residuei | 233 | Dimethylated arginine; alternateBy similarity | 1 | |
Modified residuei | 233 | Omega-N-methylarginine; alternateCombined sources | 1 | |
Modified residuei | 246 | PhosphotyrosineBy similarity | 1 | |
Modified residuei | 310 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | P55795. |
MaxQBi | P55795. |
PaxDbi | P55795. |
PeptideAtlasi | P55795. |
PRIDEi | P55795. |
2D gel databases
REPRODUCTION-2DPAGEi | IPI00026230. |
PTM databases
iPTMneti | P55795. |
PhosphoSitePlusi | P55795. |
SwissPalmi | P55795. |
Expressioni
Tissue specificityi
Expressed ubiquitously.
Gene expression databases
Bgeei | ENSG00000126945. |
CleanExi | HS_HNRNPH2. |
Genevisiblei | P55795. HS. |
Organism-specific databases
HPAi | CAB004436. HPA000914. HPA001359. HPA016884. |
Interactioni
Subunit structurei
Interacts with TXNL4/DIM1.1 Publication
Binary interactionsi
Protein-protein interaction databases
BioGridi | 109429. 119 interactors. |
IntActi | P55795. 95 interactors. |
MINTi | P55795. |
STRINGi | 9606.ENSP00000361927. |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more detailsFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Beta strandi | 112 – 117 | Combined sources | 6 | |
Helixi | 124 – 130 | Combined sources | 7 | |
Turni | 131 – 133 | Combined sources | 3 | |
Beta strandi | 136 – 142 | Combined sources | 7 | |
Beta strandi | 147 – 149 | Combined sources | 3 | |
Beta strandi | 153 – 161 | Combined sources | 9 | |
Helixi | 162 – 169 | Combined sources | 8 | |
Turni | 170 – 173 | Combined sources | 4 | |
Beta strandi | 176 – 179 | Combined sources | 4 | |
Beta strandi | 182 – 186 | Combined sources | 5 | |
Turni | 188 – 190 | Combined sources | 3 | |
Beta strandi | 286 – 288 | Combined sources | 3 | |
Beta strandi | 290 – 295 | Combined sources | 6 | |
Helixi | 302 – 307 | Combined sources | 6 | |
Beta strandi | 315 – 325 | Combined sources | 11 | |
Beta strandi | 327 – 334 | Combined sources | 8 | |
Beta strandi | 336 – 338 | Combined sources | 3 | |
Helixi | 339 – 345 | Combined sources | 7 | |
Beta strandi | 352 – 355 | Combined sources | 4 | |
Beta strandi | 358 – 362 | Combined sources | 5 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1WEZ | NMR | - | A | 281-369 | [»] | |
1WG5 | NMR | - | A | 103-193 | [»] | |
ProteinModelPortali | P55795. | |||||
SMRi | P55795. | |||||
ModBasei | Search... | |||||
MobiDBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P55795. |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 11 – 90 | RRM 1PROSITE-ProRule annotationAdd BLAST | 80 | |
Domaini | 111 – 188 | RRM 2PROSITE-ProRule annotationAdd BLAST | 78 | |
Repeati | 234 – 249 | 1-1Add BLAST | 16 | |
Domaini | 289 – 364 | RRM 3PROSITE-ProRule annotationAdd BLAST | 76 | |
Repeati | 354 – 372 | 2-1Add BLAST | 19 | |
Repeati | 374 – 392 | 2-2Add BLAST | 19 | |
Repeati | 418 – 433 | 1-2Add BLAST | 16 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 234 – 433 | 2 X 16 AA Gly-rich approximate repeatsAdd BLAST | 200 | |
Regioni | 354 – 392 | 2 X 19 AA perfect repeatsAdd BLAST | 39 |
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG4211. Eukaryota. ENOG410Z6M0. LUCA. |
GeneTreei | ENSGT00760000119102. |
HOGENOMi | HOG000220896. |
HOVERGENi | HBG055557. |
InParanoidi | P55795. |
KOi | K12898. |
OMAi | GTADAYF. |
OrthoDBi | EOG091G0CTJ. |
PhylomeDBi | P55795. |
TreeFami | TF316157. |
Family and domain databases
Gene3Di | 3.30.70.330. 3 hits. |
InterProi | View protein in InterPro IPR012677. Nucleotide-bd_a/b_plait_sf. IPR035979. RBD_domain_sf. IPR000504. RRM_dom. IPR012996. Znf_CHHC. |
Pfami | View protein in Pfam PF00076. RRM_1. 3 hits. PF08080. zf-RNPHF. 1 hit. |
SMARTi | View protein in SMART SM00360. RRM. 3 hits. |
SUPFAMi | SSF54928. SSF54928. 3 hits. |
PROSITEi | View protein in PROSITE PS50102. RRM. 3 hits. |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
P55795-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MMLSTEGREG FVVKVRGLPW SCSADEVMRF FSDCKIQNGT SGIRFIYTRE
60 70 80 90 100
GRPSGEAFVE LESEEEVKLA LKKDRETMGH RYVEVFKSNS VEMDWVLKHT
110 120 130 140 150
GPNSPDTAND GFVRLRGLPF GCSKEEIVQF FSGLEIVPNG MTLPVDFQGR
160 170 180 190 200
STGEAFVQFA SQEIAEKALK KHKERIGHRY IEIFKSSRAE VRTHYDPPRK
210 220 230 240 250
LMAMQRPGPY DRPGAGRGYN SIGRGAGFER MRRGAYGGGY GGYDDYGGYN
260 270 280 290 300
DGYGFGSDRF GRDLNYCFSG MSDHRYGDGG SSFQSTTGHC VHMRGLPYRA
310 320 330 340 350
TENDIYNFFS PLNPMRVHIE IGPDGRVTGE ADVEFATHED AVAAMAKDKA
360 370 380 390 400
NMQHRYVELF LNSTAGTSGG AYDHSYVELF LNSTAGASGG AYGSQMMGGM
410 420 430 440
GLSNQSSYGG PASQQLSGGY GGGYGGQSSM SGYDQVLQEN SSDYQSNLA
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077233 | 206 | R → Q in MRXSB. 1 PublicationCorresponds to variant dbSNP:rs886039764Ensembl. | 1 | |
Natural variantiVAR_077234 | 206 | R → W in MRXSB. 1 PublicationCorresponds to variant dbSNP:rs886039763Ensembl. | 1 | |
Natural variantiVAR_077235 | 209 | P → L in MRXSB. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U01923 mRNA. No translation available. U78027 Genomic DNA. Translation: AAB64202.1. AL035422 Genomic DNA. No translation available. CH471115 Genomic DNA. Translation: EAX02864.1. BC130343 mRNA. Translation: AAI30344.1. BC130345 mRNA. Translation: AAI30346.1. |
CCDSi | CCDS14485.1. |
RefSeqi | NP_001027565.1. NM_001032393.2. NP_062543.1. NM_019597.4. |
UniGenei | Hs.432485. |
Genome annotation databases
Ensembli | ENST00000316594; ENSP00000361927; ENSG00000126945. |
GeneIDi | 3188. |
KEGGi | hsa:3188. |
UCSCi | uc004ehm.4. human. |
Similar proteinsi
Entry informationi
Entry namei | HNRH2_HUMAN | |
Accessioni | P55795Primary (citable) accession number: P55795 Secondary accession number(s): A1L400, Q9HHA7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | November 1, 1997 | |
Last modified: | March 28, 2018 | |
This is version 193 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |