full name
RNA binding motif protein 8A

synonyms
BOV-1A, BOV-1B, BOV-1C, C1DELq21.1, DEL1q21.1, MDS014, RBM8, RBM8B, TAR, Y14, ZNRP, ZRNP1, RBM8A, ENSG00000265241

HGNC
HGNC:9905

Entrez Gene
Gene:9939

ENSEMBL
ENSG00000265241
ENSG00000131795

location
chr: 1
start: 145507557
stop: 145513536
strand: +

OMIM
OMIM:605313: RBM8A (Autosomal recessive inheritance)
OMIM:274000: Thrombocytopenia-absent radius syndrome

transcripts
NM_005105.4

pathways
Cleavage of Growing Transcript in the Termination Region [NCBI:1269686] [REACTOME:R-HSA-109688]
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) [NCBI:1269717] [REACTOME:R-HSA-975957] [PUBMED:19859661] [PUBMED:21496649] [PUBMED:17352659] [PUBMED:20795950] [PUBMED:19359157] [PUBMED:17531985] [PUBMED:17671086] [PUBMED:19410547]
Nonsense-Mediated Decay (NMD) [NCBI:1269716] [REACTOME:R-HSA-927802] [PUBMED:18524595] [PUBMED:17671086] [PUBMED:19359157] [PUBMED:17531985] [PUBMED:17352659] [PUBMED:21496649] [PUBMED:19859661] [PUBMED:20795950] [PUBMED:19010255]
Processing of Capped Intron-Containing Pre-mRNA [NCBI:1269688] [REACTOME:R-HSA-72203]
RNA Polymerase II Transcription [NCBI:1269675] [REACTOME:R-HSA-73857]
RNA Polymerase II Transcription Termination [NCBI:1269685] [REACTOME:R-HSA-73856]
RNA transport [NCBI:177876] [KEGG:hsa03013] [PUBMED:10872469] [PUBMED:17401408] [PUBMED:20733056] [PUBMED:11018020] [PUBMED:15519698] [PUBMED:16314458] [PUBMED:15901496] [PUBMED:9548260] [PUBMED:18313922]
Spliceosome [NCBI:125136] [KEGG:hsa03040] [PUBMED:10978320] [PUBMED:19239890] [PUBMED:19733268] [PUBMED:17537823]
Transport of Mature Transcript to Cytoplasm [NCBI:1269693] [REACTOME:R-HSA-72202]
Transport of Mature mRNA derived from an Intron-Containing Transcript [NCBI:1269694] [REACTOME:R-HSA-159236]
mRNA 3'-end processing [NCBI:1269692] [REACTOME:R-HSA-72187] [PUBMED:10371034] [PUBMED:10357856] [PUBMED:2408761] [PUBMED:11909521]
mRNA Splicing [NCBI:1269689] [REACTOME:R-HSA-72172] [PUBMED:12226669]
mRNA Splicing - Major Pathway [NCBI:1269690] [REACTOME:R-HSA-72163]
mRNA surveillance pathway [NCBI:193328] [KEGG:hsa03015] [PUBMED:16723977] [PUBMED:18158581] [PUBMED:16715045] [PUBMED:17183357] [PUBMED:15040442]