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Aliases for C12orf57 Gene

Aliases for C12orf57 Gene

  • Chromosome 12 Open Reading Frame 57 2 3 5
  • C10 3 4
  • Likely Ortholog Of Mouse Gene Rich Cluster, C10 3
  • GRCC10 3

External Ids for C12orf57 Gene

Previous GeneCards Identifiers for C12orf57 Gene

  • GC12P006927
  • GC12P006929
  • GC12P006932
  • GC12P006934
  • GC12P006937
  • GC12P006939
  • GC12P007053
  • GC12P007057
  • GC12P007059
  • GC12P007062
  • GC12P007094
  • GC12P007117
  • GC12P007150
  • GC12P007022
  • GC12P007082

Summaries for C12orf57 Gene

Entrez Gene Summary for C12orf57 Gene

  • This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

GeneCards Summary for C12orf57 Gene

C12orf57 (Chromosome 12 Open Reading Frame 57) is a Protein Coding gene. Diseases associated with C12orf57 include temtamy syndrome and coloboma.

UniProtKB/Swiss-Prot for C12orf57 Gene

  • In brain, may be required for corpus callusum development.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C12orf57 Gene

Genomics for C12orf57 Gene

Regulatory Elements for C12orf57 Gene

Promoters for C12orf57 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around C12orf57 on UCSC Golden Path with GeneCards custom track

Genomic Location for C12orf57 Gene

Chromosome:
12
Start:
6,942,978 bp from pter
End:
6,946,003 bp from pter
Size:
3,026 bases
Orientation:
Plus strand

Genomic View for C12orf57 Gene

Genes around C12orf57 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C12orf57 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C12orf57 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C12orf57 Gene

Proteins for C12orf57 Gene

  • Protein details for C12orf57 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99622-C10_HUMAN
    Recommended name:
    Protein C10
    Protein Accession:
    Q99622
    Secondary Accessions:
    • B2R4Q6

    Protein attributes for C12orf57 Gene

    Size:
    126 amino acids
    Molecular mass:
    13178 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C12orf57 Gene

Proteomics data for C12orf57 Gene at MOPED

Post-translational modifications for C12orf57 Gene

  • Ubiquitination at Lys 80 and Lys 86
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for C12orf57 Gene

Domains & Families for C12orf57 Gene

Protein Domains for C12orf57 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C12orf57 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99622

UniProtKB/Swiss-Prot:

C10_HUMAN :
  • Belongs to the UPF0456 family.
Family:
  • Belongs to the UPF0456 family.
genes like me logo Genes that share domains with C12orf57: view

No data available for Gene Families for C12orf57 Gene

Function for C12orf57 Gene

Molecular function for C12orf57 Gene

UniProtKB/Swiss-Prot Function:
In brain, may be required for corpus callusum development.

Phenotypes for C12orf57 Gene

genes like me logo Genes that share phenotypes with C12orf57: view

Human Phenotype Ontology for C12orf57 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for C12orf57 Gene

miRTarBase miRNAs that target C12orf57

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for C12orf57 Gene

Localization for C12orf57 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C12orf57 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C12orf57 Gene COMPARTMENTS Subcellular localization image for C12orf57 gene
Compartment Confidence
cytosol 2
extracellular 1
mitochondrion 1
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for C12orf57 Gene

Pathways & Interactions for C12orf57 Gene

SuperPathways for C12orf57 Gene

No Data Available

Interacting Proteins for C12orf57 Gene

Gene Ontology (GO) - Biological Process for C12orf57 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C12orf57 Gene

Drugs & Compounds for C12orf57 Gene

No Compound Related Data Available

Transcripts for C12orf57 Gene

mRNA/cDNA for C12orf57 Gene

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

Unigene Clusters for C12orf57 Gene

Chromosome 12 open reading frame 57:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C12orf57 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3a · 3b
SP1: - -
SP2:
SP3:

Relevant External Links for C12orf57 Gene

GeneLoc Exon Structure for
C12orf57
ECgene alternative splicing isoforms for
C12orf57

Expression for C12orf57 Gene

mRNA expression in normal human tissues for C12orf57 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for C12orf57 Gene

This gene is overexpressed in Breast (15.1) and Bone (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for C12orf57 Gene



SOURCE GeneReport for Unigene cluster for C12orf57 Gene Hs.405913

mRNA Expression by UniProt/SwissProt for C12orf57 Gene

Q99622-C10_HUMAN
Tissue specificity: Ubiquitously expressed, with higher expression in lung and fetal brain.
genes like me logo Genes that share expression patterns with C12orf57: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for C12orf57 Gene

Orthologs for C12orf57 Gene

This gene was present in the common ancestor of animals.

Orthologs for C12orf57 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia C5H12orf57 35
  • 89.97 (n)
  • 99.12 (a)
C5H12orf57 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C27H12orf57 35
  • 92.63 (n)
  • 99.12 (a)
C12orf57 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Grcc10 35
  • 88.62 (n)
  • 97.62 (a)
Grcc10 16
Grcc10 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C12H12orf57 35
  • 98.68 (n)
  • 100 (a)
C12orf57 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 89 (a)
OneToMany
-- 36
  • 94 (a)
OneToMany
chicken
(Gallus gallus)
Aves C12ORF57 35
  • 80.38 (n)
  • 85.48 (a)
C12ORF57 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C12orf57 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c12orf57 35
  • 60.3 (n)
  • 60.91 (a)
zebrafish
(Danio rerio)
Actinopterygii grcc10 35
  • 70.4 (n)
  • 75 (a)
wufc02g04 35
C20H12orf57 36
  • 72 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG15387 36
  • 31 (a)
OneToOne
Species with no ortholog for C12orf57:
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C12orf57 Gene

ENSEMBL:
Gene Tree for C12orf57 (if available)
TreeFam:
Gene Tree for C12orf57 (if available)

Paralogs for C12orf57 Gene

Pseudogenes.org Pseudogenes for C12orf57 Gene

genes like me logo Genes that share paralogs with C12orf57: view

No data available for Paralogs for C12orf57 Gene

Variants for C12orf57 Gene

Sequence variations from dbSNP and Humsavar for C12orf57 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_069774 Temtamy syndrome (TEMTYS)
rs11064472 -- 6,944,498(+) ATCCA(A/G)GCGTT nc-transcript-variant, reference, synonymous-codon, utr-variant-5-prime
rs139938808 -- 6,944,509(+) CTCCG(C/T)CCCGG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs142743155 -- 6,944,484(+) TCCTC(A/G)CGGAG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs146024802 -- 6,944,485(+) CCTCG(C/T)GGAGG nc-transcript-variant, reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for C12orf57 Gene

Variant ID Type Subtype PubMed ID
nsv898641 CNV Loss 21882294
nsv509453 CNV Insertion 20534489
esv5830 CNV Gain 19470904

Variation tolerance for C12orf57 Gene

Residual Variation Intolerance Score: 50.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.88; 18.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C12orf57 Gene

HapMap Linkage Disequilibrium report
C12orf57
Human Gene Mutation Database (HGMD)
C12orf57

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C12orf57 Gene

Disorders for C12orf57 Gene

MalaCards: The human disease database

(3) MalaCards diseases for C12orf57 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
temtamy syndrome
  • craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation
coloboma
  • coloboma of eye
colobomatous microphthalmia
  • mac
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

C10_HUMAN
  • Temtamy syndrome (TEMTYS) [MIM:218340]: A mental retardation/multiple congenital anomaly syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus. {ECO:0000269 PubMed:23453665, ECO:0000269 PubMed:23453666, ECO:0000269 PubMed:23633300}. Note=The disease is caused by mutations affecting the gene represented in this entry. A variant resulting in a GUG start codon may be able to produce some protein because of a consensus Kozak sequence, although less efficiently than the wild type. This would explain the phenotypic variability observed.

Relevant External Links for C12orf57

Human Genome Epidemiology (HuGE) Navigator
C12orf57
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C12orf57
genes like me logo Genes that share disorders with C12orf57: view

No data available for Genatlas for C12orf57 Gene

Publications for C12orf57 Gene

  1. Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia. (PMID: 23453665) Zahrani F. … Alkuraya F.S. (Am. J. Hum. Genet. 2013) 2 3 4 67
  2. Comparative sequence analysis of a gene-rich cluster at human chromosome 12p13 and its syntenic region in mouse chromosome 6. (PMID: 9445485) Ansari-Lari M.A. … Gibbs R.A. (Genome Res. 1998) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures. (PMID: 24798461) Platzer K. … Kaiser F.J. (Am. J. Med. Genet. A 2014) 3

Products for C12orf57 Gene

Sources for C12orf57 Gene

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