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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.

Additional gene information for C12orf40 Gene

No data available for Entrez Gene Summary , CIViC 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

GeneHancer (GH) Regulatory Elements for C12orf40 Gene

Promoters and enhancers for C12orf40 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J039626 Promoter 1.1 EPDnew 650.7 0.0 -1 0.1 CTCF MEIS2 ATF1 NFRKB E4F1 CHAMP1 CC2D1A ZNF766 PHF20 ARID2 C12orf40 ABCD2 ENSG00000270273 GC12P039462
GH12J039556 Promoter 0.5 EPDnew 650.2 -69.7 -69707 0.1 C12orf40 ENSG00000270273 ABCD2 GC12P039462
GH12J039440 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 10.5 -183.5 -183495 4.1 HDGF ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 CBX5 ZNF213 KIF21A C12orf40 GC12P039416
GH12J039595 Enhancer 0.7 dbSUPER 11.4 -27.5 -27461 7.3 ZBTB21 ZFP64 ZNF140 ZNF266 CEBPG ZNF697 ZNF664 ZNF213 TRIM24 ATF7 C12orf40 KIF21A ABCD2 ENSG00000270273 GC12P039462
GH12J039585 Enhancer 0.6 dbSUPER 11.5 -38.1 -38070 5.7 CTCF ZNF654 TRIM22 REST EBF1 MEF2B RAD21 NR2F2 SMC3 C12orf40 KIF21A ENSG00000270273 ABCD2 GC12P039462
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C12orf40 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C12orf40 gene promoter:
  • POU2F1a
  • POU2F1
  • HSF2
  • Chx10
  • Evi-1
  • c-Myb
  • COUP
  • COUP-TF1
  • HNF-4alpha1

Genomic Locations for C12orf40 Gene

Genomic Locations for C12orf40 Gene
282,134 bases
Plus strand
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

Gene Families for C12orf40 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 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

Clone Products

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

Localization for C12orf40 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 C12orf40 gene
Compartment Confidence
nucleus 3
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 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: Q86WS4-CL040_HUMAN ENSP00000317671 for C12orf40 Gene via IID STRING UniProtKB

Gene Ontology (GO) - Biological Process for C12orf40 Gene


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

Drugs & Compounds for C12orf40 Gene

No Compound Related Data Available

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:

Clone 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 CGAP 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

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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.44 (n)
C12orf40 34
  • 98 (a)
(Canis familiaris)
Mammalia C27H12orf40 33
  • 83.65 (n)
C12orf40 34
  • 71 (a)
(Bos Taurus)
Mammalia C5H12orf40 33
  • 82.58 (n)
C12orf40 34
  • 65 (a)
(Rattus norvegicus)
Mammalia LOC690142 33
  • 71.14 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 64 (a)
-- 34
  • 35 (a)
(Monodelphis domestica)
Mammalia C12orf40 34
  • 57 (a)
(Mus musculus)
Mammalia CN725425 34
  • 53 (a)
(Gallus gallus)
Aves C1H12orf40 33
  • 51.43 (n)
C12orf40 34
  • 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 Variation AA Info Type
rs1000004057 -- 39,669,226(+) G/A intron_variant
rs1000014078 -- 39,670,734(+) T/G intron_variant
rs1000014302 -- 39,725,721(+) T/C genic_downstream_transcript_variant, intron_variant
rs1000015162 -- 39,870,238(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000035212 -- 39,669,439(+) C/T 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)

Additional Variant Information 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

Additional Disease Information for C12orf40

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 (Nature genetics 2004) 3 4 58
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
  4. The finished DNA sequence of human chromosome 12. (PMID: 16541075) Scherer SE … Baylor College of Medicine Human Genome Sequencing Center Sequence Production Team (Nature 2006) 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) 4 58

Products for C12orf40 Gene

Sources for C12orf40 Gene

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