Aliases for C12orf42 Gene

Aliases for C12orf42 Gene

  • Chromosome 12 Open Reading Frame 42 2 3 5
  • Uncharacterized Protein C12orf42 3 4

External Ids for C12orf42 Gene

Previous GeneCards Identifiers for C12orf42 Gene

  • GC12M102199
  • GC12M103631
  • GC12M100754
  • GC12M103237

Summaries for C12orf42 Gene

GeneCards Summary for C12orf42 Gene

C12orf42 (Chromosome 12 Open Reading Frame 42) is a Protein Coding gene.

Additional gene information for C12orf42 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C12orf42 Gene

Genomics for C12orf42 Gene

GeneHancer (GH) Regulatory Elements for C12orf42 Gene

Promoters and enhancers for C12orf42 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
GH12J103492 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 500.3 +30.7 30672 4 CTCF EP300 ZIC2 ZNF623 ZBTB26 RFX1 RAD21 TRIM22 EZH2 HDAC2 LOC105369945 lnc-NT5DC3-5 C12orf42 piR-55194-103
GH12J103523 Enhancer 0.6 Ensembl ENCODE 500.7 +1.0 1041 0.8 GATA3 MYC GATA2 C12orf42 piR-38351-113 ENSG00000286197
GH12J103569 Promoter 0.3 EPDnew 500.3 -44.5 -44500 0.1 ENSG00000286197 C12orf42 ENSG00000212594 piR-56692-008 LINC02401
GH12J103570 Promoter/Enhancer 0.9 Ensembl ENCODE 10.7 -46.2 -46220 1.4 TEAD4 YY1 CTCF SIN3A TEAD3 TAF1 TBP GATA2 CTBP2 HNRNPL ENSG00000286197 STAB2 ENSG00000212594 C12orf42 LINC02401
GH12J103559 Enhancer 0.9 Ensembl ENCODE 10.8 -35.7 -35725 3.8 TCF12 JUND FOS REST CTBP1 CREB1 FOXA2 SIX5 FOSL2 RFX5 STAB2 C12orf42 ENSG00000212594 piR-56692-008 ENSG00000286197 LINC02401
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C12orf42 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C12orf42

Top Transcription factor binding sites by QIAGEN in the C12orf42 gene promoter:
  • aMEF-2
  • Bach1
  • HNF-1
  • HNF-1A
  • MEF-2A

Genomic Locations for C12orf42 Gene

Genomic Locations for C12orf42 Gene
chr12:103,079,645-103,525,254
(GRCh38/hg38)
Size:
445,610 bases
Orientation:
Minus strand
chr12:103,631,369-103,889,749
(GRCh37/hg19)
Size:
258,381 bases
Orientation:
Minus strand

Genomic View for C12orf42 Gene

Genes around C12orf42 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C12orf42 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C12orf42 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C12orf42 Gene

Proteins for C12orf42 Gene

  • Protein details for C12orf42 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96LP6-CL042_HUMAN
    Recommended name:
    Uncharacterized protein C12orf42
    Protein Accession:
    Q96LP6
    Secondary Accessions:
    • Q49A64
    • Q4G0S2

    Protein attributes for C12orf42 Gene

    Size:
    360 amino acids
    Molecular mass:
    39738 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for C12orf42 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C12orf42 Gene

Post-translational modifications for C12orf42 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C12orf42 Gene

Domains & Families for C12orf42 Gene

Gene Families for C12orf42 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C12orf42 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with C12orf42: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C12orf42 Gene

Function for C12orf42 Gene

Phenotypes From GWAS Catalog for C12orf42 Gene

genes like me logo Genes that share phenotypes with C12orf42: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C12orf42 Gene

Localization for C12orf42 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 C12orf42 gene
Compartment Confidence
nucleus 2
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for C12orf42 Gene

Pathways & Interactions for C12orf42 Gene

PathCards logo

SuperPathways for C12orf42 Gene

No Data Available

Interacting Proteins for C12orf42 Gene

;

Gene Ontology (GO) - Biological Process for C12orf42 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C12orf42 Gene

Drugs & Compounds for C12orf42 Gene

No Compound Related Data Available

Transcripts for C12orf42 Gene

mRNA/cDNA for C12orf42 Gene

4 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
16 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 C12orf42 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b
SP1:
SP2: - -
SP3: -

Relevant External Links for C12orf42 Gene

GeneLoc Exon Structure for
C12orf42

Expression for C12orf42 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C12orf42 Gene

mRNA differential expression in normal tissues according to GTEx for C12orf42 Gene

This gene is overexpressed in Testis (x38.4) and Spleen (x4.5).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C12orf42

SOURCE GeneReport for Unigene cluster for C12orf42 Gene:

Hs.534649
genes like me logo Genes that share expression patterns with C12orf42: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C12orf42 Gene

Orthologs for C12orf42 Gene

This gene was present in the common ancestor of mammals.

Orthologs for C12orf42 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C12H12orf42 30
  • 99.44 (n)
C12orf42 31
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C5H12orf42 30
  • 74 (n)
mouse
(Mus musculus)
Mammalia 1700113H08Rik 17 31 30
  • 65.73 (n)
rat
(Rattus norvegicus)
Mammalia RGD1560034 30
  • 64.54 (n)
Species where no ortholog for C12orf42 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • zebrafish (Danio rerio)

Evolution for C12orf42 Gene

ENSEMBL:
Gene Tree for C12orf42 (if available)
TreeFam:
Gene Tree for C12orf42 (if available)

Paralogs for C12orf42 Gene

Pseudogenes.org Pseudogenes for C12orf42 Gene

genes like me logo Genes that share paralogs with C12orf42: view

No data available for Paralogs for C12orf42 Gene

Variants for C12orf42 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C12orf42 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs10778257 - p.Glu11Asp
rs7484376 - p.Pro182Arg

Additional dbSNP identifiers (rs#s) for C12orf42 Gene

Structural Variations from Database of Genomic Variants (DGV) for C12orf42 Gene

Variant ID Type Subtype PubMed ID
dgv309e199 CNV deletion 23128226
esv22217 CNV loss 19812545
esv3444861 CNV insertion 20981092
esv3630608 CNV loss 21293372
esv3630609 CNV gain 21293372
esv3630612 CNV gain 21293372
esv3630613 CNV loss 21293372
nsv1118243 CNV deletion 24896259
nsv521147 CNV loss 19592680
nsv560037 CNV gain 21841781
nsv826506 CNV loss 20364138
nsv832501 CNV gain 17160897

Variation tolerance for C12orf42 Gene

Residual Variation Intolerance Score: 82.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.28; 52.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C12orf42 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C12orf42

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C12orf42 Gene

Disorders for C12orf42 Gene

Additional Disease Information for C12orf42

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

No disorders were found for C12orf42 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C12orf42 Gene

Publications for C12orf42 Gene

  1. A genome-wide association study identifies a region at chromosome 12 as a potential susceptibility locus for restenosis after percutaneous coronary intervention. (PMID: 21878436) Sampietro ML … Jukema JW (Human molecular genetics 2011) 3 41 54
  2. Molecular characterization of a novel chromosomal translocation t(12;14)(q23;q11.2) in T-lymphoblastic lymphoma between the T-cell receptor delta-deleting elements (TRDREC and TRAJ61) and the hypothetical gene C12orf42. (PMID: 20659153) Przybylski GK … Schmidt CA (European journal of haematology 2010) 2 3 54
  3. 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 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Biological insights from 108 schizophrenia-associated genetic loci. (PMID: 25056061) Schizophrenia Working Group of the Psychiatric Genomics Consortium (Nature 2014) 3 54

Products for C12orf42 Gene

Sources for C12orf42 Gene