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CNKSR2 connector enhancer of kinase suppressor of Ras 2 [ Homo sapiens (human) ]

Gene ID: 22866, updated on 23-Nov-2021

Summary

Official Symbol
CNKSR2provided by HGNC
Official Full Name
connector enhancer of kinase suppressor of Ras 2provided by HGNC
Primary source
HGNC:HGNC:19701
See related
Ensembl:ENSG00000149970 MIM:300724
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CNK2; KSR2; MAGUIN; MRXSHG
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 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]
Expression
Biased expression in brain (RPKM 9.7), adrenal (RPKM 1.3) and 2 other tissues See more
Orthologs
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Genomic context

See CNKSR2 in Genome Data Viewer
Location:
Xp22.12
Exon count:
23
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (21374418..21654689)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (21392536..21672807)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 183 Neighboring gene uncharacterized LOC105373146 Neighboring gene RNA, U6 small nuclear 133, pseudogene Neighboring gene retinoic acid receptor responder 2 pseudogene 3 Neighboring gene kelch like family member 34 Neighboring gene small muscle protein X-linked

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Intellectual disability, X-linked, syndromic, Houge type
MedGen: C4538788 OMIM: 301008 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-01-12)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-01-12)

ClinGen Genome Curation PagePubMed

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0902

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within intracellular signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
involved_in postsynapse organization IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular exosome HDA PubMed 
located_in extrinsic component of postsynaptic density membrane IEA
Inferred from Electronic Annotation
more info
 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
located_in neuron projection IEA
Inferred from Electronic Annotation
more info
 
located_in neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
connector enhancer of kinase suppressor of ras 2
Names
CNK homolog protein 2
connector enhancer of KSR2
membrane-associated guanylate kinase-interacting protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016266.1 RefSeqGene

    Range
    5001..285272
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001168647.3NP_001162118.1  connector enhancer of kinase suppressor of ras 2 isoform 2

    See identical proteins and their annotated locations for NP_001162118.1

    Status: REVIEWED

    Source sequence(s)
    AL772392, AL807781, BC143839
    Consensus CDS
    CCDS55388.1
    UniProtKB/Swiss-Prot
    Q8WXI2
    Related
    ENSP00000397906.2, ENST00000425654.7
    Conserved Domains (5) summary
    cd09511
    Location:876
    SAM_CNK1,2,3-suppressor; SAM domain of CNK1,2,3-suppressor subfamily
    cd00992
    Location:222294
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01260
    Location:529642
    PH_CNK_mammalian-like; Connector enhancer of KSR (Kinase suppressor of ras) (CNK) pleckstrin homology (PH) domain
    pfam06663
    Location:339484
    DUF1170; Protein of unknown function (DUF1170)
    pfam10534
    Location:84176
    CRIC_ras_sig; Connector enhancer of kinase suppressor of ras
  2. NM_001168648.3NP_001162119.1  connector enhancer of kinase suppressor of ras 2 isoform 3

    See identical proteins and their annotated locations for NP_001162119.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3, also known as CNK2B and MAGUIN-2) differs in the 3' UTR and 3' coding region, compared to variant 1. It encodes isoform 3 which has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AF418270, AK056549, AL772392, BM692904, DA067208, F09543, T65396, Z40257
    Consensus CDS
    CCDS55387.1
    UniProtKB/Swiss-Prot
    Q8WXI2
    UniProtKB/TrEMBL
    B3KPN2
    Related
    ENSP00000496709.1, ENST00000642359.1
    Conserved Domains (5) summary
    cd09511
    Location:876
    SAM_CNK1,2,3-suppressor; SAM domain of CNK1,2,3-suppressor subfamily
    cd00992
    Location:222294
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01260
    Location:559672
    PH_CNK_mammalian-like; Connector enhancer of KSR (Kinase suppressor of ras) (CNK) pleckstrin homology (PH) domain
    pfam06663
    Location:339514
    DUF1170; Protein of unknown function (DUF1170)
    pfam10534
    Location:84176
    CRIC_ras_sig; Connector enhancer of kinase suppressor of ras
  3. NM_001168649.3NP_001162120.1  connector enhancer of kinase suppressor of ras 2 isoform 4

    See identical proteins and their annotated locations for NP_001162120.1

    Status: REVIEWED

    Source sequence(s)
    AK056549, AK294728, AL772392, AL807781, F09543, T65396, Z40257
    Consensus CDS
    CCDS55389.1
    UniProtKB/Swiss-Prot
    Q8WXI2
    UniProtKB/TrEMBL
    B3KPN2
    Related
    ENSP00000444633.1, ENST00000543067.6
    Conserved Domains (5) summary
    cd09511
    Location:876
    SAM_CNK1,2,3-suppressor; SAM domain of CNK1,2,3-suppressor subfamily
    cd00992
    Location:222270
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01260
    Location:510623
    PH_CNK_mammalian-like; Connector enhancer of KSR (Kinase suppressor of ras) (CNK) pleckstrin homology (PH) domain
    pfam06663
    Location:290465
    DUF1170; Protein of unknown function (DUF1170)
    pfam10534
    Location:84176
    CRIC_ras_sig; Connector enhancer of kinase suppressor of ras
  4. NM_001330770.2NP_001317699.1  connector enhancer of kinase suppressor of ras 2 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL772392, AL807781, AL928874
    Consensus CDS
    CCDS87729.1
    Related
    ENSP00000495954.1, ENST00000644585.1
    Conserved Domains (5) summary
    cd09511
    Location:876
    SAM_CNK1,2,3-suppressor; SAM domain of CNK1,2,3-suppressor subfamily
    cd00992
    Location:222270
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01260
    Location:510623
    PH_CNK_mammalian-like; Connector enhancer of KSR (Kinase suppressor of ras) (CNK) pleckstrin homology (PH) domain
    pfam06663
    Location:290465
    DUF1170; Protein of unknown function (DUF1170)
    pfam10534
    Location:84176
    CRIC_ras_sig; Connector enhancer of kinase suppressor of ras
  5. NM_001330771.2NP_001317700.1  connector enhancer of kinase suppressor of ras 2 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL772392, AL807781, AL928874
    Consensus CDS
    CCDS87730.1
    Related
    ENSP00000494906.1, ENST00000645791.1
    Conserved Domains (5) summary
    cd09511
    Location:876
    SAM_CNK1,2,3-suppressor; SAM domain of CNK1,2,3-suppressor subfamily
    cd00992
    Location:222270
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01260
    Location:480593
    PH_CNK_mammalian-like; Connector enhancer of KSR (Kinase suppressor of ras) (CNK) pleckstrin homology (PH) domain
    pfam06663
    Location:290408
    DUF1170; Protein of unknown function (DUF1170)
    pfam10534
    Location:84176
    CRIC_ras_sig; Connector enhancer of kinase suppressor of ras
  6. NM_001330772.2NP_001317701.1  connector enhancer of kinase suppressor of ras 2 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL772392, AL807781, AL928874
    Consensus CDS
    CCDS87731.1
    Related
    ENSP00000495695.1, ENST00000645245.1
    Conserved Domains (5) summary
    cd09511
    Location:876
    SAM_CNK1,2,3-suppressor; SAM domain of CNK1,2,3-suppressor subfamily
    cd00992
    Location:222270
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01260
    Location:480593
    PH_CNK_mammalian-like; Connector enhancer of KSR (Kinase suppressor of ras) (CNK) pleckstrin homology (PH) domain
    pfam06663
    Location:290435
    DUF1170; Protein of unknown function (DUF1170)
    pfam10534
    Location:84176
    CRIC_ras_sig; Connector enhancer of kinase suppressor of ras
  7. NM_001330773.2NP_001317702.1  connector enhancer of kinase suppressor of ras 2 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL772392, AL807781, AL928874
    Consensus CDS
    CCDS87728.1
    Related
    ENSP00000279451.5, ENST00000279451.9
    Conserved Domains (5) summary
    cd09511
    Location:876
    SAM_CNK1,2,3-suppressor; SAM domain of CNK1,2,3-suppressor subfamily
    cd00992
    Location:222294
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01260
    Location:529642
    PH_CNK_mammalian-like; Connector enhancer of KSR (Kinase suppressor of ras) (CNK) pleckstrin homology (PH) domain
    pfam06663
    Location:339484
    DUF1170; Protein of unknown function (DUF1170)
    pfam10534
    Location:84176
    CRIC_ras_sig; Connector enhancer of kinase suppressor of ras
  8. NM_014927.5NP_055742.2  connector enhancer of kinase suppressor of ras 2 isoform 1

    See identical proteins and their annotated locations for NP_055742.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as CNK2A and MAGUIN-1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL772392, AL807781, BC136289
    Consensus CDS
    CCDS14198.1
    UniProtKB/Swiss-Prot
    Q8WXI2
    Related
    ENSP00000368824.3, ENST00000379510.5
    Conserved Domains (5) summary
    cd09511
    Location:876
    SAM_CNK1,2,3-suppressor; SAM domain of CNK1,2,3-suppressor subfamily
    cd00992
    Location:222294
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01260
    Location:559672
    PH_CNK_mammalian-like; Connector enhancer of KSR (Kinase suppressor of ras) (CNK) pleckstrin homology (PH) domain
    pfam06663
    Location:339514
    DUF1170; Protein of unknown function (DUF1170)
    pfam10534
    Location:84176
    CRIC_ras_sig; Connector enhancer of kinase suppressor of ras

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    21374418..21654689
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545471.3XP_011543773.1  connector enhancer of kinase suppressor of ras 2 isoform X1

    Conserved Domains (8) summary
    cd09511
    Location:876
    SAM_CNK1,2,3-suppressor; SAM domain of CNK1,2,3-suppressor subfamily
    smart00454
    Location:873
    SAM; Sterile alpha motif
    cd00992
    Location:222294
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01260
    Location:529642
    PH_CNK_mammalian-like; Connector enhancer of KSR (Kinase suppressor of ras) (CNK) pleckstrin homology (PH) domain
    pfam00169
    Location:543639
    PH; PH domain
    pfam06663
    Location:341531
    DUF1170; Protein of unknown function (DUF1170)
    pfam10534
    Location:84176
    CRIC_ras_sig; Connector enhancer of kinase suppressor of ras
    pfam15499
    Location:139218
    Peptidase_C98; Ubiquitin-specific peptidase-like, SUMO isopeptidase
  2. XM_011545472.3XP_011543774.1  connector enhancer of kinase suppressor of ras 2 isoform X2

    See identical proteins and their annotated locations for XP_011543774.1

    Conserved Domains (8) summary
    cd09511
    Location:876
    SAM_CNK1,2,3-suppressor; SAM domain of CNK1,2,3-suppressor subfamily
    smart00454
    Location:873
    SAM; Sterile alpha motif
    cd00992
    Location:222270
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01260
    Location:510623
    PH_CNK_mammalian-like; Connector enhancer of KSR (Kinase suppressor of ras) (CNK) pleckstrin homology (PH) domain
    pfam00169
    Location:524620
    PH; PH domain
    pfam06663
    Location:292512
    DUF1170; Protein of unknown function (DUF1170)
    pfam10534
    Location:84176
    CRIC_ras_sig; Connector enhancer of kinase suppressor of ras
    pfam15499
    Location:139218
    Peptidase_C98; Ubiquitin-specific peptidase-like, SUMO isopeptidase
  3. XM_017029358.2XP_016884847.1  connector enhancer of kinase suppressor of ras 2 isoform X3

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