Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
8812
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Cyclin K |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
CCNK |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
CPR4, IDDHDF |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
IDDHDF |
Chromosome
Chromosome number
|
14 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
14q32.2 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene is a member of the transcription cyclin family. These cyclins may regulate transcription through their association with and activation of cyclin-dependent kinases (CDK) that phosphorylate the C-terminal domain (CTD) of the |
UniProt ID |
O75909
|
Protein name |
Cyclin-K |
Protein function |
Regulatory subunit of cyclin-dependent kinases that mediates activation of target kinases. Plays a role in transcriptional regulation via its role in regulating the phosphorylation of the C-terminal domain (CTD) of the large subunit of RNA polym |
PDB |
2I53
,
4CXA
,
4NST
,
4UN0
,
5ACB
,
5EFQ
,
6B3E
,
6CKX
,
6TD3
,
7NXJ
,
7NXK
,
8BU1
,
8BU2
,
8BU3
,
8BU4
,
8BU5
,
8BU6
,
8BU7
,
8BU9
,
8BUA
,
8BUB
,
8BUC
,
8BUD
,
8BUE
,
8BUF
,
8BUG
,
8BUH
,
8BUI
,
8BUJ
,
8BUK
,
8BUL
,
8BUM
,
8BUN
,
8BUO
,
8BUP
,
8BUQ
,
8BUR
,
8BUS
,
8BUT
,
8P81
,
9FMR
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00134
|
Cyclin_N |
23 → 156 |
Cyclin, N-terminal domain |
Domain |
PF02984
|
Cyclin_C |
159 → 291 |
Cyclin, C-terminal domain |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Widely expressed. Highest levels in testis. {ECO:0000269|PubMed:9632813}. |
Sequence |
|
Sequence length |
580 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Developmental delay |
Global developmental delay |
rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 View all (32 more) |
|
Intellectual developmental disorder with hypertelorism and distinctive facies |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES |
rs1566748800 |
30122539 |
Macrocephaly |
Macrocephaly |
rs786204854, rs764333096, rs1557739557 |
|
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Ataxia Telangiectasia |
Associate
|
20930849 |
Colorectal Neoplasms |
Associate
|
34289372 |
Glioblastoma |
Associate
|
11988847 |
HIV Infections |
Associate
|
30486834 |
Leukemia |
Associate
|
37535603 |
Leukemia Myeloid Acute |
Associate
|
24441149 |
Prostatic Neoplasms |
Associate
|
36129942 |
Prostatic Neoplasms Castration Resistant |
Associate
|
36129942 |
Sarcoma Kaposi |
Associate
|
12531804 |
|