Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3188
Gene name Gene Name - the full gene name approved by the HGNC.
Heterogeneous nuclear ribonucleoprotein H2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HNRNPH2
Synonyms (NCBI Gene) Gene synonyms aliases
FTP3, HNRPH', HNRPH2, MRXSB, NRPH2, hnRNPH'
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq22.1
Summary Summary of gene provided in NCBI Entrez 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 th
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300610 5042 ENSG00000126945
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental Retardation, X-Linked Intellectual disability, X-linked, syndromic, Bain type rs1555988417, rs886039763, rs886039764, rs1555988314 N/A
Associations from Text Mining Disease 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