CFC1 cryptic, EGF-CFC family member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CFC1provided by HGNC
Official Full Name: cryptic, EGF-CFC family member 1provided by HGNC
Primary source: HGNC:HGNC:18292
See related: Ensembl:ENSG00000136698 MIM:605194; AllianceGenome:HGNC:18292
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HTX2; CFC1B; DTGA2; CRYPTIC
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]
Expression: Biased expression in stomach (RPKM 2.7), prostate (RPKM 2.2) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q21.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (130592165..130599575, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (131026073..131033483, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (131349738..131357148, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The knockdown and overexpression of CFC1 were performed using a lentiviral system in NB cell lines. The overexpression of CFC1 increased sphere formation, cell growth, and colony formation.
Title: CFC1 is a cancer stemness-regulating factor in neuroblastoma.
Results demonstrated that over expression of Snail suppresses Cryptic expression and confirmed that Snail directly binds to Cryptic gene promoter and regulates its expression.
Title: Left-right axis asymmetry determining human Cryptic gene is transcriptionally repressed by Snail.
enhances macrophage phagocytic activity and upregulates the production of anti- and pro-inflammatory cytokines via the NF-kappaB signaling pathway
Title: Cripto-1 modulates macrophage cytokine secretion and phagocytic activity via NF-κB signaling.
Data indicate that the duplication and deletion of CFC1 protein may play key roles in the occurrence of heterotaxy syndrome.
Title: Duplication and deletion of CFC1 associated with heterotaxy syndrome.
CFC1 may be involved in the etiology of non-syndromic congenital heart disease in a Chinese population.
Title: CFC1 mutations in Chinese children with congenital heart disease.
Characterization of the glycosylphosphatidylinositol-anchor signal sequence of human Cryptic with a hydrophilic extension is reported.
Title: Characterization of the glycosylphosphatidylinositol-anchor signal sequence of human Cryptic with a hydrophilic extension.
Observational study of gene-disease association. (HuGE Navigator)
Title: Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
results suggest that heterozygous cryptic family 1 (CFC1) mutation may represent a genetic predisposition to biliary atresia splenic malformation syndrome
Title: CFC1 gene involvement in biliary atresia with polysplenia syndrome.
CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle
Title: CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Heterotaxy, visceral, 2, autosomal MedGen: C1415817 OMIM: 605376 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2021-09-22) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2021-09-22) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G65628 (e-PCR)
- UniSTS:225565

NoName (e-PCR)
- UniSTS:486778

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
enables nodal binding	IPI Inferred from Physical Interaction 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 determination of left/right symmetry	NAS Non-traceable Author Statement more info	PubMed
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
involved_in nodal signaling pathway	IMP Inferred from Mutant Phenotype 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
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in side of membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cryptic protein

Names: cripto, FRL-1, cryptic family 1; cryptic family protein 1; heterotaxy 2 (autosomal dominant)

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.

Genomic

NG_008148.1 RefSeqGene

Range

4935..12345

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001270420.2 → NP_001257349.1 cryptic protein isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

AK315326, BI793242, BM310214, CA941621, CA948246

Consensus CDS

CCDS74574.1

UniProtKB/TrEMBL

A0A087WWV2, A0A087X0G3

Related

ENSP00000480526.1, ENST00000615342.4
NM_001270421.2 → NP_001257350.1 cryptic protein isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AK315326, BI793242, CA777249, CA948246

Consensus CDS

CCDS74573.1

UniProtKB/TrEMBL

A0A087WWE4, A0A087WX98

Related

ENSP00000480843.1, ENST00000621673.4
NM_032545.4 → NP_115934.1 cryptic protein isoform 1 precursor

See identical proteins and their annotated locations for NP_115934.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).

Source sequence(s)

AF312769, AK315326, BI793242, CA948246

Consensus CDS

CCDS2162.1

UniProtKB/Swiss-Prot

P0CG37

UniProtKB/TrEMBL

A8K229

Related

ENSP00000259216.5, ENST00000259216.6

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)