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Aliases for C12orf43 Gene

Aliases for C12orf43 Gene

  • Chromosome 12 Open Reading Frame 43 2 3 5

External Ids for C12orf43 Gene

Previous GeneCards Identifiers for C12orf43 Gene

  • GC12M119904
  • GC12M121440
  • GC12M118449

Summaries for C12orf43 Gene

GeneCards Summary for C12orf43 Gene

C12orf43 (Chromosome 12 Open Reading Frame 43) is a Protein Coding gene.

Gene Wiki entry for C12orf43 Gene

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C12orf43 Gene

Genomics for C12orf43 Gene

Regulatory Elements for C12orf43 Gene

Enhancers for C12orf43 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around C12orf43 on UCSC Golden Path with GeneCards custom track

Promoters for C12orf43 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around C12orf43 on UCSC Golden Path with GeneCards custom track

Genomic Location for C12orf43 Gene

Chromosome:
12
Start:
121,000,486 bp from pter
End:
121,016,502 bp from pter
Size:
16,017 bases
Orientation:
Minus strand

Genomic View for C12orf43 Gene

Genes around C12orf43 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C12orf43 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C12orf43 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C12orf43 Gene

Proteins for C12orf43 Gene

  • Protein details for C12orf43 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96C57-CL043_HUMAN
    Recommended name:
    Uncharacterized protein C12orf43
    Protein Accession:
    Q96C57
    Secondary Accessions:
    • Q53HF0
    • Q9H9Z7

    Protein attributes for C12orf43 Gene

    Size:
    262 amino acids
    Molecular mass:
    28171 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C12orf43 Gene

Proteomics data for C12orf43 Gene at MOPED

Post-translational modifications for C12orf43 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C12orf43 Gene

Domains & Families for C12orf43 Gene

Protein Domains for C12orf43 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C12orf43: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C12orf43 Gene

Function for C12orf43 Gene

genes like me logo Genes that share phenotypes with C12orf43: view

Animal Models for C12orf43 Gene

MGI Knock Outs for C12orf43:

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for C12orf43 Gene

Localization for C12orf43 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C12orf43 Gene COMPARTMENTS Subcellular localization image for C12orf43 gene
Compartment Confidence
nucleus 4

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C12orf43 Gene

Pathways & Interactions for C12orf43 Gene

SuperPathways for C12orf43 Gene

No Data Available

Interacting Proteins for C12orf43 Gene

STRING Interaction Network Preview (showing 2 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.ENSP00000288757%0d%0a9606.ENSP00000276603%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000288757 Q96C57-CL043_HUMAN for C12orf43 Gene via STRING UniProtKB

Gene Ontology (GO) - Biological Process for C12orf43 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C12orf43 Gene

Drugs & Compounds for C12orf43 Gene

No Compound Related Data Available

Transcripts for C12orf43 Gene

Unigene Clusters for C12orf43 Gene

Chromosome 12 open reading frame 43:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C12orf43 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d
SP1: - - -
SP2: - - -
SP3: - -
SP4: - -
SP5: - - - -
SP6: - -

Relevant External Links for C12orf43 Gene

GeneLoc Exon Structure for
C12orf43
ECgene alternative splicing isoforms for
C12orf43

Expression for C12orf43 Gene

mRNA expression in normal human tissues for C12orf43 Gene

Protein differential expression in normal tissues from HIPED for C12orf43 Gene

This gene is overexpressed in Lung (28.8), Pancreas (13.5), and CD8 Tcells (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for C12orf43 Gene



SOURCE GeneReport for Unigene cluster for C12orf43 Gene Hs.528671

genes like me logo Genes that share expression patterns with C12orf43: view

Protein tissue co-expression partners for C12orf43 Gene

- Elite partner

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 C12orf43 Gene

Orthologs for C12orf43 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C12orf43 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia C17H12orf43 35
  • 77.07 (n)
  • 70.51 (a)
C12orf43 36
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C26H12orf43 35
  • 76.59 (n)
  • 70.99 (a)
OASL2 36
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2210016L21Rik 35
  • 72.46 (n)
  • 67.19 (a)
2210016L21Rik 16
2210016L21Rik 36
  • 66 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C12H12orf43 35
  • 99.62 (n)
  • 100 (a)
C12ORF43 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1311899 35
  • 73.33 (n)
  • 67.06 (a)
oppossum
(Monodelphis domestica)
Mammalia C12orf43 36
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C12orf43 36
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves C12orf43 36
  • 48 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii C8H12orf43 36
  • 36 (a)
OneToOne
Species with no ortholog for C12orf43:
  • 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)
  • lizard (Anolis carolinensis)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C12orf43 Gene

ENSEMBL:
Gene Tree for C12orf43 (if available)
TreeFam:
Gene Tree for C12orf43 (if available)

Paralogs for C12orf43 Gene

No data available for Paralogs for C12orf43 Gene

Variants for C12orf43 Gene

Sequence variations from dbSNP and Humsavar for C12orf43 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs11537857 - 121,016,345(-) TGGCA(A/G/T)GGAAG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs1922764 -- 121,003,031(-) AAAAA(A/G)AAAAA nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs2178464 -- 121,003,637(+) AGCTC(C/T)CCTTT nc-transcript-variant, utr-variant-3-prime
rs2244436 -- 121,012,725(-) acagg(A/C/T)gtgca intron-variant
rs2254971 -- 121,012,581(-) gccac(C/G)gcgcc intron-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for C12orf43 Gene

Variant ID Type Subtype PubMed ID
nsv521928 CNV Gain 19592680
nsv899559 CNV Gain 21882294
dgv1496n71 CNV Gain 21882294
dgv529e1 CNV Complex 17122850
nsv832531 CNV Gain 17160897

Variation tolerance for C12orf43 Gene

Residual Variation Intolerance Score: 53.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.91; 48.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C12orf43 Gene

HapMap Linkage Disequilibrium report
C12orf43
Human Gene Mutation Database (HGMD)
C12orf43

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C12orf43 Gene

Disorders for C12orf43 Gene

Relevant External Links for C12orf43

Genetic Association Database (GAD)
C12orf43
Human Genome Epidemiology (HuGE) Navigator
C12orf43
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C12orf43

No disorders were found for C12orf43 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C12orf43 Gene

Publications for C12orf43 Gene

  1. New susceptibility locus for coronary artery disease on chromosome 3q22.3. (PMID: 19198612) Erdmann J. … Schunkert H. (Nat. Genet. 2009) 3 48 67
  2. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W. … Gibbs R.A. (Genome Res. 1997) 2 3
  3. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B. … Gibbs R.A. (Anal. Biochem. 1996) 2 3
  4. Genetic loci associated with circulating levels of very long-chain saturated fatty acids. (PMID: 25378659) Lemaitre R.N. … Friedlander Y. (J. Lipid Res. 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for C12orf43 Gene

Sources for C12orf43 Gene

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