TMEM225

transmembrane protein 225, the group of Protein phosphatase 1 regulatory subunits

Basic information

Region (hg38): 11:123882919-123885670

Links

ENSG00000204300 ∙ NCBI:338661 ∙ ∙ HGNC:32390 ∙ Uniprot:Q6GV28 ∙ 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 TMEM225 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM225 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			9	2		11
nonsense						0
start loss				1		1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	3	0

Variants in TMEM225

This is a list of pathogenic ClinVar variants found in the TMEM225 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-123883171-T-G		not specified	Uncertain significance (Apr 15, 2024)
11-123883197-G-A		not specified	Uncertain significance (Aug 18, 2023)
11-123883200-C-T		not specified	Uncertain significance (Dec 02, 2021)
11-123883203-G-A		not specified	Uncertain significance (Oct 29, 2021)
11-123883266-A-T		not specified	Uncertain significance (Mar 25, 2024)
11-123883301-A-C		not specified	Uncertain significance (Oct 12, 2021)
11-123884606-G-A		not specified	Likely benign (Nov 14, 2023)
11-123884611-C-T		not specified	Uncertain significance (Jul 08, 2022)
11-123885316-A-G		not specified	Uncertain significance (Jan 10, 2023)
11-123885346-C-A		not specified	Uncertain significance (Sep 13, 2023)
11-123885365-C-T		not specified	Likely benign (Feb 07, 2023)
11-123885385-A-G		not specified	Uncertain significance (Dec 19, 2022)
11-123885425-T-C			Likely benign (Feb 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM225	protein_coding	protein_coding	ENST00000375026	4	2717

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00162	0.712	125242	0	2	125244	0.00000798

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.337	111	121	0.914	0.00000602	1492
Missense in Polyphen		20	24.729	0.80877		333
Synonymous	-0.950	53	44.9	1.18	0.00000245	414
Loss of Function	0.798	5	7.33	0.682	3.11e-7	89

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000616	0.0000616
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000899	0.00000884
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probably inhibits protein phosphatase 1 (PP1) in sperm via binding to catalytic subunit PPP1CC. {ECO:0000250|UniProtKB:Q9D9S2}.

Intolerance Scores

• loftool: 0.501
• rvis_EVS: 1.02
• rvis_percentile_EVS: 90.86

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.173

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 3.55e-9

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem225

Gene ontology

• Biological process: negative regulation of phosphatase activity
• Cellular component: acrosomal membrane;integral component of membrane