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

Gene ID: 1032, updated on 5-Jan-2022

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
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
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Genomic context

See CDKN2D in Genome Data Viewer
Location:
19p13.2
Exon count:
2
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (10566460..10568979, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (10677136..10679655, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene autophagy related 4D cysteine peptidase Neighboring gene microRNA 1238 Neighboring gene KRI1 homolog Neighboring gene adaptor related protein complex 1 subunit mu 2 Neighboring gene LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 cell cycle IEA
Inferred from Electronic Annotation
more info
 
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 cyclin-dependent protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
Inferred from Mutant Phenotype
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
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

  1. NM_001800.4NP_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
    UniProtKB/TrEMBL
    A0A024R796
    Related
    ENSP00000377224.1, ENST00000393599.3
    Conserved Domains (3) summary
    COG0666
    Location:16131
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    sd00045
    Location:4171
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:79158
    Ank_2; Ankyrin repeats (3 copies)
  2. NM_079421.3NP_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
    UniProtKB/TrEMBL
    A0A024R796
    Related
    ENSP00000337056.1, ENST00000335766.2
    Conserved Domains (3) summary
    COG0666
    Location:16131
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    sd00045
    Location:4171
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:79158
    Ank_2; Ankyrin repeats (3 copies)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    10566460..10568979 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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