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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 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
GH12F120533 1.5 FANTOM5 ENCODE 21 +479.2 479210 7.1 PKNOX1 ARNT MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 COQ5 GATC C12orf43 MIR4700 POP5 RPL31P52 TRIAP1 ENSG00000111780 DYNLL1 NME2P1
GH12F120958 1.4 Ensembl ENCODE 18.5 +55.4 55429 5.5 HDGF PKNOX1 ARNT MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ACADS C12orf43 SPPL3 OASL ENSG00000256569 ENSG00000255946 MIR4700 UNC119B MLEC ENSG00000256364
GH12F120528 1.2 ENCODE 21 +487.1 487058 2.4 HDGF PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 GCN1 COQ5 ANAPC5 RPL31P52 C12orf43 NME2P1 MIR4700 GATC ENSG00000256695 RPL12P33
GH12F121015 1.1 ENCODE 22.3 +0.1 101 1.4 HDGF CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 DEK C12orf43 NME2P1 SPPL3 PIR58211
GH12F120683 1.2 ENCODE 19.3 +329.1 329055 7.3 CREB3L1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 NFYC ANAPC5 GCN1 ACADS MIR4700 C12orf43 RPL31P52 MLEC ENSG00000256569 NME2P1 ENSG00000255946
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00001781833 502 1601 HDGF CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 DEK

Genomic Location for C12orf43 Gene

121,000,486 bp from pter
121,016,502 bp from pter
16,017 bases
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:
    Recommended name:
    Uncharacterized protein C12orf43
    Protein Accession:
    Secondary Accessions:
    • Q53HF0
    • Q9H9Z7

    Protein attributes for C12orf43 Gene

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

neXtProt entry for C12orf43 Gene

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


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

Gene Ontology (GO) - Molecular Function for C12orf43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21044950
genes like me logo Genes that share ontologies with C12orf43: view
genes like me logo Genes that share phenotypes with C12orf43: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for C12orf43 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 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

Gene Ontology (GO) - Biological Process for C12orf43 Gene


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

Transcripts for C12orf43 Gene

Unigene Clusters for C12orf43 Gene

Chromosome 12 open reading frame 43:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for

Expression for C12orf43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for C12orf43 Gene

Protein tissue co-expression partners for C12orf43 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C12orf43 Gene:


SOURCE GeneReport for Unigene cluster for C12orf43 Gene:

genes like me logo Genes that share expression patterns with C12orf43: 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 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
(Pan troglodytes)
Mammalia C12ORF43 35
  • 100 (a)
C12H12orf43 34
  • 99.62 (n)
(Bos Taurus)
Mammalia C17H12orf43 34
  • 77.07 (n)
C12orf43 35
  • 72 (a)
(Canis familiaris)
Mammalia C26H12orf43 34
  • 76.59 (n)
OASL2 35
  • 72 (a)
(Rattus norvegicus)
Mammalia RGD1311899 34
  • 73.33 (n)
(Mus musculus)
Mammalia 2210016L21Rik 34 16 35
  • 72.46 (n)
(Monodelphis domestica)
Mammalia C12orf43 35
  • 48 (a)
(Ornithorhynchus anatinus)
Mammalia C12orf43 35
  • 45 (a)
(Gallus gallus)
Aves C12orf43 35
  • 48 (a)
(Danio rerio)
Actinopterygii C8H12orf43 35
  • 36 (a)
Species where no ortholog for C12orf43 was found in the sources mined by GeneCards:
  • 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

Gene Tree for C12orf43 (if available)
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
rs10636003 -- 121,012,860(+) AAAAA(-/AAAA)GATGG intron-variant, upstream-variant-2KB
rs11065392 -- 121,008,042(+) ggata(A/G)acccc intron-variant
rs11065393 -- 121,008,943(+) CTGGG(C/T)TAAAC intron-variant
rs11065394 -- 121,009,119(+) ATCCA(A/G)ATGTT intron-variant
rs11065395 -- 121,010,002(+) GCAGG(A/G)GTTAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv832531 CNV gain 17160897
nsv521928 CNV gain 19592680
nsv1039216 CNV gain 25217958
esv3580504 CNV loss 25503493
esv2759917 CNV loss 17122850

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

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 C12orf43 Gene

Disorders for C12orf43 Gene

Relevant External Links for C12orf43

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

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 46 64
  2. Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. (PMID: 18940312) Yuan X. … Mooser V. (Am. J. Hum. Genet. 2008) 3 46 64
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. 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

Products for C12orf43 Gene

Sources for C12orf43 Gene

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