MCTS2

MCTS family member 2

Basic information

Region (hg38): 20:31547379-31569541

Previous symbols: [ "MCTS2P" ]

Links

ENSG00000101898 ∙ NCBI:100101490 ∙ ∙ HGNC:49760 ∙ Uniprot:A0A3B3IRV3 ∙ 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 MCTS2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MCTS2 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

Variants in MCTS2

This is a list of pathogenic ClinVar variants found in the MCTS2 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-31549088-G-A		not specified	Uncertain significance (Oct 30, 2023)
20-31549094-G-A		not specified	Uncertain significance (Mar 07, 2025)
20-31549110-G-A		not specified	Uncertain significance (Feb 12, 2025)
20-31549246-C-T		not specified	Uncertain significance (Jan 10, 2025)
20-31554773-A-G		not specified	Uncertain significance (Mar 25, 2024)
20-31554781-G-A		not specified	Uncertain significance (Dec 20, 2024)
20-31566248-T-G		not specified	Uncertain significance (Oct 25, 2023)
20-31566250-C-T		not specified	Uncertain significance (Dec 22, 2023)
20-31566288-A-C		not specified	Uncertain significance (Oct 16, 2023)
20-31568092-C-T		not specified	Uncertain significance (Jul 17, 2024)
20-31568163-G-A		not specified	Uncertain significance (Oct 01, 2024)
20-31568167-C-G		not specified	Uncertain significance (Jan 24, 2025)
20-31568176-A-C		not specified	Uncertain significance (Jan 03, 2024)
20-31568196-C-T		not specified	Uncertain significance (Jul 27, 2024)
20-31568203-G-A		not specified	Uncertain significance (Aug 28, 2023)
20-31568206-C-T		not specified	Uncertain significance (Oct 21, 2024)
20-31568220-G-A		not specified	Uncertain significance (Apr 22, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.589

Mouse Genome Informatics

• Gene name: Mcts2