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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	22866
Gene name	Connector enhancer of kinase suppressor of Ras 2
Gene symbol	CNKSR2
Synonyms (NCBI Gene)	CNK2KSR2MAGUINMRXSHG
Chromosome	X
Chromosome location	Xp22.12
Summary	This gene encodes a multidomain protein that functions as a scaffold protein to mediate the mitogen-activated protein kinase pathways downstream from Ras. This gene product is induced by vitamin D and inhibits apoptosis in certain cancer cells. It may als

Show/Hide all (12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs113091231	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs606231282	->A	Pathogenic	Frameshift variant, coding sequence variant
rs760890681	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs886041712	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041798	CTTAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs904072058	C>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1064793729	G>A	Pathogenic	Splice donor variant
rs1064794022	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1555941759	G>C	Likely-pathogenic	Splice donor variant
rs1569261319	G>A	Pathogenic	Coding sequence variant, stop gained
rs1601952572	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602013845	AG>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (50)

miRTarBase ID	miRNA	Experiments	Reference
MIRT538461	hsa-miR-4662a-3p	PAR-CLIP	22012620
MIRT538460	hsa-miR-203b-5p	PAR-CLIP	22012620
MIRT538459	hsa-miR-6718-5p	PAR-CLIP	22012620
MIRT538458	hsa-miR-140-5p	PAR-CLIP	22012620
MIRT538457	hsa-miR-6847-3p	PAR-CLIP	22012620
MIRT538456	hsa-miR-5681b	PAR-CLIP	22012620
MIRT538455	hsa-miR-7973	PAR-CLIP	22012620
MIRT538454	hsa-miR-4460	PAR-CLIP	22012620
MIRT538453	hsa-miR-6808-3p	PAR-CLIP	22012620
MIRT538452	hsa-miR-758-3p	PAR-CLIP	22012620
MIRT538461	hsa-miR-4662a-3p	PAR-CLIP	22012620
MIRT538460	hsa-miR-203b-5p	PAR-CLIP	22012620
MIRT538459	hsa-miR-6718-5p	PAR-CLIP	22012620
MIRT538458	hsa-miR-140-5p	PAR-CLIP	22012620
MIRT538457	hsa-miR-6847-3p	PAR-CLIP	22012620
MIRT538456	hsa-miR-5681b	PAR-CLIP	22012620
MIRT538455	hsa-miR-7973	PAR-CLIP	22012620
MIRT538454	hsa-miR-4460	PAR-CLIP	22012620
MIRT538453	hsa-miR-6808-3p	PAR-CLIP	22012620
MIRT538452	hsa-miR-758-3p	PAR-CLIP	22012620
MIRT899737	hsa-miR-1911	CLIP-seq
MIRT899738	hsa-miR-3173-3p	CLIP-seq
MIRT899739	hsa-miR-381	CLIP-seq
MIRT899740	hsa-miR-4666-3p	CLIP-seq
MIRT899741	hsa-miR-584	CLIP-seq
MIRT899742	hsa-miR-634	CLIP-seq
MIRT899743	hsa-miR-759	CLIP-seq
MIRT899744	hsa-miR-186	CLIP-seq
MIRT899745	hsa-miR-27a	CLIP-seq
MIRT899746	hsa-miR-27b	CLIP-seq
MIRT899747	hsa-miR-4698	CLIP-seq
MIRT899748	hsa-miR-4719	CLIP-seq
MIRT899749	hsa-miR-513a-5p	CLIP-seq
MIRT899750	hsa-miR-369-3p	CLIP-seq
MIRT899751	hsa-miR-374a	CLIP-seq
MIRT899752	hsa-miR-374b	CLIP-seq
MIRT899739	hsa-miR-381	CLIP-seq
MIRT899740	hsa-miR-4666-3p	CLIP-seq
MIRT899739	hsa-miR-381	CLIP-seq
MIRT899740	hsa-miR-4666-3p	CLIP-seq
MIRT899739	hsa-miR-381	CLIP-seq
MIRT899740	hsa-miR-4666-3p	CLIP-seq
MIRT1966894	hsa-miR-21	CLIP-seq
MIRT1966895	hsa-miR-590-5p	CLIP-seq
MIRT899739	hsa-miR-381	CLIP-seq
MIRT899740	hsa-miR-4666-3p	CLIP-seq
MIRT2505573	hsa-miR-539	CLIP-seq
MIRT2505574	hsa-miR-758	CLIP-seq
MIRT2505573	hsa-miR-539	CLIP-seq
MIRT2505574	hsa-miR-758	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	18287031, 27956147
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IDA	14597674
GO:0009966	Process	Regulation of signal transduction	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0019901	Function	Protein kinase binding	IDA	14597674
GO:0035556	Process	Intracellular signal transduction	IDA	14597674
GO:0042802	Function	Identical protein binding	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099084	Process	Postsynaptic specialization organization	IEA
GO:0099147	Component	Extrinsic component of postsynaptic density membrane	IEA
GO:0099173	Process	Postsynapse organization	IEA

MIM	HGNC	e!Ensembl
300724	19701	ENSG00000149970

Q8WXI2

Protein name

Connector enhancer of kinase suppressor of ras 2 (Connector enhancer of KSR 2) (CNK homolog protein 2) (CNK2)

Protein function

May function as an adapter protein or regulator of Ras signaling pathways.

PDB

2EAN , 3BS5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00536	SAM_1	9 → 73	SAM domain (Sterile alpha motif)	Domain
PF10534	CRIC_ras_sig	84 → 176	Connector enhancer of kinase suppressor of ras	Domain
PF00595	PDZ	216 → 294	PDZ domain	Domain
PF06663	DUF1170	339 → 497	Protein of unknown function (DUF1170)	Family
PF00169	PH	571 → 669	PH domain	Domain

Sequence

MALIMEPVSKWSPSQVVDWMKGLDDCLQQYIKNFEREKISGDQLLRITHQELEDLGVSRI
GHQELILEAVDLLCALNYGLETENLKTLSHKLNASAKNLQNFITGRRRSGHYDGRTSRKL
PNDFLTSVVDLIGAAKSLLAWLDRSPFAAVTDYSVTRNNVIQLCLELTTIVQQDCTVYET
ENKILHVCKTLSGVCDHIISLSSDPLVSQSAHLEVIQLANIKPSEGLGMYIKSTYDGLHV
ITGTTENSPADRCKKIHAGDEVIQVNHQTVVGWQLKNLVNALREDPSGVILTLKKRPQSM
LTSAPALLKNMRWKPLALQPLIPRSPTSSVATPSSTISTPTKRDSSALQDLYIPPPPAEP
YIPRDEKGNLPCEDLRGHMVGKPVHKGSESPNSFLDQEYRKRFNIVEEDTVLYCYEYEKG
RSSSQGRRESTPTYGKLRPISMPVEYNWVGDYEDPNKMKRDSRRENSLLRYMSNEKIAQE
EYMFQRNSKKDTGKKSKKKGDKSNSPTHYSLLPSLQMDALRQDIMGTPVPETTLYHTFQQ
SSLQHKSKKKNKGPIAGKSKRRISCKDLGRGDCEGWLWKKKDAKSYFSQKWKKYWFVLKD
ASLYWYINEEDEKAEGFISLPEFKIDRASECRKKYAFKACHPKIKSFYFAAEHLDDMNRW
LNRINMLTAGYAERERIKQEQDYWSESDKEEADTPSTPKQDSPPPPYDTYPRPPSMSCAS
PYVEAKHSRLSSTETSQSQSSHEEFRQEVTGSSAVSPIRKTASQRRSWQDLIETPLTSSG
LHYLQTLPLEDSVFSDSAAISPEHRRQSTLPTQKCHLQDHYGPYPLAESERMQVLNGNGG
KPRSFTLPRDSGFNHCCLNAPVSACDPQDDVQPPEVEEEEEEEEEEGEAAGENIGEKSES
REEKLGDSLQDLYRALEQASLSPLGEHRISTKMEYKLSFIKRCNDPVMNEKLHRLRILKS
TLKAREGEVAIIDKVLDNPDLTSKEFQQWKQMYLDLFLDICQNTTSNDPLSISSEVDVIT
SSLAHTHSYIETHV

Sequence length

1034

Interactions

View interactions

	Reactome
			MAP2K and MAPK activation Signaling by moderate kinase activity BRAF mutants Signaling by high-kinase activity BRAF mutants Signaling by BRAF and RAF fusions Paradoxical activation of RAF signaling by kinase inactive BRAF Signaling downstream of RAS mutants

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Likely pathogenic; Pathogenic	rs1569161831, rs2092480152	RCV000760277 RCV001260689
Intellectual disability, X-linked, syndromic, Houge type	Pathogenic; Likely pathogenic	rs2147123782, rs2147268813, rs2147283343, rs2147191275, rs606231282, rs2147143428, rs2519101342, rs1602013845, rs2519358174, rs2519083192, rs2519299753, rs904072058, rs1569261319, rs2092480172, rs2092414327	RCV001375874 RCV001638189 RCV001728040 RCV001780796 RCV000144938 RCV002267688 RCV002465470 RCV002470212 RCV003228738 RCV003318474 RCV003448921 RCV000516164 RCV000785133 RCV001253675 RCV001291713
Neurodevelopmental disorder	Likely pathogenic	rs1569272271	RCV000782047
X-linked recessive seizure and neurodevelopmental deficit	Likely pathogenic	rs1555941759	RCV000578363

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Likely benign	rs144866575	RCV005922687
CNKSR2-related disorder	Likely benign; Benign; Uncertain significance	rs371945192, rs770084913, rs945685621, rs2518970563, rs1230071869, rs2519335839, rs34161348, rs139219013	RCV003941089 RCV003973734 RCV003946451 RCV003961656 RCV003944468 RCV003968940 RCV003936078 RCV003968221
See cases	Uncertain significance	rs930186060	RCV002252807
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs2091840428	RCV005909264
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	rs113091231	RCV005886562

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Apraxias	Associate	37929438
ATR X syndrome	Associate	32245427, 37929438
Attention Deficit Disorder with Hyperactivity	Associate	33298018
Breast Neoplasms	Associate	29534682
Developmental Disabilities	Associate	33298018
Drug Resistant Epilepsy	Associate	37929438
Epilepsy	Associate	31414730, 33298018, 34114993
Hyperkinesis	Associate	34114993
Intellectual Disability	Associate	23871722, 31414730, 34114993, 37929438
Language Disorders	Associate	33298018, 34114993
Mental Retardation X Linked	Associate	34114993, 37929438
Neoplasms	Associate	27869828
Seizures	Associate	31414730

CNKSR2 (connector enhancer of kinase suppressor of Ras 2)