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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

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

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

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