Gene Gene information from NCBI Gene database.
Entrez ID 27316
Gene name RNA binding motif protein X-linked
Gene symbol RBMX
Synonyms (NCBI Gene)
HNRNPGHNRPGMRXS11MRXSGMRXSHRBMXP1RBMXRTRNMXhnRNP-G
Chromosome X
Chromosome location Xq26.3
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 s
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs181515589 A>G Likely-pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
275
miRTarBase ID miRNA Experiments Reference
MIRT048174 hsa-miR-196a-5p CLASH 23622248
MIRT047229 hsa-miR-181b-5p CLASH 23622248
MIRT045695 hsa-miR-126-3p CLASH 23622248
MIRT1297188 hsa-miR-1245 CLIP-seq
MIRT1297189 hsa-miR-3126-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IDA 12165565, 12761049
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
GO:0000791 Component Euchromatin IDA 21327109
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 18541147
GO:0001649 Process Osteoblast differentiation HDA 16210410
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300199 9910 ENSG00000147274
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P38159
Protein name RNA-binding motif protein, X chromosome (Glycoprotein p43) (Heterogeneous nuclear ribonucleoprotein G) (hnRNP G) [Cleaved into: RNA-binding motif protein, X chromosome, N-terminally processed]
Protein 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 trans
PDB 2MB0 , 2MKS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 10 80 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF08081 RBM1CTR 173 217 RBM1CTR (NUC064) family Family
Tissue specificity TISSUE SPECIFICITY: Expressed strongly in oral keratinocytes, but only weakly detected in oral squamous cell carcinomas (at protein level). {ECO:0000269|PubMed:16707624}.
Sequence
MVEADRPGKLFIGGLNTETNEKALEAVFGKYGRIVEVLLMKDRETNKSRGFAFVTFESPA
DAKDAARDMNGKSLDGKAIK
VEQATKPSFESGRRGPPPPPRSRGPPRGLRGGRGGSGGTR
GPPSRGGHMDDGGYSMNFNMSSSRGPLPVKRGPPPRSGGPPPKRSAPSGPVRSSSGMGGR
APVSRGRDSYGGPPRREPLPSRRDVYLSPRDDGYSTK
DSYSSRDYPSSRDTRDYAPPPRD
YTYRDYGHSSSRDDYPSRGYSDRDGYGRDRDYSDHPSGGSYRDSYESYGNSRSAPPTRGP
PPSYGGSSRYDDYSSSRDGYGGSRDSYSSSRSDLYSSGRDRVGRQERGLPPSMERGYPPP
RDSYSSSSRGAPRGGGRGGSRSDRGGGRSRY
Sequence length 391
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Spliceosome   mRNA Splicing - Major Pathway
Processing of Capped Intron-Containing Pre-mRNA
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
17
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Severe X-linked intellectual disability, Gustavson type Pathogenic; Likely pathogenic rs2522762140, rs2522767271 RCV003493372
RCV003988937
Syndromic X-linked intellectual disability Shashi type Pathogenic rs2522753214 RCV000412659
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CIC-rearranged sarcoma not provided rs1256966146, rs201673579 RCV000993824
RCV000993821
RBMX-related disorder Uncertain significance; Benign rs2148714108, rs767553768, rs1354258822 RCV003394490
RCV003909285
RCV003901641
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Bipolar Disorder Associate 34914762
Carcinoma Hepatocellular Associate 38214653
Carcinoma Renal Cell Associate 32251007
Colorectal Neoplasms Associate 37194014
Developmental Disabilities Associate 25256757
Endometrial Neoplasms Associate 34347888
Esophageal Neoplasms Associate 36159855
Fanconi Anemia Associate 34404366
Head and Neck Neoplasms Associate 32132325
Intellectual Disability Associate 34260915