Gene Gene information from NCBI Gene database.
Entrez ID 3183
Gene name Heterogeneous nuclear ribonucleoprotein C
Gene symbol HNRNPC
Synonyms (NCBI Gene)
C1C2HNRNPHNRPCMRD74SNRPC
Chromosome 14
Chromosome location 14q11.2
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.
586
miRTarBase ID miRNA Experiments Reference
MIRT051596 hsa-let-7e-5p CLASH 23622248
MIRT047904 hsa-miR-30c-5p CLASH 23622248
MIRT045150 hsa-miR-186-5p CLASH 23622248
MIRT043694 hsa-miR-342-3p CLASH 23622248
MIRT042196 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IC 9731529, 11991638
GO:0000398 Process MRNA splicing, via spliceosome IMP 25719671
GO:0000785 Component Chromatin HDA 16217013
GO:0001649 Process Osteoblast differentiation HDA 16210410
GO:0003676 Function Nucleic acid binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
164020 5035 ENSG00000092199
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P07910
Protein name Heterogeneous nuclear ribonucleoproteins C1/C2 (hnRNP C1/C2)
Protein function Binds pre-mRNA and nucleates the assembly of 40S hnRNP particles (PubMed:8264621). Interacts with poly-U tracts in the 3'-UTR or 5'-UTR of mRNA and modulates the stability and the level of translation of bound mRNA molecules (PubMed:12509468, Pu
PDB 1TXP , 1WF2 , 2MXY , 2MZ1 , 3LN4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 18 81 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Sequence
MASNVTNKTDPRSMNSRVFIGNLNTLVVKKSDVEAIFSKYGKIVGCSVHKGFAFVQYVNE
RNARAAVAGEDGRMIAGQVLD
INLAAEPKVNRGKAGVKRSAAEMYGSVTEHPSPSPLLSS
SFDLDYDFQRDYYDRMYSYPARVPPPPPIARAVVPSKRQRVSGNTSRRGKSGFNSKSGQR
GSSKSGKLKGDDLQAIKKELTQIKQKVDSLLENLEKIEKEQSKQAVEMKNDKSEEEQSSS
SVKKDETNVKMESEGGADDSAEEGDLLDDDDNEDRGDDQLELIKDDEKEAEEGEDDRDSA
NGEDDS
Sequence length 306
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Spliceosome   SUMOylation of RNA binding proteins
mRNA Splicing - Major Pathway
Processing of Capped Intron-Containing Pre-mRNA
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual developmental disorder, autosomal dominant 74 Pathogenic rs2501840293, rs1284488942 RCV003493378
RCV003493833
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma GWASDB_DG 19836008
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 33725886 Inhibit
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 33952721 Associate
★☆☆☆☆
Found in Text Mining only
Adult type dermatomyositis Dermatomyositis BEFREE 1090155
★☆☆☆☆
Found in Text Mining only
Adult type dermatomyositis Dermatomyositis CTD_human_DG 3501473
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 16518403, 17576744, 18806293, 18806297, 19696172, 22232432, 24453474, 29801032
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration CTD_human_DG 16518403
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration LHGDN 17576744, 18806297
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration GWASDB_DG 20385819, 21665990, 22694956, 22705344, 23577725
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration GWASCAT_DG 20385819, 21665990
★☆☆☆☆
Found in Text Mining only