TMEM234

transmembrane protein 234

Basic information

Region (hg38): 1:32214472-32222359

Previous symbols: [ "C1orf91" ]

Links

ENSG00000160055 ∙ NCBI:56063 ∙ OMIM:620289 ∙ HGNC:28837 ∙ Uniprot:Q8WY98 ∙ 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 TMEM234 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM234 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			3			3
Total	0	0	11	1	0

Variants in TMEM234

This is a list of pathogenic ClinVar variants found in the TMEM234 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-32214797-G-T		not specified	Uncertain significance (Aug 08, 2022)
1-32214929-T-A		not specified	Uncertain significance (Jun 17, 2024)
1-32215454-T-C		not specified	Uncertain significance (Feb 23, 2023)
1-32215460-G-A		not specified	Uncertain significance (Mar 08, 2024)
1-32216929-A-C		not specified	Uncertain significance (Oct 10, 2023)
1-32221169-C-T		not specified	Uncertain significance (Nov 03, 2023)
1-32221175-T-C		not specified	Uncertain significance (Mar 01, 2024)
1-32221871-G-A		not specified	Uncertain significance (Jun 16, 2023)
1-32221885-G-C			Likely benign (May 01, 2022)
1-32221886-G-A		not specified	Uncertain significance (Jan 10, 2022)
1-32221907-T-G		not specified	Uncertain significance (Nov 09, 2021)
1-32222015-T-C		not specified	Uncertain significance (Jul 26, 2022)
1-32222313-A-T		not specified	Uncertain significance (Sep 06, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM234	protein_coding	protein_coding	ENST00000309777	5	7900

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.78e-8	0.0656	125713	0	33	125746	0.000131

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.286	68	75.0	0.907	0.00000337	865
Missense in Polyphen		17	22.696	0.74903		274
Synonymous	0.0816	34	34.6	0.982	0.00000166	316
Loss of Function	-0.708	10	7.86	1.27	4.33e-7	79

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000245	0.000243
Ashkenazi Jewish	0.00	0.00
East Asian	0.000219	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.0000631	0.0000615
Middle Eastern	0.000219	0.000217
South Asian	0.000491	0.000490
Other	0.000335	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.55
• rvis_percentile_EVS: 81.22

Haploinsufficiency Scores

• pHI: 0.0872
• hipred: N
• hipred_score: 0.197
• ghis: 0.425

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: Tmem234
• Phenotype: immune system phenotype; hematopoietic system phenotype

Zebrafish Information Network

• Gene name: tmem234
• Affected structure: pronephric capsular space
• Phenotype tag: abnormal
• Phenotype quality: dilated

Gene ontology

• Cellular component: integral component of membrane
• Molecular function: protein binding