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Aliases for RBMX Gene

Aliases for RBMX Gene

  • RNA Binding Motif Protein, X-Linked 2 3 5
  • Heterogeneous Nuclear Ribonucleoprotein G 2 3 4
  • Glycoprotein P43 3 4
  • HnRNP G 3 4
  • RBMXP1 3 4
  • HNRPG 3 4
  • RNA Binding Motif Protein, X Chromosome 2
  • RNA-Binding Motif Protein, X Chromosome 3
  • HnRNP-G 3
  • HNRNPG 3
  • MRXS11 3
  • RBMXRT 3
  • RNMX 3

External Ids for RBMX Gene

Previous GeneCards Identifiers for RBMX Gene

  • GC0XM130523
  • GC0XM132801
  • GC0XM133874
  • GC0XM134661
  • GC0XM135681
  • GC0XM135783
  • GC0XM135951
  • GC0XM125221

Summaries for RBMX Gene

Entrez Gene Summary for RBMX Gene

  • 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]

GeneCards Summary for RBMX Gene

RBMX (RNA Binding Motif Protein, X-Linked) is a Protein Coding gene. Diseases associated with RBMX include Mental Retardation, X-Linked, Syndromic 11, Shashi Type and X-Linked Hereditary Ataxia. Among its related pathways are DNA Damage and Translational Control. GO annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is RBMXL1.

UniProtKB/Swiss-Prot for RBMX Gene

  • RNA-binding protein that plays several role in the regulation of pre- and post-transcriptional processes. Implicated in tissue-specific regulation of gene transcription and alternative splicing of several pre-mRNAs. Binds to and stimulates transcription from the tumor suppressor TXNIP gene promoter; may thus be involved in tumor suppression. When associated with SAFB, binds to and stimulates transcription from the SREBF1 promoter. Associates with nascent mRNAs transcribed by RNA polymerase II. Component of the supraspliceosome complex that regulates pre-mRNA alternative splice site selection. Can either activate or suppress exon inclusion; acts additively with TRA2B to promote exon 7 inclusion of the survival motor neuron SMN2. Represses the splicing of MAPT/Tau exon 10. Binds preferentially to single-stranded 5-CC[A/C]-rich RNA sequence motifs localized in a single-stranded conformation; probably binds RNA as a homodimer. Binds non-specifically to pre-mRNAs. Plays also a role in the cytoplasmic TNFR1 trafficking pathways; promotes both the IL-1-beta-mediated inducible proteolytic cleavage of TNFR1 ectodomains and the release of TNFR1 exosome-like vesicles to the extracellular compartment.

Gene Wiki entry for RBMX Gene

Additional gene information for RBMX Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBMX Gene

Genomics for RBMX Gene

Regulatory Elements for RBMX Gene

Enhancers for RBMX Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH137438 1 ENCODE 52.9 -557.5 -557547 0.2 HDGF PKNOX1 ATF1 ARNT SIN3A YBX1 ZNF48 BRCA1 ZBTB7B TCF12 RBMX LOC100420958 SRRM1P3 RAC1P4 GC0XP137420
GH0XH136908 1.1 ENCODE 26.6 -29.3 -29337 2.6 HDGF PKNOX1 ARNT SIN3A YBX1 ZBTB7B SP3 MCM3 MCM5 ZNF610 SRRM1P3 RBMX MAP7D3 LOC100420958 ADGRG4 RNU6-972P CD40LG LOC100289184
GH0XH137563 0.9 ENCODE dbSUPER 13.1 -685.5 -685536 6.6 ZNF202 PKNOX1 L3MBTL2 SP2 USF2 SREBF1 E2F1 CTBP1 POLR2A CUX1 SRRM1P3 LOC100420958 RBMX ZIC3 ENSG00000283692
GH0XH136671 1 ENCODE dbSUPER 11.7 +206.9 206906 5.3 ZMYM3 BATF RELA ZNF316 EED ATF7 RUNX3 MAFK IKZF2 CREM CD40LG LINC00892 RBMX GC0XP136652 PIR61624
GH0XH136495 1 ENCODE 11.2 +383.6 383559 2.6 FOXA2 ATF1 SIN3A ZNF2 YY1 GTF3C2 GLIS2 KLF7 SP3 ZHX2 SRRM1P3 RBMX LOC100420958 MAP7D3 HTATSF1 VGLL1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RBMX on UCSC Golden Path with GeneCards custom track

Promoters for RBMX Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000249091 779 2800 PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 FOS

Genomic Locations for RBMX Gene

Genomic Locations for RBMX Gene
chrX:136,848,004-136,880,780
(GRCh38/hg38)
Size:
32,777 bases
Orientation:
Minus strand
chrX:135,930,163-135,962,939
(GRCh37/hg19)

Genomic View for RBMX Gene

Genes around RBMX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBMX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBMX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBMX Gene

Proteins for RBMX Gene

  • Protein details for RBMX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P38159-RBMX_HUMAN
    Recommended name:
    RNA-binding motif protein, X chromosome
    Protein Accession:
    P38159
    Secondary Accessions:
    • B4E3U4
    • D3DWH0
    • E9PG86
    • Q5JQ67
    • Q8N8Y7
    • Q969R3

    Protein attributes for RBMX Gene

    Size:
    391 amino acids
    Molecular mass:
    42332 Da
    Quaternary structure:
    • Homomultimer. Interacts with SAFB/SAFB1 (By similarity). Found in the supraspliceosome complex. Identified in the spliceosome C complex. Interacts with KHDRBS3. Forms a complex with ILF2, ILF3, YLPM1, KHDRBS1, NCOA5 and PPP1CA. Interacts with CLK2, KHDRBS2, SAFB, TRA2B and YTHDC1. Interacts with ERAP1; the interaction is RNA-independent.

    Three dimensional structures from OCA and Proteopedia for RBMX Gene

    Alternative splice isoforms for RBMX Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBMX Gene

Post-translational modifications for RBMX Gene

  • Arg-185 is dimethylated, probably to asymmetric dimethylarginine.
  • Cleavage of initiator Met is partial. If Met-1 is not removed, it is acetylated. If it is removed, Val-2 is acetylated.
  • O-glycosylated.
  • Ubiquitination at isoforms=2, 322 and Lys30
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RBMX Gene

Domains & Families for RBMX Gene

Gene Families for RBMX Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for RBMX Gene

Graphical View of Domain Structure for InterPro Entry

P38159

UniProtKB/Swiss-Prot:

RBMX_HUMAN :
  • The RRM domain is necessary for RNA-binding, but not for splice site selection, indicating that its splicing activity does not require direct binding to RNA.
Domain:
  • The RRM domain is necessary for RNA-binding, but not for splice site selection, indicating that its splicing activity does not require direct binding to RNA.
genes like me logo Genes that share domains with RBMX: view

Function for RBMX Gene

Molecular function for RBMX Gene

GENATLAS Biochemistry:
heterogeneous nuclear RNA ribonucleoprotein complex,core protein G (p43),RBMY paralog on chromosome X,previously mapped to chromosome 6 (see RBMXP1)
UniProtKB/Swiss-Prot Function:
RNA-binding protein that plays several role in the regulation of pre- and post-transcriptional processes. Implicated in tissue-specific regulation of gene transcription and alternative splicing of several pre-mRNAs. Binds to and stimulates transcription from the tumor suppressor TXNIP gene promoter; may thus be involved in tumor suppression. When associated with SAFB, binds to and stimulates transcription from the SREBF1 promoter. Associates with nascent mRNAs transcribed by RNA polymerase II. Component of the supraspliceosome complex that regulates pre-mRNA alternative splice site selection. Can either activate or suppress exon inclusion; acts additively with TRA2B to promote exon 7 inclusion of the survival motor neuron SMN2. Represses the splicing of MAPT/Tau exon 10. Binds preferentially to single-stranded 5-CC[A/C]-rich RNA sequence motifs localized in a single-stranded conformation; probably binds RNA as a homodimer. Binds non-specifically to pre-mRNAs. Plays also a role in the cytoplasmic TNFR1 trafficking pathways; promotes both the IL-1-beta-mediated inducible proteolytic cleavage of TNFR1 ectodomains and the release of TNFR1 exosome-like vesicles to the extracellular compartment.

Phenotypes From GWAS Catalog for RBMX Gene

Gene Ontology (GO) - Molecular Function for RBMX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001047 core promoter binding IDA 18541147
GO:0003676 nucleic acid binding IEA --
GO:0003682 chromatin binding IDA 18541147
GO:0003723 RNA binding IEA,NAS 7692398
GO:0003727 single-stranded RNA binding IEA --
genes like me logo Genes that share ontologies with RBMX: view
genes like me logo Genes that share phenotypes with RBMX: view

Human Phenotype Ontology for RBMX Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RBMX Gene

MGI Knock Outs for RBMX:
  • Rbmx tm2b(KOMP)Wtsi

Animal Model Products

CRISPR Products

miRNA for RBMX Gene

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RBMX Gene

Localization for RBMX Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBMX Gene

Nucleus. Note=Component of ribonucleosomes. Localizes in numerous small granules in the nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RBMX gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RBMX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 23580065
GO:0005634 nucleus IDA,IEA 10749975
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA --
GO:0005719 nuclear euchromatin IDA 21327109
genes like me logo Genes that share ontologies with RBMX: view

Pathways & Interactions for RBMX Gene

genes like me logo Genes that share pathways with RBMX: view

Pathways by source for RBMX Gene

3 Cell Signaling Technology pathways for RBMX Gene
1 BioSystems pathway for RBMX Gene

Gene Ontology (GO) - Biological Process for RBMX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IDA 12165565
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0001649 osteoblast differentiation IDA 16210410
GO:0006351 transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IDA 21327109
genes like me logo Genes that share ontologies with RBMX: view

No data available for SIGNOR curated interactions for RBMX Gene

Drugs & Compounds for RBMX Gene

No Compound Related Data Available

Transcripts for RBMX Gene

Unigene Clusters for RBMX Gene

RNA binding motif protein, X-linked:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for RBMX Gene

No ASD Table

Relevant External Links for RBMX Gene

GeneLoc Exon Structure for
RBMX
ECgene alternative splicing isoforms for
RBMX

Expression for RBMX Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RBMX Gene

Protein differential expression in normal tissues from HIPED for RBMX Gene

This gene is overexpressed in Nasal epithelium (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RBMX Gene



Protein tissue co-expression partners for RBMX Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RBMX Gene:

RBMX

SOURCE GeneReport for Unigene cluster for RBMX Gene:

Hs.380118

mRNA Expression by UniProt/SwissProt for RBMX Gene:

P38159-RBMX_HUMAN
Tissue specificity: Expressed strongly in oral keratinocytes, but only weakly detected in oral squamous cell carcinomas (at protein level).

Evidence on tissue expression from TISSUES for RBMX Gene

  • Nervous system(5)
  • Kidney(4.9)
  • Liver(4.5)
  • Muscle(4.5)
  • Lung(4.4)
  • Intestine(4.2)
  • Spleen(3.8)
  • Blood(3.7)
  • Heart(3.6)
  • Skin(3.4)
  • Eye(3.2)
  • Stomach(2.9)
genes like me logo Genes that share expression patterns with RBMX: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RBMX Gene

Orthologs for RBMX Gene

This gene was present in the common ancestor of animals.

Orthologs for RBMX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RBMX 33
  • 99.74 (n)
-- 34
  • 60 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Rbmxl1 34
  • 98 (a)
ManyToMany
Rbmx 33 16
  • 93.35 (n)
dog
(Canis familiaris)
Mammalia RBMX 33 34
  • 96.68 (n)
cow
(Bos Taurus)
Mammalia RBMX 33
  • 95.91 (n)
rat
(Rattus norvegicus)
Mammalia Rbmx 33
  • 93.64 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 93 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 90 (a)
OneToMany
chicken
(Gallus gallus)
Aves RBMX 33 34
  • 81.45 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 92 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rbmx 33
  • 77.22 (n)
Str.17070 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.25221 33
zebrafish
(Danio rerio)
Actinopterygii rbmx 33 34
  • 67.06 (n)
wufb37c07 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8906 33
fruit fly
(Drosophila melanogaster)
Insecta tra2 34
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rsp-8 34
  • 24 (a)
OneToMany
Species where no ortholog for RBMX was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RBMX Gene

ENSEMBL:
Gene Tree for RBMX (if available)
TreeFam:
Gene Tree for RBMX (if available)

Paralogs for RBMX Gene

Variants for RBMX Gene

Sequence variations from dbSNP and Humsavar for RBMX Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1000152083 -- 136,873,433(+) ACAGT(A/G)AGAGC intron-variant, downstream-variant-500B
rs1000300812 -- 136,875,904(+) TCAAG(G/T)GATTC intron-variant
rs1000366885 -- 136,882,267(+) AAAGA(A/G)ATTGA upstream-variant-2KB
rs1000384750 -- 136,875,599(+) AAAAT(A/G)TCATT intron-variant
rs1000487139 -- 136,871,668(+) TCTTC(G/T)TGAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RBMX Gene

Variant ID Type Subtype PubMed ID
esv3574735 CNV loss 25503493

Variation tolerance for RBMX Gene

Residual Variation Intolerance Score: 97.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.60; 12.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RBMX Gene

Human Gene Mutation Database (HGMD)
RBMX
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBMX

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBMX Gene

Disorders for RBMX Gene

MalaCards: The human disease database

(3) MalaCards diseases for RBMX Gene - From: HGMD, OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, x-linked, syndromic 11, shashi type
  • syndromic x-linked intellectual disability shashi type
x-linked hereditary ataxia
intellectual disability
- elite association - COSMIC cancer census association via MalaCards
Search RBMX in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RBMX_HUMAN
  • Mental retardation, X-linked, syndromic, 11 (MRXS11) [MIM:300238]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS11 patients manifest moderate intellectual disability and craniofacial dysmorphism. {ECO:0000269 PubMed:25256757}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RBMX

Genetic Association Database (GAD)
RBMX
Human Genome Epidemiology (HuGE) Navigator
RBMX
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RBMX
genes like me logo Genes that share disorders with RBMX: view

No data available for Genatlas for RBMX Gene

Publications for RBMX Gene

  1. Heterogeneous nuclear ribonucleoprotein G regulates splice site selection by binding to CC(A/C)-rich regions in pre-mRNA. (PMID: 19282290) Heinrich B … Stamm S (The Journal of biological chemistry 2009) 3 4 22 60
  2. HnRNP G and Tra2beta: opposite effects on splicing matched by antagonism in RNA binding. (PMID: 12761049) Nasim MT … Eperon IC (Human molecular genetics 2003) 3 4 22 60
  3. Expression and conservation of processed copies of the RBMX gene. (PMID: 11420617) Lingenfelter PA … Disteche CM (Mammalian genome : official journal of the International Mammalian Genome Society 2001) 3 4 22 60
  4. hnRNP G: sequence and characterization of a glycosylated RNA-binding protein. (PMID: 7692398) Soulard M … Dreyfuss G (Nucleic acids research 1993) 3 4 22 60
  5. The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome. (PMID: 25256757) Shashi V … Need AC (Clinical genetics 2015) 3 4 60

Products for RBMX Gene

Sources for RBMX Gene

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