TMEM192

protein-coding

transmembrane protein 192

Gene summary

Enables protein homodimerization activity. Located in late endosome; lysosomal membrane; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001100389.2

Inheritance

—

ClinVar variants

U:35B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.76

Max pathogenic AF

—

Genomic locus

chr4:165,070,608-165,208,549

External References & Databases

Ensembl (ENSG00000170088)

Transcript & Mutation Effects

hg38 • Region Span ~137.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TMEM192 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 33

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001100389.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			32 clinvar	1 clinvar		33
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	35	1	0	36

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001100389.2	RefSeq	NP_001093859.1	6	MANE Select
ENST00000306480.11	Ensembl	ENSP00000305069.4	6	MANE Select
ENST00000505095.1	Ensembl	ENSP00000424590.1	3	Standard
ENST00000506087.5	Ensembl	ENSP00000425335.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein homodimerization activity

Cellular Component

nucleus
nucleoplasm
lysosome
lysosomal membrane
endosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000306480
Coding exons: 6
Length: 134128
Individuals with no LoFs: 124759
Homozygous LoFs: 0
Heterozygous LoFs: 36
Defined: 124795
p: 0.000144

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0756	146	143	1.02	0.00000712	1751
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00013	0.00013	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0.00052	0.00050	rare
East Asian	0.00017	0.00017	rare
Finnish	0.000093	0.000093	rare
European (Non-Finnish)	0.00012	0.00011	rare
South Asian	0.00023	0.00023	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0959

Intolerance Scores

LoFtool: 0.401
RVIS EVS: -0.47
RVIS percentile EVS: 23.04

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.170

Gene Damage Prediction

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