CILK1 (ciliogenesis associated kinase 1)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
22858
Gene name Gene Name - the full gene name approved by the HGNC.
Ciliogenesis associated kinase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CILK1
Synonyms (NCBI Gene) Gene synonyms aliases
ECO, EJM10, ICK, LCK2, MRK, hICK
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ECO, EJM10
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p12.1
Summary Summary of gene provided in NCBI Entrez Gene.
Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harbor
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(8)
SNP ID Visualize variation Clinical significance Consequence
rs55932059 C>A,G,T Risk-factor Non coding transcript variant, coding sequence variant, missense variant
rs118203918 C>T Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs376111440 G>A,T Risk-factor Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs765078446 T>G Risk-factor Coding sequence variant, missense variant, non coding transcript variant
rs772883200 G>A,C Likely-pathogenic Coding sequence variant, stop gained, missense variant, non coding transcript variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(31)
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade IEA
GO:0000287 Function Magnesium ion binding IDA 10699974
GO:0001650 Component Fibrillar center IDA
GO:0004672 Function Protein kinase activity IDA 19185282
GO:0004674 Function Protein serine/threonine kinase activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
612325 21219 ENSG00000112144
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9UPZ9
Protein name Serine/threonine-protein kinase ICK (EC 2.7.11.1) (Ciliogenesis associated kinase 1) (Intestinal cell kinase) (hICK) (Laryngeal cancer kinase 2) (LCK2) (MAK-related kinase) (MRK)
Protein function Required for ciliogenesis (PubMed:24797473). Phosphorylates KIF3A (By similarity). Involved in the control of ciliary length (PubMed:24853502). Regulates the ciliary localization of SHH pathway components as well as the localization of IFT compo
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 4 → 284 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, brain, placenta, pancreas, thymus, prostate, testis, ovary, small intestine and colon, with highest levels in placenta and testis. Not detected in spleen. Also expressed in many cancer cell lines. {ECO:0000269|PubMe
Sequence 
MNRYTTIRQLGDGTYGSVLLGRSIESGELIAIKKMKRKFYSWEECMNLREVKSLKKLNHA
NVVKLKEVIRENDHLYFIFEYMKENLYQLIKERNKLFPESAIRNIMYQILQGLAFIHKHG
FFHRDLKPENLLCMGPELVKIADFGLAREIRSKPPYTDYVSTRWYRAPEVLLRSTNYSSP
IDVWAVGCIMAEVYTLRPLFPGASEIDTIFKICQVLGTPKKTDWPEGYQLSSAMNFRWPQ
CVPNNLKTLIPNASSEAVQLLRDMLQWDPKKRPTASQALRYPYFQVGHPLGSTTQNLQDS
EKPQKGILEKAGPPPYIKPVPPAQPPAKPHTRISSRQHQASQPPLHLTYPYKAEVSRTDH
PSHLQEDKPSPLLFPSLHNKHPQSKITAGLEHKNGEIKPKSRRRWGLISRSTKDSDDWAD
LDDLDFSPSLSRIDLKNKKRQSDDTLCRFESVLDLKPSEPVGTGNSAPTQTSYQRRDTPT
LRSAAKQHYLKHSRYLPGISIRNGILSNPGKEFIPPNPWSSSGLSGKSSGTMSVISKVNS
VGSSSTSSSGLTGNYVPSFLKKEIGSAMQRVHLAPIPDPSPGYSSLKAMRPHPGRPFFHT
QPRSTPGLIPRPPAAQPVHGRTDWASKYASRR
Sequence length 632
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (11)
Causal
Disease term Disease name dbSNP ID References
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Endocrine-cerebroosteodysplasia Endocrine-cerebro-osteodysplasia syndrome, Endocrine-Cerebroosteodysplasia rs118203918, rs1157785470 24797473, 27069622, 19185282, 27466187, 29539279, 24853502
Febrile seizures Febrile Convulsions rs121909761, rs121909672, rs121909673, rs121909674, rs1561645243, rs267606837, rs796052510, rs1553553485, rs1554097890, rs1554101202, rs1554098226, rs765574676, rs1045493304
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Ambiguous genitalia Ambiguous Genitalia ClinVar
Myoclonic Epilepsy juvenile myoclonic epilepsy GenCC
Show/Hide Text Mining Associations (14)
Associations from Text Mining
Disease Name Relationship Type References
Autistic Disorder Associate 30879638
Coffin Lowry Syndrome Associate 9837815
Developmental Disabilities Associate 21980446
Diastrophic dysplasia Associate 30879638
Endocrine Cerebroosteodysplasia Associate 21980446
Glioblastoma Associate 22552889
Language Development Disorders Associate 30879638
Lymphoma Large B Cell Diffuse Associate 8051045
Neoplasms Associate 22157150, 32033228
Osteogenesis Imperfecta Associate 2295701