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Aliases for C12orf4 Gene

Aliases for C12orf4 Gene

  • Chromosome 12 Open Reading Frame 4 2 3 5
  • Protein C12orf4 3

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 Autosomal Recessive Non-Syndromic Intellectual Disability and Hypophosphatemic Rickets, Autosomal Dominant.

UniProtKB/Swiss-Prot for C12orf4 Gene

  • Plays a role in mast cell degranulation.

Additional gene information for C12orf4 Gene

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

Genomics for C12orf4 Gene

GeneHancer (GH) Regulatory Elements for C12orf4 Gene

Promoters and enhancers for C12orf4 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
GH12J004537 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 -0.5 -489 3 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 C12orf4 RAD51AP1 NTF3 GC12M004550
GH12J004561 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 10.6 -23.7 -23679 1.2 ARID4B KLF17 ZNF48 ZNF614 GLIS2 SP5 MXD4 REST ZNF592 KAT8 DYRK4 C12orf4 RAD51AP1 AKAP3 GC12M004550
GH12J004439 Enhancer 0.9 Ensembl ENCODE 14.5 +97.3 97253 2.9 ZBTB21 KLF17 FEZF1 ZIC2 ZNF324 ZNF335 ZFHX2 ZBTB48 PATZ1 EZH2 C12orf4 FGF23 RAD51AP1 FGF6
GH12J004564 Enhancer 0.8 Ensembl ENCODE 11.8 -28.2 -28185 4.2 SRF ZNF687 NR2F1 BHLHE40 ELF1 DPF2 SP1 IKZF1 NBN HMBOX1 AKAP3 RAD51AP1 C12orf4 LOC103568124 NDUFA9 TIGAR DYRK4
GH12J004506 Enhancer 0.8 ENCODE 10.8 +31.3 31292 1.8 ELF3 FOXA2 MLX STAT5A BATF IRF4 YY1 ETV6 BCLAF1 RUNX3 FGF6 FGF23 C12orf4 RAD51AP1 TIGAR
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C12orf4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C12orf4 gene promoter:
  • E2F-5
  • E2F-4
  • E2F-3a
  • E2F-2
  • E2F-1
  • E2F
  • AREB6
  • RORalpha2
  • PPAR-gamma2
  • PPAR-gamma1

Genomic Locations for C12orf4 Gene

Genomic Locations for C12orf4 Gene
50,781 bases
Minus strand
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 posLast=220220
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Boster Bio Antibodies for C12orf4
  • Santa Cruz Biotechnology (SCBT) Antibodies for C12orf4

No data available for DME Specific Peptides for C12orf4 Gene

Domains & Families for C12orf4 Gene

Gene Families for C12orf4 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 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.

Phenotypes From GWAS Catalog for C12orf4 Gene

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

Animal Model Products

Clone 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

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 C12orf4 gene
Compartment Confidence
nucleus 2
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
See all subcellular structures

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

STRING Interaction Network Preview (showing 5 interactants - click image to see details)
Selected Interacting proteins: ENSP00000261250 Q9NQ89-CL004_HUMAN for C12orf4 Gene via STRING IID

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

Drugs & Compounds for C12orf4 Gene

No Compound Related Data Available

Transcripts for C12orf4 Gene

Unigene Clusters for C12orf4 Gene

Chromosome 12 open reading frame 4:
Representative Sequences:

Clone 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 CGAP 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, 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:


Evidence on tissue expression from TISSUES for C12orf4 Gene

  • Eye(4.1)
  • Liver(4.1)
  • Nervous system(3.6)
genes like me logo Genes that share expression patterns with C12orf4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34
  • 100 (a)
C12H12orf4 33
  • 99.64 (n)
(Canis familiaris)
Mammalia C12orf4 34
  • 97 (a)
C27H12orf4 33
  • 93.18 (n)
(Bos Taurus)
Mammalia C5H12ORF4 34 34
  • 96 (a)
LOC100847559 33
  • 88.1 (n)
(Monodelphis domestica)
Mammalia C12orf4 34
  • 90 (a)
(Rattus norvegicus)
Mammalia RGD1311164 33
  • 86.9 (n)
(Mus musculus)
Mammalia D6Wsu163e 16 34 33
  • 86.23 (n)
(Ornithorhynchus anatinus)
Mammalia C12orf4 34
  • 68 (a)
(Gallus gallus)
Aves C1H12ORF4 34 33
  • 79.45 (n)
(Anolis carolinensis)
Reptilia C12orf4 34
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia c12orf4 33
  • 70.92 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC53313 33
(Danio rerio)
Actinopterygii C25H12orf4 34
  • 78 (a)
zgc:154077 33
  • 69.39 (n)
Dr.19005 33
fruit fly
(Drosophila melanogaster)
Insecta CG9986 34 35 33
  • 47.35 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004141 33
  • 45 (n)
(Caenorhabditis elegans)
Secernentea CELE_C55A6.10 33
  • 44.44 (n)
C55A6.10 34 35
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 37 (a)
Cin.5648 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5648 33
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 Variation AA Info Type
rs730882197 likely-pathogenic, Attention deficit hyperactivity disorder, Intellectual disability, Muscular hypotonia 4,525,343(-) TT/TTGTTT coding_sequence_variant, frameshift
rs886041150 uncertain-significance, not specified 4,525,340(-) TTGTTT/TTGTTTGTTT coding_sequence_variant, frameshift
rs1000099084 -- 4,523,804(-) C/G intron_variant
rs1000110653 -- 4,517,707(-) A/T intron_variant
rs1000129103 -- 4,499,610(-) G/C genic_downstream_transcript_variant, intron_variant

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)

Additional Variant Information 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

(2) MalaCards diseases for C12orf4 Gene - From: HGMD, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
hypophosphatemic rickets, autosomal dominant
  • adhr
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C12orf4

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. Identification of C12orf4 as a gene for autosomal recessive intellectual disability. (PMID: 27311568) Philips AK … Järvelä I (Clinical genetics 2017) 2 3 58
  2. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. (PMID: 25558065) Alazami AM … Alkuraya FS (Cell reports 2015) 2 3 58
  3. 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 58
  4. Common genetic variants associate with serum phosphorus concentration. (PMID: 20558539) Kestenbaum B … Fox CS (Journal of the American Society of Nephrology : JASN 2010) 3 44 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for C12orf4 Gene

Sources for C12orf4 Gene

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