TMEM232

transmembrane protein 232, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 5:110289232-110738956

Links

ENSG00000186952 ∙ NCBI:642987 ∙ OMIM:620143 ∙ HGNC:37270 ∙ Uniprot:C9JQI7 ∙ 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 TMEM232 gene.

• Inborn genetic diseases (23 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM232 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				1		1
missense			22	1		23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	2	0

Variants in TMEM232

This is a list of pathogenic ClinVar variants found in the TMEM232 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-110420594-T-C		not specified	Uncertain significance (Nov 18, 2023)
5-110420605-A-T		not specified	Uncertain significance (Jan 26, 2023)
5-110420724-T-A		not specified	Uncertain significance (Oct 05, 2023)
5-110424833-A-G		not specified	Uncertain significance (Aug 10, 2021)
5-110424885-A-C		not specified	Uncertain significance (Nov 29, 2021)
5-110528664-T-C		not specified	Uncertain significance (Sep 22, 2023)
5-110528675-T-G		not specified	Uncertain significance (Dec 28, 2023)
5-110528705-G-T		not specified	Uncertain significance (Nov 13, 2023)
5-110528750-T-C		not specified	Uncertain significance (Feb 06, 2023)
5-110528795-C-T		not specified	Uncertain significance (Jan 27, 2022)
5-110568452-C-A		not specified	Uncertain significance (Aug 30, 2021)
5-110568482-C-G		not specified	Uncertain significance (Aug 12, 2021)
5-110605282-A-T		not specified	Uncertain significance (Jan 26, 2022)
5-110605336-T-C		not specified	Uncertain significance (Dec 12, 2023)
5-110606208-C-A		not specified	Likely benign (Jul 21, 2022)
5-110606208-C-T		not specified	Likely benign (Oct 05, 2023)
5-110606267-A-G		not specified	Uncertain significance (Oct 26, 2021)
5-110618446-C-A		not specified	Uncertain significance (Aug 22, 2023)
5-110618456-T-C		not specified	Uncertain significance (Aug 22, 2023)
5-110618466-G-C		not specified	Uncertain significance (Feb 06, 2024)
5-110625287-C-T		not specified	Uncertain significance (Nov 28, 2023)
5-110625298-T-G		not specified	Uncertain significance (Nov 07, 2022)
5-110625311-G-A		not specified	Uncertain significance (May 18, 2023)
5-110625338-C-G		not specified	Uncertain significance (Feb 17, 2024)
5-110625358-G-A		not specified	Uncertain significance (Apr 12, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM232	protein_coding	protein_coding	ENST00000455884	13	449724

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.93e-12	0.430	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0662	253	256	0.988	0.0000117	4293
Missense in Polyphen		68	69.138	0.98354		1164
Synonymous	-0.340	97	92.8	1.04	0.00000462	1161
Loss of Function	1.23	21	28.1	0.748	0.00000150	455

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

Intolerance Scores

• rvis_EVS: 3.26
• rvis_percentile_EVS: 99.39

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: Tmem232

Gene ontology

• Cellular component: integral component of membrane