TMEM132B

transmembrane protein 132B

Basic information

Region (hg38): 12:125186385-125662377

Links

ENSG00000139364 ∙ NCBI:114795 ∙ OMIM:620260 ∙ HGNC:29397 ∙ Uniprot:Q14DG7 ∙ 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 TMEM132B gene.

• Inborn genetic diseases (46 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM132B 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			43	3	1	47
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	43	3	1

Variants in TMEM132B

This is a list of pathogenic ClinVar variants found in the TMEM132B region.

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

Position	Type	Phenotype	Significance	ClinVar
12-125326657-G-T		not specified	Likely benign (Sep 26, 2023)
12-125326673-G-A		not specified	Uncertain significance (Feb 13, 2024)
12-125349497-C-T		not specified	Uncertain significance (Jan 23, 2023)
12-125349503-C-G		not specified	Uncertain significance (Aug 11, 2022)
12-125349535-A-G		not specified	Likely benign (Dec 14, 2022)
12-125349565-G-A		not specified	Uncertain significance (Apr 06, 2022)
12-125349611-A-C		not specified	Uncertain significance (Jun 01, 2023)
12-125349640-C-G		not specified	Uncertain significance (Oct 05, 2023)
12-125349641-C-A		not specified	Uncertain significance (Feb 15, 2023)
12-125349661-T-C		not specified	Uncertain significance (Mar 31, 2023)
12-125349685-A-T		not specified	Uncertain significance (Jun 13, 2022)
12-125349734-A-G		not specified	Uncertain significance (Apr 11, 2023)
12-125349922-C-T		not specified	Uncertain significance (Mar 06, 2023)
12-125349983-G-A		not specified	Uncertain significance (Oct 12, 2022)
12-125350040-C-T		not specified	Uncertain significance (May 25, 2022)
12-125350058-C-T		not specified	Uncertain significance (Aug 02, 2021)
12-125350145-C-T		not specified	Uncertain significance (Dec 26, 2023)
12-125350150-C-A		not specified	Uncertain significance (Oct 24, 2023)
12-125350216-T-C		not specified	Uncertain significance (Oct 27, 2023)
12-125350237-G-A		not specified	Uncertain significance (Dec 15, 2022)
12-125350285-A-G		not specified	Uncertain significance (Jun 18, 2021)
12-125350286-C-T		not specified	Uncertain significance (Dec 01, 2022)
12-125415563-C-T		not specified	Uncertain significance (Nov 17, 2022)
12-125415593-C-A		not specified	Uncertain significance (Nov 07, 2022)
12-125415629-C-T		not specified	Uncertain significance (May 26, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM132B	protein_coding	protein_coding	ENST00000299308	9	475536

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.999	0.00124	124786	0	6	124792	0.0000240

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.47	505	607	0.832	0.0000341	7116
Missense in Polyphen		156	208.31	0.74887		2553
Synonymous	-0.187	258	254	1.01	0.0000163	2130
Loss of Function	5.25	5	41.5	0.121	0.00000232	447

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000647	0.0000646
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000445	0.0000441
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.357
• rvis_EVS: -1.68
• rvis_percentile_EVS: 2.68

Haploinsufficiency Scores

• pHI: 0.164
• hipred: Y
• hipred_score: 0.546
• ghis: 0.585

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.202

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem132b

Gene ontology

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