TMEM205

transmembrane protein 205

Basic information

Region (hg38): 19:11342776-11346518

Links

ENSG00000105518 ∙ NCBI:374882 ∙ OMIM:613771 ∙ HGNC:29631 ∙ Uniprot:Q6UW68 ∙ 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 TMEM205 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM205 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			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	0	0

Variants in TMEM205

This is a list of pathogenic ClinVar variants found in the TMEM205 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-11342864-C-T		not specified	Uncertain significance (May 10, 2024)
19-11342871-C-A		not specified	Uncertain significance (Sep 20, 2023)
19-11342871-C-T		not specified	Uncertain significance (Feb 06, 2023)
19-11342892-A-G		not specified	Uncertain significance (Nov 07, 2022)
19-11342925-G-A		not specified	Uncertain significance (Feb 27, 2023)
19-11342964-G-A		not specified	Uncertain significance (Apr 08, 2024)
19-11343003-C-A		not specified	Uncertain significance (Jul 13, 2022)
19-11343003-C-T		not specified	Uncertain significance (Nov 08, 2022)
19-11343014-C-T		not specified	Uncertain significance (Sep 25, 2023)
19-11343075-G-A		not specified	Uncertain significance (Mar 19, 2024)
19-11345259-G-T		not specified	Uncertain significance (Jun 09, 2022)
19-11345313-T-C		not specified	Uncertain significance (Feb 28, 2024)
19-11345325-C-G		not specified	Uncertain significance (Aug 08, 2023)
19-11345356-A-G		not specified	Uncertain significance (May 05, 2023)
19-11345388-C-T		not specified	Uncertain significance (Aug 21, 2023)
19-11345539-C-T		not specified	Uncertain significance (Feb 26, 2024)
19-11345581-C-T		not specified	Uncertain significance (May 02, 2024)
19-11345594-C-G		not specified	Uncertain significance (Jul 25, 2023)
19-11345613-C-T		not specified	Uncertain significance (May 07, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM205	protein_coding	protein_coding	ENST00000354882	3	3743

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0303	0.929	125731	0	17	125748	0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.311	105	114	0.918	0.00000682	1215
Missense in Polyphen		16	26.293	0.60853		321
Synonymous	1.58	34	47.9	0.709	0.00000278	401
Loss of Function	1.77	4	10.0	0.398	6.86e-7	77

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000177	0.000177
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000710	0.0000703
Middle Eastern	0.00	0.00
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: In cancer cells, plays a role in resistance to the chemotherapeutic agent cisplatin. {ECO:0000269|PubMed:20589834}.

Intolerance Scores

• loftool: 0.250
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.11

Haploinsufficiency Scores

• pHI: 0.148
• hipred: N
• hipred_score: 0.323
• ghis: 0.504

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.575

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem205

Gene ontology

• Cellular component: integral component of membrane