TMEM150C

transmembrane protein 150C

Basic information

Region (hg38): 4:82483170-82562357

Links

ENSG00000249242 ∙ NCBI:441027 ∙ OMIM:617292 ∙ HGNC:37263 ∙ Uniprot:B9EJG8 ∙ 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 TMEM150C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM150C 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			4			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	0	0

Variants in TMEM150C

This is a list of pathogenic ClinVar variants found in the TMEM150C region.

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

Position	Type	Phenotype	Significance	ClinVar
4-82485656-A-G		not specified	Uncertain significance (Aug 10, 2024)
4-82485660-C-T		not specified	Uncertain significance (Oct 12, 2024)
4-82485665-C-A		not specified	Uncertain significance (Dec 02, 2024)
4-82490103-G-A		not specified	Uncertain significance (May 07, 2024)
4-82490128-A-T		not specified	Uncertain significance (Jun 17, 2024)
4-82490201-G-A		not specified	Uncertain significance (Jun 18, 2024)
4-82490211-C-T		not specified	Uncertain significance (Mar 28, 2023)
4-82496168-A-G		not specified	Uncertain significance (Nov 18, 2022)
4-82504612-A-G		not specified	Uncertain significance (Jan 07, 2022)
4-82504636-C-G		not specified	Uncertain significance (Nov 25, 2024)
4-82504636-C-T		not specified	Uncertain significance (May 02, 2024)
4-82504638-C-T		not specified	Uncertain significance (Oct 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM150C	protein_coding	protein_coding	ENST00000515780	7	79188

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0131	0.958	124624	0	9	124633	0.0000361

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.52	86	136	0.632	0.00000707	1613
Missense in Polyphen		17	44.18	0.38479		507
Synonymous	-0.0544	54	53.5	1.01	0.00000301	481
Loss of Function	1.90	5	12.1	0.412	5.12e-7	155

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000310	0.0000310
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000719	0.0000708
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of a mechanosensitive cation channel. Confers mechanically activated (MA) currents with slow inactivation kinetics. May contribute to proprioception. {ECO:0000250|UniProtKB:Q8C8S3}.

Intolerance Scores

• loftool: 0.780
• rvis_EVS: 0.08
• rvis_percentile_EVS: 60.09

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.404
• ghis: 0.488

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem150c

Gene ontology

• Biological process: regulation of autophagy;proprioception;transmembrane transport;cellular response to mechanical stimulus
• Cellular component: lysosome;lysosomal membrane;integral component of plasma membrane
• Molecular function: mechanosensitive ion channel activity