Homo sapiens Gene: CFC1B | |||||||
---|---|---|---|---|---|---|---|
Summary | |||||||
InnateDB Gene | IDBG-69888.5 | ||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||
Gene Symbol | CFC1B | ||||||
Gene Name | cripto, FRL-1, cryptic family 1B | ||||||
Synonyms | |||||||
Species | Homo sapiens | ||||||
Ensembl Gene | ENSG00000152093 | ||||||
Encoded Proteins |
cripto, FRL-1, cryptic family 1B
cripto, FRL-1, cryptic family 1B
cripto, FRL-1, cryptic family 1B
|
||||||
Protein Structure | |||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||
Entrez Gene | |||||||
Summary |
This gene encodes a member of the epidermal growth factor (EGF)- Cripto, Frl-1, and Cryptic (CFC) family, which are involved in signalling during embryonic development. Proteins in this family share a variant EGF-like motif, a conserved cysteine-rich domain, and a C-terminal hydrophobic region. The protein encoded by this gene is necessary for patterning the left-right embryonic axis. Mutations in this gene are associated with defects in organ development, including autosomal visceral heterotaxy and congenital heart disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] |
||||||
Gene Information | |||||||
Type | Protein coding | ||||||
Genomic Location | Chromosome 2:130521197-130528604 | ||||||
Strand | Forward strand | ||||||
Band | q21.1 | ||||||
Transcripts |
|
||||||
Interactions | |||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
|
||||||
Gene Ontology | |||||||
Molecular Function |
|
||||||
Biological Process |
|
||||||
Cellular Component |
|
||||||
Orthologs | |||||||
No orthologs found for this gene | |||||||
Cross-References | |||||||
SwissProt | |||||||
TrEMBL | |||||||
UniProt Splice Variant | |||||||
Entrez Gene | |||||||
UniGene | Hs.503733 Hs.567542 | ||||||
RefSeq | NM_001079530 XM_005263737 XM_005263738 | ||||||
HUGO | |||||||
OMIM | |||||||
CCDS | CCDS33286 | ||||||
HPRD | |||||||
IMGT | |||||||
EMBL | |||||||
GenPept | |||||||
RNA Seq Atlas | |||||||