RBM8A (RNA binding motif protein 8A)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9939
Gene name RNA binding motif protein 8A
Gene symbol RBM8A
Synonyms (NCBI Gene)
BOV-1ABOV-1BBOV-1CC1DELq21.1DEL1q21.1MDS014RBM8RBM8BTARY14ZNRPZRNP1
Chromosome 1
Chromosome location 1q21.1
Summary 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.
1986
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (44)
GO ID Ontology Definition Evidence Reference
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IEA
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IMP 16209946
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605313 9905 ENSG00000265241
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal brain morphology Likely pathogenic; Pathogenic rs201779890 RCV001270062
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clinodactyly of the 5th finger Likely pathogenic; Pathogenic rs201779890 RCV001270062
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay Likely pathogenic; Pathogenic rs201779890 RCV001270062
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Radial aplasia-thrombocytopenia syndrome Pathogenic; Likely pathogenic rs2101877791, rs1553756157, rs760383043, rs12079762, rs201779890, rs397515388, rs397515389, rs1648166006, rs1350809730, rs1648185461 RCV001620129
RCV002250290
RCV002250291
RCV003228720
RCV000023419
View all (6 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (3)
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
DESBUQUOIS SYNDROME — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME — ClinGen, Disgenet, HPO, Orphanet
ClinGen, Disgenet, HPO, Orphanet
ClinGen, Disgenet, HPO, Orphanet
ClinGen, Disgenet, HPO, Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (64)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 31816601 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 19112176, 26757674, 28129109, 28497562
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 23638902
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 23638902
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Aortic Aneurysm BEFREE 29550070
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Septal Defects Atrial Septal Defect HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 23638902
★★★★★
★☆☆☆☆
Found in Text Mining only
Axial malrotation of the kidney Axial malrotation of the kidney HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Brachycephaly Brachycephaly HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only