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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	22866
Gene name Gene Name - the full gene name approved by the HGNC.	Connector enhancer of kinase suppressor of Ras 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CNKSR2
Synonyms (NCBI Gene) Gene synonyms aliases	CNK2, KSR2, MAGUIN, MRXSHG
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MRXSHG
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xp22.12
Summary Summary of gene provided in NCBI Entrez Gene.	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(13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	18287031
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IDA	14597674
GO:0009966	Process	Regulation of signal transduction	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:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099147	Component	Extrinsic component of postsynaptic density membrane	IEA
GO:0099173	Process	Postsynapse organization	IEA

MIM	HGNC	e!Ensembl
300724	19701	ENSG00000149970

Protein

UniProt ID

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 (15)

Disease term	Disease name	dbSNP ID	References
Causal
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Autism	Autistic Disorder, Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800 View all (467 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Developmental regression	Developmental regression	rs1224421127
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)	30718926
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625 View all (860 more)
Mental retardation	Severe intellectual disability, Mental Retardation, Moderate intellectual disability, Intellectual Disability, MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)	28098945
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation, x-linked	Mental Retardation, X-Linked 1	rs1603009115, rs199422240, rs199422234, rs782600511, rs199422235, rs199422236, rs199422237, rs199422238, rs199422239, rs2147483647, rs137852561, rs104894952, rs137852350, rs137852351, rs137852352 View all (405 more)	25644381
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562 View all (27 more)
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Seizure	Tonic - clonic seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061 View all (179 more)

Show/Hide Unknown Diseases (6)

Disease term	Disease name	Source
Unknown
Ptosis	Blepharoptosis, Ptosis	ClinVar
Neurodevelopmental Disorders	X-linked complex neurodevelopmental disorder	GenCC
Schizophrenia	Schizophrenia	GWAS
Bipolar Disorder	Bipolar Disorder	GWAS
Diabetes	Diabetes	GWAS
Insomnia	Insomnia	GWAS

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining
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)