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Aliases for C12orf40 Gene

Aliases for C12orf40 Gene

  • Chromosome 12 Open Reading Frame 40 2 3 5
  • Epididymis Secretory Protein Li 94 3
  • Uncharacterized Protein C12orf40 3
  • Epididymis Luminal Protein 206 3
  • HEL-S-94 3
  • HEL-206 3

External Ids for C12orf40 Gene

Previous GeneCards Identifiers for C12orf40 Gene

  • GC12P038307
  • GC12P040019
  • GC12P037046

Summaries for C12orf40 Gene

GeneCards Summary for C12orf40 Gene

C12orf40 (Chromosome 12 Open Reading Frame 40) is a Protein Coding gene.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C12orf40 Gene

Genomics for C12orf40 Gene

Regulatory Elements for C12orf40 Gene

Enhancers for C12orf40 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
GH12F039682 1 Ensembl ENCODE 16 +57.0 56953 1.2 HLF C12orf40 PIR34151 ABCD2
GH12F039440 1.1 ENCODE 10.5 -183.4 -183385 3.9 ARNT ARID4B SIN3A DMAP1 YY1 ZNF143 SP3 SP5 MXD4 REST C12orf40 KIF21A GC12P039416
GH12F039772 0.2 ENCODE 5.3 +146.8 146824 1.0 GTF2F1 SMARCC1 MXI1 STAT1 CEBPB EP300 MAFF STAT3 NFE2 RCOR1 C12orf40 GC12M039756 GC12M039794
GH12F039629 0.2 Ensembl 0.8 +3.0 3034 0.4 ZMYM3 MLLT1 LOC105369730 C12orf40 ABCD2
GH12F039617 0.5 ENCODE 0.4 -5.8 -5827 5.6 HDGF PKNOX1 WRNIP1 ZNF133 SIN3A FEZF1 YY1 GATA2 ELK1 CBX5 KIF21A C12orf40 ENSG00000270273
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around C12orf40 on UCSC Golden Path with GeneCards custom track

Genomic Location for C12orf40 Gene

39,626,167 bp from pter
39,908,300 bp from pter
282,134 bases
Plus strand

Genomic View for C12orf40 Gene

Genes around C12orf40 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C12orf40 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C12orf40 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C12orf40 Gene

Proteins for C12orf40 Gene

  • Protein details for C12orf40 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Uncharacterized protein C12orf40
    Protein Accession:
    Secondary Accessions:
    • B7WNU1
    • Q8IXY6
    • Q8N818
    • V9HW02

    Protein attributes for C12orf40 Gene

    652 amino acids
    Molecular mass:
    74505 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAH38754.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for C12orf40 Gene


neXtProt entry for C12orf40 Gene

Post-translational modifications for C12orf40 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C12orf40 Gene

No data available for DME Specific Peptides for C12orf40 Gene

Domains & Families for C12orf40 Gene

Protein Domains for C12orf40 Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C12orf40: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C12orf40 Gene

Function for C12orf40 Gene

Gene Ontology (GO) - Molecular Function for C12orf40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with C12orf40: view
genes like me logo Genes that share phenotypes with C12orf40: view

Animal Model Products

miRNA for C12orf40 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C12orf40 Gene

Localization for C12orf40 Gene

Subcellular locations from

Jensen Localization Image for C12orf40 Gene COMPARTMENTS Subcellular localization image for C12orf40 gene
Compartment Confidence
nucleus 3
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C12orf40 Gene

Pathways & Interactions for C12orf40 Gene

SuperPathways for C12orf40 Gene

No Data Available

Interacting Proteins for C12orf40 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: ENSP00000317671 Q86WS4-CL040_HUMAN for C12orf40 Gene via STRING IID UniProtKB

Gene Ontology (GO) - Biological Process for C12orf40 Gene


No data available for Pathways by source and SIGNOR curated interactions for C12orf40 Gene

Transcripts for C12orf40 Gene

mRNA/cDNA for C12orf40 Gene

(4) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(13) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C12orf40 Gene

Chromosome 12 open reading frame 40:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C12orf40 Gene

No ASD Table

Relevant External Links for C12orf40 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C12orf40 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C12orf40 Gene

mRNA differential expression in normal tissues according to GTEx for C12orf40 Gene

This gene is overexpressed in Testis (x43.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C12orf40 Gene

NURSA nuclear receptor signaling pathways regulating expression of C12orf40 Gene:


SOURCE GeneReport for Unigene cluster for C12orf40 Gene:

genes like me logo Genes that share expression patterns with C12orf40: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for C12orf40 Gene

Orthologs for C12orf40 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C12orf40 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia C12H12orf40 34
  • 99.44 (n)
C12orf40 35
  • 98 (a)
(Canis familiaris)
Mammalia C27H12orf40 34
  • 83.65 (n)
C12orf40 35
  • 71 (a)
(Bos Taurus)
Mammalia C5H12orf40 34
  • 82.58 (n)
C12orf40 35
  • 65 (a)
(Rattus norvegicus)
Mammalia LOC690142 34
  • 71.14 (n)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 64 (a)
-- 35
  • 35 (a)
(Monodelphis domestica)
Mammalia C12orf40 35
  • 57 (a)
(Mus musculus)
Mammalia CN725425 35
  • 53 (a)
(Gallus gallus)
Aves C1H12orf40 34
  • 51.43 (n)
C12orf40 35
  • 27 (a)
Species where no ortholog for C12orf40 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)
  • zebrafish (Danio rerio)

Evolution for C12orf40 Gene

Gene Tree for C12orf40 (if available)
Gene Tree for C12orf40 (if available)

Paralogs for C12orf40 Gene

No data available for Paralogs for C12orf40 Gene

Variants for C12orf40 Gene

Sequence variations from dbSNP and Humsavar for C12orf40 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs10047563 -- 39,683,226(+) CACAC(A/G)TCTAT intron-variant
rs10083196 -- 39,776,729(+) TGAGA(A/C)ATTTT intron-variant
rs10219652 -- 39,720,388(+) GTTTC(C/T)TTCGA intron-variant
rs10437958 -- 39,879,992(+) tgata(C/G)tgagt intron-variant
rs10444570 -- 39,775,024(+) TTCAT(C/T)CCCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C12orf40 Gene

Variant ID Type Subtype PubMed ID
dgv197n27 CNV loss 19166990
dgv2575n54 CNV loss 21841781
dgv804n106 CNV duplication 24896259
esv1277090 CNV insertion 17803354
esv1444745 CNV insertion 17803354
esv2452886 CNV loss 19546169
esv2745776 CNV deletion 23290073
esv2745777 CNV deletion 23290073
esv2745778 CNV deletion 23290073
esv3306748 CNV mobile element insertion 20981092
esv3330696 CNV insertion 20981092
esv3413734 CNV insertion 20981092
esv3450520 CNV insertion 20981092
esv3549084 CNV deletion 23714750
esv3629266 CNV loss 21293372
esv3629268 CNV loss 21293372
esv3629269 CNV loss 21293372
esv3629270 CNV loss 21293372
esv3629271 CNV loss 21293372
nsv1039645 CNV loss 25217958
nsv1076387 CNV duplication 25765185
nsv1122724 CNV deletion 24896259
nsv1140288 OTHER inversion 24896259
nsv1142806 CNV tandem duplication 24896259
nsv1144617 CNV deletion 24896259
nsv1145596 CNV deletion 24896259
nsv1148043 CNV duplication 26484159
nsv53793 CNV deletion 16902084
nsv957302 CNV deletion 24416366

Variation tolerance for C12orf40 Gene

Residual Variation Intolerance Score: 79.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.33; 76.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C12orf40 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C12orf40 Gene

Disorders for C12orf40 Gene

Relevant External Links for C12orf40

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for C12orf40 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C12orf40 Gene

Publications for C12orf40 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  4. The finished DNA sequence of human chromosome 12. (PMID: 16541075) Scherer S.E. … Gibbs R.A. (Nature 2006) 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) 4 64

Products for C12orf40 Gene

Sources for C12orf40 Gene

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