CDKN2D cyclin dependent kinase inhibitor 2D [Homo sapiens (human)] - Gene

Summary

Official Symbol: CDKN2Dprovided by HGNC
Official Full Name: cyclin dependent kinase inhibitor 2Dprovided by HGNC
Primary source: HGNC:HGNC:1790
See related: Ensembl:ENSG00000129355 MIM:600927; AllianceGenome:HGNC:1790
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: p19; INK4D; p19-INK4D
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 form a stable complex 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. The abundance of the transcript of this gene was found to oscillate in a cell-cycle dependent manner with the lowest expression at mid G1 and a maximal expression during S phase. The negative regulation of the cell cycle involved in this protein was shown to participate in repressing neuronal proliferation, as well as spermatogenesis. Two alternatively spliced variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008]
Expression: Biased expression in bone marrow (RPKM 80.4), brain (RPKM 18.7) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (10566460..10568979, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (10692920..10695436, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (10677136..10679655, complement)

Chromosome 19 - NC_000019.10 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?

Deregulation of the p19/CDK4/CDK6 axis in Jak2[V617F] megakaryocytes accelerates the development of myelofibrosis.
Title: Deregulation of the p19/CDK4/CDK6 axis in Jak2(V617F) megakaryocytes accelerates the development of myelofibrosis.
Identification of <i>Cdk8</i> and <i>Cdkn2d</i> as New Prame-Target Genes in 2C-like Embryonic Stem Cells.
Title: Identification of Cdk8 and Cdkn2d as New Prame-Target Genes in 2C-like Embryonic Stem Cells.
p19(INK4d) inhibits proliferation and enhances imatinib efficacy through BCR-ABL signaling pathway in chronic myeloid leukemia.
Title: p19(INK4d) inhibits proliferation and enhances imatinib efficacy through BCR-ABL signaling pathway in chronic myeloid leukemia.
p19INK4d: More than Just a Cyclin-Dependent Kinase Inhibitor.
Title: p19INK4d: More than Just a Cyclin-Dependent Kinase Inhibitor.
he results support the concept that P19ink4d may play an important role in the pathogenesis and development of noise induced hearing loss.
Title: [The expression of P19ink4d in the pathogenesis and development of hearing loss].
p19(INK4d) plays an active role during human tooth development along with MSX1 and MSX2
Title: Regulation of proliferation in developing human tooth germs by MSX homeodomain proteins and cyclin-dependent kinase inhibitor p19(INK4d).
We unexpectedly found that p19INK4d plays an important role in human terminal erythropoiesis
Title: Unexpected role for p19INK4d in posttranscriptional regulation of GATA1 and modulation of human terminal erythropoiesis.
p19(INK4D) is one of the key mediators of miR-125b activity during the onset of megakaryocyte polyploidization.
Title: miR-125b modulates megakaryocyte maturation by targeting the cell-cycle inhibitor p19(INK4D).
p19 may play an important role in the ototoxic effects of cisplatin and is probably involved in the pathogenesis of hearing loss.
Title: Role of p19ink4d in the pathogenesis of hearing loss.
MiR-451 inhibited the proliferation of esophageal squamous cell carcinoma cells by targeting CDKN2D and MAP3K1 expression.
Title: MiR-451 inhibits proliferation of esophageal carcinoma cell line EC9706 by targeting CDKN2D and MAP3K1.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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

RH66593 (e-PCR)
- UniSTS:38748

PMC303366P8 (e-PCR)
- UniSTS:272515

CDKN2D_1963 (e-PCR)
- UniSTS:280494

RH18055 (e-PCR)
- UniSTS:48360

SHGC-35402 (e-PCR)
- UniSTS:45802

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	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA synthesis involved in DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in autophagic cell death	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell cycle G1/S phase transition	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	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of phosphorylation	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
involved_in response to UV	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to retinoic acid	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to vitamin D	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of cyclin D2-CDK4 complex	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay 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 D

Names: CDK inhibitor p19INK4d; cell cycle inhibitor, Nur77 associating protein; cyclin-dependent kinase 4 inhibitor D p19; cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4); inhibitor of cyclin-dependent kinase 4d

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_001800.4 → NP_001791.1 cyclin-dependent kinase 4 inhibitor D

See identical proteins and their annotated locations for NP_001791.1

Status: REVIEWED

Description

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

Source sequence(s)

AC011475

Consensus CDS

CCDS12244.1

UniProtKB/Swiss-Prot

P55273, Q13102, Q6FGE9

Related

ENSP00000377224.1, ENST00000393599.3

Conserved Domains (3) summary

COG0666
Location:16 → 131

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

sd00045
Location:41 → 71

ANK; ANK repeat [structural motif]

pfam12796
Location:79 → 158

Ank_2; Ankyrin repeats (3 copies)
NM_079421.3 → NP_524145.1 cyclin-dependent kinase 4 inhibitor D

See identical proteins and their annotated locations for NP_524145.1

Status: REVIEWED

Description

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

Source sequence(s)

AC011475

Consensus CDS

CCDS12244.1

UniProtKB/Swiss-Prot

P55273, Q13102, Q6FGE9

Related

ENSP00000337056.1, ENST00000335766.2

Conserved Domains (3) summary

COG0666
Location:16 → 131

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

sd00045
Location:41 → 71

ANK; ANK repeat [structural motif]

pfam12796
Location:79 → 158

Ank_2; Ankyrin repeats (3 copies)