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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

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.

UniProtKB/Swiss-Prot for C12orf4 Gene

  • Plays a role in mast cell degranulation.

No data available for Entrez Gene Summary , 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
- Elite enhancer/Elite enhancer-gene association

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

Chromosome:
12
Start:
4,487,728 bp from pter
End:
4,538,508 bp from pter
Size:
50,781 bases
Orientation:
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:
    Q9NQ89-CL004_HUMAN
    Recommended name:
    Protein C12orf4
    Protein Accession:
    Q9NQ89
    Secondary Accessions:
    • D3DUQ8
    • Q6MZH5

    Protein attributes for C12orf4 Gene

    Size:
    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

Other Protein References for C12orf4 Gene

No data available for DME Specific Peptides for C12orf4 Gene

Domains & Families for C12orf4 Gene

Protein Domains for C12orf4 Gene

InterPro:
ProtoNet:

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

CRISPR 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

Cytoplasm.

Subcellular locations from

COMPARTMENTS
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

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:

CRISPR Products

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: -
SP2:

Relevant External Links for C12orf4 Gene

GeneLoc Exon Structure for
C12orf4
ECgene alternative splicing isoforms for
C12orf4

Expression for C12orf4 Gene

mRNA expression in normal human tissues 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:

C12orf4

SOURCE GeneReport for Unigene cluster for C12orf4 Gene:

Hs.302977
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
cow
(Bos Taurus)
Mammalia C5H12orf4 34
  • 88.1 (n)
  • 96.2 (a)
C5H12ORF4 35
  • 96 (a)
OneToMany
C5H12ORF4 35
  • 96 (a)
OneToMany
dog
(Canis familiaris)
Mammalia C27H12orf4 34
  • 93.18 (n)
  • 97.1 (a)
C12orf4 35
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia D6Wsu163e 34
  • 86.23 (n)
  • 94.2 (a)
D6Wsu163e 16
D6Wsu163e 35
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C12H12orf4 34
  • 99.64 (n)
  • 99.82 (a)
C12orf4 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1311164 34
  • 86.9 (n)
  • 94.02 (a)
oppossum
(Monodelphis domestica)
Mammalia C12orf4 35
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C12orf4 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1H12ORF4 34
  • 79.45 (n)
  • 84.18 (a)
C1H12ORF4 35
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C12orf4 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c12orf4 34
  • 70.92 (n)
  • 78.32 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC53313 34
zebrafish
(Danio rerio)
Actinopterygii Dr.19005 34
zgc:154077 34
  • 69.39 (n)
  • 77.82 (a)
C25H12orf4 35
  • 78 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9986 36
  • 35 (a)
CG9986 34
  • 47.35 (n)
  • 38.11 (a)
CG9986 35
  • 35 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004141 34
  • 45 (n)
  • 38.17 (a)
worm
(Caenorhabditis elegans)
Secernentea C55A6.10 36
  • 26 (a)
CELE_C55A6.10 34
  • 44.44 (n)
  • 31.08 (a)
C55A6.10 35
  • 28 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5648 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
OneToOne
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

ENSEMBL:
Gene Tree for C12orf4 (if available)
TreeFam:
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
rs7301898 -- 4,517,365(+) TTTTG(A/G)TTAGA intron-variant
rs7304523 -- 4,516,109(+) ACAGT(C/T)AAAGA intron-variant
rs7304949 -- 4,500,459(+) ATCCC(A/G)AACAT intron-variant
rs7307556 -- 4,522,163(+) TCAGG(C/T)GGTAA intron-variant
rs7956013 -- 4,516,281(+) TTAAC(A/G)ATAGT 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)

Relevant External Links for C12orf4 Gene

Human Gene Mutation Database (HGMD)
C12orf4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C12orf4

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

Disorders for C12orf4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C12orf4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hypophosphatemic rickets, autosomal dominant
  • autosomal dominant hypophosphatemic rickets
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for C12orf4

Genetic Association Database (GAD)
C12orf4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. 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 65
  2. Common genetic variants associate with serum phosphorus concentration. (PMID: 20558539) Kestenbaum B. … Fox C.S. (J. Am. Soc. Nephrol. 2010) 3 46 65
  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 65
  4. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. (PMID: 11062477) White K.E. … Strom T.M. (Nat. Genet. 2000) 3 4 65
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 65

Products for C12orf4 Gene

Sources for C12orf4 Gene

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