CCNQ

Protein identityUniProt · HPA

UniProt accession

Q8N1B3

Gene

CCNQ

Ensembl

ENSG00000262919

Chromosome

X

Canonical length

248 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Cytosol

OverviewNCBI Gene

Mutations in this gene have been shown to cause an X-linked dominant STAR syndrome that typically manifests syndactyly, telecanthus and anogenital and renal malformations. The protein encoded by this gene contains a cyclin-box-fold domain which suggests it may have a role in controlling nuclear cell division cycles. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

Canonical amino-acid sequenceUniProt

248 residues, UniProt reviewed canonical sequence.

>Q8N1B3|CCNQ
     1  MEAPEGGGGG PAARGPEGQP APEARVHFRV ARFIMEAGVK LGMRSIPIAT ACTIYHKFFC
    61  ETNLDAYDPY LIAMSSIYLA GKVEEQHLRT RDIINVSNRY FNPSGEPLEL DSRFWELRDS
   121  IVQCELLMLR VLRFQVSFQH PHKYLLHYLV SLQNWLNRHS WQRTPVAVTA WALLRDSYHG
   181  ALCLRFQAQH IAVAVLYLAL QVYGVEVPAE VEAEKPWWQV FNDDLTKPII DNIVSDLIQI
   241  YTMDTEIP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CCNQ can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.31

Highest tissue expression

35 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CCNQ.

Disease | AllUniProt

Conditions CCNQ is implicated in, by any mechanism.

• Toe syndactyly, telecanthus, and anogenital and renal malformations (STAR) MIM:300707

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 103 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Syndactyly-telecanthus-anogenital and renal malformations syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.4

gnomAD pLI

0.9

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• regulation of cell cycle G2/M phase transition
• regulation of transcription by RNA polymerase II

Molecular functions

• cyclin-dependent protein serine/threonine kinase regulator activity

Cellular components

• cyclin-dependent protein kinase holoenzyme complex
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Cyclin, N-terminal
• Cyclin-like domain
• Cyclin-like superfamily
• Cyclin/Cyclin-like subunit Ssn8
• Cyclin, N-terminal domain
• Cyclin-T2-like, C-terminal domain
• Cyclin-Q, second cyclin box
• Cyclin-Q, first cyclin box

KeywordsUniProt

• Acetylation
• Cyclin

InteractionsUniProt · HPA

Protein binding partners of CCNQ in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• SALL1