Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6792
Gene name Gene Name - the full gene name approved by the HGNC.	Cyclin dependent kinase like 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CDKL5
Synonyms (NCBI Gene) Gene synonyms aliases	CFAP247, DEE2, EIEE2, ISSX, STK9
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xp22.13
Summary Summary of gene provided in NCBI Entrez Gene.	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs17857094	C>T	Pathogenic	Coding sequence variant, stop gained
rs61749700	A>T	Pathogenic	Coding sequence variant, missense variant
rs61749704	C>T	Pathogenic	Coding sequence variant, missense variant
rs61750250	TTGGACCCAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs61753251	CT>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs62641235	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs62643608	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs62643614	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs62653623	C>T	Pathogenic	Coding sequence variant, stop gained
rs122460157	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs122460158	C>T	Pathogenic	Coding sequence variant, stop gained
rs122460159	C>T	Pathogenic	Coding sequence variant, missense variant
rs138125282	C>G,T	Likely-benign, likely-pathogenic	Coding sequence variant, synonymous variant
rs140332992	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Coding sequence variant, synonymous variant
rs267606713	C>T	Pathogenic	Missense variant, coding sequence variant
rs267606714	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs267606715	G>A,C	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs267608395	C>T	Pathogenic	Coding sequence variant, stop gained
rs267608415	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs267608418	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs267608419	T>-	Pathogenic, not-provided	Splice donor variant
rs267608420	->G	Pathogenic, not-provided	Coding sequence variant, splice acceptor variant
rs267608421	G>T	Pathogenic, likely-pathogenic, not-provided	Splice donor variant
rs267608423	A>G	Pathogenic, not-provided	Splice acceptor variant
rs267608429	A>G	Pathogenic	Missense variant, coding sequence variant
rs267608430	T>C	Pathogenic, not-provided	Splice donor variant
rs267608433	GAAA>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs267608435	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs267608437	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs267608441	GAAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs267608453	C>T	Pathogenic	Coding sequence variant, stop gained
rs267608468	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs267608472	C>T	Pathogenic	Coding sequence variant, stop gained
rs267608474	G>A,T	Not-provided, pathogenic	Splice acceptor variant
rs267608477	T>A,G	Pathogenic	Coding sequence variant, stop gained
rs267608479	G>A	Pathogenic, not-provided	Splice donor variant
rs267608480	A>G	Pathogenic, not-provided	Splice acceptor variant
rs267608490	C>A,T	Pathogenic, likely-benign	Synonymous variant, coding sequence variant, stop gained
rs267608493	C>A,T	Likely-pathogenic, pathogenic	Synonymous variant, missense variant, coding sequence variant
rs267608497	->A	Pathogenic	Frameshift variant, coding sequence variant
rs267608500	A>G	Pathogenic	Missense variant, coding sequence variant
rs267608501	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs267608505	G>T	Pathogenic	Coding sequence variant, stop gained
rs267608511	T>C	Pathogenic	Missense variant, coding sequence variant
rs267608515	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs267608528	TA>-	Pathogenic	Frameshift variant, coding sequence variant
rs267608532	A>C	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs267608537	->A	Pathogenic	Frameshift variant, coding sequence variant
rs267608542	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs267608546	->GA	Pathogenic	Frameshift variant, coding sequence variant
rs267608552	->A	Pathogenic	Frameshift variant, coding sequence variant
rs267608553	A>G	Pathogenic, not-provided	Splice acceptor variant
rs267608561	C>T	Pathogenic	Coding sequence variant, stop gained
rs267608565	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs267608566	->C	Pathogenic	Frameshift variant, coding sequence variant
rs267608618	C>A,G	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs267608623	->C	Pathogenic	Frameshift variant, coding sequence variant
rs267608643	C>T	Pathogenic	Coding sequence variant, stop gained
rs267608644	G>T	Pathogenic	Coding sequence variant, stop gained
rs267608646	->TA	Pathogenic	Coding sequence variant, stop gained
rs267608647	C>T	Pathogenic	Coding sequence variant, stop gained
rs267608648	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs267608650	G>A	Pathogenic, not-provided	Splice acceptor variant
rs267608651	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs267608653	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs267608654	GAGA>-,GA	Pathogenic	Frameshift variant, coding sequence variant
rs267608655	AGAAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs267608656	G>A,C	Pathogenic, not-provided	Splice donor variant
rs267608657	G>A	Likely-pathogenic, not-provided	Intron variant
rs267608659	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs267608660	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs267608661	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs267608662	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs267608663	C>T	Pathogenic	Coding sequence variant, stop gained
rs587783071	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs587783072	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs587783073	G>T	Pathogenic	Stop gained, coding sequence variant
rs587783074	A>T	Pathogenic	Stop gained, coding sequence variant
rs587783075	T>G	Pathogenic	Splice donor variant
rs587783077	T>A	Pathogenic	Stop gained, coding sequence variant
rs587783078	T>G	Pathogenic	Missense variant, coding sequence variant
rs587783079	C>A	Likely-pathogenic	Intron variant
rs587783080	A>G	Pathogenic	Splice acceptor variant
rs587783081	C>T	Pathogenic	Missense variant, coding sequence variant
rs587783083	A>G	Pathogenic	Missense variant, coding sequence variant
rs587783084	T>A,C,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs587783085	A>C	Pathogenic	Missense variant, coding sequence variant
rs587783086	G>A	Pathogenic	Missense variant, coding sequence variant
rs587783087	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs587783088	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs587783089	C>T	Pathogenic	Stop gained, coding sequence variant
rs587783109	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783110	A>-	Pathogenic	Intron variant
rs587783111	ACTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783112	->C	Pathogenic	Frameshift variant, coding sequence variant
rs587783113	GAAAGCTCTCAAAGCAAAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783114	GGCCAA>-	Likely-benign, conflicting-interpretations-of-pathogenicity	Inframe deletion, coding sequence variant
rs587783115	->A	Pathogenic	Frameshift variant, coding sequence variant
rs587783116	->A	Pathogenic	Frameshift variant, coding sequence variant
rs587783117	->TT	Pathogenic	Frameshift variant, coding sequence variant
rs587783118	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783119	CA>-	Pathogenic	Stop gained, inframe indel, coding sequence variant
rs587783120	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783121	->A	Pathogenic	Frameshift variant, coding sequence variant
rs587783123	AGAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783124	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783125	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783126	->T	Pathogenic	Frameshift variant, coding sequence variant
rs587783130	G>A	Pathogenic	Missense variant, coding sequence variant
rs587783131	G>A	Pathogenic	Intron variant
rs587783145	C>G	Pathogenic	Stop gained, coding sequence variant
rs587783149	G>C	Pathogenic	Splice acceptor variant
rs587783151	C>T	Pathogenic	Stop gained, coding sequence variant
rs587783154	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs587783155	T>G	Pathogenic	Splice donor variant
rs587783158	C>T	Pathogenic	Stop gained, coding sequence variant
rs587783159	C>T	Pathogenic	Stop gained, coding sequence variant
rs587783398	GA>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783399	G>A	Pathogenic	Splice acceptor variant
rs587783401	->C	Pathogenic	Frameshift variant, coding sequence variant
rs587783405	C>T	Pathogenic	Stop gained, coding sequence variant
rs587783406	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs756986206	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs757402424	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs766511365	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs786204960	ATT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs786204962	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs786204963	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs786204964	GTCTCACCACAGATCTAACAGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs786204965	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs786204966	G>T	Pathogenic	Stop gained, coding sequence variant
rs786204967	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs786204968	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs786204969	C>T	Pathogenic	Stop gained, coding sequence variant
rs786204970	->A	Pathogenic	Frameshift variant, coding sequence variant
rs786204971	->T	Pathogenic	Frameshift variant, coding sequence variant
rs786204972	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs786204973	A>G	Pathogenic	Splice acceptor variant
rs786204974	->G	Pathogenic	Frameshift variant, coding sequence variant
rs786204975	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs786204976	G>A	Likely-pathogenic, pathogenic	Splice donor variant
rs786204977	GGAAAAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs786204978	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs786204979	A>G	Pathogenic	Splice acceptor variant
rs786204980	->A	Pathogenic	Frameshift variant, coding sequence variant
rs786204981	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs786204982	->AA	Pathogenic	Frameshift variant, coding sequence variant
rs786204983	TAGAATATGCT>-	Pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs786204984	G>A	Pathogenic	Splice donor variant
rs786204985	A>G	Pathogenic	Missense variant, coding sequence variant
rs786204986	G>A	Pathogenic	Splice acceptor variant
rs786204987	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs786204988	->GT	Pathogenic	Frameshift variant, coding sequence variant
rs786204989	G>T	Pathogenic	Missense variant, coding sequence variant
rs786204990	->TTTTA	Pathogenic	Frameshift variant, coding sequence variant
rs786204991	A>G	Pathogenic	Missense variant, coding sequence variant
rs786204992	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs794727063	ATAGGGCAAGGGATGGCAGCTAGAGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs794727064	C>G	Pathogenic	Stop gained, coding sequence variant
rs797044858	G>A	Pathogenic	Missense variant, coding sequence variant
rs863225065	C>T	Pathogenic	Stop gained, coding sequence variant
rs863225289	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs863225290	A>G	Pathogenic	Missense variant, coding sequence variant
rs875989880	->T	Pathogenic	Frameshift variant, coding sequence variant
rs875989950	T>A	Pathogenic	Stop gained, coding sequence variant
rs886041673	G>T	Pathogenic	Stop gained, coding sequence variant
rs886041764	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041872	G>T	Pathogenic	Stop gained, coding sequence variant
rs886042014	->A	Pathogenic	Frameshift variant, coding sequence variant
rs886042899	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs886043296	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs886043742	->AA	Pathogenic	Frameshift variant, coding sequence variant
rs886044424	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1057518203	C>T	Pathogenic	Coding sequence variant, stop gained
rs1057518759	->GC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057519541	C>T	Pathogenic	Coding sequence variant, stop gained
rs1057519542	->GACC	Pathogenic	Frameshift variant, coding sequence variant
rs1057521806	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524663	A>G	Pathogenic	Missense variant, coding sequence variant
rs1060501859	A>G	Likely-pathogenic	Splice acceptor variant
rs1060501860	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064793376	TT>-,T	Pathogenic	Frameshift variant, coding sequence variant
rs1064793381	AGTCTCAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064794734	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794919	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064795672	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796503	GTTCTGGAACCAACCACTCAAAAAGACAACCAGCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1085307470	C>G	Pathogenic	Coding sequence variant, stop gained
rs1085307934	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691376	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691926	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1189749755	A>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555940533	G>A	Pathogenic	Splice acceptor variant
rs1555940536	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555947847	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555949009	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555949011	TC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555949033	->ATTTC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555949041	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555949752	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1555949763	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555950066	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555950083	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs1555950455	A>G	Pathogenic	Splice acceptor variant
rs1555950465	->GCGA	Pathogenic	Frameshift variant, coding sequence variant
rs1555950468	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555950470	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555950486	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555950494	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555951141	G>TC	Pathogenic	Frameshift variant, coding sequence variant
rs1555951142	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555951146	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555951954	AAACCTTGCTGGAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555951958	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555951981	->AC	Pathogenic	Frameshift variant, coding sequence variant
rs1555951991	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555952015	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555952052	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555952063	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555952078	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555952101	ACCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555952163	CAGGT>A	Pathogenic	Coding sequence variant, splice donor variant
rs1555952732	G>A	Pathogenic	Splice donor variant
rs1555954074	C>A,G	Pathogenic	Stop gained, coding sequence variant
rs1555954078	AAGAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555954737	CCAAAGGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555954752	->CAGATCT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555955237	CAACAAACCAAAAATTCCTTCTCA>G	Pathogenic	Frameshift variant, coding sequence variant
rs1555955290	GA>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1555955296	C>T	Uncertain-significance, pathogenic	Intron variant, stop gained, coding sequence variant
rs1569213054	G>T	Pathogenic	Splice donor variant
rs1569213917	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1569215594	T>G	Pathogenic	Coding sequence variant, missense variant
rs1569215629	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569215645	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569215664	G>T	Pathogenic	Coding sequence variant, stop gained
rs1569218019	C>T	Pathogenic	Coding sequence variant, stop gained
rs1569219331	ACCTA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569219346	C>T	Pathogenic	Coding sequence variant, stop gained
rs1569219844	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569220754	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1569220925	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602232972	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1602263431	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1602269367	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1602271643	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1602271692	G>A	Pathogenic	Coding sequence variant, missense variant
rs1602271715	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602271718	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602274251	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602276166	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1602280455	->G	Likely-pathogenic	Coding sequence variant, splice donor variant
rs1602282692	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1602282699	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602282705	->CC	Pathogenic	Coding sequence variant, frameshift variant
rs1602286005	C>T	Pathogenic	Coding sequence variant, synonymous variant
rs1602286285	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602286391	->TAGGA	Pathogenic	Coding sequence variant, frameshift variant
rs1602286449	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602286792	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1602286899	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602292181	G>A	Pathogenic	Splice donor variant
rs1602295727	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602295779	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602298653	C>G	Pathogenic	Coding sequence variant, stop gained
rs1602300816	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1602300837	T>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant

Show/Hide all(1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT046657	hsa-miR-222-3p	CLASH	23622248

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
MECP2	Unknown	16330482
MEF2C	Unknown	20513142

Show/Hide all(45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001764	Process	Neuron migration	ISS
GO:0004672	Function	Protein kinase activity	IBA
GO:0004672	Function	Protein kinase activity	IDA	16935860
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	TAS	9721213
GO:0004693	Function	Cyclin-dependent protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	21653829, 28514442, 32296183, 33961781
GO:0005524	Function	ATP binding	IDA	16935860
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	16935860
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	29420175
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0016301	Function	Kinase activity	IDA	15917271
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0031267	Function	Small GTPase binding	ISS
GO:0032587	Component	Ruffle membrane	ISS
GO:0032839	Component	Dendrite cytoplasm	IBA
GO:0032839	Component	Dendrite cytoplasm	ISS
GO:0035022	Process	Positive regulation of Rac protein signal transduction	ISS
GO:0036064	Component	Ciliary basal body	IDA	29420175
GO:0042995	Component	Cell projection	IEA
GO:0044294	Component	Dendritic growth cone	ISS
GO:0045773	Process	Positive regulation of axon extension	IBA
GO:0045773	Process	Positive regulation of axon extension	ISS
GO:0050773	Process	Regulation of dendrite development	IBA
GO:0050773	Process	Regulation of dendrite development	ISS
GO:0050775	Process	Positive regulation of dendrite morphogenesis	ISS
GO:0050804	Process	Modulation of chemical synaptic transmission	IDA	22922712
GO:0050804	Process	Modulation of chemical synaptic transmission	IMP	22922712
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0097542	Component	Ciliary tip	IDA	29420175
GO:0098978	Component	Glutamatergic synapse	IDA	22922712
GO:0098978	Component	Glutamatergic synapse	IMP	22922712
GO:0099175	Process	Regulation of postsynapse organization	IDA	22922712
GO:0099175	Process	Regulation of postsynapse organization	IMP	22922712
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1902017	Process	Regulation of cilium assembly	IMP	29420175

MIM	HGNC	e!Ensembl
300203	11411	ENSG00000008086

Protein

UniProt ID

O76039

Protein name

Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Serine/threonine-protein kinase 9)

Protein function

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

PDB

4BGQ , 8CIE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	13 → 297	Protein kinase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, lung, kidney, prostate, ovary, placenta, pancreas and testis.; TISSUE SPECIFICITY: [Isoform 2]: Predominant transcript in brain. {ECO:0000269|PubMed:21748340}.

Sequence

MKIPNIGNVMNKFEILGVVGEGAYGVVLKCRHKETHEIVAIKKFKDSEENEEVKETTLRE
LKMLRTLKQENIVELKEAFRRRGKLYLVFEYVEKNMLELLEEMPNGVPPEKVKSYIYQLI
KAIHWCHKNDIVHRDIKPENLLISHNDVLKLCDFGFARNLSEGNNANYTEYVATRWYRSP
ELLLGAPYGKSVDMWSVGCILGELSDGQPLFPGESEIDQLFTIQKVLGPLPSEQMKLFYS
NPRFHGLRFPAVNHPQSLERRYLGILNSVLLDLMKNLLKLDPADRYLTEQCLNHPTFQTQ
RLLDRSPSRSAKRKPYHVESSTLSNRNQAGKSTALQSHHRSNSKDIQNLSVGLPRADEGL
PANESFLNGNLAGASLSPLHTKTYQASSQPGSTSKDLTNNNIPHLLSPKEAKSKTEFDFN
IDPKPSEGPGTKYLKSNSRSQQNRHSFMESSQSKAGTLQPNEKQSRHSYIDTIPQSSRSP
SYRTKAKSHGALSDSKSVSNLSEARAQIAEPSTSRYFPSSCLDLNSPTSPTPTRHSDTRT
LLSPSGRNNRNEGTLDSRRTTTRHSKTMEELKLPEHMDSSHSHSLSAPHESFSYGLGYTS
PFSSQQRPHRHSMYVTRDKVRAKGLDGSLSIGQGMAARANSLQLLSPQPGEQLPPEMTVA
RSSVKETSREGTSSFHTRQKSEGGVYHDPHSDDGTAPKENRHLYNDPVPRRVGSFYRVPS
PRPDNSFHENNVSTRVSSLPSESSSGTNHSKRQPAFDPWKSPENISHSEQLKEKEKQGFF
RSMKKKKKKSQTVPNSDSPDLLTLQKSIHSASTPSSRPKEWRPEKISDLQTQSQPLKSLR
KLLHLSSASNHPASSDPRFQPLTAQQTKNSFSEIRIHPLSQASGGSSNIRQEPAPKGRPA
LQLPGQMDPGWHVSSVTRSATEGPSYSEQLGAKSGPNGHPYNRTNRSRMPNLNDLKETAL

Sequence length

960

Interactions

View interactions

Show/Hide Causal Diseases (10)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
autism	Autism	rs62643608	N/A
Developmental And Epileptic Encephalopathy	Developmental and epileptic encephalopathy, 2, Developmental and epileptic encephalopathy, 4	rs267608479, rs267608661, rs267606715, rs863225066, rs267608421, rs267608493, rs1602269367, rs267608647, rs1555955290, rs587783398, rs122460157, rs267608420, rs1925705674, rs1925421198, rs267608662 View all (109 more)	N/A
Rett Syndrome	atypical rett syndrome, rett syndrome	rs267608430, rs786204968, rs267608643, rs786204986, rs267608650, rs786204969, rs267608493, rs122460157, rs786204970, rs786204988, rs61750250, rs786204972, rs267608395, rs62641235, rs61749700 View all (25 more)	N/A
West Syndrome	west syndrome	rs267608618, rs1555952078, rs267608421, rs1555954752, rs267606715	N/A
Angelman Syndrome	angelman syndrome	rs267608546	N/A
Epileptic encephalopathy	epileptic encephalopathy	rs1569219844, rs1057519542, rs267608501, rs786204967	N/A
Epileptic Encephalopathy	early infantile epileptic encephalopathy with suppression bursts	rs1555955296, rs1555951141	N/A
focal epilepsy	Focal epilepsy	rs1057519541	N/A
Mental retardation	intellectual disability	rs267608493	N/A
Nicolaides Baraitser Syndrome	nicolaides-baraitser syndrome	rs1569231336	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
infantile spasms	Infantile spasms	N/A	N/A	ClinVar
Infantile Spasms	infantile spasms	N/A	N/A	GenCC
Precocious puberty	precocious puberty	N/A	N/A	GenCC

Show/Hide Text Mining Associations (66)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abnormalities Drug Induced	Associate	22521361
Acute Kidney Injury	Associate	33044867
Angelman Syndrome	Associate	15499549, 19241098
Aphasia	Associate	31205075
Apnea	Associate	23151060
Autism Spectrum Disorder	Associate	32722525, 37490689
Autistic Disorder	Associate	16611748, 19241098, 22521361, 25315662, 27824329
Body Dysmorphic Disorders	Associate	26993267
Brain Diseases	Associate	18266744, 19780792, 21309761, 21750574, 21770923, 22872100, 23756444, 24564546, 25266480, 27187038, 29190809, 31313283, 32111237, 37490689, 37701975
Breast Neoplasms	Associate	35667653
CDKL5 deficiency disorder	Associate	21293276, 26006105, 29444904, 30266825, 32111237, 33714067, 33955715, 34605059, 35422141, 36202289, 37490689, 39738338
Chromosome Aberrations	Associate	22521361
Congenital Abnormalities	Associate	22872100
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	32168371
Developmental Disabilities	Associate	15499549, 21293276, 21770923, 22872100, 23583054, 26993267, 27171548, 27187038, 27343026, 31056551, 35422141, 37490689, 39201578
Diarrhea 5 With Tufting Enteropathy Congenital	Associate	33044867
Disease	Associate	30266825
Disorders of Excessive Somnolence	Associate	23151060
Drug Hypersensitivity	Associate	16611748
Drug Resistant Epilepsy	Associate	18266744, 27187038, 28103894
Dyspnea	Associate	33106377
Early Onset Glaucoma	Associate	40180227
Epilepsy	Associate	16611748, 18266744, 19241098, 19780792, 23583054, 28074849, 28837158, 29190809, 29261713, 31056551, 31925439, 32111237, 34605059, 37490689, 39541770, 40126049, 40180227 View all (2 more)
Epilepsy Absence	Associate	23283985
Epileptic Encephalopathy Early Infantile 3	Stimulate	36084525
Epileptic Encephalopathy Early Infantile 3	Associate	37482918, 37867425
Fetal Alcohol Spectrum Disorders	Associate	25315662
Glioblastoma	Associate	26956052
Glioma	Associate	31858726
Hand Injuries	Associate	23583054, 24564546
Head and Neck Neoplasms	Associate	24564546
Heart Arrest	Associate	12736870
Hyperkinesis	Associate	25315662
Infant Newborn Diseases	Associate	23756444
Infantile Epileptic Dyskinetic Encephalopathy	Associate	12736870, 28387369
Intellectual Disability	Associate	12736870, 15499549, 15689447, 16611748, 27187038, 31450582
Ischemia	Associate	33044867
Kidney Diseases	Associate	33044867
Kuskokwim disease	Associate	22872100, 31313283, 33436160, 33905871, 35415902, 38411242, 39201578
Language Development Disorders	Associate	25315662
Language Disorders	Associate	25315662
Learning Disabilities	Associate	25315662
Megalencephaly	Associate	25315662
Mitochondrial Diseases	Associate	33905871
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport	Associate	33905871
Muscle Hypotonia	Associate	27353517
Myoclonus	Associate	16611748
Neoplasms	Associate	21097718
Nervous System Diseases	Associate	25266480
Neurodegenerative Diseases	Associate	28837158, 31450582
Neurologic Manifestations	Associate	15499549
Osteoporosis	Associate	29924424
Pathological Conditions Anatomical	Associate	34605059
Psychomotor Disorders	Associate	24564546
Respiratory System Abnormalities	Associate	23151060
Rett Syndrome	Associate	15499549, 15689447, 16611748, 19241098, 19780792, 21293276, 21750574, 22415763, 22867051, 22872100, 22968132, 23151060, 23756444, 24564546, 24916645 View all (15 more)
Rhabdomyolysis	Associate	33044867
Seizures	Associate	15689447, 16611748, 18266744, 21293276, 21309761, 21750574, 21770923, 22867051, 22872100, 22968132, 23151060, 24564546, 26927095, 27187038, 29444904, 31450582, 31618474, 32111237 View all (3 more)
Sleep Apnea Syndromes	Associate	23151060
Sleep Wake Disorders	Associate	22872100, 23151060
Spasm	Associate	15689447, 21309761, 37583270
Spasms Infantile	Associate	12736870, 15499549, 15689447, 16611748, 18266744, 19780792, 22867051, 23756444, 24564546, 33951346, 36279597, 37583270
Speech Disorders	Associate	23583054
Spinal Curvatures	Associate	22872100
Stomach Neoplasms	Associate	21097718
Vision Disorders	Associate	35422141

CDKL5 (cyclin dependent kinase like 5)