CIT (citron rho-interacting serine/threonine kinase)

Gene

• Entrez ID: 11113
• Gene name: Citron rho-interacting serine/threonine kinase
• Gene symbol: CIT
• Synonyms (NCBI Gene): CITK, CRIK, MCPH17, STK21
• Chromosome: 12
• Chromosome location: 12q24.23
• Summary: This gene encodes a serine/threonine-protein kinase that functions in cell division. Together with the kinesin KIF14, this protein localizes to the central spindle and midbody, and functions to promote efficient cytokinesis. This protein is involved in ce

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs771292782	T>-,TT	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs879253817	AAAGGATTCC>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs879255522	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs879255523	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs879255524	G>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs886037892	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs886037893	T>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs886037894	T>A,C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs886037895	T>A	Pathogenic	Genic upstream transcript variant, intron variant
rs1057520205	->G	Likely-pathogenic	5 prime UTR variant, coding sequence variant, intron variant, genic upstream transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024814	hsa-miR-215-5p	Microarray	19074876
MIRT026796	hsa-miR-192-5p	Microarray	19074876
MIRT048952	hsa-miR-92a-3p	CLASH	23622248
MIRT048374	hsa-miR-29b-3p	CLASH	23622248
MIRT040664	hsa-miR-92b-3p	CLASH	23622248
MIRT038779	hsa-miR-93-3p	CLASH	23622248
MIRT062676	hsa-miR-6835-3p	PAR-CLIP	22012620
MIRT527670	hsa-miR-154-5p	PAR-CLIP	22012620
MIRT527669	hsa-miR-6854-3p	PAR-CLIP	22012620
MIRT527668	hsa-miR-6715b-3p	PAR-CLIP	22012620
MIRT527667	hsa-miR-607	PAR-CLIP	22012620
MIRT441703	hsa-miR-3646	PAR-CLIP	22100165
MIRT441702	hsa-miR-1252-3p	PAR-CLIP	22100165
MIRT441701	hsa-miR-4499	PAR-CLIP	22100165
MIRT441700	hsa-miR-5009-3p	PAR-CLIP	22100165
MIRT441699	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT441698	hsa-miR-4480	PAR-CLIP	22100165
MIRT440942	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT440941	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT440942	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT727989	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT727990	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT727988	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT727987	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT727986	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT727985	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT440941	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT731754	hsa-miR-486-5p	ChIP-seq, Luciferase reporter assay, Next Generation Sequencing (NGS), pSILAC, qRT-PCR, Western blot	26183718
MIRT731754	hsa-miR-486-5p	ChIP-seq, Luciferase reporter assay, Next Generation Sequencing (NGS), pSILAC, qRT-PCR, Western blot	26183718
MIRT727985	hsa-miR-19b-3p	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), RNA-seq, qRT-PCR	32705161
MIRT062676	hsa-miR-6835-3p	PAR-CLIP	22012620
MIRT527670	hsa-miR-154-5p	PAR-CLIP	22012620
MIRT527669	hsa-miR-6854-3p	PAR-CLIP	22012620
MIRT527668	hsa-miR-6715b-3p	PAR-CLIP	22012620
MIRT527667	hsa-miR-607	PAR-CLIP	22012620
MIRT441703	hsa-miR-3646	PAR-CLIP	22100165
MIRT441702	hsa-miR-1252-3p	PAR-CLIP	22100165
MIRT441701	hsa-miR-4499	PAR-CLIP	22100165
MIRT441700	hsa-miR-5009-3p	PAR-CLIP	22100165
MIRT441699	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT441698	hsa-miR-4480	PAR-CLIP	22100165
MIRT893854	hsa-miR-1247	CLIP-seq
MIRT893855	hsa-miR-1285	CLIP-seq
MIRT893856	hsa-miR-154	CLIP-seq
MIRT893857	hsa-miR-1972	CLIP-seq
MIRT893858	hsa-miR-208a	CLIP-seq
MIRT893859	hsa-miR-208b	CLIP-seq
MIRT893860	hsa-miR-28-5p	CLIP-seq
MIRT893861	hsa-miR-296-5p	CLIP-seq
MIRT893862	hsa-miR-3121-5p	CLIP-seq
MIRT893863	hsa-miR-3139	CLIP-seq
MIRT893864	hsa-miR-3187-5p	CLIP-seq
MIRT893865	hsa-miR-324-5p	CLIP-seq
MIRT893866	hsa-miR-3617	CLIP-seq
MIRT893867	hsa-miR-3622a-3p	CLIP-seq
MIRT893868	hsa-miR-3622b-3p	CLIP-seq
MIRT893869	hsa-miR-370	CLIP-seq
MIRT893870	hsa-miR-378g	CLIP-seq
MIRT893871	hsa-miR-4313	CLIP-seq
MIRT893872	hsa-miR-4476	CLIP-seq
MIRT893873	hsa-miR-4486	CLIP-seq
MIRT893874	hsa-miR-4487	CLIP-seq
MIRT893875	hsa-miR-4533	CLIP-seq
MIRT893876	hsa-miR-4663	CLIP-seq
MIRT893877	hsa-miR-4746-3p	CLIP-seq
MIRT893878	hsa-miR-4783-3p	CLIP-seq
MIRT893879	hsa-miR-4795-5p	CLIP-seq
MIRT893880	hsa-miR-499-5p	CLIP-seq
MIRT893881	hsa-miR-612	CLIP-seq
MIRT893882	hsa-miR-641	CLIP-seq
MIRT893883	hsa-miR-708	CLIP-seq
MIRT893884	hsa-miR-106a	CLIP-seq
MIRT893885	hsa-miR-106b	CLIP-seq
MIRT893886	hsa-miR-1205	CLIP-seq
MIRT893887	hsa-miR-1257	CLIP-seq
MIRT893855	hsa-miR-1285	CLIP-seq
MIRT893888	hsa-miR-130a	CLIP-seq
MIRT893889	hsa-miR-130b	CLIP-seq
MIRT893890	hsa-miR-1321	CLIP-seq
MIRT893891	hsa-miR-143	CLIP-seq
MIRT893892	hsa-miR-146b-3p	CLIP-seq
MIRT893893	hsa-miR-17	CLIP-seq
MIRT893894	hsa-miR-181a	CLIP-seq
MIRT893895	hsa-miR-181b	CLIP-seq
MIRT893896	hsa-miR-181c	CLIP-seq
MIRT893897	hsa-miR-181d	CLIP-seq
MIRT893898	hsa-miR-1909	CLIP-seq
MIRT893899	hsa-miR-1913	CLIP-seq
MIRT893900	hsa-miR-1915	CLIP-seq
MIRT893901	hsa-miR-19a	CLIP-seq
MIRT893902	hsa-miR-19b	CLIP-seq
MIRT893903	hsa-miR-200b	CLIP-seq
MIRT893904	hsa-miR-200c	CLIP-seq
MIRT893905	hsa-miR-20a	CLIP-seq
MIRT893906	hsa-miR-20b	CLIP-seq
MIRT893861	hsa-miR-296-5p	CLIP-seq
MIRT893907	hsa-miR-301a	CLIP-seq
MIRT893908	hsa-miR-301b	CLIP-seq
MIRT893909	hsa-miR-3130-5p	CLIP-seq
MIRT893910	hsa-miR-3138	CLIP-seq
MIRT893911	hsa-miR-3144-5p	CLIP-seq
MIRT893912	hsa-miR-3168	CLIP-seq
MIRT893913	hsa-miR-3173-5p	CLIP-seq
MIRT893864	hsa-miR-3187-5p	CLIP-seq
MIRT893914	hsa-miR-3191	CLIP-seq
MIRT893915	hsa-miR-324-3p	CLIP-seq
MIRT893916	hsa-miR-3611	CLIP-seq
MIRT893917	hsa-miR-3619-3p	CLIP-seq
MIRT893867	hsa-miR-3622a-3p	CLIP-seq
MIRT893868	hsa-miR-3622b-3p	CLIP-seq
MIRT893918	hsa-miR-3666	CLIP-seq
MIRT893919	hsa-miR-3667-5p	CLIP-seq
MIRT893920	hsa-miR-3689d	CLIP-seq
MIRT893869	hsa-miR-370	CLIP-seq
MIRT893870	hsa-miR-378g	CLIP-seq
MIRT893921	hsa-miR-4262	CLIP-seq
MIRT893922	hsa-miR-4266	CLIP-seq
MIRT893923	hsa-miR-4269	CLIP-seq
MIRT893924	hsa-miR-4270	CLIP-seq
MIRT893925	hsa-miR-4276	CLIP-seq
MIRT893926	hsa-miR-429	CLIP-seq
MIRT893927	hsa-miR-4292	CLIP-seq
MIRT893928	hsa-miR-4295	CLIP-seq
MIRT893929	hsa-miR-4300	CLIP-seq
MIRT893930	hsa-miR-4311	CLIP-seq
MIRT893931	hsa-miR-4318	CLIP-seq
MIRT893932	hsa-miR-4418	CLIP-seq
MIRT893933	hsa-miR-4419a	CLIP-seq
MIRT893934	hsa-miR-4436b-3p	CLIP-seq
MIRT893935	hsa-miR-4441	CLIP-seq
MIRT893936	hsa-miR-4482	CLIP-seq
MIRT893873	hsa-miR-4486	CLIP-seq
MIRT893937	hsa-miR-4510	CLIP-seq
MIRT893938	hsa-miR-454	CLIP-seq
MIRT893939	hsa-miR-4652-5p	CLIP-seq
MIRT893876	hsa-miR-4663	CLIP-seq
MIRT893940	hsa-miR-4667-5p	CLIP-seq
MIRT893941	hsa-miR-4685-5p	CLIP-seq
MIRT893942	hsa-miR-4693-5p	CLIP-seq
MIRT893943	hsa-miR-4695-5p	CLIP-seq
MIRT893944	hsa-miR-4700-5p	CLIP-seq
MIRT893945	hsa-miR-4705	CLIP-seq
MIRT893946	hsa-miR-4728-5p	CLIP-seq
MIRT893947	hsa-miR-4739	CLIP-seq
MIRT893877	hsa-miR-4746-3p	CLIP-seq
MIRT893948	hsa-miR-4756-5p	CLIP-seq
MIRT893949	hsa-miR-4762-5p	CLIP-seq
MIRT893950	hsa-miR-4766-5p	CLIP-seq
MIRT893951	hsa-miR-4770	CLIP-seq
MIRT893952	hsa-miR-4776-5p	CLIP-seq
MIRT893953	hsa-miR-4779	CLIP-seq
MIRT893954	hsa-miR-4800-5p	CLIP-seq
MIRT893955	hsa-miR-488	CLIP-seq
MIRT893956	hsa-miR-495	CLIP-seq
MIRT893957	hsa-miR-509-3-5p	CLIP-seq
MIRT893958	hsa-miR-509-5p	CLIP-seq
MIRT893959	hsa-miR-518a-5p	CLIP-seq
MIRT893960	hsa-miR-519a	CLIP-seq
MIRT893961	hsa-miR-519b-3p	CLIP-seq
MIRT893962	hsa-miR-519c-3p	CLIP-seq
MIRT893963	hsa-miR-519d	CLIP-seq
MIRT893964	hsa-miR-520g	CLIP-seq
MIRT893965	hsa-miR-520h	CLIP-seq
MIRT893966	hsa-miR-527	CLIP-seq
MIRT893967	hsa-miR-561	CLIP-seq
MIRT893968	hsa-miR-610	CLIP-seq
MIRT893881	hsa-miR-612	CLIP-seq
MIRT893969	hsa-miR-660	CLIP-seq
MIRT893970	hsa-miR-758	CLIP-seq
MIRT893971	hsa-miR-802	CLIP-seq
MIRT893972	hsa-miR-874	CLIP-seq
MIRT893973	hsa-miR-892a	CLIP-seq
MIRT893974	hsa-miR-920	CLIP-seq
MIRT893975	hsa-miR-93	CLIP-seq
MIRT1965007	hsa-miR-1184	CLIP-seq
MIRT893886	hsa-miR-1205	CLIP-seq
MIRT1965008	hsa-miR-27a	CLIP-seq
MIRT1965009	hsa-miR-27b	CLIP-seq
MIRT1965010	hsa-miR-3065-5p	CLIP-seq
MIRT1965011	hsa-miR-3158-5p	CLIP-seq
MIRT1965012	hsa-miR-3187-3p	CLIP-seq
MIRT1965013	hsa-miR-3199	CLIP-seq
MIRT1965014	hsa-miR-338-5p	CLIP-seq
MIRT893916	hsa-miR-3611	CLIP-seq
MIRT893867	hsa-miR-3622a-3p	CLIP-seq
MIRT893868	hsa-miR-3622b-3p	CLIP-seq
MIRT1965015	hsa-miR-3688-5p	CLIP-seq
MIRT893920	hsa-miR-3689d	CLIP-seq
MIRT893869	hsa-miR-370	CLIP-seq
MIRT1965016	hsa-miR-3926	CLIP-seq
MIRT893932	hsa-miR-4418	CLIP-seq
MIRT1965017	hsa-miR-4435	CLIP-seq
MIRT1965018	hsa-miR-4470	CLIP-seq
MIRT1965019	hsa-miR-4633-5p	CLIP-seq
MIRT1965020	hsa-miR-4701-5p	CLIP-seq
MIRT1965021	hsa-miR-4704-5p	CLIP-seq
MIRT893877	hsa-miR-4746-3p	CLIP-seq
MIRT893957	hsa-miR-509-3-5p	CLIP-seq
MIRT893958	hsa-miR-509-5p	CLIP-seq
MIRT1965022	hsa-miR-532-5p	CLIP-seq
MIRT1965023	hsa-miR-548s	CLIP-seq
MIRT893967	hsa-miR-561	CLIP-seq
MIRT1965024	hsa-miR-588	CLIP-seq
MIRT1965007	hsa-miR-1184	CLIP-seq
MIRT893969	hsa-miR-660	CLIP-seq
MIRT2201055	hsa-miR-1207-5p	CLIP-seq
MIRT2201056	hsa-miR-1262	CLIP-seq
MIRT2201057	hsa-miR-1287	CLIP-seq
MIRT893857	hsa-miR-1972	CLIP-seq
MIRT893860	hsa-miR-28-5p	CLIP-seq
MIRT2201058	hsa-miR-3132	CLIP-seq
MIRT893863	hsa-miR-3139	CLIP-seq
MIRT2201059	hsa-miR-3677-3p	CLIP-seq
MIRT1965016	hsa-miR-3926	CLIP-seq
MIRT2201060	hsa-miR-4455	CLIP-seq
MIRT893874	hsa-miR-4487	CLIP-seq
MIRT893875	hsa-miR-4533	CLIP-seq
MIRT2201061	hsa-miR-4650-3p	CLIP-seq
MIRT2201062	hsa-miR-4701-3p	CLIP-seq
MIRT2201063	hsa-miR-4753-5p	CLIP-seq
MIRT2201064	hsa-miR-4763-3p	CLIP-seq
MIRT2201065	hsa-miR-4793-5p	CLIP-seq
MIRT2201066	hsa-miR-4797-5p	CLIP-seq
MIRT893954	hsa-miR-4800-5p	CLIP-seq
MIRT2201067	hsa-miR-548an	CLIP-seq
MIRT1965023	hsa-miR-548s	CLIP-seq
MIRT2201068	hsa-miR-609	CLIP-seq
MIRT893883	hsa-miR-708	CLIP-seq
MIRT2386109	hsa-miR-1299	CLIP-seq
MIRT893857	hsa-miR-1972	CLIP-seq
MIRT2386110	hsa-miR-3978	CLIP-seq
MIRT2386111	hsa-miR-4539	CLIP-seq
MIRT2386112	hsa-miR-4684-3p	CLIP-seq
MIRT2386113	hsa-miR-875-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000278	Process	Mitotic cell cycle	ISS	11086988
GO:0000281	Process	Mitotic cytokinesis	IEA
GO:0000281	Process	Mitotic cytokinesis	IMP	16236794, 27453578
GO:0001223	Function	Transcription coactivator binding	IPI	30865227
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	ISS	9792683
GO:0005515	Function	Protein binding	IPI	16431929
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	30865227
GO:0005829	Component	Cytosol	TAS
GO:0007399	Process	Nervous system development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0017124	Function	SH3 domain binding	IEA
GO:0019901	Function	Protein kinase binding	IPI	30865227
GO:0030154	Process	Cell differentiation	IEA
GO:0030165	Function	PDZ domain binding	IDA	17474715
GO:0030291	Function	Protein serine/threonine kinase inhibitor activity	IDA	30865227
GO:0032467	Process	Positive regulation of cytokinesis	IMP	16431929
GO:0032956	Process	Regulation of actin cytoskeleton organization	IBA
GO:0035331	Process	Negative regulation of hippo signaling	IMP	30865227
GO:0046872	Function	Metal ion binding	IEA
GO:0048699	Process	Generation of neurons	ISS	11086988
GO:0051301	Process	Cell division	IEA
GO:0051402	Process	Neuron apoptotic process	IMP	27453578
GO:0097110	Function	Scaffold protein binding	IDA	17474715
GO:0106310	Function	Protein serine kinase activity	IEA

Other IDs

• MIM: 605629
• HGNC: 1985
• e!Ensembl: ENSG00000122966

Protein

• UniProt ID: O14578
• Protein name: Citron Rho-interacting kinase (CRIK) (EC 2.7.11.1) (Serine/threonine-protein kinase 21)
• Protein function: Plays a role in cytokinesis. Required for KIF14 localization to the central spindle and midbody. Putative RHO/RAC effector that binds to the GTP-bound forms of RHO and RAC1. It probably binds p21 with a tighter specificity in vivo. Displays seri
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	97 → 360	Protein kinase domain	Domain
  PF00169	PH	1444 → 1563	PH domain	Domain
  PF00780	CNH	1597 → 1863	CNH domain	Family

• Sequence:

  MLKFKYGARNPLDAGAAEPIASRASRLNLFFQGKPPFMTQQQMSPLSREGILDALFVLFE
  ECSQPALMKIKHVSNFVRKYSDTIAELQELQPSAKDFEVRSLVGCGHFAEVQVVREKATG
  DIYAMKVMKKKALLAQEQVSFFEEERNILSRSTSPWIPQLQYAFQDKNHLYLVMEYQPGG
  DLLSLLNRYEDQLDENLIQFYLAELILAVHSVHLMGYVHRDIKPENILVDRTGHIKLVDF
  GSAAKMNSNKMVNAKLPIGTPDYMAPEVLTVMNGDGKGTYGLDCDWWSVGVIAYEMIYGR
  SPFAEGTSARTFNNIMNFQRFLKFPDDPKVSSDFLDLIQSLLCGQKERLKFEGLCCHPFF
  SKIDWNNIRNSPPPFVPTLKSDDDTSNFDEPEKNSWVSSSPCQLSPSGFSGEELPFVGFS
  YSKALGILGRSESVVSGLDSPAKTSSMEKKLLIKSKELQDSQDKCHKMEQEMTRLHRRVS
  EVEAVLSQKEVELKASETQRSLLEQDLATYITECSSLKRSLEQARMEVSQEDDKALQLLH
  DIREQSRKLQEIKEQEYQAQVEEMRLMMNQLEEDLVSARRRSDLYESELRESRLAAEEFK
  RKATECQHKLLKAKDQGKPEVGEYAKLEKINAEQQLKIQELQEKLEKAVKASTEATELLQ
  NIRQAKERAERELEKLQNREDSSEGIRKKLVEAEELEEKHREAQVSAQHLEVHLKQKEQH
  YEEKIKVLDNQIKKDLADKETLENMMQRHEEEAHEKGKILSEQKAMINAMDSKIRSLEQR
  IVELSEANKLAANSSLFTQRNMKAQEEMISELRQQKFYLETQAGKLEAQNRKLEEQLEKI
  SHQDHSDKNRLLELETRLREVSLEHEEQKLELKRQLTELQLSLQERESQLTALQAARAAL
  ESQLRQAKTELEETTAEAEEEIQALTAHRDEIQRKFDALRNSCTVITDLEEQLNQLTEDN
  AELNNQNFYLSKQLDEASGANDEIVQLRSEVDHLRREITEREMQLTSQKQTMEALKTTCT
  MLEEQVMDLEALNDELLEKERQWEAWRSVLGDEKSQFECRVRELQRMLDTEKQSRARADQ
  RITESRQVVELAVKEHKAEILALQQALKEQKLKAESLSDKLNDLEKKHAMLEMNARSLQQ
  KLETERELKQRLLEEQAKLQQQMDLQKNHIFRLTQGLQEALDRADLLKTERSDLEYQLEN
  IQVLYSHEKVKMEGTISQQTKLIDFLQAKMDQPAKKKKGLFSRRKEDPALPTQVPLQYNE
  LKLALEKEKARCAELEEALQKTRIELRSAREEAAHRKATDHPHPSTPATARQQIAMSAIV
  RSPEHQPSAMSLLAPPSSRRKESSTPEEFSRRLKERMHHNIPHRFNVGLNMRATKCAVCL
  DTVHFGRQASKCLECQVMCHPKCSTCLPATCGLPAEYATHFTEAFCRDKMNSPGLQTKEP
  SSSLHLEGWMKVPRNNKRGQQGWDRKYIVLEGSKVLIYDNEAREAGQRPVEEFELCLPDG
  DVSIHGAVGASELANTAKADVPYILKMESHPHTTCWPGRTLYLLAPSFPDKQRWVTALES
  VVAGGRVSREKAEADAKLLGNSLLKLEGDDRLDMNCTLPFSDQVVLVGTEEGLYALNVLK
  NSLTHVPGIGAVFQIYIIKDLEKLLMIAGEERALCLVDVKKVKQSLAQSHLPAQPDISPN
  IFEAVKGCHLFGAGKIENGLCICAAMPSKVVILRYNENLSKYCIRKEIETSEPCSCIHFT
  NYSILIGTNKFYEIDMKQYTLEEFLDKNDHSLAPAVFAASSNSFPVSIVQVNSAGQREEY
  LLCFHEFGVFVDSYGRRSRTDDLKWSRLPLAFAYREPYLFVTHFNSLEVIEIQARSSAGT
  PARAYLDIPNPRYLGPAISSGAIYLASSYQDKLRVICCKGNLVKESGTEHHRGPSTSRSS
  PNKRGPPTYNEHITKRVASSPAPPEGPSHPREPSTPHRYREGRTELRRDKSPGRPLEREK
  SPGRMLSTRRERSPGRLFEDSSRGRLPAGAVRTPLSQVNKVWDQSSV

• Sequence length: 2027

Pathways

Reactome:

RHO GTPases activate CIT

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal recessive primary microcephaly	Likely pathogenic; Pathogenic	rs879253817, rs879255522, rs879255524, rs879255523	RCV000234954 RCV000239414 RCV000239406 RCV000239424	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly 17, primary, autosomal recessive	Pathogenic; Likely pathogenic	rs1968060326, rs879253817, rs879255522, rs886037892, rs886037893, rs886037894, rs886037895, rs1964403206, rs202076791, rs2138306726, rs2137067282	RCV001808106 RCV000240609 RCV000240615 RCV000240608 RCV000240614 RCV000240618 RCV000240619 RCV004547318 RCV005410926 RCV001375663 RCV001375664	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CIT-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MICROCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfanoid habitus and intellectual disability	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY TRACT INFECTIOUS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations