TMEM235

transmembrane protein 235

Basic information

Region (hg38): 17:78231309-78240987

Links

ENSG00000204278 ∙ NCBI:283999 ∙ OMIM:620272 ∙ HGNC:27563 ∙ Uniprot:A6NFC5 ∙ 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 TMEM235 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM235 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			16	2		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	2	0

Variants in TMEM235

This is a list of pathogenic ClinVar variants found in the TMEM235 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-78232115-G-C		not specified	Uncertain significance (Feb 26, 2024)
17-78232147-G-A		not specified	Uncertain significance (Nov 21, 2022)
17-78233903-G-A		not specified	Likely benign (Aug 11, 2022)
17-78233913-C-G		not specified	Uncertain significance (Feb 28, 2024)
17-78233933-A-G		not specified	Uncertain significance (Aug 03, 2022)
17-78233948-G-A		not specified	Uncertain significance (Sep 07, 2022)
17-78234598-C-T		not specified	Uncertain significance (Dec 28, 2023)
17-78234601-C-T		not specified	Uncertain significance (Aug 17, 2021)
17-78234643-G-A		not specified	Uncertain significance (Aug 08, 2022)
17-78239066-C-T		not specified	Uncertain significance (Mar 08, 2024)
17-78239081-C-T		not specified	Uncertain significance (Jul 13, 2021)
17-78239111-A-G		not specified	Uncertain significance (Jun 17, 2024)
17-78239122-G-A		not specified	Uncertain significance (May 24, 2023)
17-78239126-G-C		not specified	Uncertain significance (Feb 27, 2023)
17-78239158-T-C		not specified	Uncertain significance (Aug 02, 2023)
17-78239162-G-T		not specified	Uncertain significance (Jun 06, 2022)
17-78239182-T-C		not specified	Likely benign (Mar 06, 2023)
17-78239216-C-T		not specified	Uncertain significance (Mar 29, 2023)
17-78239255-C-T		not specified	Uncertain significance (Jun 30, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM235	protein_coding	protein_coding	ENST00000551068	5	9678

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000458	0.680	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.492	94	108	0.867	0.00000625	1368
Missense in Polyphen		27	43.04	0.62732		536
Synonymous	0.366	48	51.3	0.935	0.00000345	482
Loss of Function	0.789	6	8.48	0.708	3.63e-7	101

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

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: 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: Tmem235

Gene ontology

• Cellular component: endoplasmic reticulum;integral component of membrane;apical plasma membrane