NEMP1

protein-coding

nuclear envelope integral membrane protein 1

Gene summary

Involved in nuclear membrane organization. Predicted to be located in nuclear inner membrane. Predicted to be active in nuclear envelope. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

TMEM194
TMEM194A

MANE transcript

NM_001130963.2

Inheritance

—

ClinVar variants

U:58B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.16

Max pathogenic AF

—

Genomic locus

chr12:57,055,643-57,088,063

External References & Databases

Ensembl (ENSG00000166881)

Transcript & Mutation Effects

hg38 • Region Span ~32.4 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 NEMP1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 56

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001130963.2. 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						0
missense			55 clinvar	3 clinvar	2 clinvar	60
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	58	3	2	63

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 32 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001130963.2	RefSeq	NP_001124435.1	9	MANE Select
ENST00000300128.9	Ensembl	ENSP00000300128.4	9	MANE Select
NM_015257.3	RefSeq	NP_056072.2	8	Standard
ENST00000379391.7	Ensembl	ENSP00000368701.3	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

biological_process

Molecular Function

molecular_function

Cellular Component

nuclear envelope
nuclear inner membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000300128
Coding exons: 9
Length: 32421
Individuals with no LoFs: 125737
Homozygous LoFs: 0
Heterozygous LoFs: 6
Defined: 125743
p: 0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.07	187	233	0.802	0.0000115	2876
Missense (PolyPhen)		76	95.862	0.79281		1255
Synonymous	-0.148	88	86.3	1.02	0.00000394	869
Loss of Function	3.95	4	25.6	0.156	0.00000157	267

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	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)	0.000018	0.000018	rare
South Asian	0.000066	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 0.84
RVIS percentile EVS: 88.23

Essentials

Essential (gene trap): N