Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10236
Gene name Gene Name - the full gene name approved by the HGNC.
Heterogeneous nuclear ribonucleoprotein R
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HNRNPR
Synonyms (NCBI Gene) Gene synonyms aliases
HNRPR, NEDDFSB, hnRNP-R
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.12
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an RNA-binding protein that is a member of the spliceosome C complex, which functions in pre-mRNA processing and transport. The encoded protein also promotes transcription at the c-fos gene. Alternative splicing results in multiple trans
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1553153365 G>A Likely-pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT031331 hsa-miR-18a-5p Sequencing 20371350
MIRT040144 hsa-miR-615-3p CLASH 23622248
MIRT038314 hsa-miR-130b-5p CLASH 23622248
MIRT036632 hsa-miR-940 CLASH 23622248
MIRT657328 hsa-miR-6750-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
GO:0000398 Process MRNA splicing, via spliceosome IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607201 5047 ENSG00000125944
Protein
UniProt ID O43390
Protein name Heterogeneous nuclear ribonucleoprotein R (hnRNP R)
Protein function Component of ribonucleosomes, which are complexes of at least 20 other different heterogeneous nuclear ribonucleoproteins (hnRNP). hnRNP play an important role in processing of precursor mRNA in the nucleus.
PDB 2DK2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18360 hnRNP_Q_AcD 37 106 Heterogeneous nuclear ribonucleoprotein Q acidic domain Domain
PF00076 RRM_1 167 235 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 248 315 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 343 405 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Sequence
MANQVNGNAVQLKEEEEPMDTSSVTHTEHYKTLIEAGLPQKVAERLDEIFQTGLVAYVDL
DERAIDALREFNEEGALSVLQQFKESDLSHVQNKSAFLCGVMKTYR
QREKQGSKVQESTK
GPDEAKIKALLERTGYTLDVTTGQRKYGGPPPDSVYSGVQPGIGTEVFVGKIPRDLYEDE
LVPLFEKAGPIWDLRLMMDPLSGQNRGYAFITFCGKEAAQEAVKLCDSYEIRPGK
HLGVC
ISVANNRLFVGSIPKNKTKENILEEFSKVTEGLVDVILYHQPDDKKKNRGFCFLEYEDHK
SAAQARRRLMSGKVK
VWGNVVTVEWADPVEEPDPEVMAKVKVLFVRNLATTVTEEILEKS
FSEFGKLERVKKLKDYAFVHFEDRGAAVKAMDEMNGKEIEGEEIE
IVLAKPPDKKRKERQ
AARQASRSTAYEDYYYHPPPRMPPPIRGRGRGGGRGGYGYPPDYYGYEDYYDDYYGYDYH
DYRGGYEDPYYGYDDGYAVRGRGGGRGGRGAPPPPRGRGAPPPRGRAGYSQRGAPLGPPR
GSRGGRGGPAQQQRGRGSRGSRGNRGGNVGGKRKADGYNQPDSKRRQTNNQQNWGSQPIA
QQPLQQGGDYSGNYGYNNDNQEFYQDTYGQQWK
Sequence length 633
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)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Mental retardation syndromic intellectual disability N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Achondroplasia Associate 31079900
Anemia Associate 36195940
Autoimmune Diseases Associate 9421497
Brachydactyly Associate 31079900
Cardiovascular Diseases Associate 34258925
Congenital Abnormalities Associate 31079900
Developmental Defects of Enamel Associate 31079900
Developmental Disabilities Associate 31079900
Disorders of Sex Development Associate 31079900
Esophageal Neoplasms Associate 36195940