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

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; 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

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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 EBI GWAS CatalogPubMed
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AFMA184ZA9 (e-PCR)
- UniSTS:13860

D11S2560 (e-PCR)
- UniSTS:37928

D4S558 (e-PCR)
- UniSTS:67881

G65115 (e-PCR)
- UniSTS:230729

D4S1214 (e-PCR)
- UniSTS:67161

G48234 (e-PCR)
- UniSTS:95331

D1S1425 (e-PCR)
- UniSTS:149621

SHGC-50469 (e-PCR)
- UniSTS:16328

D4S2928 (e-PCR), detects polymorphism
- UniSTS:17623

RH123284 (e-PCR)
- UniSTS:135661

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)

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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

10486395..10734846 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Alternate T2T-CHM13v2.0

Genomic

NC_060928.1 Alternate T2T-CHM13v2.0

Range

10462366..10710706 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054348851.1 → XP_054204826.1 cytokine-dependent hematopoietic cell linker isoform X1
XM_054348852.1 → XP_054204827.1 cytokine-dependent hematopoietic cell linker isoform X2