RBMX - RNA binding motif protein X-linked Gene

Homo sapiens

Also known as RNMX; HNRPG; HNRNPG; MRXS11; RBMXP1; RBMXRT; hnRNP-G

Gene ID: 27316 | Gene type: protein coding

About RBMX

Cytogenetic location: Xq26.3 Genomic coordinates (GRCh38): X:136,869,192-136,880,725 (from NCBI)

This gene has 12 transcripts (splice variants), 70 orthologues, 36 paralogues and is associated with 1 phenotype. Ubiquitous expression in ovary (RPKM 77.9), lymph node (RPKM 53.8) and 25 other tissues.

Summary

This gene belongs to the RBMY gene family which includes candidate Y chromosome spermatogenesis genes. This gene, an active X chromosome homolog of the Y chromosome RBMY gene, is widely expressed whereas the RBMY gene evolved a male-specific function in spermatogenesis. Pseudogenes of this gene, found on chromosomes 1, 4, 9, 11, and 6, were likely derived by retrotransposition from the original gene. Alternatively spliced transcript variants encoding different isoforms have been identified. A snoRNA gene (SNORD61) is found in one of its introns. [provided by RefSeq, Sep 2009]

RBMX Products(2)

mRNA	Protein	Name
NM_001164803.2	NP_001158275.1	RNA-binding motif protein, X chromosome isoform 2
NM_002139.4	NP_002130.2	RNA-binding motif protein, X chromosome isoform 1

RBMX Protein Structure

RRM_1

RBM1CTR

0
100
200
300
391 a.a.

Protein Preferred Names

Protein Names

RNA-binding motif protein, X chromosome

glycoprotein p43

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, X-Linked, Syndromic 11

MRXS11	Shashi X-Linked Mental Retardation Syndrome
Smrxs	X-Linked Intellectual Disability, Shashi Type
Mental Retardation, X-Linked, Shashi Type	Intellectual Developmental Disorder, X-Linked Syndromic 11, Shashi Type
Mental Retardation X-Linked Shashi Type	Syndromic X-Linked Intellectual Disability Type 11
Intellectual Developmental Disorder, Syndromic 11, Shashi Type

Syndromic X-Linked Intellectual Disability Shashi Type

Mental Retardation, X-Linked, Syndromic 11, Shashi Type	Mrxs11
Shashi X-Linked Mental Retardation Syndrome	Smrxs
Syndromic X-Linked Intellectual Disability Type 11	X-Linked Mental Retardation Shashi Type
Mental Retardation, X-Linked, Syndromic 11

Thrombophilia, X-Linked, Due To Factor Ix Defect

THPH8	Deep Venous Thrombosis, Protection Against
X-Linked Thrombophilia Due To Factor Ix Defect	Thrombophilia, X-Linked, Due To Factor 9 Defect
Thrombophilia 8, X-Linked, Due To Factor Ix Defect

Borna Disease

Enzootic Encephalomyelitis

Lissencephaly, X-Linked, 2

X-Linked Lissencephaly With Abnormal Genitalia	Hydranencephaly With Abnormal Genitalia
Xlag	Xlisg
X-Linked Lissencephaly With Ambiguous Genitalia	LISX2
Lissencephaly, X-Linked 2	X-Linked Lissencephaly 2
X-Linked Lissencephaly-Corpus Callosum Agenesis-Genital Anomalies Syndrome	Xlag Syndrome
Lissencephaly, X-Linked, With Ambiguous Genitalia	Xlis2
X-Linked Lissencephaly - Agenesis Of The Corpus Callosum - Genital Anomalies	X-Linked Lissencephaly-Agenesis Of The Corpus Callosum-Genital Anomalies Syndrome
Xlag Syndrome	Lissencephaly X-Linked With Ambiguous Genitalia
Lissencephaly, X-Linked, Type 2	Chromosome Xq26.3 Duplication Syndrome

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

X-Linked Hereditary Ataxia

Fragile X-Associated Tremor/Ataxia Syndrome

Fxtas Syndrome	Fragile X Tremor/Ataxia Syndrome
Fxtas

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11763	RBMX Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	RBMX	MGD	MGI:1343044
Bos taurus	RBMX	VGNC	VGNC:56951
Canis familiaris	RBMX	VGNC	VGNC:54838
Rattus norvegicus	RBMX	RGD	RGD:1565256