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Aliases for C12orf4 Gene

Aliases for C12orf4 Gene

  • Chromosome 12 Open Reading Frame 4 2 3 5

External Ids for C12orf4 Gene

Previous GeneCards Identifiers for C12orf4 Gene

  • GC12M004336
  • GC12M004489
  • GC12M004596

Summaries for C12orf4 Gene

Entrez Gene Summary for C12orf4 Gene

  • This gene is highly conserved from nematodes to humans. In rat, the orthologous gene encodes a cytoplasmic protein that is involved in mast cell degranulation. The human gene has been implicated in autosomal recessive intellectual disability. [provided by RefSeq, Sep 2016]

GeneCards Summary for C12orf4 Gene

C12orf4 (Chromosome 12 Open Reading Frame 4) is a Protein Coding gene. Diseases associated with C12orf4 include Hypophosphatemic Rickets, Autosomal Dominant and Intellectual Disability.

UniProtKB/Swiss-Prot for C12orf4 Gene

  • Plays a role in mast cell degranulation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C12orf4 Gene

Genomics for C12orf4 Gene

Regulatory Elements for C12orf4 Gene

Enhancers for C12orf4 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
GH12F004438 1.3 Ensembl ENCODE 14.4 +97.7 97744 3.9 KLF17 FEZF1 ETV6 EGR2 ZNF362 REST ZEB2 ZNF488 ZNF843 ZNF264 C12orf4 FGF23 RAD51AP1 FGF6
GH12F004571 0.6 Ensembl 11.8 -33.5 -33493 0.4 CREB3L1 GLIS1 HMBOX1 LOC103568124 NDUFA9 C12orf4 RAD51AP1 AKAP3 DYRK4
GH12F004564 0.9 Ensembl ENCODE 11.8 -28.7 -28693 5.2 ZNF146 MTA2 NR2F1 BHLHE40 RAD51 IKZF1 HMBOX1 NBN NR2F6 SPI1 AKAP3 RAD51AP1 C12orf4 LOC103568124 NDUFA9 TIGAR DYRK4
GH12F004587 0.7 ENCODE 11 -48.8 -48822 0.2 CTCF C12orf4 RAD51AP1 DYRK4 GALNT8 LOC101929549 NDUFA9 AKAP3 LOC103568124
GH12F004506 1 Ensembl ENCODE 10.8 +31.3 31292 1.8 SOX13 ELF3 TBL1XR1 SAP130 MLX ZNF644 YY1 EED HNF4G ETV6 FGF6 FGF23 C12orf4 RAD51AP1 TIGAR
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around C12orf4 on UCSC Golden Path with GeneCards custom track

Promoters for C12orf4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for C12orf4 Gene

4,487,728 bp from pter
4,538,508 bp from pter
50,781 bases
Minus strand

Genomic View for C12orf4 Gene

Genes around C12orf4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C12orf4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C12orf4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C12orf4 Gene

Proteins for C12orf4 Gene

  • Protein details for C12orf4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein C12orf4
    Protein Accession:
    Secondary Accessions:
    • D3DUQ8
    • Q6MZH5

    Protein attributes for C12orf4 Gene

    552 amino acids
    Molecular mass:
    63801 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C12orf4 Gene

Post-translational modifications for C12orf4 Gene

  • Ubiquitination at Lys 220
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for C12orf4 Gene

Domains & Families for C12orf4 Gene

Protein Domains for C12orf4 Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C12orf4: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C12orf4 Gene

Function for C12orf4 Gene

Molecular function for C12orf4 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in mast cell degranulation.
genes like me logo Genes that share phenotypes with C12orf4: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C12orf4 Gene

Localization for C12orf4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C12orf4 Gene


Subcellular locations from

Jensen Localization Image for C12orf4 Gene COMPARTMENTS Subcellular localization image for C12orf4 gene
Compartment Confidence
cytosol 2
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for C12orf4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with C12orf4: view

Pathways & Interactions for C12orf4 Gene

SuperPathways for C12orf4 Gene

No Data Available

Interacting Proteins for C12orf4 Gene

Gene Ontology (GO) - Biological Process for C12orf4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043304 regulation of mast cell degranulation ISS --
genes like me logo Genes that share ontologies with C12orf4: view

No data available for Pathways by source and SIGNOR curated interactions for C12orf4 Gene

Transcripts for C12orf4 Gene

Unigene Clusters for C12orf4 Gene

Chromosome 12 open reading frame 4:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C12orf4 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: -

Relevant External Links for C12orf4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C12orf4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C12orf4 Gene

Protein differential expression in normal tissues from HIPED for C12orf4 Gene

This gene is overexpressed in Pancreatic juice (10.6), Placenta (7.5), Fetal Brain (7.5), Peripheral blood mononuclear cells (6.0), and Testis (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for C12orf4 Gene

Protein tissue co-expression partners for C12orf4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C12orf4 Gene:


SOURCE GeneReport for Unigene cluster for C12orf4 Gene:

genes like me logo Genes that share expression patterns with C12orf4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for C12orf4 Gene

Orthologs for C12orf4 Gene

This gene was present in the common ancestor of animals.

Orthologs for C12orf4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia C12orf4 35
  • 100 (a)
C12H12orf4 34
  • 99.64 (n)
(Canis familiaris)
Mammalia C12orf4 35
  • 97 (a)
C27H12orf4 34
  • 93.18 (n)
(Bos Taurus)
Mammalia C5H12ORF4 35 35
  • 96 (a)
C5H12orf4 34
  • 88.1 (n)
(Monodelphis domestica)
Mammalia C12orf4 35
  • 90 (a)
(Rattus norvegicus)
Mammalia RGD1311164 34
  • 86.9 (n)
(Mus musculus)
Mammalia D6Wsu163e 34 16 35
  • 86.23 (n)
(Ornithorhynchus anatinus)
Mammalia C12orf4 35
  • 68 (a)
(Gallus gallus)
Aves C1H12ORF4 34 35
  • 79.45 (n)
(Anolis carolinensis)
Reptilia C12orf4 35
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia c12orf4 34
  • 70.92 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC53313 34
(Danio rerio)
Actinopterygii C25H12orf4 35
  • 78 (a)
zgc:154077 34
  • 69.39 (n)
Dr.19005 34
fruit fly
(Drosophila melanogaster)
Insecta CG9986 36 34 35
  • 47.35 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004141 34
  • 45 (n)
(Caenorhabditis elegans)
Secernentea CELE_C55A6.10 34
  • 44.44 (n)
C55A6.10 36 35
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5648 34
Species where no ortholog for C12orf4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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 C12orf4 Gene

Gene Tree for C12orf4 (if available)
Gene Tree for C12orf4 (if available)

Paralogs for C12orf4 Gene

No data available for Paralogs for C12orf4 Gene

Variants for C12orf4 Gene

Sequence variations from dbSNP and Humsavar for C12orf4 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs730882197 Likely pathogenic 4,525,342(-) TAAAA(-/ACAA)CAATC reference, frameshift-variant
rs1029769 -- 4,536,282(-) TAGAA(A/G)TGGGA intron-variant
rs10400483 -- 4,525,820(+) CATCT(A/C)AATGT intron-variant
rs10400529 -- 4,510,417(+) tcgag(A/G)agagc intron-variant
rs1044791 -- 4,489,193(-) CTCAT(C/G/T)CTCCC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for C12orf4 Gene

Variant ID Type Subtype PubMed ID
nsv1040098 CNV gain 25217958
nsv1139563 CNV duplication 24896259
nsv483060 CNV loss 15286789
nsv557123 CNV gain 21841781
nsv586 CNV insertion 18451855

Variation tolerance for C12orf4 Gene

Residual Variation Intolerance Score: 10.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.12; 22.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C12orf4 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C12orf4 Gene

Disorders for C12orf4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for C12orf4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hypophosphatemic rickets, autosomal dominant
  • autosomal dominant hypophosphatemic rickets
intellectual disability
arthrogryposis, distal, type 2a
  • distal arthrogryposis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for C12orf4

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with C12orf4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C12orf4 Gene

Publications for C12orf4 Gene

  1. In-cell intrabody selection from a diverse human library identifies C12orf4 protein as a new player in rodent mast cell degranulation. (PMID: 25122211) Mazuc E. … Martineau P. (PLoS ONE 2014) 2 3 64
  2. Common genetic variants associate with serum phosphorus concentration. (PMID: 20558539) Kestenbaum B. … Fox C.S. (J. Am. Soc. Nephrol. 2010) 3 46 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Identification of C12orf4 as a gene for autosomal recessive intellectual disability. (PMID: 27311568) Philips A.K. … JAorvelAo I. (Clin. Genet. 2017) 3 64
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64

Products for C12orf4 Gene

Sources for C12orf4 Gene

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