Centromeric Protein J

Alternative Names

  • CENPJ
  • Centrosomal P4.1-Associated Protein
  • CPAP
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OMIM Number

609279

NCBI Gene ID

55835

Uniprot ID

Q9HC77

Length

40,611 bases

No. of Exons

20

No. of isoforms

2

Protein Name

Centromere protein J

Molecular Mass

153000 Da

Amino Acid Count

1338

Genomic Location

chr13:24,882,278-24,922,888

Gene Map Locus
13q12.12-q12.13

Description

This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_018451.4:c.125_126delSaudi ArabiaNC_000013.11:g.24912901_24912902delLikely PathogenicMicrocephaly 6, Primary, Autosomal RecessiveNG_009165.2:g.15047_15048del; NM_018451.4:c.125_126del; NP_060921.3:p.Lys42ArgfsTer151441504335
NM_018451.4:c.3302-1G>CSaudi ArabiaNC_000013.11:g.24885671C>GPathogenicMicrocephaly 6, Primary, Autosomal RecessiveNG_009165.2:g.42277G>C; NM_018451.4:c.3302-1G>C86432165818417
NM_018451.5:c.133C>TSaudi ArabiaNC_000013.11:g.24912893G>ALikely PathogenicMicrocephaly 6, Primary, Autosomal RecessiveNG_009165.2:g.15055C>T; NM_018451.5:c.133C>T; NP_060921.3:p.Arg45Ter786205481191040
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