RBM8A - RNA binding motif protein 8A Gene

Homo sapiens

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

Gene ID: 9939 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	10662555	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

Bioactive Molecules (1)

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

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