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    C12orf57 chromosome 12 open reading frame 57 [ Homo sapiens (human) ]

    Gene ID: 113246, updated on 5-Mar-2024

    Summary

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    Official Symbol
    C12orf57provided by HGNC
    Official Full Name
    chromosome 12 open reading frame 57provided by HGNC
    Primary source
    HGNC:HGNC:29521
    See related
    Ensembl:ENSG00000111678 MIM:615140; AllianceGenome:HGNC:29521
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C10; GRCC10
    Summary
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 98.5), prostate (RPKM 39.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    12p13.31
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (6943433..6946003)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (6954599..6957169)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (7052596..7055166)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr12:7023548-7023738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:7024095-7024736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:7024737-7025376 Neighboring gene enolase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5891 Neighboring gene uncharacterized LOC124902868 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7033606-7034306 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7035007-7035706 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4193 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4194 Neighboring gene atrophin 1 Neighboring gene atrophin 1 repeat instability region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4195 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr12:7052993-7053572 and GRCh37_chr12:7053573-7054152 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7054402-7055012 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7055013-7055621 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4196 Neighboring gene RNA, U7 small nuclear 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:7059817-7060752 Neighboring gene protein tyrosine phosphatase non-receptor type 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7060753-7061686 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7061687-7062621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5898 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5899 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5900 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5901 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5902 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5903 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5908 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7069919-7070720 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7070721-7071520 Neighboring gene uncharacterized LOC105369634 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7071521-7072322

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndrome. Nerakh G, et al. Brain Dev, 2023 Oct. PMID 37451886
    2. Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities. Alrakaf L, et al. Am J Med Genet A, 2018 Mar. PMID 29383837
    3. 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. Platzer K, et al. Am J Med Genet A, 2014 Aug. PMID 24798461
    4. A newly recognized autosomal recessive syndrome affecting neurologic function and vision. Salih MA, et al. Am J Med Genet A, 2013 Jun. PMID 23633300
    5. Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. Akizu N, et al. Am J Hum Genet, 2013 Mar 7. PMID 23453666, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
      Title: 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.
    2. The findings strongly support the candidacy of C12orf57 as a gene that is mutated in a distinct syndromic form of colobomatous microphthalmia in humans.
      Title: Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Temtamy syndrome
    MedGen: C1857512 OMIM: 218340 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: ATN1

    Homology

    Clone Names

    • FLJ17308, FLJ23836

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in camera-type eye morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cognition IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in corpus callosum morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in post-embryonic development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in post-embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in psychomotor behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of skeletal muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in third ventricle development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    protein C10
    Names
    gene rich cluster C10
    likely ortholog of mouse gene rich cluster, C10

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_034262.1 RefSeqGene

      Range
      5206..7186
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001301834.1 → NP_001288763.1  protein C10 isoform 1

      See identical proteins and their annotated locations for NP_001288763.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and encodes the same isoform (1), compared to variant 1.
      Source sequence(s)
      BP318750, CB161655
      Consensus CDS
      CCDS8571.1
      UniProtKB/Swiss-Prot
      B2R4Q6, Q99622
      Related
      ENSP00000440602.1, ENST00000545581.5
      Conserved Domains (1) summary
      pfam14974
      Location:11 → 113
      P_C10; Protein C10

    2. NM_001301836.2 → NP_001288765.1  protein C10 isoform 2

      See identical proteins and their annotated locations for NP_001288765.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' exon, which results in an alternate AUG start codon, compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      BP318750, DB494917, U47924
      Related
      ENST00000542222.1
      Conserved Domains (1) summary
      pfam14974
      Location:6 → 100
      DUF4511; Domain of unknown function (DUF4511)

    3. NM_001301837.2 → NP_001288766.1  protein C10 isoform 3

      See identical proteins and their annotated locations for NP_001288766.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has an alternate splice site in the coding region but maintains the reading frame, compared to variant 1. The resulting isoform (3) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      BM687523, BM781587, BP318750
      Consensus CDS
      CCDS76515.1
      UniProtKB/TrEMBL
      F5GXW5
      Related
      ENSP00000440937.1, ENST00000537087.5
      Conserved Domains (1) summary
      pfam14974
      Location:11 → 84
      P_C10; Protein C10

    4. NM_001301838.2 → NP_001288767.1  protein C10 isoform 4

      See identical proteins and their annotated locations for NP_001288767.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has an alternate splice site in the 5' region, which results in translation initiation at a downstream AUG start codon, compared to variant 1. The resulting isoform (4) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      BE888740, BM781587, BP318750
      Consensus CDS
      CCDS76516.1
      UniProtKB/TrEMBL
      U3KQ85
      Related
      ENSP00000475635.1, ENST00000540506.2
      Conserved Domains (1) summary
      pfam14974
      Location:1 → 78
      P_C10; Protein C10

    5. NM_138425.4 → NP_612434.1  protein C10 isoform 1

      See identical proteins and their annotated locations for NP_612434.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is a predominant transcript and encodes the longest isoform (1). Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      BC009925, BM781587
      Consensus CDS
      CCDS8571.1
      UniProtKB/Swiss-Prot
      B2R4Q6, Q99622
      Related
      ENSP00000229281.5, ENST00000229281.6
      Conserved Domains (1) summary
      pfam14974
      Location:11 → 113
      P_C10; Protein C10

    RNA

    1. NR_126035.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AV751928, BM781587, BP318750

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      6943433..6946003
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      6954599..6957169
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99622.1 GenPept UniProtKB/Swiss-Prot:Q99622

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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