RBM8A - RNA binding motif protein 8A Gene

Also Known as TAR; Y14; RBM8; ZNRP; RBM8B; ZRNP1; BOV-1A; BOV-1B; BOV-1C; MDS014; DEL1q21.1; C1DELq21.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9939

About RBM8A

Cytogenetic location: 1q21.1 Genomic coordinates (GRCh38): 1:145,921,556-145,927,484 (from NCBI)

This gene has 8 transcripts (splice variants), 209 orthologues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 21.6), esophagus (RPKM 19.1) and 25 other tissues.

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 and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. There are two alternate translation start codons with this gene, which result in two forms of the protein. An allele mutation and a low-frequency noncoding single-nucleotide polymorphism (SNP) in this gene cause thrombocytopenia-absent radius (TAR) syndrome. [provided by RefSeq, Jul 2013]

RBM8A Products (1)

mRNA	Protein	Name
NM_005105.5	NP_005096.1	RNA-binding protein 8A

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	10662555	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	29301961	GOA
involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP IMP: Inferred from mutant phenotype	16209946	GOA
involved in regulation of alternative mRNA splicing, via spliceosome	IMP IMP: Inferred from mutant phenotype	22203037	GOA
involved in regulation of mRNA processing	IDA IDA: Inferred from direct assay	23115303	GOA
involved in regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IDA IDA: Inferred from direct assay	19478851	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of U2-type catalytic step 1 spliceosome	IDA IDA: Inferred from direct assay	29301961	GOA
part of catalytic step 2 spliceosome	IDA IDA: Inferred from direct assay	11991638	GOA
part of exon-exon junction complex	IDA IDA: Inferred from direct assay	16601204	GOA
part of exon-exon junction complex	IPI IPI: Inferred from physical interaction	16931718	GOA
part of exon-exon junction subcomplex mago-y14	IPI IPI: Inferred from physical interaction	12781131	GOA
located in nucleus	IDA IDA: Inferred from direct assay	29301961	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
RNA-binding protein 8A	BOV-1

RBM8A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RBM8A	Q9Y5S9	TCF12	Homo sapiens	Q99081-3	Y2H Array	32296183
Intra	RBM8A	Q9Y5S9	TCF12	Homo sapiens	Q99081-3	Y2H Prey Pooling	32296183
Intra	RBM8A	Q9Y5S9	EIF4A3	Homo sapiens	P38919	Anti Tag CoIP	16209946
Intra	RBM8A	Q9Y5S9	EIF4A3	Homo sapiens	P38919	Crosslink	23084401
Intra	RBM8A	Q9Y5S9	EIF4A3	Homo sapiens	P38919	Anti Tag CoIP	14730019
Intra	RBM8A	Q9Y5S9	EIF4A3	Homo sapiens	P38919	Anti Bait CoIP	19417104
Intra	RBM8A	Q9Y5S9	EIF4A3	Homo sapiens	P38919	Anti Tag CoIP	23084401
Intra	RBM8A	Q9Y5S9	EIF4A3	Homo sapiens	P38919	Anti Bait CoIP	23084401
Intra	RBM8A	Q9Y5S9	EIF4A3	Homo sapiens	P38919	Anti Tag CoIP	35271311
Intra	RBM8A	Q9Y5S9	THRAP3	Homo sapiens	Q9Y2W1	Anti Tag CoIP	35271311
Intra	RBM8A	Q9Y5S9	THRAP3	Homo sapiens	Q9Y2W1	Anti Tag CoIP	20123736
Intra	RBM8A	Q9Y5S9	UPF3B	Homo sapiens	Q9BZI7	Pull Down	11546873
Intra	RBM8A	Q9Y5S9	UPF3B	Homo sapiens	Q9BZI7	Anti Bait CoIP	23084401
Intra	RBM8A	Q9Y5S9	UPF3B	Homo sapiens	Q9BZI7	Anti Tag CoIP	16209946
Intra	RBM8A	Q9Y5S9	UPF3B	Homo sapiens	Q9BZI7	Anti Bait CoIP	11546873
Intra	RBM8A	Q9Y5S9	UPF3B	Homo sapiens	Q9BZI7	Anti Tag CoIP	12718880
Intra	RBM8A	Q9Y5S9	UPF3B	Homo sapiens	Q9BZI7	Anti Bait CoIP	16452507
Intra	RBM8A	Q9Y5S9	UPF3B	Homo sapiens	Q9BZI7	Anti Tag CoIP	11546874
Intra	RBM8A	Q9Y5S9	UPF3A	Homo sapiens	Q9H1J1	Pull Down	11546873
Intra	RBM8A	Q9Y5S9	UPF3A	Homo sapiens	Q9H1J1	Anti Tag CoIP	11546874
Intra	RBM8A	Q9Y5S9	UPF3A	Homo sapiens	Q9H1J1	Anti Bait CoIP	11546873
Intra	RBM8A	Q9Y5S9	SRPK1	Homo sapiens	Q96SB4	Anti Tag CoIP	35271311
Intra	RBM8A	Q9Y5S9	SRPK2	Homo sapiens	P78362	Protein Kinase Assay	23602568
Intra	RBM8A	Q9Y5S9	MAGOHB	Homo sapiens	Q96A72	Y2H Pooling	16189514
Intra	RBM8A	Q9Y5S9	MAGOHB	Homo sapiens	Q96A72	MAPPIT	32296183
Intra	RBM8A	Q9Y5S9	MAGOHB	Homo sapiens	Q96A72	Anti Tag CoIP	35271311

Cross: Cross-species interaction Intra: Intraspecies interaction

RBM8A Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82694	Y14 Antibody (YA2439)	WB, IHC-P, ICC/IF, FC, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Thrombocytopenia-Absent Radius Syndrome	Tar Syndrome Radial Aplasia-Thrombocytopenia Syndrome Absent Radii And Thrombocytopenia TAR Chromosome 1q21.1 Deletion Syndrome, 200-Kb Thrombocytopenia Absent Radius Syndrome Thrombocytopenia Absent Radii Chromosome 1q21.1 Deletion Syndrome Thrombocytopenia With Absent Radii Syndrome Radial Aplasia-Amegakaryocytic Thrombocytopenia
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Orofaciodigital Syndrome X	OFD10 Orofaciodigital Syndrome With Fibular Aplasia Oral-Facial-Digital Syndrome With Fibular Aplasia Ofds X Oral-Facial-Digital Syndrome, Type X Orofaciodigital Syndrome 10 Ofd Syndrome 10 Ofds 10 Oral Facial Digital Syndrome 10 Oral Facial Digital Syndrome Type 10 Oral-Facial-Digital Syndrome 10 Orofaciodigital Syndrome Type Figuera Orofaciodigital Syndrome Type 10 Figuera Syndrome Oral-Facial-Digital Syndrome Type 10
Amegakaryocytic Thrombocytopenia, Congenital	Congenital Amegakaryocytic Thrombocytopenia CAMT Thrombocytopenia, Congenital Amegakaryocytic Congenital Amegakaryocytic Thrombocytopenic Purpura Thrombocytopenia Congenital Amegakaryocytic Thrombocytopenia, Amegakaryocytic, Congenital
Kohler'S Disease	Kohler Disease Aseptic Necrosis Of The Tarsal Bone Osteochondrosis Of The Tarsal Bone Juvenile Osteochondrosis Of Foot Kohler'S Disease Of The Tarsal Navicular Kohler'S Osteochondrosis Of The Tarsal Navicular Navicular Osteochondrosis Obsolete: Osteochondritis Of Tarsal/Metatarsal Bone Osteochondritis Of Tarsal/Metatarsal Bone Avascular Necrosis Of The Tarsal Bone Larsen-Johansson Syndrome
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Ane Syndrome ANES Alopecia-Progressive Neurological Defect-Endocrinopathy Syndrome Alopecia-Progressive Neurological Defect-Endocrinopathy Endocrine System Diseases
Vacterl Association	Vater Association Vater Syndrome
46,Xy Sex Reversal 8	SRXY8 Male Pseudohermaphroditism Due To Deficiency Of Testicular 17,20-Desmolase Tdd 46,Xy Disorder Of Sex Development Due To Testicular 17,20-Desmolase Deficiency 46xy Sex Reversal 8 46xy Sex Reversal 8, Modifier Of Male Pseudohermaphroditism: Deficiency Of Testicular 17,20-Desmolase
Radioulnar Synostosis	Radio-Ulnar Synostosis Type 1
Cardiomyopathy, Dilated, 1m	Dilated Cardiomyopathy 1m CMD1M Cardiomyopathy, Dilated 1m Cardiomyopathy, Dilated, Type 1m
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Chromosomal Deletion Syndrome
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	FTDALS1 Frontotemporal Dementia And/Or Motor Neuron Disease Ftdmnd Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia Alsftd Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1 Frontotemporal Dementia With Motor Neuron Disease Ftdals Ftd-Als Ftd-Mnd Frontotemporal Dementia With Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1 Frontotemporal Lobar Degeneration Grn-Related Frontotemporal Dementia
Pick Disease Of Brain	Pick Disease Pick'S Disease Pick Disease Of The Brain Lobar Atrophy Of Brain Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions Behavioral Variant Of Frontotemporal Dementia Dementia In Pick'S Disease Lobar Atrophy Of The Brain Bvftd Bv-Ftd PIDB Picks Disease
Frontotemporal Dementia	Pallidopontonigral Degeneration Frontotemporal Lobar Degeneration Semantic Dementia FTD Frontotemporal Lobe Dementia Multiple System Tauopathy With Presenile Dementia Dementia, Frontotemporal Frontotemporal Dementia With Parkinsonism Mstd Frontotemporal Lobar Degeneration With Tau Inclusions Ftld With Tau Inclusions Dementia, Frontotemporal, With Parkinsonism Fldem Ftdp17 Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex Ddpac Wilhelmsen-Lynch Disease Wld Ppnd Dementia, Frontotemporal, With Or Without Parkinsonism Semantic Primary Progressive Aphasia Semantic Variant Ppa Wilhemsen-Lynch Disease Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17 Ftd-Als Ftld Pick Complex Pick Disease Of The Brain Frontotemporal Dementia With Parkinsonism-17 Grn-Related Frontotemporal Dementia Frontotemporal Dementia With Motor Neuron Disease Dementia In Fronto-Temporal Lobar Degeneration Ftd - [Frontotemporal Dementia] Temple Dementia Frontal Lobe Dementia
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11759	RBM8A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	RBM8A	VGNC	VGNC:80339
Bos taurus	RBM8A	VGNC	VGNC:33808
Macaca mulatta	RBM8A	VGNC	VGNC:76684
Canis familiaris	RBM8A	VGNC	VGNC:45426
Rattus norvegicus	RBM8A	RGD	RGD:1310099
Mus musculus	RBM8A	MGD	MGI:1913129
Others	RBM8A	NCBI