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

    Gene ID: 22866, updated on 27-Nov-2024

    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; AllianceGenome:HGNC:19701
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CNKSR2 in Genome Data Viewer
    Location:
    Xp22.12
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (21374418..21654689)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (20957756..21238011)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (21392536..21672807)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905258 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:20991102-20991662 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:21007714-21008913 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:21064982-21065616 Neighboring gene NANOG hESC enhancer GRCh37_chrX:21176863-21177381 Neighboring gene RNA, U6 small nuclear 133, pseudogene Neighboring gene uncharacterized LOC105373146 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:21357913-21358412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:21391460-21391960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:21391961-21392461 Neighboring gene retinoic acid receptor responder 2 pseudogene 3 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:21704726-21705925 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
    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

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 postsynaptic specialization 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 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)

    NEW Try the new Transcript table

    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/TrEMBL
      A0A2R8YED7
      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/TrEMBL
      A0A2R8YGJ7
      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/TrEMBL
      A0A2R8YGJ7
      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
      UniProtKB/TrEMBL
      A0A2R8Y7A1, A0A2R8YED7
      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
      UniProtKB/TrEMBL
      A0A2R8Y5S6, A0A2R8Y622
      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
      UniProtKB/TrEMBL
      A0A2R8Y700, A0A2R8YED7
      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
      UniProtKB/TrEMBL
      A0A2R8Y5S6, A0A2U3TZH5
      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:339457
      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
      B4DGR4, B7ZLJ1, B9EG83, E7ESA4, O94976, Q5JPK4, Q5JPN0, Q8WXI1, Q8WXI2
      UniProtKB/TrEMBL
      A0A2R8YED7
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011545471.4XP_011543773.1  connector enhancer of kinase suppressor of ras 2 isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y5S6
      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_011545472.4XP_011543774.1  connector enhancer of kinase suppressor of ras 2 isoform X2

      See identical proteins and their annotated locations for XP_011543774.1

      UniProtKB/TrEMBL
      A0A2R8YGJ7
      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_017029358.3XP_016884847.1  connector enhancer of kinase suppressor of ras 2 isoform X3

      UniProtKB/TrEMBL
      A0A2R8Y5S6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      20957756..21238011
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)