RBM8A (RNA binding motif protein 8A)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9939
Gene name Gene Name - the full gene name approved by the HGNC.
RNA binding motif protein 8A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RBM8A
Synonyms (NCBI Gene) Gene synonyms aliases
BOV-1A, BOV-1B, BOV-1C, C1DELq21.1, DEL1q21.1, MDS014, RBM8, RBM8B, TAR, Y14, ZNRP, ZRNP1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
TAR
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1986)
miRTarBase ID miRNA Experiments Reference
MIRT016487 hsa-miR-193b-3p Microarray 20304954
MIRT019607 hsa-miR-340-5p Sequencing 20371350
MIRT051599 hsa-let-7e-5p CLASH 23622248
MIRT045184 hsa-miR-186-5p CLASH 23622248
MIRT043578 hsa-miR-148b-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(28)
GO ID Ontology Definition Evidence Reference
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IMP 16209946
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IMP 22203037
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
GO:0000398 Process MRNA splicing, via spliceosome IDA 29301961
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605313 9905 ENSG00000265241
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9Y5S9
Protein name RNA-binding protein 8A (Binder of OVCA1-1) (BOV-1) (RNA-binding motif protein 8A) (RNA-binding protein Y14) (Ribonucleoprotein RBM8A)
Protein function Required for pre-mRNA splicing as component of the spliceosome (PubMed:28502770, PubMed:29301961). Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs. The EJC is a dynamic str
PDB 1P27 , 2HYI , 2J0Q , 2J0S , 2XB2 , 3EX7 , 5XJC , 5YZG , 6ICZ , 6QDV , 7A5P , 7W59 , 7W5A , 7W5B , 7ZNJ , 8C6J , 8I0W , 9FMD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 75 → 145 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence 
MADVLDLHEAGGEDFAMDEDGDESIHKLKEKAKKRKGRGFGSEEGSRARMREDYDSVEQD
GDEPGPQRSVEGWILFVTGVHEEATEEDIHDKFAEYGEIKNIHLNLDRRTGYLKGYTLVE
YETYKEAQAAMEGLNGQDLMGQPISVDWCFVRGPPKGKRRGGRRRSRSPDRRRR
Sequence length 174
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Nucleocytoplasmic transport
mRNA surveillance pathway
Spliceosome 		  Transport of Mature mRNA derived from an Intron-Containing Transcript
mRNA Splicing - Major Pathway
mRNA 3'-end processing
RNA Polymerase II Transcription Termination
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (9)
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Dyskeratosis congenita DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 rs121908092, rs121908089, rs121908090, rs121908091, rs121918543, rs121918544, rs121918545, rs1553915517, rs199422284, rs199476393, rs199422277, rs199422270, rs137854489, rs121912288, rs121912304
View all (113 more)		 17236129
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Show/Hide Text Mining Associations (20)
Associations from Text Mining
Disease Name Relationship Type References
Absent radii and thrombocytopenia Associate 24053387, 28857120, 31836590, 32127157, 36077017, 37611607, 37895316
Alzheimer Disease Inhibit 31816601
Axial Spondyloarthritis Associate 35359923
Cakut Associate 24053387
Carcinogenesis Associate 30670676
Carcinoma Hepatocellular Associate 30631005, 30670676
Heredodegenerative Disorders Nervous System Associate 31816601
Hypertension Associate 32664164
Infections Associate 19268337
Leukemia Associate 17005036