TMEM132C

transmembrane protein 132C, the group of MicroRNA protein coding host genes|Protein phosphatase 1 regulatory subunits

Basic information

Region (hg38): 12:128267170-128707911

Links

ENSG00000181234 ∙ NCBI:92293 ∙ ∙ HGNC:25436 ∙ Uniprot:Q8N3T6 ∙ 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 TMEM132C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM132C 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				3		3
missense			89	8	1	98
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	89	11	1

Variants in TMEM132C

This is a list of pathogenic ClinVar variants found in the TMEM132C region.

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

Position	Type	Phenotype	Significance	ClinVar
12-128267416-G-A		not specified	Uncertain significance (Jul 20, 2021)
12-128414746-G-A		not specified	Uncertain significance (Oct 12, 2021)
12-128414763-A-G		not specified	Uncertain significance (Dec 15, 2022)
12-128414774-C-T		not specified	Uncertain significance (Mar 22, 2022)
12-128414785-C-A		not specified	Uncertain significance (Jan 11, 2023)
12-128414823-G-T		not specified	Uncertain significance (Dec 14, 2023)
12-128414863-C-T		not specified	Uncertain significance (May 05, 2023)
12-128414933-A-G		not specified	Uncertain significance (Jul 27, 2022)
12-128414984-T-G		not specified	Uncertain significance (Dec 07, 2021)
12-128414988-G-T		not specified	Uncertain significance (Aug 01, 2023)
12-128415014-A-G		not specified	Likely benign (Jan 30, 2024)
12-128415017-A-T		not specified	Uncertain significance (Mar 29, 2024)
12-128415056-G-A		not specified	Uncertain significance (May 03, 2023)
12-128415076-C-T		not specified	Uncertain significance (Jun 17, 2022)
12-128415103-A-G		not specified	Likely benign (Mar 02, 2023)
12-128415202-C-T		not specified	Uncertain significance (Apr 22, 2022)
12-128415272-C-T		not specified	Uncertain significance (Oct 10, 2023)
12-128415282-C-T		not specified	Likely benign (Dec 26, 2023)
12-128415300-G-C		not specified	Uncertain significance (Jan 19, 2022)
12-128415307-C-G		not specified	Uncertain significance (Jul 20, 2021)
12-128415308-C-T		not specified	Uncertain significance (Oct 06, 2021)
12-128415340-G-A			Benign (Apr 04, 2018)
12-128415397-G-A		not specified	Uncertain significance (Jan 19, 2022)
12-128415446-A-G		not specified	Uncertain significance (Jan 05, 2022)
12-128415453-C-T			Likely benign (Dec 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM132C	protein_coding	protein_coding	ENST00000435159	9	440513

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.639	0.361	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.83	516	647	0.797	0.0000410	7141
Missense in Polyphen		93	145.02	0.64129		1715
Synonymous	0.914	275	295	0.932	0.0000213	2301
Loss of Function	4.29	7	33.9	0.206	0.00000171	397

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.174
• hipred: N
• hipred_score: 0.349

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.292

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem132c

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component;integral component of membrane
• Molecular function: molecular_function