Chromosome 12 Open Reading Frame 57

Alternative Names

  • C12orf57
  • C10

Associated Diseases

Temtamy Syndrome
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OMIM Number

615140

NCBI Gene ID

113246

Uniprot ID

Q99622

Length

2,571 bases

No. of Exons

4

No. of isoforms

1

Protein Name

Protein C10

Molecular Mass

13178 Da

Amino Acid Count

126

Genomic Location

chr12:6,943,432-6,946,002

Gene Map Locus
12p13.31

Description

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 [From RefSeq].

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_138425.3:c.229+2T>COmanNC_000012.12:g.6944654T>CLikely Pathogenic, Uncertain SignificancePathogenicTemtamy SyndromeNG_034262.1:g.5838T>C; NM_138425.3:c.229+2T>C886041151279718
NM_138425.3:c.-3_2delinsGSaudi ArabiaNC_000012.12:g.6944119_6944123delinsGPathogenicTemtamy SyndromeNG_034262.1:g.5303_5307delinsG ; NM_138425.3:c.-3_2delinsG; NP_612434.1:p.Met1?
NM_138425.4:c.152T>ASaudi ArabiaNC_000012.12:g.6944575T>APathogenicPathogenicTemtamy SyndromeNG_034262.1:g.5759T>A; NM_138425.4:c.152T>A; NP_612434.1:p.Leu51Gln58777695541943
NM_138425.4:c.1A>GKuwait; Libya; Palesti...NC_000012.12:g.6944122A>GLikely Pathogenic, PathogenicLikely Pathogenic, PathogenicTemtamy SyndromeNG_034262.1:g.5306A>G ; NM_138425.4:c.1A>G; NP_612434.1:p.Met1?58777695441942
NM_138425.4:c.33G>CJordanNC_000012.12:g.6944154G>CUncertain SignificanceLikely PathogenicTemtamy SyndromeNG_034262.1:g.5338G>C; NM_138425.4:c.33G>C; NP_612434.1:p.Leu11Phe7821682131017217
NM_138425.4:c.43C>TOmanNC_000012.12:g.6944164C>TPathogenicPathogenicTemtamy SyndromeNG_034262.1:g.5348C>T; NM_138425.4:c.43C>T; NP_612434.1:p.Gln15Ter1565574197620193
NM_138425.4:c.53-2A>GSaudi ArabiaNC_000012.12:g.6944474A>GPathogenicLikely Pathogenic, PathogenicTemtamy SyndromeNG_034262.1:g.5658A>G; NM_138425.4:c.53-2A>G1114167293242885
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