Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 653275
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol CFC1B   Gene   UCSC   Ensembl
Gene name cripto, FRL-1, cryptic family 1B
Alternate names cryptic family protein 1B,
Gene location 2q21.1 (190062728: 190055699)     Exons: 3     NC_000002.12
OMIM 0

Protein Summary
Protein general information P0CG36  

Name: Cryptic family protein 1B

Length: 223  Mass: 24,642

Sequence MTWRHHVRLLFTVSLALQIINLGNSYQREKHNGGREEVTKVATQKHRQSPLNWTSSHFGEVTGSAEGWGPEEPLP
YSWAFGEGASARPRCCRNGGTCVLGSFCVCPAHFTGRYCEHDQRRSECGALEHGAWTLRACHLCRCIFGALHCLP
LQTPDRCDPKDFLASHAHGPSAGGAPSLLLLLPCALLHRLLRPDAPAHPRSLVPSVLQRERRPCGRPGLGHRL
Structural information
Protein Domains
 EGF-like. (86-115)
Interpro:  IPR019011 IPR013032 IPR000742
Prosite:   PS00022 PS50026

Pfam:  		 PF09443
STRING:   ENSP00000281882;
Other Databases GeneCards:  CFC1B;  Malacards:  CFC1B

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005576 extracellular region
 IEA cellular_component
GO:0007369 gastrulation
 IEA biological_process
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 IEA cellular_component
GO:0007275 multicellular organism de
velopment
 IEA biological_process
GO:0007369 gastrulation
 IEA biological_process

Diseases

Associated diseases References
Endometriosis INFBASE21496809

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
21496809 Endometrio
sis
96 (48 women wi
th endometrioma
, 48 women with
out endometrios
is)
 activin A
cripto
follistatin
 Show abstract