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Aliases for C12orf57 Gene

Aliases for C12orf57 Gene

  • Chromosome 12 Open Reading Frame 57 2 3
  • C10 3 4 6
  • Likely Ortholog Of Mouse Gene Rich Cluster, C10 3
  • Protein C10 3
  • GRCC10 3
  • TEMTYS 6

External Ids for C12orf57 Gene

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 colobomatous microphthalmia.

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

Genomic Location for C12orf57 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C12orf57 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C12orf57 Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys80 and Lys86

No data available for DME Specific Peptides for C12orf57 Gene

Domains for C12orf57 Gene

Protein Domains for C12orf57 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

C10_HUMAN
Family:
  • Belongs to the UPF0456 family.:
    • Q99622
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.

miRNA for C12orf57 Gene

miRTarBase miRNAs that target C12orf57

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for C12orf57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with C12orf57: view

Pathways 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 for C12orf57 Gene

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

Integrated Proteomics: protein expression 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 expressions with C12orf57: view

Orthologs for C12orf57 Gene

This gene was present in the common ancestor of animals.

Orthologs for C12orf57 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C12H12orf57 36
  • 98.68 (n)
  • 100 (a)
C12orf57 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C5H12orf57 36
  • 89.97 (n)
  • 99.12 (a)
C5H12orf57 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C12orf57 37
  • 97 (a)
OneToOne
C27H12orf57 36
  • 92.63 (n)
  • 99.12 (a)
mouse
(Mus musculus)
Mammalia Grcc10 36
  • 88.62 (n)
  • 97.62 (a)
Grcc10 16
Grcc10 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 89 (a)
OneToMany
-- 37
  • 94 (a)
OneToMany
chicken
(Gallus gallus)
Aves C12ORF57 36
  • 80.38 (n)
  • 85.48 (a)
C12ORF57 37
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C12orf57 37
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c12orf57 36
  • 60.3 (n)
  • 60.91 (a)
zebrafish
(Danio rerio)
Actinopterygii C20H12orf57 37
  • 72 (a)
OneToOne
grcc10 36
  • 70.4 (n)
  • 75 (a)
wufc02g04 36
fruit fly
(Drosophila melanogaster)
Insecta CG15387 37
  • 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 MAF
rs11064472 -- 6,944,498(+) ATCCA(A/G)GCGTT synonymous-codon, reference
rs139938808 -- 6,944,509(+) CTCCG(C/T)CCCGG reference, missense
rs142743155 -- 6,944,484(+) TCCTC(A/G)CGGAG missense, reference
rs146024802 -- 6,944,485(+) CCTCG(C/T)GGAGG reference, missense
rs147239540 -- 6,944,423(+) GCTGT(C/T)TGTTC intron-variant

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

Relevant External Links for C12orf57 Gene

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

Disorders for C12orf57 Gene

(1) OMIM Diseases for C12orf57 Gene (615140)

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

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
  2. Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. (PMID: 23453666) Akizu N. … Gleeson J.G. (Am. J. Hum. Genet. 2013) 3 4
  3. A newly recognized autosomal recessive syndrome affecting neurologic function and vision. (PMID: 23633300) Salih M.A. … Bosley T.M. (Am. J. Med. Genet. A 2013) 3 4
  4. Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination. (PMID: 9074930) Ansari-Lari M.A. … Gibbs R.A. (Genome Res. 1997) 3 4
  5. 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

Products for C12orf57 Gene

Sources for C12orf57 Gene

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