Human Gene CLNK (ENST00000226951.11) from GENCODE V44
  Description: Homo sapiens cytokine dependent hematopoietic cell linker (CLNK), mRNA. (from RefSeq NM_052964)
RefSeq Summary (NM_052964): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Gencode Transcript: ENST00000226951.11
Gencode Gene: ENSG00000109684.16
Transcript (Including UTRs)
   Position: hg38 chr4:10,486,395-10,684,768 Size: 198,374 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg38 chr4:10,490,467-10,667,869 Size: 177,403 Coding Exon Count: 18 

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RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:10,486,395-10,684,768)mRNA (may differ from genome)Protein (428 aa)
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-  Comments and Description Text from UniProtKB
  ID: CLNK_HUMAN
DESCRIPTION: RecName: Full=Cytokine-dependent hematopoietic cell linker; AltName: Full=Mast cell immunoreceptor signal transducer;
FUNCTION: Plays a role in the regulation of immunoreceptor signaling, including PLC-gamma-mediated B-cell antigen receptor (BCR) signaling and FC-epsilon R1-mediated mast cell degranulation. Involved in phosphorylation of LAT (By similarity).
SUBUNIT: When phosphorylated, interacts with PLCG1, PLCG2, GRB2, VAV and LAT (By similarity).
DOMAIN: The N-terminal proline-rich region interacts with the SH3 domain of PLCG1 (By similarity).
DOMAIN: The SH2 domain is important for restoration of BCR-induced calcium response and JNK2 activation in BLNK-deficient DT40 cells expressing LAT (By similarity).
PTM: Tyrosine-phosphorylated upon BCR cross-linking. Tyrosine phosphorylation at both Tyr-69 and Tyr-96 are required for BCR- induced calcium response and are essential to restore PLCG2- mediated signaling in BLNK-deficient DT40 cells, but this phosphorylation is dispensable in cells expressing LAT. Interacts with the SH2 domain of PLCG1 via phosphorylated Tyr-96 (By similarity).
SIMILARITY: Contains 1 SH2 domain.

-  Primer design for this transcript
 

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Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CLNK
Diseases sorted by gene-association score: croup (11), trichotillomania (8), stereotypic movement disorder (8), impulse control disorder (7), gingival recession (7), atrial heart septal defect (6), heart septal defect (5), patent foramen ovale (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.75 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 9.63 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -34.50143-0.241 Picture PostScript Text
3' UTR -1048.074072-0.257 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000980 - SH2

Pfam Domains:
PF00017 - SH2 domain

ModBase Predicted Comparative 3D Structure on Q7Z7G1
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005070 SH3/SH2 adaptor activity
GO:0005515 protein binding

Biological Process:
GO:0006955 immune response
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway
GO:0009967 positive regulation of signal transduction
GO:0035556 intracellular signal transduction

Cellular Component:
GO:0005622 intracellular


-  Descriptions from all associated GenBank mRNAs
  AK093001 - Homo sapiens cDNA FLJ35682 fis, clone SPLEN2019102, highly similar to Homo sapiens mast cell immunoreceptor signal transducer (MIST), mRNA.
AX747849 - Sequence 1374 from Patent EP1308459.
AB110420 - Homo sapiens mRNA for MIST, complete cds.
BC137553 - Homo sapiens cytokine-dependent hematopoietic cell linker, mRNA (cDNA clone MGC:169176 IMAGE:9021553), complete cds.
BC137556 - Homo sapiens cytokine-dependent hematopoietic cell linker, mRNA (cDNA clone MGC:169179 IMAGE:9021556), complete cds.
BC029887 - Homo sapiens cytokine-dependent hematopoietic cell linker, mRNA (cDNA clone IMAGE:5171424), complete cds.
JD444786 - Sequence 425810 from Patent EP1572962.
JD410485 - Sequence 391509 from Patent EP1572962.
JD211878 - Sequence 192902 from Patent EP1572962.
JD343859 - Sequence 324883 from Patent EP1572962.
JD432601 - Sequence 413625 from Patent EP1572962.
JD100876 - Sequence 81900 from Patent EP1572962.
JD140070 - Sequence 121094 from Patent EP1572962.
JD538308 - Sequence 519332 from Patent EP1572962.
JD426599 - Sequence 407623 from Patent EP1572962.
JD409614 - Sequence 390638 from Patent EP1572962.
JD050059 - Sequence 31083 from Patent EP1572962.
JD091052 - Sequence 72076 from Patent EP1572962.
JD284289 - Sequence 265313 from Patent EP1572962.
JD559576 - Sequence 540600 from Patent EP1572962.
JD301867 - Sequence 282891 from Patent EP1572962.
JD099667 - Sequence 80691 from Patent EP1572962.
JD513303 - Sequence 494327 from Patent EP1572962.
AB032369 - Homo sapiens MIST mRNA, partial cds.
JD141361 - Sequence 122385 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: CLNK_HUMAN, ENST00000226951.1, ENST00000226951.10, ENST00000226951.2, ENST00000226951.3, ENST00000226951.4, ENST00000226951.5, ENST00000226951.6, ENST00000226951.7, ENST00000226951.8, ENST00000226951.9, MIST, NM_052964, Q05C27, Q7Z7G1, Q9P2U9, uc003gmo.1, uc003gmo.2, uc003gmo.3, uc003gmo.4, uc003gmo.5, uc003gmo.6
UCSC ID: ENST00000226951.11
RefSeq Accession: NM_052964
Protein: Q7Z7G1 (aka CLNK_HUMAN)
CCDS: CCDS47024.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.