Nuclear factor of Activated T-cells, Cytoplasmic, Calcineurin-Dependent 1

Alternative Names

  • NFATC1
  • NFAT Transcription Complex, Cytosolic Component
  • NFATC
  • NFAT2
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OMIM Number

600489

NCBI Gene ID

4772

Uniprot ID

O95644

Length

133,554 bases

No. of Exons

11

No. of isoforms

10

Protein Name

Nuclear factor of Activated T-cells, Cytoplasmic 1

Molecular Mass

101243 Da

Amino Acid Count

943

Genomic Location

chr18:79,395,772-79,529,325

Gene Map Locus
18q23

Description

The NFATC1 gene encodes a component of a DNA-binding transcription complex. This complex plays a key role in the immune response by inducing the expression of cytokine genes in T cells. It is also involved in the regulation of vascular smooth muscle cell differentiation. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006162.4:c.197C>TLebanonchr18:79410472Likely PathogenicTricuspid atresiaNG_029226.1:g.19701C>T; NM_006162.4:c.197C>T; NP_006153.2:p.Pro66Gln148104245
NM_172390.2:c.2101A>CLebanonNC_000018.10:g.79467591A>CLikely BenignLikely PathogenicTricuspid atresiaNG_029226.1:g.76820A>C; NM_172390.2:c.2101A>C; NP_765978.1:p.Ile701Leu1137360991602470
NM_172390.3:c.704G>ALebanonchr18:79410979Likely PathogenicHeterotaxy, Visceral, 1, X-LinkedNG_029226.1:g.20208G>A; NM_172390.3:c.704G>A; NP_765975.1:p.Arg222Gln1390597692

Other Reports

Lebanon

Yehya et al. 2006 indicated that NFATC1 might be a ventricular septal defect (VSD) susceptibility gene. A 44kb duplication in intron-6 was identified more among patients with symptoms of cardiovascular disease, including pulmonary stenosis (PS), tricuspid atresia (TA), and VSD. Notably, among 81 healthy patients, no one exhibited homozygosity for this duplication; two patients with VSD exhibited homozygosity. Three other related asymptomatic patietns also exhibited homozygosity. Heterozygous individuals included 34 unaffecteds, 15 with PS, 8 with TA, 9 with VSD, and 30 asymptomatic relatives. Homozygous individuals lacking the duplication involved 47 unaffecteds, 10 with PS, 4 with TA, 10 with VSD, and 33 asymptomatic relatives. 

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