MATK

megakaryocyte-associated tyrosine kinase, the group of Csk family tyrosine kinases|SH2 domain containing

Basic information

Region (hg38): 19:3777970-3802129

Links

ENSG00000007264 ∙ NCBI:4145 ∙ OMIM:600038 ∙ HGNC:6906 ∙ Uniprot:P42679 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MATK gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MATK gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	1	3
missense			26	1		27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	3	1

Variants in MATK

This is a list of pathogenic ClinVar variants found in the MATK region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-3778188-G-A		not specified	Uncertain significance (May 18, 2023)
19-3778215-C-T		not specified	Uncertain significance (Sep 01, 2021)
19-3778220-G-T		not specified	Uncertain significance (Aug 14, 2023)
19-3778292-C-T		not specified	Uncertain significance (May 24, 2024)
19-3778311-C-T		not specified	Uncertain significance (Sep 15, 2021)
19-3778312-G-A			Benign (Jun 27, 2018)
19-3778344-C-T		not specified	Uncertain significance (Oct 25, 2023)
19-3778994-C-T		not specified	Uncertain significance (Mar 16, 2022)
19-3779027-C-T		not specified	Uncertain significance (Nov 18, 2022)
19-3779423-C-T		not specified	Uncertain significance (May 18, 2023)
19-3779436-A-G		not specified	Uncertain significance (Jun 23, 2023)
19-3779541-C-T		not specified	Uncertain significance (Jul 25, 2023)
19-3779576-A-T		not specified	Uncertain significance (Dec 15, 2022)
19-3781643-T-A		not specified	Uncertain significance (Dec 16, 2022)
19-3783168-G-A		not specified	Uncertain significance (Jan 16, 2024)
19-3783837-A-T		not specified	Uncertain significance (Sep 15, 2021)
19-3783873-C-T		not specified	Uncertain significance (Jul 14, 2023)
19-3783875-C-T		not specified	Uncertain significance (Jun 18, 2021)
19-3783896-A-G		not specified	Uncertain significance (Dec 21, 2021)
19-3783900-C-T		not specified	Uncertain significance (Apr 06, 2023)
19-3783926-A-T		not specified	Uncertain significance (Dec 07, 2021)
19-3783937-G-A			Likely benign (May 24, 2018)
19-3783939-G-C		not specified	Uncertain significance (Oct 13, 2023)
19-3783945-G-A		not specified	Uncertain significance (Nov 22, 2023)
19-3784149-C-T		not specified	Likely benign (Jan 03, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MATK	protein_coding	protein_coding	ENST00000395045	13	24157

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000231	0.995	125725	0	21	125746	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.81	249	343	0.725	0.0000238	3234
Missense in Polyphen		84	146.53	0.57327		1330
Synonymous	0.0814	153	154	0.992	0.0000116	1047
Loss of Function	2.53	14	28.6	0.490	0.00000155	291

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000145	0.000145
Ashkenazi Jewish	0.00	0.00
East Asian	0.000276	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.0000730	0.0000703
Middle Eastern	0.000276	0.000272
South Asian	0.0000654	0.0000653
Other	0.000166	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Could play a significant role in the signal transduction of hematopoietic cells. May regulate tyrosine kinase activity of SRC-family members in brain by specifically phosphorylating their C-terminal regulatory tyrosine residue which acts as a negative regulatory site. It may play an inhibitory role in the control of T-cell proliferation. {ECO:0000269|PubMed:9171348}.
• Pathway: Neurotrophin signaling pathway - Homo sapiens (human);Kit receptor signaling pathway;Signal Transduction;KitReceptor;Downregulation of ERBB2 signaling;Signaling by ERBB2;Signaling by Receptor Tyrosine Kinases;Neurotrophic factor-mediated Trk receptor signaling;Signaling events mediated by Stem cell factor receptor (c-Kit) (Consensus)

Intolerance Scores

• loftool: 0.294
• rvis_EVS: -0.55
• rvis_percentile_EVS: 19.8

Haploinsufficiency Scores

• pHI: 0.593
• hipred: Y
• hipred_score: 0.736
• ghis: 0.447

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.975

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Matk
• Phenotype: normal phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: protein phosphorylation;mesoderm development;cell population proliferation;positive regulation of cell population proliferation;peptidyl-tyrosine phosphorylation;ERBB2 signaling pathway;regulation of cell population proliferation
• Cellular component: cytosol;extrinsic component of cytoplasmic side of plasma membrane
• Molecular function: protein tyrosine kinase activity;non-membrane spanning protein tyrosine kinase activity;protein binding;ATP binding