CCNQ (cyclin Q)

2017-09-01  

Identity

HGNC
CCNQ
LOCATION
Xq28
LOCUSID
92002
ALIAS
CycM,FAM58A

Other Information

Locus ID:

NCBI: 92002
MIM: 300708
HGNC: 28434
Ensembl: ENSG00000262919

Variants:

dbSNP: 92002
ClinVar: 92002
TCGA: ENSG00000262919
COSMIC: CCNQ

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000262919ENST00000429336H7C3N1
ENSG00000262919ENST00000440428Q8N1B3
ENSG00000262919ENST00000482182K7EM37
ENSG00000262919ENST00000576892Q8N1B3
ENSG00000262919ENST00000614850A0A087X1W3
ENSG00000262919ENST00000614851A0A087X0G9
ENSG00000262919ENST00000620088A0A087WUL6
ENSG00000262919ENST00000621629A0A087WUL6
ENSG00000262919ENST00000621817A0A087WY98

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
182970692008Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.16
283225012017Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.3
268822092016Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome.2

Citation

Dessen P

CCNQ (cyclin Q)

Atlas Genet Cytogenet Oncol Haematol. 2017-09-01

Online version: http://atlasgeneticsoncology.org/gene/79048/ccnq