MATCAP2

microtubule associated tyrosine carboxypeptidase 2

Basic information

Region (hg38): 7:36324152-36390125

Previous symbols: [ "KIAA0895" ]

Links

ENSG00000164542 ∙ NCBI:23366 ∙ OMIM:619896 ∙ HGNC:22206 ∙ Uniprot:Q8NCT3 ∙ 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 MATCAP2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MATCAP2 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						0
missense			19	5		24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				3		3
Total	0	0	19	8	0

Variants in MATCAP2

This is a list of pathogenic ClinVar variants found in the MATCAP2 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-36326822-G-A		not specified	Uncertain significance (Oct 21, 2021)
7-36333889-C-T		not specified	Uncertain significance (Sep 29, 2023)
7-36334072-G-C		not specified	Uncertain significance (Apr 23, 2024)
7-36335078-T-C		not specified	Uncertain significance (Dec 22, 2023)
7-36335085-G-A		not specified	Uncertain significance (Feb 23, 2023)
7-36335093-G-C		not specified	Likely benign (Mar 02, 2023)
7-36356907-T-G		not specified	Uncertain significance (Jan 17, 2023)
7-36357036-T-C		not specified	Uncertain significance (Sep 16, 2021)
7-36357053-A-G		not specified	Uncertain significance (Dec 21, 2022)
7-36357059-C-T		not specified	Uncertain significance (Oct 26, 2022)
7-36357126-G-C		not specified	Uncertain significance (Dec 28, 2022)
7-36357131-G-A		not specified	Uncertain significance (Feb 12, 2024)
7-36357228-T-G		not specified	Uncertain significance (May 26, 2023)
7-36357260-C-T		not specified	Likely benign (Feb 22, 2023)
7-36357326-T-C		not specified	Uncertain significance (Jul 14, 2021)
7-36357377-G-A		not specified	Uncertain significance (Apr 25, 2023)
7-36357395-T-C		not specified	Uncertain significance (Jun 23, 2023)
7-36357416-T-G		not specified	Uncertain significance (Feb 16, 2023)
7-36357474-C-A		not specified	Uncertain significance (Dec 07, 2021)
7-36389688-C-G			Likely benign (Dec 29, 2019)
7-36389691-G-A			Likely benign (Nov 10, 2018)
7-36389826-G-T			Likely benign (Jan 01, 2022)
7-36390026-G-T		not specified	Uncertain significance (Jul 06, 2021)
7-36390034-C-T			Likely benign (Nov 17, 2023)
7-36390035-G-C		ANLN-related disorder	Likely benign (Apr 29, 2020)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MATCAP2	protein_coding	protein_coding	ENST00000297063	7	65905

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.33e-8	0.881	125702	0	46	125748	0.000183

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.55	209	282	0.741	0.0000143	3411
Missense in Polyphen		76	113.85	0.66754		1392
Synonymous	1.78	78	101	0.775	0.00000495	1001
Loss of Function	1.66	15	23.7	0.633	0.00000133	277

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00117	0.00116
Ashkenazi Jewish	0.00	0.00
East Asian	0.000559	0.000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000884	0.0000879
Middle Eastern	0.000559	0.000544
South Asian	0.000132	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.255
• rvis_EVS: -0.09
• rvis_percentile_EVS: 46.92

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.432
• ghis: 0.516

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.142

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: 9530077C05Rik