Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB

Gene Information

Gene Symbol

CDKL5

Aliases

CFAP247, EIEE2, ISSX, STK9

Entrez Gene ID

6792

Gene Name

Cyclin dependent kinase like 5

Chromosomal Location

Xp22.13

HGNC ID

11411

Summary

This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

RefSeq DNA

NG_008475.1

RefSeq mRNA

NM_003159.2, NM_001037343.1, NM_001323289.2

e!Ensembl

Gene	ENSG00000008086
Transcript	ENST00000379996, ENST00000623535, ENST00000674046, ENST00000635828, ENST00000637881, ENST00000379989, ENST00000624953, ENST00000623364, ENST00000624700, ENST00000463994, ENST00000636046, ENST00000623610, ENST00000673617
Protein	ENSP00000369332, ENSP00000485244, ENSP00000501174, ENSP00000490170, ENSP00000489879, ENSP00000369325, ENSP00000485625, ENSP00000485581, ENSP00000485359, ENSP00000485184,

SNPs

SNP	SNP ID	Associated disease	References
I72T	rs62641235	Precocious puberty	19396824

Gene Ontology (GO)

Show/Hide all(20 )

GO ID	Ontology	Function	Evidence	Reference
GO:0006468	Biological process	Protein phosphorylation	IBA	21873635
GO:0045773	Biological process	Positive regulation of axon extension	IBA	21873635
GO:0046777	Biological process	Protein autophosphorylation	IDA	16935860
GO:0050773	Biological process	Regulation of dendrite development	IBA	21873635
GO:0099175	Biological process	Regulation of postsynapse organization	IDA	22922712
GO:0099175	Biological process	Regulation of postsynapse organization	IMP	22922712
GO:1902017	Biological process	Regulation of cilium assembly	IMP	29420175
GO:0005634	Cellular component	Nucleus	IBA	21873635
GO:0005634	Cellular component	Nucleus	IDA	16935860
GO:0005813	Cellular component	Centrosome	IDA	29420175
GO:0032839	Cellular component	Dendrite cytoplasm	IBA	21873635
GO:0036064	Cellular component	Ciliary basal body	IDA	29420175
GO:0097542	Cellular component	Ciliary tip	IDA	29420175
GO:0098978	Cellular component	Glutamatergic synapse	IDA	22922712
GO:0098978	Cellular component	Glutamatergic synapse	IMP	22922712
GO:0004672	Molecular function	Protein kinase activity	IDA	16935860
GO:0004674	Molecular function	Protein serine/threonine kinase activity	TAS	9721213
GO:0005515	Molecular function	Protein binding	IPI	32296183
GO:0005524	Molecular function	ATP binding	IDA	16935860
GO:0016301	Molecular function	Kinase activity	IDA	15917271

Protein Information

Protein Name

Cyclin-dependent kinase-like 5, cyclin dependent kinase 5 transcript, serine/threonine kinase 9, serine/threonine-protein kinase 9

Function

Mediates phosphorylation of MECP2 (PubMed:15917271, PubMed:16935860). May regulate ciliogenesis (PubMed:29420175).

Refseq Proteins

NP_003150.1, NP_001032420.1, NP_001310218.1

UniProt

O76039

PDB

4BGQ,