Format

Send to:

Choose Destination

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

Gene ID: 116449, updated on 22-Aug-2020

Summary

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
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

Genomic context

See CLNK in Genome Data Viewer
Location:
4p16.1
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (10486395..10734853, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (10491838..10686386, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene reactive intermediate imine deaminase A homolog pseudogene Neighboring gene uncharacterized LOC105374482 Neighboring gene zinc finger protein 518B Neighboring gene uncharacterized LOC105374481 Neighboring gene uncharacterized LOC105374480 Neighboring gene long intergenic non-protein coding RNA 2498 Neighboring gene uncharacterized LOC105374479 Neighboring gene uncharacterized LOC105374488

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
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
GeneReviews: Not available
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
GeneReviews: Not available

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC35197

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_052964.4NP_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
    Q7Z7G1
    Related
    ENSP00000226951.6, ENST00000226951.11
    Conserved Domains (1) summary
    cd09929
    Location:297417
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    10486395..10734853 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513775.2XP_011512077.1  cytokine-dependent hematopoietic cell linker isoform X1

    See identical proteins and their annotated locations for XP_011512077.1

    Related
    ENSP00000390744.3, ENST00000442825.6
    Conserved Domains (1) summary
    cd09929
    Location:312432
    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_017007684.1XP_016863173.1  cytokine-dependent hematopoietic cell linker isoform X2

  3. XM_017007685.1XP_016863174.1  cytokine-dependent hematopoietic cell linker isoform X3

Support Center