Aliases for CFC1B Gene

Aliases for CFC1B Gene

  • Cripto, FRL-1, Cryptic Family 1B 2 3 5
  • Cryptic Family Protein 1B 3 4
  • CFC1B 5

External Ids for CFC1B Gene

Previous GeneCards Identifiers for CFC1B Gene

  • GC02P130997
  • GC02P131278

Summaries for CFC1B Gene

GeneCards Summary for CFC1B Gene

CFC1B (Cripto, FRL-1, Cryptic Family 1B) is a Protein Coding gene. Diseases associated with CFC1B include Methylmalonic Acidemia And Homocysteinemia, Cblx Type and Ohdo Syndrome, Sbbys Variant. An important paralog of this gene is CFC1.

Gene Wiki entry for CFC1B Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CFC1B Gene

Genomics for CFC1B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CFC1B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J130521 Promoter/Enhancer 0.5 EPDnew dbSUPER 250.7 +0.0 6 0.1 CFC1B ENSG00000225819 CFC1
GH02J130520 Enhancer 0.3 Ensembl dbSUPER 250.7 -0.3 -296 0.2 CFC1B piR-36631-001 ENSG00000225819 POTEI
GH02J130518 Enhancer 0.3 Ensembl dbSUPER 0.7 -2.4 -2396 1.6 ENSG00000274711 piR-36631-001 piR-33922-001 CFC1B ENSG00000225819 POTEI
GH02J130529 Enhancer 0.3 Ensembl dbSUPER 0.4 +8.8 8804 0.8 ENSG00000225341 FAR2P1 ENSG00000225819 CFC1B CFC1
GH02J130526 Enhancer 0.3 Ensembl dbSUPER 0.4 +6.5 6504 0.2 ENSG00000225819 ENSG00000225341 CFC1B CFC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFC1B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CFC1B

Top Transcription factor binding sites by QIAGEN in the CFC1B gene promoter:
  • AML1a
  • C/EBPalpha
  • Evi-1
  • GATA-6
  • Nkx2-2
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a

Genomic Locations for CFC1B Gene

Latest Assembly
chr2:130,521,197-130,528,604
(GRCh38/hg38)
Size:
7,408 bases
Orientation:
Plus strand

Previous Assembly
chr2:131,278,795-131,286,176
(GRCh37/hg19 by Entrez Gene)
Size:
7,382 bases
Orientation:
Plus strand

chr2:131,278,770-131,285,579
(GRCh37/hg19 by Ensembl)
Size:
6,810 bases
Orientation:
Plus strand

Genomic View for CFC1B Gene

Genes around CFC1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFC1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFC1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFC1B Gene

Proteins for CFC1B Gene

  • Protein details for CFC1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0CG36-CFC1B_HUMAN
    Recommended name:
    Cryptic family protein 1B
    Protein Accession:
    P0CG36
    Secondary Accessions:
    • B2RCY0
    • B9EJD3
    • Q53T05
    • Q9GZR3

    Protein attributes for CFC1B Gene

    Size:
    223 amino acids
    Molecular mass:
    24642 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CFC1B Gene

Post-translational modifications for CFC1B Gene

  • Glycosylation at Asn52

Other Protein References for CFC1B Gene

No data available for DME Specific Peptides for CFC1B Gene

Domains & Families for CFC1B Gene

Gene Families for CFC1B Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for CFC1B Gene

Suggested Antigen Peptide Sequences for CFC1B Gene

GenScript: Design optimal peptide antigens:
  • Cryptic family protein 1B (CFC1B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P0CG36

UniProtKB/Swiss-Prot:

CFC1B_HUMAN :
  • Belongs to the EGF-CFC (Cripto-1/FRL1/Cryptic) family.
Family:
  • Belongs to the EGF-CFC (Cripto-1/FRL1/Cryptic) family.
genes like me logo Genes that share domains with CFC1B: view

Function for CFC1B Gene

Gene Ontology (GO) - Molecular Function for CFC1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IBA 21873635
GO:0038100 nodal binding IBA 21873635
GO:0070697 activin receptor binding IBA 21873635
genes like me logo Genes that share ontologies with CFC1B: view
genes like me logo Genes that share phenotypes with CFC1B: view

Animal Models for CFC1B Gene

MGI Knock Outs for CFC1B:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFC1B

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CFC1B Gene

Localization for CFC1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFC1B Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CFC1B gene
Compartment Confidence
extracellular 4
cytosol 1
mitochondrion 0

Gene Ontology (GO) - Cellular Components for CFC1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IBA 21873635
GO:0009986 cell surface IBA 21873635
genes like me logo Genes that share ontologies with CFC1B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CFC1B Gene

Pathways & Interactions for CFC1B Gene

PathCards logo

SuperPathways for CFC1B Gene

No Data Available

Gene Ontology (GO) - Biological Process for CFC1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001568 blood vessel development IBA 21873635
GO:0007275 multicellular organism development IEA --
GO:0007368 determination of left/right symmetry IBA 21873635
GO:0007369 gastrulation IEA --
GO:0007507 heart development IBA 21873635
genes like me logo Genes that share ontologies with CFC1B: view

No data available for Pathways by source and SIGNOR curated interactions for CFC1B Gene

Drugs & Compounds for CFC1B Gene

No Compound Related Data Available

Transcripts for CFC1B Gene

mRNA/cDNA for CFC1B Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFC1B

Alternative Splicing Database (ASD) splice patterns (SP) for CFC1B Gene

No ASD Table

Relevant External Links for CFC1B Gene

GeneLoc Exon Structure for
CFC1B

Expression for CFC1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CFC1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CFC1B Gene

This gene is overexpressed in Pituitary (x28.1), Brain - Hypothalamus (x14.1), and Pancreas (x4.4).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CFC1B

SOURCE GeneReport for Unigene cluster for CFC1B Gene:

Hs.503733

Evidence on tissue expression from TISSUES for CFC1B Gene

  • Lung(4.2)
  • Pancreas(3.5)
genes like me logo Genes that share expression patterns with CFC1B: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CFC1B Gene

Orthologs for CFC1B Gene

This gene was present in the common ancestor of chordates.

Orthologs for CFC1B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia -- 30
  • 99 (a)
OneToMany
CFC1 29
  • 98.95 (n)
Dog
(Canis familiaris)
Mammalia LOC609557 29
  • 78.59 (n)
-- 30
  • 48 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Cfc1 29 16 30
  • 65.5 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Cfc1 29
  • 64.65 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 37 (a)
OneToMany
Chicken
(Gallus gallus)
Aves CFC1B 29
  • 51.43 (n)
CFC1 30
  • 34 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 31 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii oep 30
  • 29 (a)
OneToMany
Species where no ortholog for CFC1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CFC1B Gene

ENSEMBL:
Gene Tree for CFC1B (if available)
TreeFam:
Gene Tree for CFC1B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CFC1B: view image
Alliance of Genome Resources:
Additional Orthologs for CFC1B

Paralogs for CFC1B Gene

Paralogs for CFC1B Gene

(1) SIMAP similar genes for CFC1B Gene using alignment to 1 proteins:

  • CFC1B_HUMAN
genes like me logo Genes that share paralogs with CFC1B: view

Variants for CFC1B Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CFC1B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CFC1B Gene

Variant ID Type Subtype PubMed ID
dgv2032n106 OTHER inversion 24896259
dgv2035n106 CNV duplication 24896259
dgv4074n100 CNV gain 25217958
esv2759092 CNV gain+loss 17122850
esv3592455 CNV loss 21293372
nsv1005664 CNV loss 25217958
nsv1072451 CNV deletion 25765185
nsv1147463 OTHER inversion 26484159
nsv1148026 CNV duplication 26484159
nsv428403 CNV loss 18775914
nsv583134 CNV loss 21841781
nsv7327 OTHER inversion 18451855
nsv953164 CNV deletion 24416366
nsv961509 CNV duplication 23825009

Variation tolerance for CFC1B Gene

Gene Damage Index Score: 1.87; 34.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CFC1B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFC1B
Leiden Open Variation Database (LOVD)
CFC1B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CFC1B Gene

Disorders for CFC1B Gene

MalaCards: The human disease database

(4) MalaCards diseases for CFC1B Gene - From: COP

Disorder Aliases PubMed IDs
methylmalonic acidemia and homocysteinemia, cblx type
  • mental retardation, x-linked 3; mrx3
ohdo syndrome, sbbys variant
  • sbbyss
ellis-van creveld syndrome
  • evc
tetralogy of fallot
  • tof
- elite association - COSMIC cancer census association via MalaCards
Search CFC1B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CFC1B

genes like me logo Genes that share disorders with CFC1B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CFC1B Gene

Publications for CFC1B Gene

  1. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 4
  3. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo MF … Soares MB (Genome research 1996) 3

Products for CFC1B Gene

Sources for CFC1B Gene