TMEM233

transmembrane protein 233, the group of interferon induced transmembrane protein domain containing

Basic information

Region (hg38): 12:119593774-119643075

Links

ENSG00000224982 ∙ NCBI:387890 ∙ OMIM:618296 ∙ HGNC:37219 ∙ Uniprot:B4DJY2 ∙ 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 TMEM233 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM233 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			6	2		8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	2	0

Variants in TMEM233

This is a list of pathogenic ClinVar variants found in the TMEM233 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-119593858-T-C		not specified	Uncertain significance (Nov 17, 2022)
12-119593933-G-A		not specified	Uncertain significance (Dec 03, 2021)
12-119593946-T-C		not specified	Likely benign (Apr 27, 2023)
12-119593975-G-A		not specified	Uncertain significance (Nov 10, 2022)
12-119593994-C-T		not specified	Uncertain significance (Jan 19, 2024)
12-119629797-A-T		not specified	Uncertain significance (Dec 06, 2022)
12-119629802-G-T		not specified	Uncertain significance (Dec 28, 2023)
12-119640699-T-A		not specified	Likely benign (Nov 03, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM233	protein_coding	protein_coding	ENST00000426426	3	48100

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0906	0.777	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.756	46	62.9	0.732	0.00000330	719
Missense in Polyphen		13	21.575	0.60256		261
Synonymous	0.201	24	25.3	0.949	0.00000144	210
Loss of Function	1.13	2	4.63	0.432	1.97e-7	55

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: 0.1
• rvis_percentile_EVS: 60.96

Haploinsufficiency Scores

• ghis: 0.592

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: Tmem233

Gene ontology

• Cellular component: membrane;integral component of membrane