C12orf43 Gene (Protein Coding)

Chromosome 12 Open Reading Frame 43

GC12M121000
GIFtS:
34

Aliases for C12orf43 Gene

Aliases for C12orf43 Gene

  • Chromosome 12 Open Reading Frame 43 2 3 5
  • Protein CUSTOS 3 4
  • 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, Type 3 and Maturity-Onset Diabetes Of The Young.

UniProtKB/Swiss-Prot Summary for C12orf43 Gene

  • Plays a role in the regulation of Wnt signaling pathway during early development.

Gene Wiki entry for C12orf43 Gene

Additional gene information for C12orf43 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C12orf43 Gene

Genomics for C12orf43 Gene

GeneHancer (GH) Regulatory Elements for C12orf43 Gene

Promoters and enhancers for C12orf43 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C12orf43 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C12orf43 gene promoter:
  • CUTL1
  • Gfi-1
  • Ik-2
  • RFX1
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT5A
  • Zic1

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)
Size:
14,081 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 Structure • Gene Density

RefSeq DNA sequence for C12orf43 Gene

Proteins for C12orf43 Gene

Products:

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

    Protein Symbol:
    Q96C57-CSTOS_HUMAN
    Recommended name:
    Protein CUSTOS
    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

Protein Expression for C12orf43 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for C12orf43 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C12orf43 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Q96C57

UniProtKB/Swiss-Prot:

CSTOS_HUMAN :
  • Belongs to the CUSTOS family.
Family:
  • Belongs to the CUSTOS family.
genes like me logo Genes that share domains with C12orf43: view

No data available for Suggested Antigen Peptide Sequences for C12orf43 Gene

Function for C12orf43 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for C12orf43 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the regulation of Wnt signaling pathway during early development.

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

CRISPR Products

Clone Products

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

Nucleus envelope.

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

Gene Ontology (GO) - Cellular Components for C12orf43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IEA --
genes like me logo Genes that share ontologies with C12orf43: view

Pathways & Interactions for C12orf43 Gene

PathCards logo

SuperPathways for C12orf43 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C12orf43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0016055 Wnt signaling pathway IEA --
GO:0030178 negative regulation of Wnt signaling pathway IBA 21873635
GO:0060061 Spemann organizer formation IBA 21873635
genes like me logo Genes that share ontologies with C12orf43: view

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

Drugs & Compounds for C12orf43 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for C12orf43 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for C12orf43 Gene

(7) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(110) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for C12orf43 Gene
mRNA expression by GTEx for C12orf43 GenemRNA expression by BioGPS 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 33
  • 100 (a)
 OneToOne
C12H12orf43 32
  • 99.62 (n)
cow
(Bos Taurus)
 Mammalia C17H12orf43 32
  • 77.07 (n)
C12orf43 33
  • 72 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia C26H12orf43 32
  • 76.59 (n)
OASL2 33
  • 72 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia RGD1311899 32
  • 73.33 (n)
mouse
(Mus musculus)
 Mammalia 2210016L21Rik 17 33 32
  • 72.46 (n)
oppossum
(Monodelphis domestica)
 Mammalia C12orf43 33
  • 48 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia C12orf43 33
  • 45 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves C12orf43 33
  • 48 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii C8H12orf43 33
  • 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

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for C12orf43 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs11065390 likely-benign, Maturity onset diabetes mellitus in young 121,001,795(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1169309 benign, Maturity onset diabetes mellitus in young 121,001,389(-) G/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1169310 benign, Maturity onset diabetes mellitus in young 121,001,630(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs137853241 pathogenic, Maturity-onset diabetes of the young, type 3 121,001,155(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs140584786 likely-benign, Maturity onset diabetes mellitus in young 121,002,100(-) G/A 3_prime_UTR_variant, downstream_transcript_variant, genic_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

(2) MalaCards diseases for C12orf43 Gene - From: HGMD and GeneCards

- 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 56
  2. New susceptibility locus for coronary artery disease on chromosome 3q22.3. (PMID: 19198612) Erdmann J … Schunkert H (Nature genetics 2009) 3 43 56
  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 43 56
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 56
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56

ExternalLinks

View latest publications for C12orf43 gene in Mastermind

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