Seroatlas · Human Serome Atlas

CNKSR2

Connector enhancer of kinase suppressor of ras 2

Also known as: CNK2, CNKR2_HUMAN, KIAA0902, KSR2

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8WXI2
Gene: CNKSR2
Ensembl: ENSG00000149970
Chromosome: X
Canonical length: 1034 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Golgi apparatus,Plasma membrane

OverviewNCBI 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 also play a role in ternary complex assembly of synaptic proteins at the postsynaptic membrane and coupling of signal transduction to membrane/cytoskeletal remodeling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

Canonical amino-acid sequenceUniProt

1034 residues, UniProt reviewed canonical sequence.

>Q8WXI2|CNKSR2
     1  MALIMEPVSK WSPSQVVDWM KGLDDCLQQY IKNFEREKIS GDQLLRITHQ ELEDLGVSRI
    61  GHQELILEAV DLLCALNYGL ETENLKTLSH KLNASAKNLQ NFITGRRRSG HYDGRTSRKL
   121  PNDFLTSVVD LIGAAKSLLA WLDRSPFAAV TDYSVTRNNV IQLCLELTTI VQQDCTVYET
   181  ENKILHVCKT LSGVCDHIIS LSSDPLVSQS AHLEVIQLAN IKPSEGLGMY IKSTYDGLHV
   241  ITGTTENSPA DRCKKIHAGD EVIQVNHQTV VGWQLKNLVN ALREDPSGVI LTLKKRPQSM
   301  LTSAPALLKN MRWKPLALQP LIPRSPTSSV ATPSSTISTP TKRDSSALQD LYIPPPPAEP
   361  YIPRDEKGNL PCEDLRGHMV GKPVHKGSES PNSFLDQEYR KRFNIVEEDT VLYCYEYEKG
   421  RSSSQGRRES TPTYGKLRPI SMPVEYNWVG DYEDPNKMKR DSRRENSLLR YMSNEKIAQE
   481  EYMFQRNSKK DTGKKSKKKG DKSNSPTHYS LLPSLQMDAL RQDIMGTPVP ETTLYHTFQQ
   541  SSLQHKSKKK NKGPIAGKSK RRISCKDLGR GDCEGWLWKK KDAKSYFSQK WKKYWFVLKD
   601  ASLYWYINEE DEKAEGFISL PEFKIDRASE CRKKYAFKAC HPKIKSFYFA AEHLDDMNRW
   661  LNRINMLTAG YAERERIKQE QDYWSESDKE EADTPSTPKQ DSPPPPYDTY PRPPSMSCAS
   721  PYVEAKHSRL SSTETSQSQS SHEEFRQEVT GSSAVSPIRK TASQRRSWQD LIETPLTSSG
   781  LHYLQTLPLE DSVFSDSAAI SPEHRRQSTL PTQKCHLQDH YGPYPLAESE RMQVLNGNGG
   841  KPRSFTLPRD SGFNHCCLNA PVSACDPQDD VQPPEVEEEE EEEEEEGEAA GENIGEKSES
   901  REEKLGDSLQ DLYRALEQAS LSPLGEHRIS TKMEYKLSFI KRCNDPVMNE KLHRLRILKS
   961  TLKAREGEVA IIDKVLDNPD LTSKEFQQWK QMYLDLFLDI CQNTTSNDPL SISSEVDVIT
  1021  SSLAHTHSYI ETHV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CNKSR2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.51
Highest tissue expression: 35 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 35 nTPM
cerebral cortex: 22 nTPM
retina: 17 nTPM
basal ganglia: 14 nTPM
hippocampal formation: 10 nTPM
amygdala: 7.6 nTPM

Single-cell type

rod photoreceptor cells: 730 nCPM
brain excitatory neurons: 717 nCPM
retinal amacrine cells: 504 nCPM
adrenal medulla cells: 457 nCPM
brain inhibitory neurons: 405 nCPM
astrocytes: 218 nCPM

Immune cell

naive B-cell: 0.9 nTPM
naive CD4 T-cell: 0.8 nTPM
memory B-cell: 0.2 nTPM
naive CD8 T-cell: 0.2 nTPM
T-reg: 0.2 nTPM
eosinophil: 0.1 nTPM

Brain region

cerebellum: 68 nTPM
hippocampal formation: 64 nTPM
cerebral cortex: 56 nTPM
basal ganglia: 45 nTPM
amygdala: 38 nTPM
white matter: 31 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CNKSR2.

Disease | AllUniProt

Conditions CNKSR2 is implicated in, by any mechanism.

Intellectual developmental disorder, X-linked, syndromic, Houge type (MRXSHG) MIM:301008

Disease | GeneticClinVar

57 pathogenic / likely-pathogenic of 384 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual disability, X-linked, syndromic, Houge type
Inborn genetic diseases
Intellectual disability
X-linked recessive seizure and neurodevelopmental deficit
See cases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.19
gnomAD pLI: 1
gnomAD missense Z: 3.61
DepMap mean gene effect: -0.05
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CNKSR2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CNKSR2 as an antibody target. Whether an autoantibody or antibody against CNKSR2 could matter depends on whether native CNKSR2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CNKSR2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CNKSR2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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