TMEM208

transmembrane protein 208

Basic information

Region (hg38): 16:67227103-67229278

Links

ENSG00000168701 ∙ NCBI:29100 ∙ ∙ HGNC:25015 ∙ Uniprot:Q9BTX3 ∙ 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 TMEM208 gene.

• not_specified (25 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM208 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014187.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			25			25
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	25	0	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM208	protein_coding	protein_coding	ENST00000304800	6	2176

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00151	0.888	124621	0	41	124662	0.000164

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.569	86	102	0.842	0.00000601	1112
Missense in Polyphen		26	35.31	0.73634		437
Synonymous	-0.350	41	38.2	1.07	0.00000203	337
Loss of Function	1.39	6	10.9	0.548	5.66e-7	116

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000423	0.000423
Ashkenazi Jewish	0.00	0.00
East Asian	0.000392	0.000389
Finnish	0.00	0.00
European (Non-Finnish)	0.000169	0.000159
Middle Eastern	0.000392	0.000389
South Asian	0.000101	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May function as a negative regulator of endoplasmic reticulum-stress induced autophagy. {ECO:0000269|PubMed:23691174}.

Recessive Scores

• pRec: 0.109

Intolerance Scores

• loftool: 0.669
• rvis_EVS: -0.12
• rvis_percentile_EVS: 44.54

Haploinsufficiency Scores

• pHI: 0.426
• hipred: Y
• hipred_score: 0.530
• ghis: 0.606

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.755

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem208

Gene ontology

• Biological process: vacuolar protein processing;autophagy
• Cellular component: vacuole;endoplasmic reticulum membrane;integral component of membrane