Format

Send to:

Choose Destination

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

Gene ID: 1032, updated on 9-Dec-2018

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

Genomic context

See CDKN2D in Genome Data Viewer
Location:
19p13.2
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (10566462..10568979, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (10677138..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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Cell cycle, organism-specific biosystem (from KEGG)
    Cell cycle, organism-specific biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
  • Cell cycle, conserved biosystem (from KEGG)
    Cell cycle, conserved biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
  • Cellular Senescence, organism-specific biosystem (from REACTOME)
    Cellular Senescence, organism-specific biosystemCellular senescence involves irreversible growth arrest accompanied by phenotypic changes such as enlarged morphology, reorganization of chromatin through formation of senescence-associated heterochr...
  • Cellular responses to stress, organism-specific biosystem (from REACTOME)
    Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
  • Cyclin D associated events in G1, organism-specific biosystem (from REACTOME)
    Cyclin D associated events in G1, organism-specific biosystemThree D-type cyclins are essential for progression from G1 to S-phase. These D cyclins bind to and activate both CDK4 and CDK6. The formation of all possible complexes between the D-type cyclins and...
  • FoxO signaling pathway, organism-specific biosystem (from KEGG)
    FoxO signaling pathway, organism-specific biosystemThe forkhead box O (FOXO) family of transcription factors regulates the expression of genes in cellular physiological events including apoptosis, cell-cycle control, glucose metabolism, oxidative str...
  • G1 Phase, organism-specific biosystem (from REACTOME)
    G1 Phase, organism-specific biosystemEarly cell cycle progression in G1 is under the control of the D-type cyclins together with Cdk4 and Cdk6. An important target for these CDKs is the Retinoblastoma (Rb) protein, which when phosphoryl...
  • G1 to S cell cycle control, organism-specific biosystem (from WikiPathways)
    G1 to S cell cycle control, organism-specific biosystemIn the G1 phase there are two types of DNA damage responses, the p53-dependent and the p53-independent pathways. The p53-dependent responses inhibit CDKs through the up-regulation of genes encoding C...
  • Mitotic G1-G1/S phases, organism-specific biosystem (from REACTOME)
    Mitotic G1-G1/S phases, organism-specific biosystem
    Mitotic G1-G1/S phases
  • Oncogene Induced Senescence, organism-specific biosystem (from REACTOME)
    Oncogene Induced Senescence, organism-specific biosystemOncogene-induced senescence is triggered by high level of RAS/RAF/MAPK signaling that can be caused, for example, by oncogenic mutations in RAS or RAF proteins, or by oncogenic mutations in growth fa...
  • Oxidative Stress Induced Senescence, organism-specific biosystem (from REACTOME)
    Oxidative Stress Induced Senescence, organism-specific biosystemOxidative stress, caused by increased concentration of reactive oxygen species (ROS) in the cell, can happen as a consequence of mitochondrial dysfunction induced by the oncogenic RAS (Moiseeva et al...
  • Senescence-Associated Secretory Phenotype (SASP), organism-specific biosystem (from REACTOME)
    Senescence-Associated Secretory Phenotype (SASP), organism-specific biosystemThe culture medium of senescent cells in enriched in secreted proteins when compared with the culture medium of quiescent i.e. presenescent cells and these secreted proteins constitute the so-called ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cyclin-dependent protein serine/threonine kinase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cyclin-dependent protein serine/threonine kinase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA synthesis involved in DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
G1/S transition of mitotic cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
autophagic cell death IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell cycle arrest IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell cycle G1/S phase transition IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell growth IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cyclin-dependent protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cyclin-dependent protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
response to UV IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to retinoic acid IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to vitamin D IMP
Inferred from Mutant Phenotype
more info
PubMed 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cyclin D2-CDK4 complex IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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_001800.3NP_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)
    BC001822, BI462387, U40343
    Consensus CDS
    CCDS12244.1
    UniProtKB/Swiss-Prot
    P55273
    UniProtKB/TrEMBL
    A0A024R796
    Related
    ENSP00000377224.1, ENST00000393599.2
    Conserved Domains (2) summary
    cd00204
    Location:36158
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:4171
    ANK; ANK repeat [structural motif]
  2. NM_079421.2NP_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)
    BC001822, BI669755
    Consensus CDS
    CCDS12244.1
    UniProtKB/Swiss-Prot
    P55273
    UniProtKB/TrEMBL
    A0A024R796
    Related
    ENSP00000337056.1, ENST00000335766.2
    Conserved Domains (2) summary
    cd00204
    Location:36158
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:4171
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    10566462..10568979 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center