UniProtKB - P55795 (HNRH2_HUMAN)
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
- regulation of RNA splicing Source: GO_Central
- RNA metabolic process Source: Reactome
Keywordsi
Molecular function | Ribonucleoprotein, RNA-binding |
Enzyme and pathway databases
PathwayCommonsi | P55795 |
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
HGNCi | HGNC:5042, HNRNPH2 |
MIMi | 300610, gene |
neXtProti | NX_P55795 |
VEuPathDBi | HostDB:ENSG00000126945.8 |
Subcellular locationi
Nucleus
Cytosol
- cytosol Source: HPA
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: ProtInc
Other locations
- membrane Source: UniProtKB
- postsynaptic density Source: Ensembl
- ribonucleoprotein complex Source: MGI
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Mental retardation, X-linked, syndromic, Bain type (MRXSB)1 Publication
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077233 | 206 | R → Q in MRXSB. 1 PublicationCorresponds to variant dbSNP:rs886039764EnsemblClinVar. | 1 | |
Natural variantiVAR_077234 | 206 | R → W in MRXSB. 1 PublicationCorresponds to variant dbSNP:rs886039763EnsemblClinVar. | 1 | |
Natural variantiVAR_077235 | 209 | P → L in MRXSB. 1 PublicationCorresponds to variant dbSNP:rs1555988417EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Mental retardationOrganism-specific databases
DisGeNETi | 3188 |
MalaCardsi | HNRNPH2 |
MIMi | 300986, phenotype |
OpenTargetsi | ENSG00000126945 |
PharmGKBi | PA162391316 |
Miscellaneous databases
Pharosi | P55795, Tbio |
Chemistry databases
ChEMBLi | CHEMBL4296005 |
Genetic variation 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 |
jPOSTi | P55795 |
MassIVEi | P55795 |
MaxQBi | P55795 |
PaxDbi | P55795 |
PeptideAtlasi | P55795 |
PRIDEi | P55795 |
ProteomicsDBi | 56867 |
2D gel databases
REPRODUCTION-2DPAGEi | IPI00026230 |
PTM databases
iPTMneti | P55795 |
MetOSitei | P55795 |
PhosphoSitePlusi | P55795 |
SwissPalmi | P55795 |
Expressioni
Tissue specificityi
Expressed ubiquitously.
Gene expression databases
Bgeei | ENSG00000126945, Expressed in islet of Langerhans and 250 other tissues |
ExpressionAtlasi | P55795, baseline and differential |
Genevisiblei | P55795, HS |
Organism-specific databases
HPAi | ENSG00000126945, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with TXNL4/DIM1.
1 PublicationBinary interactionsi
Hide detailsP55795
Protein-protein interaction databases
BioGRIDi | 109429, 223 interactors |
IntActi | P55795, 101 interactors |
MINTi | P55795 |
STRINGi | 9606.ENSP00000361927 |
Miscellaneous databases
RNActi | P55795, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P55795 |
ModBasei | Search... |
PDBe-KBi | 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 |
GeneTreei | ENSGT00940000153503 |
HOGENOMi | CLU_032003_1_0_1 |
InParanoidi | P55795 |
OMAi | DEDQFDG |
OrthoDBi | 603679at2759 |
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:rs886039764EnsemblClinVar. | 1 | |
Natural variantiVAR_077234 | 206 | R → W in MRXSB. 1 PublicationCorresponds to variant dbSNP:rs886039763EnsemblClinVar. | 1 | |
Natural variantiVAR_077235 | 209 | P → L in MRXSB. 1 PublicationCorresponds to variant dbSNP:rs1555988417EnsemblClinVar. | 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 |
Genome annotation databases
Ensembli | ENST00000316594; ENSP00000361927; ENSG00000126945 |
GeneIDi | 3188 |
KEGGi | hsa:3188 |
UCSCi | uc004ehm.4, human |
Similar proteinsi
Cross-referencesi
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 |
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 | [»] | |
6DG1 | NMR | - | A | 94-194 | [»] | |
SMRi | P55795 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 109429, 223 interactors |
IntActi | P55795, 101 interactors |
MINTi | P55795 |
STRINGi | 9606.ENSP00000361927 |
Chemistry databases
ChEMBLi | CHEMBL4296005 |
PTM databases
iPTMneti | P55795 |
MetOSitei | P55795 |
PhosphoSitePlusi | P55795 |
SwissPalmi | P55795 |
Genetic variation databases
BioMutai | HNRNPH2 |
DMDMi | 2500576 |
2D gel databases
REPRODUCTION-2DPAGEi | IPI00026230 |
Proteomic databases
EPDi | P55795 |
jPOSTi | P55795 |
MassIVEi | P55795 |
MaxQBi | P55795 |
PaxDbi | P55795 |
PeptideAtlasi | P55795 |
PRIDEi | P55795 |
ProteomicsDBi | 56867 |
Protocols and materials databases
Antibodypediai | 343, 135 antibodies |
DNASUi | 3188 |
Genome annotation databases
Ensembli | ENST00000316594; ENSP00000361927; ENSG00000126945 |
GeneIDi | 3188 |
KEGGi | hsa:3188 |
UCSCi | uc004ehm.4, human |
Organism-specific databases
CTDi | 3188 |
DisGeNETi | 3188 |
GeneCardsi | HNRNPH2 |
HGNCi | HGNC:5042, HNRNPH2 |
HPAi | ENSG00000126945, Low tissue specificity |
MalaCardsi | HNRNPH2 |
MIMi | 300610, gene 300986, phenotype |
neXtProti | NX_P55795 |
OpenTargetsi | ENSG00000126945 |
PharmGKBi | PA162391316 |
VEuPathDBi | HostDB:ENSG00000126945.8 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4211, Eukaryota |
GeneTreei | ENSGT00940000153503 |
HOGENOMi | CLU_032003_1_0_1 |
InParanoidi | P55795 |
OMAi | DEDQFDG |
OrthoDBi | 603679at2759 |
PhylomeDBi | P55795 |
TreeFami | TF316157 |
Enzyme and pathway databases
PathwayCommonsi | P55795 |
Reactomei | R-HSA-72163, mRNA Splicing - Major Pathway R-HSA-72203, Processing of Capped Intron-Containing Pre-mRNA |
Miscellaneous databases
BioGRID-ORCSi | 3188, 9 hits in 504 CRISPR screens |
EvolutionaryTracei | P55795 |
GeneWikii | HNRPH2 |
GenomeRNAii | 3188 |
Pharosi | P55795, Tbio |
PROi | PR:P55795 |
RNActi | P55795, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000126945, Expressed in islet of Langerhans and 250 other tissues |
ExpressionAtlasi | P55795, baseline and differential |
Genevisiblei | P55795, HS |
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 |
ProtoNeti | Search... |
MobiDBi | Search... |
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: | February 10, 2021 | |
This is version 218 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references