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    CLNK cytokine dependent hematopoietic cell linker [ Homo sapiens (human) ]

    Gene ID: 116449, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CLNKprovided by HGNC
    Official Full Name
    cytokine dependent hematopoietic cell linkerprovided by HGNC
    Primary source
    HGNC:HGNC:17438
    See related
    Ensembl:ENSG00000109684 MIM:611434; AllianceGenome:HGNC:17438
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MIST
    Summary
    MIST is a member of the SLP76 family of adaptors (see LCP2, MIM 601603; BLNK, MIM 604515). MIST plays a role in the regulation of immunoreceptor signaling, including PLC-gamma (PLCG1; MIM 172420)-mediated B cell antigen receptor (BCR) signaling and FC-epsilon R1 (see FCER1A, MIM 147140)-mediated mast cell degranulation (Cao et al., 1999 [PubMed 10562326]; Goitsuka et al., 2000, 2001 [PubMed 10744659] [PubMed 11463797]).[supplied by OMIM, Mar 2008]
    Expression
    Biased expression in kidney (RPKM 1.1), lymph node (RPKM 0.5) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CLNK in Genome Data Viewer
    Location:
    4p16.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (10486395..10734846, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (10462366..10710706, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (10488019..10686392, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21312 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:10458158-10458973 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15281 Neighboring gene reactive intermediate imine deaminase A homolog pseudogene Neighboring gene uncharacterized LOC105374482 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:10498029-10498975 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:10497080-10498028 Neighboring gene zinc finger protein 518B Neighboring gene uncharacterized LOC105374481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21314 Neighboring gene uncharacterized LOC105374480 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:10664724-10664901 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21315 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15282 Neighboring gene long intergenic non-protein coding RNA 2498 Neighboring gene uncharacterized LOC105374479 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:10807763-10808962 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:10855215-10855716 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:10855717-10856216 Neighboring gene NANOG hESC enhancer GRCh37_chr4:10946361-10946898 Neighboring gene Sharpr-MPRA regulatory region 8730 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:10965707-10966380 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:11067600-11068246 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:11150486-11151153 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:11218597-11219141 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:11219142-11219685 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:11227260-11227455 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:11232380-11233128 Neighboring gene uncharacterized LOC105374488

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identify positive correlations between WDR1 and CLNK gene polymorphisms in Chinese-Tibetan gout populations.
      Title: WDR1 and CLNK gene polymorphisms correlate with serum glucose and high-density lipoprotein levels in Tibetan gout patients.
    2. CLNK and ZNF518B SNPs may have potential as diagnostic and prognostic marker for Chinese gout patients.
      Title: Genetic variations in the CLNK gene and ZNF518B gene are associated with gout in case-control sample sets.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Screening for replication of genome-wide SNP associations in sporadic ALS.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2016-06-02)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2016-06-02)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    EBI GWAS Catalog
    Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC35197

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell surface receptor protein tyrosine kinase signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mast cell degranulation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of natural killer cell activation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of natural killer cell cytokine production IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in mast cell granule IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    cytokine-dependent hematopoietic cell linker
    Names
    mast cell immunoreceptor signal transducer

    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.

    mRNA and Protein(s)

    1. NM_052964.4 → NP_443196.2  cytokine-dependent hematopoietic cell linker

      See identical proteins and their annotated locations for NP_443196.2

      Status: VALIDATED

      Source sequence(s)
      AC005599, AC084048, AC110768
      Consensus CDS
      CCDS47024.1
      UniProtKB/Swiss-Prot
      Q05C27, Q7Z7G1, Q9P2U9
      Related
      ENSP00000226951.6, ENST00000226951.11
      Conserved Domains (1) summary
      cd09929
      Location:297 → 417
      SH2_BLNK_SLP-76; Src homology 2 (SH2) domain found in B-cell linker (BLNK) protein and SH2 domain-containing leukocyte protein of 76 kDa (SLP-76)

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      10486395..10734846 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513775.3 → XP_011512077.1  cytokine-dependent hematopoietic cell linker isoform X1

      See identical proteins and their annotated locations for XP_011512077.1

      Conserved Domains (1) summary
      cd09929
      Location:312 → 432
      SH2_BLNK_SLP-76; Src homology 2 (SH2) domain found in B-cell linker (BLNK) protein and SH2 domain-containing leukocyte protein of 76 kDa (SLP-76)

    2. XM_017007684.2 → XP_016863173.1  cytokine-dependent hematopoietic cell linker isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      10462366..10710706 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348851.1 → XP_054204826.1  cytokine-dependent hematopoietic cell linker isoform X1

    2. XM_054348852.1 → XP_054204827.1  cytokine-dependent hematopoietic cell linker isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z7G1.2 GenPept UniProtKB/Swiss-Prot:Q7Z7G1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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