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

Gene ID: 116449, updated on 11-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (10486395..10734846, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (10462366..10710706, complement)
105.20220307 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
  • 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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Related articles in PubMed

  1. MIST functions through distinct domains in immunoreceptor signaling in the presence and absence of LAT. Goitsuka R, et al. J Biol Chem, 2001 Sep 21. PMID 11463797
  2. WDR1 and CLNK gene polymorphisms correlate with serum glucose and high-density lipoprotein levels in Tibetan gout patients. Lan B, et al. Rheumatol Int, 2016 Mar. PMID 26438387
  3. Genetic variations in the CLNK gene and ZNF518B gene are associated with gout in case-control sample sets. Jin TB, et al. Rheumatol Int, 2015 Jul. PMID 25591661
  4. Clnk, a novel SLP-76-related adaptor molecule expressed in cytokine-stimulated hemopoietic cells. Cao MY, et al. J Exp Med, 1999 Nov 15. PMID 10562326, Free PMC Article
  5. A BASH/SLP-76-related adaptor protein MIST/Clnk involved in IgE receptor-mediated mast cell degranulation. Goitsuka R, et al. Int Immunol, 2000 Apr. PMID 10744659

See all (16) citations in PubMed

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)

Genotypes

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_2023_10

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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