TMEM192

transmembrane protein 192

Basic information

Region (hg38): 4:165070608-165208549

Links

ENSG00000170088 ∙ NCBI:201931 ∙ ∙ HGNC:26775 ∙ Uniprot:Q8IY95 ∙ 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 TMEM192 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM192 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 TMEM192

This is a list of pathogenic ClinVar variants found in the TMEM192 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-165079728-T-C		not specified	Uncertain significance (Jan 09, 2024)
4-165079734-C-A		not specified	Uncertain significance (Dec 28, 2023)
4-165079758-C-A		not specified	Uncertain significance (Mar 01, 2024)
4-165079786-T-G		not specified	Uncertain significance (Jul 06, 2021)
4-165085688-A-C		not specified	Uncertain significance (Jan 03, 2024)
4-165100690-T-C		not specified	Uncertain significance (Jun 24, 2022)
4-165100694-C-T		not specified	Uncertain significance (May 21, 2024)
4-165100696-C-T		not specified	Uncertain significance (Jul 09, 2021)
4-165100784-C-A		not specified	Uncertain significance (May 01, 2024)
4-165100784-C-G		not specified	Uncertain significance (Apr 14, 2022)
4-165103002-C-A		not specified	Uncertain significance (May 10, 2022)
4-165103002-C-T		not specified	Uncertain significance (Jan 16, 2024)
4-165103008-C-G		not specified	Uncertain significance (Apr 22, 2022)
4-165103015-G-C		not specified	Uncertain significance (Oct 27, 2023)
4-165103029-T-A		not specified	Uncertain significance (Jan 10, 2022)
4-165103092-G-A		not specified	Uncertain significance (Aug 17, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM192	protein_coding	protein_coding	ENST00000306480	6	134128

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000293	0.550	124759	0	36	124795	0.000144

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0756	146	143	1.02	0.00000712	1751
Missense in Polyphen		40	40.381	0.99057		569
Synonymous	0.699	49	55.6	0.881	0.00000294	537
Loss of Function	0.811	10	13.2	0.759	8.33e-7	150

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000246	0.000246
Ashkenazi Jewish	0.000515	0.000497
East Asian	0.000167	0.000167
Finnish	0.0000929	0.0000928
European (Non-Finnish)	0.000118	0.000115
Middle Eastern	0.000167	0.000167
South Asian	0.000230	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0959

Intolerance Scores

• loftool: 0.401
• rvis_EVS: -0.47
• rvis_percentile_EVS: 23.04

Haploinsufficiency Scores

• pHI: 0.188
• hipred: N
• hipred_score: 0.289
• ghis: 0.594

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.170

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem192

Gene ontology

• Cellular component: nucleus;nucleoplasm;lysosome;lysosomal membrane;endosome;late endosome;endoplasmic reticulum;Golgi apparatus;plasma membrane;integral component of membrane;perinuclear region of cytoplasm
• Molecular function: protein homodimerization activity