Aliases for CFDP1 Gene

Aliases for CFDP1 Gene

  • Craniofacial Development Protein 1 2 3 4 5
  • CENP-29 2 3 4
  • BCNT 2 3 4
  • Centromere Protein 29 2 3
  • Bucentaur 2 4
  • CP27 2 3
  • SWC5 2 3
  • Yeti 2 3
  • P97 2 3
  • Phosphoprotein (Bucentaur) 3
  • CFDP1 5

External Ids for CFDP1 Gene

Previous GeneCards Identifiers for CFDP1 Gene

  • GC16M066257
  • GC16M076288
  • GC16M075066
  • GC16M075107
  • GC16M073885
  • GC16M075327
  • GC16M061078

Summaries for CFDP1 Gene

GeneCards Summary for CFDP1 Gene

CFDP1 (Craniofacial Development Protein 1) is a Protein Coding gene. Diseases associated with CFDP1 include Inflammatory Bowel Disease 1.

UniProtKB/Swiss-Prot Summary for CFDP1 Gene

Gene Wiki entry for CFDP1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CFDP1 Gene

Genomics for CFDP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CFDP1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J075432 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 277.9 -0.2 -198 3 ZSCAN16 CHD2 TBP ZBTB10 MXD4 CEBPA SIX5 NR2C1 MNT IKZF1 CFDP1 ENSG00000274220 ENSG00000261783 RFWD3 ADAT1 WDR59 TERF2IP GLG1 TMEM231 L13712-006
GH16J075414 Promoter 0.4 EPDnew 250.4 +18.8 18789 0.1 PRDM1 CFDP1 HSALNG0112740 L13712-006 ENSG00000261717 BCAR1
GH16J075431 Promoter 0.3 Ensembl 250.7 +1.6 1602 0.2 CFDP1 ENSG00000274220 ENSG00000261783 L13712-006 ENSG00000261717 BCAR1
GH16J075461 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 17.3 -30.1 -30117 3.5 TBP ZBTB10 SP1 CEBPA NR2C1 MNT DEK IKZF1 SMAD5 ETS1 ENSG00000261717 TMEM170A ENSG00000261783 CFDP1 GABARAPL2 RFWD3 BCAR1 ENSG00000261476 L13712-006
GH16J075303 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 13.3 +125.9 125850 8.3 CHD2 MXD4 FEZF1 CEBPA MNT DEK IKZF1 ZFP64 ZNF217 BRCA1 ENSG00000261783 ADAT1 PDPR2P BCAR1 RFWD3 ENSG00000261079 CFDP1 NPIPB15 RNU6-758P ENSG00000259972
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFDP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CFDP1

Top Transcription factor binding sites by QIAGEN in the CFDP1 gene promoter:
  • AML1a
  • Chx10
  • COMP1
  • En-1
  • FOXF2
  • FOXO3
  • FOXO3a
  • FOXO3b
  • IRF-7A
  • LCR-F1

Genomic Locations for CFDP1 Gene

Latest Assembly
139,806 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
139,794 bases
Minus strand

(GRCh37/hg19 by Ensembl)
139,788 bases
Minus strand

Genomic View for CFDP1 Gene

Genes around CFDP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFDP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFDP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFDP1 Gene

Proteins for CFDP1 Gene

  • Protein details for CFDP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Craniofacial development protein 1
    Protein Accession:
    Secondary Accessions:
    • O00393
    • O00404
    • Q9UEF0
    • Q9UEF1
    • Q9UEF8

    Protein attributes for CFDP1 Gene

    299 amino acids
    Molecular mass:
    33593 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CFDP1 Gene


neXtProt entry for CFDP1 Gene

Post-translational modifications for CFDP1 Gene

  • Phosphorylated by CK2 (casein kinase II) in vitro.
  • Ubiquitination at Lys167 and Lys245
  • Modification sites at PhosphoSitePlus

Other Protein References for CFDP1 Gene

No data available for DME Specific Peptides for CFDP1 Gene

Domains & Families for CFDP1 Gene

Gene Families for CFDP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CFDP1 Gene


Suggested Antigen Peptide Sequences for CFDP1 Gene

GenScript: Design optimal peptide antigens:
  • Bucentaur (CFDP1_HUMAN)
genes like me logo Genes that share domains with CFDP1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CFDP1 Gene

Function for CFDP1 Gene

Molecular function for CFDP1 Gene

UniProtKB/Swiss-Prot Function:
May play a role during embryogenesis.
GENATLAS Biochemistry:
craniofacial development protein 1,predominantly expressed in brain and moderatly in heart,liver and lung,teeth,salivary gland and periosteum of developing bones,homolog to mouse Cp27 and bovine BCNT

Phenotypes From GWAS Catalog for CFDP1 Gene

Gene Ontology (GO) - Molecular Function for CFDP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with CFDP1: view
genes like me logo Genes that share phenotypes with CFDP1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFDP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CFDP1 Gene

Localization for CFDP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFDP1 Gene

Chromosome, centromere, kinetochore.

Subcellular locations from

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 CFDP1 gene
Compartment Confidence
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CFDP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 kinetochore IEA --
GO:0000777 condensed chromosome kinetochore IEA --
GO:0005575 cellular_component ND --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with CFDP1: view

Pathways & Interactions for CFDP1 Gene

PathCards logo

SuperPathways for CFDP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CFDP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007275 multicellular organism development IEA --
GO:0008150 biological_process ND --
GO:0008360 regulation of cell shape IEA --
GO:0042127 regulation of cell proliferation IEA --
genes like me logo Genes that share ontologies with CFDP1: view

No data available for Pathways by source and SIGNOR curated interactions for CFDP1 Gene

Drugs & Compounds for CFDP1 Gene

No Compound Related Data Available

Transcripts for CFDP1 Gene

mRNA/cDNA for CFDP1 Gene

15 NCBI additional mRNA sequence :
11 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 CFDP1

Alternative Splicing Database (ASD) splice patterns (SP) for CFDP1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c
SP1: - - - - -
SP2: -
SP5: -
SP6: - -

Relevant External Links for CFDP1 Gene

GeneLoc Exon Structure for

Expression for CFDP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CFDP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CFDP1 Gene

This gene is overexpressed in Lung (15.2), Fetal Brain (14.0), and Peripheral blood mononuclear cells (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CFDP1 Gene

Protein tissue co-expression partners for CFDP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CFDP1

SOURCE GeneReport for Unigene cluster for CFDP1 Gene:


mRNA Expression by UniProt/SwissProt for CFDP1 Gene:

Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for CFDP1 Gene

  • Nervous system(4.5)
  • Heart(2.4)
  • Liver(2.4)
  • Muscle(2.3)
  • Skin(2.3)
  • Lung(2.3)
  • Intestine(2.2)
  • Spleen(2.2)
  • Kidney(2.1)
  • Adrenal gland(2.1)
genes like me logo Genes that share expression patterns with CFDP1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CFDP1 Gene

Orthologs for CFDP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CFDP1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CFDP1 30 31
  • 99.78 (n)
(Canis familiaris)
Mammalia P97 31
  • 94 (a)
CFDP1 30
  • 91.86 (n)
(Bos Taurus)
Mammalia CFDP1 30 31
  • 89.23 (n)
(Rattus norvegicus)
Mammalia Cfdp1 30
  • 84.63 (n)
(Mus musculus)
Mammalia Cfdp1 30 17 31
  • 83.39 (n)
(Monodelphis domestica)
Mammalia CFDP1 31
  • 72 (a)
(Ornithorhynchus anatinus)
Mammalia CFDP1 31
  • 46 (a)
(Gallus gallus)
Aves CFDP1 30 31
  • 64.41 (n)
(Anolis carolinensis)
Reptilia CFDP1 31
  • 55 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cfdp1 30
  • 61.02 (n)
Str.10816 30
(Danio rerio)
Actinopterygii rltpr 30 31
  • 58.02 (n)
Dr.29384 30
Fruit Fly
(Drosophila melanogaster)
Insecta Yeti 31
  • 30 (a)
(Caenorhabditis elegans)
Secernentea F39H11.1 31
  • 26 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SWC5 31
  • 21 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7012 31
  • 39 (a)
Species where no ortholog for CFDP1 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)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • 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)
  • 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 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)
  • Wheat (Triticum aestivum)

Evolution for CFDP1 Gene

Gene Tree for CFDP1 (if available)
Gene Tree for CFDP1 (if available)
Evolutionary constrained regions (ECRs) for CFDP1: view image

Paralogs for CFDP1 Gene

No data available for Paralogs for CFDP1 Gene

Variants for CFDP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CFDP1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs16963331 - p.Ala60Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CFDP1 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 CFDP1 Gene

Variant ID Type Subtype PubMed ID
dgv163e215 CNV deletion 23714750
dgv490n67 CNV gain+loss 20364138
esv2422358 CNV duplication 17116639
esv2658846 CNV deletion 23128226
esv2664082 CNV deletion 23128226
esv2675348 CNV deletion 23128226
esv2714708 CNV deletion 23290073
esv2758657 CNV gain 17122850
esv2762265 CNV loss 21179565
esv32560 CNV loss 17666407
esv3582321 CNV loss 25503493
esv3639088 CNV loss 21293372
esv3639089 CNV loss 21293372
esv3639090 CNV loss 21293372
esv3639091 CNV loss 21293372
esv991799 CNV gain 20482838
nsv103341 CNV deletion 16902084
nsv1062023 CNV loss 25217958
nsv1063718 CNV gain 25217958
nsv1065995 CNV loss 25217958
nsv1070774 CNV deletion 25765185
nsv1116160 CNV deletion 24896259
nsv1121917 CNV deletion 24896259
nsv1879 CNV insertion 18451855
nsv1880 CNV insertion 18451855
nsv478253 CNV novel sequence insertion 20440878
nsv512445 CNV loss 21212237
nsv516019 CNV loss 19592680
nsv521596 CNV loss 19592680
nsv523405 CNV loss 19592680
nsv525232 CNV gain 19592680
nsv525466 CNV loss 19592680
nsv820364 CNV deletion 20802225
nsv827744 CNV gain 20364138
nsv827747 CNV loss 20364138
nsv833282 CNV gain+loss 17160897
nsv833283 CNV loss 17160897

Variation tolerance for CFDP1 Gene

Residual Variation Intolerance Score: 66.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.30; 25.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CFDP1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFDP1 Gene

Disorders for CFDP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CFDP1 Gene - From: COP

Disorder Aliases PubMed IDs
inflammatory bowel disease 1
  • ibd1
- elite association - COSMIC cancer census association via MalaCards
Search CFDP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CFDP1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CFDP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CFDP1 Gene

Publications for CFDP1 Gene

  1. Existence of a bovine LINE repetitive insert that appears in the cDNA of bovine protein BCNT in ruminant, but not in human, genomes. (PMID: 9602175) Takahashi I … Iwashita S (Gene 1998) 2 3 4 23
  2. An Alu-linked repetitive sequence corresponding to 280 amino acids is expressed in a novel bovine protein, but not in its human homologue. (PMID: 9006920) Nobukuni T … Iwashita S (The Journal of biological chemistry 1997) 2 3 4
  3. The human Cranio Facial Development Protein 1 (Cfdp1) gene encodes a protein required for the maintenance of higher-order chromatin organization. (PMID: 28367969) Messina G … Dimitri P (Scientific reports 2017) 2 3
  4. Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. (PMID: 21946350) Soler Artigas M … Tobin MD (Nature genetics 2011) 3 41
  5. Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects. (PMID: 19844255) Dastani Z … Genest J (European journal of human genetics : EJHG 2010) 3 41

Products for CFDP1 Gene

Sources for CFDP1 Gene