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Aliases for OFCC1 Gene

Aliases for OFCC1 Gene

  • Orofacial Cleft 1 Candidate 1 2 3 5
  • Orofacial Clefting Chromosomal Breakpoint Region Candidate 1 Protein 3 4
  • MRDS1 3 4
  • Orofacial Cleft 1 Candidate Gene 1 Protein 3

External Ids for OFCC1 Gene

Previous GeneCards Identifiers for OFCC1 Gene

  • GC06M009768
  • GC06M009813
  • GC06M009815

Summaries for OFCC1 Gene

GeneCards Summary for OFCC1 Gene

OFCC1 (Orofacial Cleft 1 Candidate 1) is a Protein Coding gene. Diseases associated with OFCC1 include Orofacial Cleft and Tic Disorder.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OFCC1 Gene

Genomics for OFCC1 Gene

Regulatory Elements for OFCC1 Gene

Enhancers for OFCC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F010237 0.7 ENCODE 11.7 -26.0 -26043 0.6 MXI1 TAF1 JUN MAX ZMYM3 RAD21 FOSL1 SMC3 RCOR1 FOS OFCC1 GC06M010217 RNU6ATAC21P
GH06F010201 0.6 ENCODE 0.4 +9.2 9183 1.4 RFX1 EP300 CTBP1 GATA3 ZNF316 RCOR1 FOS NFE2 NFE2L2 SYCP2L OFCC1 LOC105374918
GH06F010146 0.9 Ensembl 0.2 +64.2 64231 0.8 ARNT CREB3L1 ZNF76 DEAF1 ZBTB40 ETS1 ZNF335 ZNF766 GATA2 ZNF143 TMEM14C LOC105374918 OFCC1
GH06F010162 0.9 Ensembl ENCODE 0.2 +48.0 47991 2.4 STAT1 PKNOX1 NR4A1 ZHX2 DPF2 ZNF217 TFDP1 JUND CTBP1 FOXJ2 LOC105374918 OFCC1
GH06F010175 0.4 ENCODE 0.3 +36.0 36036 0.1 CEBPB EP300 LOC105374918 OFCC1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around OFCC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for OFCC1 Gene

9,596,110 bp from pter
10,211,608 bp from pter
615,499 bases
Minus strand

Genomic View for OFCC1 Gene

Genes around OFCC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OFCC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OFCC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OFCC1 Gene

Proteins for OFCC1 Gene

  • Protein details for OFCC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Orofacial cleft 1 candidate gene 1 protein
    Protein Accession:
    Secondary Accessions:
    • Q7Z2X5
    • Q8IUL6
    • Q8IUM1
    • Q8IZR9
    • Q8IZS1
    • Q8IZS3

    Protein attributes for OFCC1 Gene

    231 amino acids
    Molecular mass:
    26754 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for OFCC1 Gene


neXtProt entry for OFCC1 Gene

Post-translational modifications for OFCC1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for OFCC1 Gene

Domains & Families for OFCC1 Gene

Protein Domains for OFCC1 Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with OFCC1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for OFCC1 Gene

Function for OFCC1 Gene

Gene Ontology (GO) - Molecular Function for OFCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23455924
genes like me logo Genes that share ontologies with OFCC1: view
genes like me logo Genes that share phenotypes with OFCC1: view

Animal Models for OFCC1 Gene

MGI Knock Outs for OFCC1:

Animal Model Products

miRNA for OFCC1 Gene

miRTarBase miRNAs that target OFCC1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for OFCC1 Gene

Localization for OFCC1 Gene

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 OFCC1 gene
Compartment Confidence
plasma membrane 3
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for OFCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with OFCC1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for OFCC1 Gene

Pathways & Interactions for OFCC1 Gene

SuperPathways for OFCC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for OFCC1 Gene


No data available for Pathways by source and SIGNOR curated interactions for OFCC1 Gene

Transcripts for OFCC1 Gene

mRNA/cDNA for OFCC1 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for OFCC1 Gene

No ASD Table

Relevant External Links for OFCC1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for OFCC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OFCC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for OFCC1 Gene

This gene is overexpressed in Testis (x32.3).

Protein differential expression in normal tissues from HIPED for OFCC1 Gene

This gene is overexpressed in Nasal epithelium (63.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for OFCC1 Gene

Protein tissue co-expression partners for OFCC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of OFCC1 Gene:


SOURCE GeneReport for Unigene cluster for OFCC1 Gene:

genes like me logo Genes that share expression patterns with OFCC1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for OFCC1 Gene

Orthologs for OFCC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for OFCC1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia OFCC1 34 35
  • 99.09 (n)
(Bos Taurus)
Mammalia OFCC1 34 35
  • 83.59 (n)
(Canis familiaris)
Mammalia LOC609660 34
  • 79.98 (n)
OFCC1 35
  • 25 (a)
(Mus musculus)
Mammalia Ofcc1 34 16 35
  • 77.48 (n)
(Monodelphis domestica)
Mammalia OFCC1 35
  • 58 (a)
(Ornithorhynchus anatinus)
Mammalia OFCC1 35
  • 46 (a)
(Gallus gallus)
Aves LOC100859006 34
  • 89.28 (n)
OFCC1 35
  • 46 (a)
(Anolis carolinensis)
Reptilia -- 35
  • 44 (a)
-- 35
  • 11 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101732008 34
  • 62.73 (n)
(Danio rerio)
Actinopterygii LOC101883978 34
  • 55.88 (n)
OFCC1 (1 of 2) 35
  • 9 (a)
OFCC1 (2 of 2) 35
  • 4 (a)
Species where no ortholog for OFCC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for OFCC1 Gene

Gene Tree for OFCC1 (if available)
Gene Tree for OFCC1 (if available)

Paralogs for OFCC1 Gene

(1) SIMAP similar genes for OFCC1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with OFCC1: view

No data available for Paralogs for OFCC1 Gene

Variants for OFCC1 Gene

Sequence variations from dbSNP and Humsavar for OFCC1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1003790 -- 9,842,928(+) TCACT(G/T)GCTTC upstream-variant-2KB
rs1003962 -- 9,841,716(+) CAACA(C/T)GTGAA intron-variant
rs1003963 -- 9,841,803(+) TTAAA(C/T)GCCTC intron-variant
rs1004894 -- 9,788,293(+) ccaaa(C/T)actgc intron-variant
rs10223573 -- 9,825,397(+) GGGCA(C/T)AATTC intron-variant

Variation tolerance for OFCC1 Gene

Gene Damage Index Score: 8.27; 85.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OFCC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for OFCC1 Gene

Disorders for OFCC1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for OFCC1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
orofacial cleft
tic disorder
chronic tic disorder
  • chronic motor or vocal tic disorder
- elite association - COSMIC cancer census association via MalaCards
Search OFCC1 in MalaCards View complete list of genes associated with diseases


  • Note=A chromosomal aberration involving OFCC1 is found in patients with orofacial cleft. {ECO:0000269 PubMed:15218257}.

Relevant External Links for OFCC1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with OFCC1: view

No data available for Genatlas for OFCC1 Gene

Publications for OFCC1 Gene

  1. A Y2H-seq approach defines the human protein methyltransferase interactome. (PMID: 23455924) Weimann M. … Stelzl U. (Nat. Methods 2013) 3 4 64
  2. Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. (PMID: 22479202) Dastani Z. … Kathiresan S. (PLoS Genet. 2012) 3 46 64
  3. Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. (PMID: 19367581) So H.C. … Sham P.C. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 46 64
  4. Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region. (PMID: 15218257) Davies S.J. … Ragoussis J. (Cytogenet. Genome Res. 2004) 3 4 64
  5. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3 64

Products for OFCC1 Gene

Sources for OFCC1 Gene

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