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Gene Gene information from NCBI Gene database.
Entrez ID 51634
Gene name RNA binding motif protein X-linked 2
Gene symbol RBMX2
Synonyms (NCBI Gene)
CGI-79Snu17
Chromosome X
Chromosome location Xq26.1
miRNA miRNA information provided by mirtarbase database.
59 Show/Hide all (59)
miRTarBase ID miRNA Experiments Reference
MIRT2088313 hsa-miR-1200 CLIP-seq
MIRT2088314 hsa-miR-204 CLIP-seq
MIRT2088315 hsa-miR-211 CLIP-seq
MIRT2088316 hsa-miR-3074-5p CLIP-seq
MIRT2088317 hsa-miR-3115 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25 Show/Hide all (25)
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IBA
GO:0000398 Process MRNA splicing, via spliceosome IDA 29360106
GO:0000398 Process MRNA splicing, via spliceosome IEA
GO:0000398 Process MRNA splicing, via spliceosome NAS 31744343
GO:0003676 Function Nucleic acid binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y388
Protein name RNA-binding motif protein, X-linked 2
Protein function Involved in pre-mRNA splicing as component of the activated spliceosome. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). {ECO:0000269|PubMed:29360106, ECO:0000269|PubMed:29361316, EC
PDB 5Z56 , 5Z57 , 5Z58 , 6FF4 , 6FF7 , 7ABH , 7ABI , 7DVQ , 8I0P , 8I0R
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 38 → 108 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Sequence
MNPLTKVKLINELNEREVQLGVADKVSWHSEYKDSAWIFLGGLPYELTEGDIICVFSQYG
EIVNINLVRDKKTGKSKGFCFLCYEDQRSTILAVDNFNGIKIKGRTIR
VDHVSNYRAPKD
SEEIDDVTRQLQEKGCGARTPSPSLSESSEDEKPTKKHKKDKKEKKKKKKEKEKADREVQ
AEQPSSSSPRRKTVKEKDDTGPKKHSSKNSERAQKSEPREGQKLPKSRTAYSGGAEDLER
ELKKEKPKHEHKSSSRREAREEKTRIRDRGRSSDAHSSWYNGRSEGRSYRSRSRSRDKSH
RHKRARRSRERESSNPSDRWRH
Sequence length 322
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Abnormality of neuronal migration Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Bipolar Disorder Bipolar disorder Pubtator 34914762 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 17012841
★★★★★
★☆☆☆☆
Found in Text Mining only