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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	150468
Gene name	Cytoskeleton associated protein 2 like
Gene symbol	CKAP2L
Synonyms (NCBI Gene)	-
Chromosome	2
Chromosome location	2q14.1
Summary	The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes

Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs35593767	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, intron variant, 5 prime UTR variant, non coding transcript variant
rs548949031	A>G	Pathogenic	Initiator codon variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs727502802	->T	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs727502803	->AA	Pathogenic	Intron variant, frameshift variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs727502804	T>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs727502805	TT>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs755184431	CT>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs778989224	GTTT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1553442237	ATTTACCATTTCCTTGATCTGTTAACTGCTGCTTTGTAGTTTTCAATTGCTCTATATTAAGTGACCCCACAGGTTTTCTTGACAGTTCTCCTGTTGTGGACGATCCAGCTTCACACTGTTGAAAACTCTTGCTAGAAGGCTTAGAGTATGGGTTAGAAGAAACACATTCTGAAGTCAGCCTTTTGCCCAGAAGTTTTGGTGGCTCCAACTTCGGCTTCTGGGACCCTGCAGTATTAGGTGGTCTGGGCTGGAGTT	Pathogenic	Splice acceptor variant, splice donor variant, non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1574326802	->A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant

190

Show/Hide all (190)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016097	hsa-miR-769-5p	Sequencing	20371350
MIRT016509	hsa-miR-193b-3p	Microarray	20304954
MIRT024751	hsa-miR-215-5p	Microarray	19074876
MIRT026525	hsa-miR-192-5p	Microarray	19074876
MIRT048215	hsa-miR-196a-5p	CLASH	23622248
MIRT715952	hsa-miR-1285-5p	HITS-CLIP	19536157
MIRT715951	hsa-miR-4729	HITS-CLIP	19536157
MIRT715950	hsa-miR-431-5p	HITS-CLIP	19536157
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT625136	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT625135	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT572346	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT572344	hsa-miR-3612	HITS-CLIP	23824327
MIRT572343	hsa-miR-650	HITS-CLIP	23824327
MIRT572342	hsa-miR-31-5p	HITS-CLIP	23824327
MIRT572339	hsa-miR-8055	HITS-CLIP	23824327
MIRT572338	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT572346	hsa-miR-153-5p	PAR-CLIP	20371350
MIRT572345	hsa-miR-873-3p	PAR-CLIP	20371350
MIRT572344	hsa-miR-3612	PAR-CLIP	20371350
MIRT572343	hsa-miR-650	PAR-CLIP	20371350
MIRT572342	hsa-miR-31-5p	PAR-CLIP	20371350
MIRT572340	hsa-miR-3672	PAR-CLIP	20371350
MIRT572341	hsa-miR-6864-3p	PAR-CLIP	20371350
MIRT572339	hsa-miR-8055	PAR-CLIP	20371350
MIRT572338	hsa-miR-129-5p	PAR-CLIP	20371350
MIRT570807	hsa-miR-3200-5p	PAR-CLIP	20371350
MIRT570806	hsa-miR-221-5p	PAR-CLIP	20371350
MIRT570805	hsa-miR-8073	PAR-CLIP	20371350
MIRT570804	hsa-miR-4649-3p	PAR-CLIP	20371350
MIRT570803	hsa-miR-7162-3p	PAR-CLIP	20371350
MIRT570802	hsa-miR-4720-5p	PAR-CLIP	20371350
MIRT570801	hsa-miR-4799-3p	PAR-CLIP	20371350
MIRT570800	hsa-miR-5588-5p	PAR-CLIP	20371350
MIRT570799	hsa-miR-3661	PAR-CLIP	20371350
MIRT570798	hsa-miR-631	PAR-CLIP	20371350
MIRT016097	hsa-miR-769-5p	PAR-CLIP	20371350
MIRT570797	hsa-miR-3150b-3p	PAR-CLIP	20371350
MIRT570796	hsa-miR-4784	PAR-CLIP	20371350
MIRT570795	hsa-miR-4689	PAR-CLIP	20371350
MIRT570794	hsa-miR-6858-5p	PAR-CLIP	20371350
MIRT572338	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT572340	hsa-miR-3672	HITS-CLIP	27418678
MIRT715950	hsa-miR-431-5p	HITS-CLIP	27418678
MIRT572341	hsa-miR-6864-3p	HITS-CLIP	27418678
MIRT572339	hsa-miR-8055	HITS-CLIP	27418678
MIRT572345	hsa-miR-873-3p	HITS-CLIP	27418678
MIRT715952	hsa-miR-1285-5p	HITS-CLIP	19536157
MIRT715951	hsa-miR-4729	HITS-CLIP	19536157
MIRT715950	hsa-miR-431-5p	HITS-CLIP	19536157
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT625136	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT625135	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT572346	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT572344	hsa-miR-3612	HITS-CLIP	23824327
MIRT572343	hsa-miR-650	HITS-CLIP	23824327
MIRT572342	hsa-miR-31-5p	HITS-CLIP	23824327
MIRT572339	hsa-miR-8055	HITS-CLIP	23824327
MIRT572338	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT572346	hsa-miR-153-5p	PAR-CLIP	20371350
MIRT572345	hsa-miR-873-3p	PAR-CLIP	20371350
MIRT572344	hsa-miR-3612	PAR-CLIP	20371350
MIRT572343	hsa-miR-650	PAR-CLIP	20371350
MIRT572342	hsa-miR-31-5p	PAR-CLIP	20371350
MIRT572340	hsa-miR-3672	PAR-CLIP	20371350
MIRT572341	hsa-miR-6864-3p	PAR-CLIP	20371350
MIRT572339	hsa-miR-8055	PAR-CLIP	20371350
MIRT572338	hsa-miR-129-5p	PAR-CLIP	20371350
MIRT570807	hsa-miR-3200-5p	PAR-CLIP	20371350
MIRT570806	hsa-miR-221-5p	PAR-CLIP	20371350
MIRT570805	hsa-miR-8073	PAR-CLIP	20371350
MIRT570804	hsa-miR-4649-3p	PAR-CLIP	20371350
MIRT570803	hsa-miR-7162-3p	PAR-CLIP	20371350
MIRT570802	hsa-miR-4720-5p	PAR-CLIP	20371350
MIRT570801	hsa-miR-4799-3p	PAR-CLIP	20371350
MIRT570800	hsa-miR-5588-5p	PAR-CLIP	20371350
MIRT570799	hsa-miR-3661	PAR-CLIP	20371350
MIRT570798	hsa-miR-631	PAR-CLIP	20371350
MIRT016097	hsa-miR-769-5p	PAR-CLIP	20371350
MIRT570797	hsa-miR-3150b-3p	PAR-CLIP	20371350
MIRT570796	hsa-miR-4784	PAR-CLIP	20371350
MIRT570795	hsa-miR-4689	PAR-CLIP	20371350
MIRT570794	hsa-miR-6858-5p	PAR-CLIP	20371350
MIRT894118	hsa-miR-1237	CLIP-seq
MIRT894119	hsa-miR-3163	CLIP-seq
MIRT894120	hsa-miR-3649	CLIP-seq
MIRT894121	hsa-miR-4265	CLIP-seq
MIRT894122	hsa-miR-4296	CLIP-seq
MIRT894123	hsa-miR-4322	CLIP-seq
MIRT894124	hsa-miR-4459	CLIP-seq
MIRT894125	hsa-miR-4648	CLIP-seq
MIRT894126	hsa-miR-4654	CLIP-seq
MIRT894127	hsa-miR-4714-3p	CLIP-seq
MIRT894128	hsa-miR-4762-3p	CLIP-seq
MIRT894129	hsa-miR-4769-5p	CLIP-seq
MIRT894130	hsa-miR-665	CLIP-seq
MIRT1965100	hsa-miR-3614-5p	CLIP-seq
MIRT1965101	hsa-miR-4520a-3p	CLIP-seq
MIRT1965102	hsa-miR-4520b-3p	CLIP-seq
MIRT1965103	hsa-miR-890	CLIP-seq
MIRT2201101	hsa-miR-1322	CLIP-seq
MIRT2678220	hsa-miR-1913	CLIP-seq
MIRT2678221	hsa-miR-324-3p	CLIP-seq
MIRT2678222	hsa-miR-331-3p	CLIP-seq
MIRT2678223	hsa-miR-4286	CLIP-seq
MIRT2678224	hsa-miR-4313	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0072686	Component	Mitotic spindle	IBA
GO:0072686	Component	Mitotic spindle	IDA

MIM	HGNC	e!Ensembl
616174	26877	ENSG00000169607

Q8IYA6

Protein name

Cytoskeleton-associated protein 2-like (Radial fiber and mitotic spindle protein) (Radmis)

Protein function

Microtubule-associated protein required for mitotic spindle formation and cell-cycle progression in neural progenitor cells.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15297	CKAP2_C	423 → 660	Cytoskeleton-associated protein 2 C-terminus	Family
PF15297	CKAP2_C	673 → 734	Cytoskeleton-associated protein 2 C-terminus	Family

Sequence

MVGPGPTAAAAVEERQRKLQEYLAAKGKLKSQNTKPYLKSKNNCQNQPPSKSTIRPKNDV
TNHVVLPVKPKRSISIKLQPRPPNTAGSQKPKLEPPKLLGKRLTSECVSSNPYSKPSSKS
FQQCEAGSSTTGELSRKPVGSLNIEQLKTTKQQLTDQGNGKCIDFMNNIHVENESLDNFL
KETNKENLLDILTEPERKPDPKLYTRSKPKTDSYNQTKNSLVPKQALGKSSVNSAVLKDR
VNKQFVGETQSRTFPVKSQQLSRGADLARPGVKPSRTVPSHFIRTLSKVQSSKKPVVKNI
KDIKVNRSQYERPNETKIRSYPVTEQRVKHTKPRTYPSLLQGEYNNRHPNIKQDQKSSQV
CIPQTSCVLQKSKAISQRPNLTVGRFNSAIPSTPSIRPNGTSGNKHNNNGFQQKAQTLDS
KLKKAVPQNHFLNKTAPKTQADVTTVNGTQTNPNIKKKATAEDRRKQLEEWQKSKGKTYK
RPPMELKTKRKVIKEMNISFWKSIEKEEEEKKAQLELSSKINNTLTECLNLIEGGVPSNE
ILNILSSIPEAEKFAKFWICKAKLLASKGTFDVIGLYEEAIKNGATPIQELRKVVLNILQ
DSNRTTEGITSDSLVAETSITSVEELAKKMESVKSCLSPKEREQVTATPRIAKAEQHNYP
GIKLQIGPIPRINGMPEVQDMKFITPVRRSSRIERAVSRYPEMLQEHDLVVASLDELLEV
EETKCFIFRRNEALPVTLGFQTPES

Sequence length

745

Interactions

View interactions

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Filippi syndrome	Pathogenic; Likely pathogenic	rs201984824, rs751000250, rs1361993950, rs2104884982, rs727502802, rs548949031, rs727502803, rs727502804, rs1553442237, rs727502805, rs2467067801, rs781603729, rs755184431, rs778989224, rs1680053234	RCV001730757 RCV006249758 RCV001714245 RCV001780787 RCV000149779 RCV000149780 RCV000149781 RCV000149782 RCV000149783 RCV000149784 RCV003314383 RCV003489705 RCV002481720 RCV000991366 RCV001264831
Hypogonadism	Pathogenic	rs751000250	RCV001541899
Intellectual disability	Pathogenic	rs751000250	RCV001541899

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs36046436	RCV005913352
CKAP2L-related disorder	Benign; Likely benign	rs36093393, rs145362538, rs566644127, rs142117171, rs745636964, rs141509802, rs767835982, rs34358218, rs115154628, rs74625166, rs147582835	RCV003976005 RCV003941227 RCV003958815 RCV003909097 RCV003964659 RCV003956987 RCV003969636 RCV003935963 RCV004758109 RCV003922977 RCV003958394
Clear cell carcinoma of kidney	Benign	rs36046436	RCV005913353
Familial cancer of breast	Benign	rs142117171	RCV005934734
Hepatocellular carcinoma	Benign	rs142117171, rs36046436	RCV005934735 RCV005913350
Malignant tumor of esophagus	Benign	rs36046436	RCV005913351
Uterine corpus endometrial carcinoma	Benign	rs36046436	RCV005913354

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adie Syndrome	Associate	38303513
Breast Neoplasms	Associate	31758680
Carcinoma Renal Cell	Associate	34699322
Colorectal Neoplasms	Associate	34308980
Filippi syndrome	Associate	34921061
Glioma	Associate	33375517
Glioma	Stimulate	34631884
Hepatolenticular Degeneration	Associate	38303513
Intellectual Disability	Associate	34921061
Lung Neoplasms	Associate	33375517
Lymphatic Metastasis	Associate	32130760
Microcephaly	Associate	34921061
Neoplasm Metastasis	Inhibit	37225919
Neoplasms	Associate	33375517, 34631884, 35715760
Neoplasms	Stimulate	37225919
Prostatic Neoplasms	Associate	32130760, 35715760
Syndactyly	Associate	34921061
Urinary Bladder Neoplasms	Associate	36529823

CKAP2L (cytoskeleton associated protein 2 like)