CFC1B cryptic, EGF-CFC family member 1B [Homo sapiens (human)] - Gene

Summary

Official Symbol: CFC1Bprovided by HGNC
Official Full Name: cryptic, EGF-CFC family member 1Bprovided by HGNC
Primary source: HGNC:HGNC:33983
See related: Ensembl:ENSG00000152093 AllianceGenome:HGNC:33983
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Predicted to enable activin receptor binding activity and nodal binding activity. Predicted to be involved in circulatory system development; nodal signaling pathway; and regionalization. Predicted to act upstream of or within several processes, including heart development; left lung morphogenesis; and spleen development. Predicted to be active in cell surface and extracellular region. Implicated in tetralogy of Fallot and visceral heterotaxy. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in stomach (RPKM 4.2), prostate (RPKM 2.9) and 2 other tissues See more
Orthologs: all
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Genomic context

Location:: 2q21.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (130521222..130528603)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (130955059..130962469)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (131278795..131286176)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

G65628 (e-PCR)
- UniSTS:225565

NoName (e-PCR)
- UniSTS:482010

NoName (e-PCR)
- UniSTS:481505

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables activin receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables nodal binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in anterior/posterior pattern specification	IBA Inferred from Biological aspect of Ancestor more info
involved_in blood vessel development	IBA Inferred from Biological aspect of Ancestor more info
involved_in determination of left/right symmetry	IBA Inferred from Biological aspect of Ancestor more info
involved_in gastrulation	IEA Inferred from Electronic Annotation more info
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info
involved_in nodal signaling pathway	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extracellular region	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: cryptic family protein 1B

Names: cripto, FRL-1, cryptic family 1B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001079530.2 → NP_001072998.1 cryptic family protein 1B precursor

See identical proteins and their annotated locations for NP_001072998.1

Status: VALIDATED

Source sequence(s)

AC013269, BM716751, BQ777283, BU784123

Consensus CDS

CCDS33286.1

UniProtKB/Swiss-Prot

B2RCY0, B9EJD3, P0CG36, Q53T05, Q9GZR3

UniProtKB/TrEMBL

A8K229

Related

ENSP00000281882.3, ENST00000281882.8

Conserved Domains (2) summary

cd00054
Location:91 → 115

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam09443
Location:123 → 157

CFC; Cripto_Frl-1_Cryptic (CFC)