Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 375287
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol RBM43   Gene   UCSC   Ensembl
Aliases C2orf38
Gene name RNA binding motif protein 43
Alternate names RNA-binding protein 43,
Gene location 2q23.3 (151261874: 151247688)     Exons: 5     NC_000002.12

Protein Summary
Protein general information Q6ZSC3  

Name: RNA binding protein 43 (RNA binding motif protein 43)

Length: 357  Mass: 40,666

Sequence MASVLNVKESKAPERTVVVAGLPVDLFSDQLLAVLVKSHFQDIKNEGGDVEDVIYPTRTKGVAYVIFKEKKVAEN
VIRQKKHWLARKTRHAELTVSLRVSHFGDKIFSSVNAILDLSVFGKEVTLETLVKDLKKKIPSLSFSPLKPNGRI
SVEGSFLAVKRLRESLLARACSLLEKDRNFTSEERKWNRQNPQRNLQRSNNSLASVRTLVPETARSGEMLVLDTD
VFLYLKHKCGSYESTLKKFHILSQEKVDGEITTICLKSIQVGSQPNNAKHVKELIEEWSHALYLKLRKETFILEG
KENREKRMIKRACEQLSSRYLEVLINLYRTHIDIIGSSSDTYLFKKGVMKLIGQKVS
Structural information
Protein Domains
 RRM. (15-104)
Interpro:  IPR034463 IPR000504
Prosite:   PS50102
STRING:   ENSP00000331211;
Other Databases GeneCards:  RBM43;  Malacards:  RBM43

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000166 nucleotide binding
 IEA molecular_function
GO:0003723 RNA binding
 IEA molecular_function
GO:0000166 nucleotide binding
 IEA molecular_function
GO:0003676 nucleic acid binding
 IEA molecular_function
GO:0003723 RNA binding
 IEA molecular_function

Diseases

Associated diseases References
Endometriosis PMID: 23472165
Endometriosis INFBASE23472165

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
23472165 Endometrio
sis
 LINC00339-WNT4 (rs2235529), RND3-RBM43 (rs1519761, rs6757804) Europea
n
 16490 (2,019 su
rgically confir
med endometrios
is cases, 14,47
1 controls)
 Female infertility LINC00339-WNT4
RND3-RBM43
 Show abstract