Pericentrin

Alternative Names

  • PCNT
  • Kendrin
  • KEN
  • Pericentrin 2
  • Pericentrin B
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OMIM Number

605925

NCBI Gene ID

5116

Uniprot ID

O95613

Length

121,670 bases

No. of Exons

51

No. of isoforms

2

Protein Name

Pericentrin

Molecular Mass

378037Da

Amino Acid Count

3336

Genomic Location

chr21:46324100-46445769

Gene Map Locus
21q22.3

Description

PCNT gene encodes pericentrin, a protein expressed in centrosomes, which is a vital component of the pericentriolar material (PCM). It plays an important role in the formation of microtubule network, thereby, supporting normal progression of the cell cycle. Absence of pericentrin is known to result in disorganized mitotic spindles and missegregation of chromosomes.  Mutations in PCNT gene cause microcephalic osteodysplastic primordial dwarfism type II (MOPD II) and Seckel syndrome-4.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006031.5:c.1042G>TIraqNC_000021.9:g.46349021G>TUncertain SignificanceMicrocephalic Osteodysplastic Primordial Dwarfism, Type IING_008961.1:g.29900G>T; NM_006031.5:c.1042G>T; NP_006022.3:p.Glu348Ter
NM_006031.5:c.1336C>TOmanNC_000021.9:g.46349812C>TUncertain SignificanceMicrocephalic Osteodysplastic Primordial Dwarfism, Type IING_008961.1:g.30691C>T; NM_006031.5:c.1336C>T; NP_006022.3:p.Gln446Ter
NM_006031.5:c.5767C>TOmanNC_000021.9:g.46411840C>TLikely Pathogenic, PathogenicLikely PathogenicMicrocephalic Osteodysplastic Primordial Dwarfism, Type IING_008961.1:g.92719C>T; NM_006031.5:c.5767C>T; NP_006022.3:p.Arg1923Ter1194790624706
NM_006031.6:c.1519C>TEgyptNC_000021.9:g.46353166C>TPathogenicPathogenicMicrocephalic Osteodysplastic Primordial Dwarfism, Type IING_008961.2:g.34045C>T; NM_006031.6:c.1519C>T; NP_006022.3:p.Arg507Ter1380365241453798
NM_006031.6:c.196G>TSaudi ArabiaNC_000021.9:g.46326518G>TLikely Pathogenic, PathogenicLikely PathogenicMicrocephalic Osteodysplastic Primordial Dwarfism, Type IING_008961.2:g.7397G>T; NM_006031.6:c.196G>T; NP_006022.3:p.Gly66Ter587779355127247
NM_006031.6:c.2374C>TSaudi ArabiaNC_000021.9:g.46363699C>TLikely PathogenicPathogenicMicrocephalic Osteodysplastic Primordial Dwarfism, Type IING_008961.2:g.44578C>T; NM_006031.6:c.2374C>T; NP_006022.3:p.Arg792Ter151020551191168
NM_006031.6:c.2812C>TSaudi ArabiaNC_000021.9:g.46366786C>TLikely Pathogenic, PathogenicMicrocephalic Osteodysplastic Primordial Dwarfism, Type IING_008961.2:g.47665C>T; NM_006031.6:c.2812C>T; NP_006022.3:p.Gln938Ter
NM_006031.6:c.2984_2994delPalestineNC_000021.9:g.46366958_46366968delPathogenicLikely PathogenicMicrocephalic Osteodysplastic Primordial Dwarfism, Type IING_008961.2:g.47837_47847del; NM_006031.6:c.2984_2994del; NP_006022.3:p.Ala995GlyfsTer59587784302159580
NM_006031.6:c.4655C>AEgyptNC_000021.9:g.46399660C>APathogenicPathogenicMicrocephalic Osteodysplastic Primordial Dwarfism, Type IING_008961.2:g.80539C>A; NM_006031.6:c.4655C>A; NP_006022.3:p.Ser1552Ter9150282581323423
NM_006031.6:c.4976_4980delLebanonNC_000021.9:g.46402344_46402348delUncertain SignificanceMicrocephalic Osteodysplastic Primordial Dwarfism, Type IING_008961.2:g.83223_83227del; NM_006031.6:c.4976_4980del; NP_006022.3:p.Lys1659ThrfsTer8756170729
NM_006031.6:c.5767C>TSaudi ArabiaNC_000021.9:g.46411840C>TLikely Pathogenic, PathogenicPathogenicMicrocephalic Osteodysplastic Primordial Dwarfism, Type IING_008961.2:g.92719C>T; NM_006031.6:c.5767C>T; NP_006022.3:p.Arg1923Ter1194790624706
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