Gene Gene information from NCBI Gene database.
Entrez ID 3188
Gene name Heterogeneous nuclear ribonucleoprotein H2
Gene symbol HNRNPH2
Synonyms (NCBI Gene)
FTP3HNRPH'HNRPH2MRXSBNRPH2hnRNPH'
Chromosome X
Chromosome location Xq22.1
Summary 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 th
miRNA miRNA information provided by mirtarbase database.
157
miRTarBase ID miRNA Experiments Reference
MIRT043033 hsa-miR-324-5p CLASH 23622248
MIRT041915 hsa-miR-484 CLASH 23622248
MIRT1051559 hsa-miR-1237 CLIP-seq
MIRT1051560 hsa-miR-1245 CLIP-seq
MIRT1051561 hsa-miR-1248 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IBA
GO:0003723 Function RNA binding IEA
GO:0003723 Function RNA binding TAS 7499401
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300610 5042 ENSG00000126945
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P55795
Protein name Heterogeneous nuclear ribonucleoprotein H2 (hnRNP H2) (FTP-3) (Heterogeneous nuclear ribonucleoprotein H') (hnRNP H') [Cleaved into: Heterogeneous nuclear ribonucleoprotein H2, N-terminally processed]
Protein function 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
PDB 1WEZ , 1WG5 , 6DG1 , 8SGH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 13 84 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 113 182 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF08080 zf-RNPHF 255 290 RNPHF zinc finger Domain
PF00076 RRM_1 291 358 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed ubiquitously.
Sequence
MMLSTEGREGFVVKVRGLPWSCSADEVMRFFSDCKIQNGTSGIRFIYTREGRPSGEAFVE
LESEEEVKLALKKDRETMGHRYVE
VFKSNSVEMDWVLKHTGPNSPDTANDGFVRLRGLPF
GCSKEEIVQFFSGLEIVPNGMTLPVDFQGRSTGEAFVQFASQEIAEKALKKHKERIGHRY
IE
IFKSSRAEVRTHYDPPRKLMAMQRPGPYDRPGAGRGYNSIGRGAGFERMRRGAYGGGY
GGYDDYGGYNDGYGFGSDRFGRDLNYCFSGMSDHRYGDGGSSFQSTTGHCVHMRGLPYRA
TENDIYNFFSPLNPMRVHIEIGPDGRVTGEADVEFATHEDAVAAMAKDKANMQHRYVE
LF
LNSTAGTSGGAYDHSYVELFLNSTAGASGGAYGSQMMGGMGLSNQSSYGGPASQQLSGGY
GGGYGGQSSMSGYDQVLQENSSDYQSNLA
Sequence length 449
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    mRNA Splicing - Major Pathway
Processing of Capped Intron-Containing Pre-mRNA
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
26
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal facial shape Likely pathogenic; Pathogenic rs886039763 RCV002285013
HNRNPH2-related disorder Pathogenic rs886039764 RCV003401124
Intellectual disability, X-linked, syndromic, Bain type Pathogenic; Likely pathogenic rs782191163, rs2520984887, rs2520983929, rs1555988417, rs886039763, rs886039764, rs1555988314, rs1928842837 RCV001420155
RCV002287197
RCV002287599
RCV000509057
RCV000256179
RCV000256185
RCV000995563
RCV001265254
Neurodevelopmental delay Likely pathogenic; Pathogenic rs886039763 RCV002273991
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 37372334
Adrenocortical Carcinoma Associate 32915499
Alzheimer Disease Associate 28630030
Amyotrophic Lateral Sclerosis Associate 27623008
Autistic Disorder Associate 34907471, 37372334
Blood Coagulation Disorders Associate 32915499
Carcinoma Hepatocellular Associate 27088854, 32915499
Developmental Disabilities Associate 34907471, 37372334
Disease Associate 34907471
Frontotemporal Dementia Associate 27623008