TMEM92

protein-coding

transmembrane protein 92

Gene summary

Predicted to be located in membrane. Predicted to be active in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_153229.3

Inheritance

ClinVar variants

U:28B:2

Top phenotype

Bilateral squint

gnomAD constraint

pLI —, LoF o/e 0.63

Max pathogenic AF

—

Genomic locus

chr17:50,271,406-50,281,485

External References & Databases

Ensembl (ENSG00000167105)

Transcript & Mutation Effects

hg38 • Region Span ~10.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

nervous system disorderLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0005071

Submitter: Ambry Genetics

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TMEM92 variants in ClinVar

5 Conditions Cataloged

not specifiedTotal: 30

Bilateral squintTotal: 1

HydrocephalusTotal: 1

Global developmental delayTotal: 1

Cerebellar atrophyTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_153229.3. 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						0
missense			28 clinvar	2 clinvar		30
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	28	2	0	30

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 18 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_153229.3	RefSeq	NP_694961.2	5	MANE Select
ENST00000507382.2	Ensembl	ENSP00000425144.1	5	MANE Select
NM_001168215.2	RefSeq	NP_001161687.1	5	Standard
ENST00000300433.7	Ensembl	ENSP00000300433.3	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

nucleus
nucleoplasm
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000300433
Coding exons: 5
Length: 10078
Individuals with no LoFs: 125720
Homozygous LoFs: 0
Heterozygous LoFs: 7
Defined: 125727
p: 0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.290	84	91.8	0.915	0.00000477	1022
Missense (PolyPhen)		20	25.308	0.79027		321
Synonymous	-0.0335	40	39.7	1.01	0.00000227	326
Loss of Function	0.875	4	6.39	0.626	2.70e-7	78

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000036	0.000035	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.648
RVIS EVS: 0.22
RVIS percentile EVS: 67.92

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.358

Gene Damage Prediction

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