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Aliases for C12orf43 Gene

Aliases for C12orf43 Gene

  • Chromosome 12 Open Reading Frame 43 2 3 5
  • Uncharacterized Protein C12orf43 3
  • Custos 3

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. Diseases associated with C12orf43 include Maturity-Onset Diabetes Of The Young.

Gene Wiki entry for C12orf43 Gene

Additional gene information for C12orf43 Gene

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

Genomics for C12orf43 Gene

GeneHancer (GH) Regulatory Elements for C12orf43 Gene

Promoters and enhancers for C12orf43 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J121015 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 672.2 +0.1 148 1.5 HDGF ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B C12orf43 GCN1 RPLP0 ANAPC5 SETD1B SPPL3 PIR58211
GH12J121018 Enhancer 0.8 ENCODE 650.7 -1.8 -1831 0.2 ATF1 ZNF766 ATF7 CREM ZBTB11 ZNF592 MEF2D NFIC KDM1A ZNF24 C12orf43 OASL P2RX4 SPPL3
GH12J120683 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.8 +329.1 329054 7.3 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 MLEC LOC105370029 GCN1 ACADS ANAPC5 RPL31P52 PXN RAB35 ENSG00000256569 C12orf43
GH12J120958 Enhancer 1.3 Ensembl ENCODE dbSUPER 18.5 +55.4 55428 5.5 PKNOX1 BATF IRF4 RARA ATF7 IKZF2 RUNX3 CREM PAF1 SP5 ACADS C12orf43 SPPL3 OASL ENSG00000256569 ENSG00000255946 UNC119B MLEC ENSG00000256364 P2RX4
GH12J120290 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 9.8 +724.3 724272 3.4 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SIRT4 GC12M120292 GC12M120294 RNU4-1 RNU4-2 GCN1 RAB35 PXN RPL31P52 PRKAB1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C12orf43 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C12orf43 gene promoter:

Genomic Locations for C12orf43 Gene

Genomic Locations for C12orf43 Gene
chr12:121,000,486-121,016,502
(GRCh38/hg38)
Size:
16,017 bases
Orientation:
Minus strand
chr12:121,440,225-121,454,305
(GRCh37/hg19)

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

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

Gene Families for C12orf43 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C12orf43 Gene

Function for C12orf43 Gene

Phenotypes From GWAS Catalog 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

Clone 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

COMPARTMENTS
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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (4)
  • Golgi apparatus (2)
See all subcellular structures

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

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:

Clone 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
C12orf43
ECgene alternative splicing isoforms for
C12orf43

Expression for C12orf43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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:

C12orf43

SOURCE GeneReport for Unigene cluster for C12orf43 Gene:

Hs.528671

Evidence on tissue expression from TISSUES for C12orf43 Gene

  • Nervous system(4.2)
  • Pancreas(3.8)
  • Eye(3.1)
  • Intestine(2.9)
  • Lung(2.8)
  • Liver(2)
genes like me logo Genes that share expression patterns with C12orf43: 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 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
chimpanzee
(Pan troglodytes)
Mammalia C12ORF43 34
  • 100 (a)
OneToOne
C12H12orf43 33
  • 99.62 (n)
cow
(Bos Taurus)
Mammalia C17H12orf43 33
  • 77.07 (n)
C12orf43 34
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C26H12orf43 33
  • 76.59 (n)
OASL2 34
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1311899 33
  • 73.33 (n)
mouse
(Mus musculus)
Mammalia 2210016L21Rik 16 34 33
  • 72.46 (n)
oppossum
(Monodelphis domestica)
Mammalia C12orf43 34
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C12orf43 34
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves C12orf43 34
  • 48 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii C8H12orf43 34
  • 36 (a)
OneToOne
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

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 Variation AA Info Type
rs1030108448 uncertain-significance, Maturity-onset diabetes of the young 121,002,263(-) G/A/T downstream_transcript_variant
rs140584786 likely-benign, Maturity-onset diabetes of the young 121,002,100(-) G/A downstream_transcript_variant
rs41279096 benign, Maturity-onset diabetes of the young 121,002,460(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs56335342 uncertain-significance, Maturity-onset diabetes of the young 121,002,504(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs568653423 uncertain-significance, Maturity-onset diabetes of the young 121,002,262(-) C/T downstream_transcript_variant

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

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

Additional Variant Information for C12orf43 Gene

Human Gene Mutation Database (HGMD)
C12orf43
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C12orf43

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

Disorders for C12orf43 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C12orf43 Gene - From: GeneCards

Disorder Aliases PubMed IDs
maturity-onset diabetes of the young
  • mody
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C12orf43

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with C12orf43: view

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

Publications for C12orf43 Gene

  1. Custos controls β-catenin to regulate head development during vertebrate embryogenesis. (PMID: 25157132) Komiya Y … Habas R (Proceedings of the National Academy of Sciences of the United States of America 2014) 2 3 58
  2. New susceptibility locus for coronary artery disease on chromosome 3q22.3. (PMID: 19198612) Erdmann J … Schunkert H (Nature genetics 2009) 3 44 58
  3. Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. (PMID: 18940312) Yuan X … Mooser V (American journal of human genetics 2008) 3 44 58
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 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 C12orf43 Gene

Sources for C12orf43 Gene

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