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Aliases for C12orf4 Gene

Aliases for C12orf4 Gene

  • Chromosome 12 Open Reading Frame 4 2 3

External Ids for C12orf4 Gene

Summaries for C12orf4 Gene

GeneCards Summary for C12orf4 Gene

C12orf4 (Chromosome 12 Open Reading Frame 4) is a Protein Coding gene.

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

Genomic Location for C12orf4 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C12orf4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C12orf4 Gene

Regulatory Elements 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

Proteomics data for C12orf4 Gene at MOPED

Post-translational modifications for C12orf4 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys220

Other Protein References for C12orf4 Gene

No data available for DME Specific Peptides for C12orf4 Gene

Domains for C12orf4 Gene

Protein Domains for C12orf4 Gene

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

No data available for Gene Families 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.

miRNA for C12orf4 Gene

miRTarBase miRNAs that target C12orf4

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , Transcription Factor Targeting 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 for C12orf4 Gene

SuperPathways for C12orf4 Gene

No Data Available

Interacting Proteins for C12orf4 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000261250%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000382120%0d%0a9606.ENSP00000320413%0d%0a
Selected Interacting proteins: ENSP00000261250 Q9NQ89-CL004_HUMAN for C12orf4 Gene via STRING I2D

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 for C12orf4 Gene

Transcripts for C12orf4 Gene

Unigene Clusters for C12orf4 Gene

Chromosome 12 open reading frame 4:
Representative Sequences:

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for C12orf4 Gene

SOURCE GeneReport for Unigene cluster for C12orf4 Gene Hs.302977

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

Orthologs for C12orf4 Gene

This gene was present in the common ancestor of animals.

Orthologs for C12orf4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C12H12orf4 36
  • 99.64 (n)
  • 99.82 (a)
C12orf4 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C5H12orf4 36
  • 88.1 (n)
  • 96.2 (a)
C5H12ORF4 37
  • 96 (a)
OneToMany
C5H12ORF4 37
  • 96 (a)
OneToMany
dog
(Canis familiaris)
Mammalia C12orf4 37
  • 97 (a)
OneToOne
C27H12orf4 36
  • 93.18 (n)
  • 97.1 (a)
mouse
(Mus musculus)
Mammalia D6Wsu163e 36
  • 86.23 (n)
  • 94.2 (a)
D6Wsu163e 16
D6Wsu163e 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C12orf4 37
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C12orf4 37
  • 68 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1311164 36
  • 86.9 (n)
  • 94.02 (a)
chicken
(Gallus gallus)
Aves C1H12ORF4 36
  • 79.45 (n)
  • 84.18 (a)
C1H12ORF4 37
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C12orf4 37
  • 82 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC53313 36
tropical clawed frog
(Silurana tropicalis)
Amphibia c12orf4 36
  • 70.92 (n)
  • 78.32 (a)
zebrafish
(Danio rerio)
Actinopterygii C25H12orf4 37
  • 78 (a)
OneToOne
Dr.19005 36
zgc:154077 36
  • 69.39 (n)
  • 77.82 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004141 36
  • 45 (n)
  • 38.17 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9986 36
  • 47.35 (n)
  • 38.11 (a)
CG9986 37
  • 35 (a)
OneToOne
CG9986 38
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea C55A6.10 37
  • 28 (a)
OneToOne
CELE_C55A6.10 36
  • 44.44 (n)
  • 31.08 (a)
C55A6.10 38
  • 26 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5648 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 37 (a)
OneToOne
Species with no ortholog for C12orf4:
  • 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 MAF
rs7793 -- 4,487,812(-) TAGGT(A/G)CAGAT utr-variant-3-prime
rs765667 -- 4,496,696(+) CATTA(G/T)GGTAA intron-variant
rs1029769 -- 4,536,282(-) TAGAA(A/G)TGGGA intron-variant
rs1044791 -- 4,489,193(-) CTCAT(C/G/T)CTCCC utr-variant-3-prime
rs1044793 -- 4,488,857(-) TATAA(C/T)ATATT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv586 CNV Insertion 18451855

Relevant External Links for C12orf4 Gene

HapMap Linkage Disequilibrium report
C12orf4
Human Gene Mutation Database (HGMD)
C12orf4

Disorders for C12orf4 Gene

(1) University of Copenhagen DISEASES for C12orf4 Gene

Relevant External Links for C12orf4

Genetic Association Database (GAD)
C12orf4
genes like me logo Genes that share disorders with C12orf4: view

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

Publications for C12orf4 Gene

  1. 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
  2. Common genetic variants associate with serum phosphorus concentration. (PMID: 20558539) Kestenbaum B. … Fox C.S. (J. Am. Soc. Nephrol. 2010) 3 49
  3. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. (PMID: 11062477) White K.E. … Strom T.M. (Nat. Genet. 2000) 3 4
  4. 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
  5. The full-ORF clone resource of the German cDNA consortium. (PMID: 17974005) Bechtel S. … Schupp I. (BMC Genomics 2007) 4

Products for C12orf4 Gene

Sources for C12orf4 Gene

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