CDKN2C cyclin dependent kinase inhibitor 2C [Homo sapiens (human)] - Gene

Summary

Official Symbol: CDKN2Cprovided by HGNC
Official Full Name: cyclin dependent kinase inhibitor 2Cprovided by HGNC
Primary source: HGNC:HGNC:1789
See related: Ensembl:ENSG00000123080 MIM:603369; AllianceGenome:HGNC:1789
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: p18; INK4C; p18-INK4C
Summary: The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to interact with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. Ectopic expression of this gene was shown to suppress the growth of human cells in a manner that appears to correlate with the presence of a wild-type RB1 function. Studies in the knockout mice suggested the roles of this gene in regulating spermatogenesis, as well as in suppressing tumorigenesis. Two alternatively spliced transcript variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008]
Expression: Broad expression in fat (RPKM 34.6), ovary (RPKM 9.5) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p32.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (50968706..50974634)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (50848587..50854515)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (51434378..51440306)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CBX8 promotes lung adenocarcinoma growth and metastasis through transcriptional repression of CDKN2C and SCEL.
Title: CBX8 promotes lung adenocarcinoma growth and metastasis through transcriptional repression of CDKN2C and SCEL.
The Oncogenic Role of Cyclin-Dependent Kinase Inhibitor 2C in Lower-Grade Glioma.
Title: The Oncogenic Role of Cyclin-Dependent Kinase Inhibitor 2C in Lower-Grade Glioma.
p18INK4C and BRCA1 inhibit follicular cell proliferation and dedifferentiation in thyroid cancer.
Title: p18INK4C and BRCA1 inhibit follicular cell proliferation and dedifferentiation in thyroid cancer.
Novel germline variants of CDKN1B and CDKN2C identified during screening for familial primary hyperparathyroidism.
Title: Novel germline variants of CDKN1B and CDKN2C identified during screening for familial primary hyperparathyroidism.
CDKN2C expression in adipose tissue is reduced in type II diabetes and central obesity: impact on adipocyte differentiation and lipid storage?
Title: CDKN2C expression in adipose tissue is reduced in type II diabetes and central obesity: impact on adipocyte differentiation and lipid storage?
The distinct effects of P18 overexpression on different stages of hematopoiesis involve TGF-beta and NF-kappaB signaling.
Title: The distinct effects of P18 overexpression on different stages of hematopoiesis involve TGF-β and NF-κB signaling.
Downregulated miRNA-22-3p promotes the progression and leads to poor prognosis of hepatocellular carcinoma through targeting CDKN2C.
Title: Downregulated miRNA-22-3p promotes the progression and leads to poor prognosis of hepatocellular carcinoma through targeting CDKN2C.
miR-21-5p promotes cell proliferation and G1/S transition in melanoma by targeting CDKN2C.
Title: miR-21-5p promotes cell proliferation and G1/S transition in melanoma by targeting CDKN2C.
PRMT6 serves an oncogenic role in lung adenocarcinoma via regulating p18.
Title: PRMT6 serves an oncogenic role in lung adenocarcinoma via regulating p18.
MCL1 binding to the reverse BH3 motif of P18INK4C couples cell survival to cell proliferation.
Title: MCL1 binding to the reverse BH3 motif of P18INK4C couples cell survival to cell proliferation.

Submit: New GeneRIF Correction See all GeneRIFs (52)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5Lev19 (e-PCR)
- UniSTS:239712

RH93751 (e-PCR)
- UniSTS:84868

CDKN2C_15 (e-PCR)
- UniSTS:276175

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cyclin-dependent protein serine/threonine kinase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables cyclin-dependent protein serine/threonine kinase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell cycle	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in oligodendrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of G1/S transition of mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of G1/S transition of mitotic cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cyclin-dependent protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cyclin-dependent protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in stem cell proliferation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cyclin-dependent kinase 4 inhibitor C

Names: CDK6 inhibitor p18; cyclin-dependent inhibitor; cyclin-dependent kinase 6 inhibitor p18; cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4); p18-INK6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001262.3 → NP_001253.1 cyclin-dependent kinase 4 inhibitor C

See identical proteins and their annotated locations for NP_001253.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) contains a different 5' UTR region, and encodes an identical protein, when compared to variant 2.

Source sequence(s)

AL359977, AL590455

Consensus CDS

CCDS555.1

UniProtKB/Swiss-Prot

P42773, Q8TB83

UniProtKB/TrEMBL

D3DQ28, Q6ICV4

Related

ENSP00000379452.1, ENST00000396148.2

Conserved Domains (3) summary

sd00045
Location:37 → 67

ANK; ANK repeat [structural motif]

pfam13637
Location:103 → 156

Ank_4; Ankyrin repeats (many copies)

pfam12796
Location:46 → 127

Ank_2; Ankyrin repeats (3 copies)
NM_078626.3 → NP_523240.1 cyclin-dependent kinase 4 inhibitor C

See identical proteins and their annotated locations for NP_523240.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains a different 5' UTR region, and encodes an identical protein, when compared to variant 1.

Source sequence(s)

BE783451, BE831176, U17074

Consensus CDS

CCDS555.1

UniProtKB/Swiss-Prot

P42773, Q8TB83

UniProtKB/TrEMBL

D3DQ28, Q6ICV4

Related

ENSP00000360826.3, ENST00000371761.4

Conserved Domains (3) summary

sd00045
Location:37 → 67

ANK; ANK repeat [structural motif]

pfam13637
Location:103 → 156

Ank_4; Ankyrin repeats (many copies)

pfam12796
Location:46 → 127

Ank_2; Ankyrin repeats (3 copies)