EMC7

protein-coding

ER membrane protein complex subunit 7, the group of ER membrane protein complex subunits

Gene summary

Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C15orf24

MANE transcript

NM_020154.3

Inheritance

—

ClinVar variants

U:27B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.09

Max pathogenic AF

—

Genomic locus

chr15:34,084,017-34,101,862

External References & Databases

Ensembl (ENSG00000134153)

Transcript & Mutation Effects

hg38 • Region Span ~17.8 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 EMC7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 21

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_020154.3. 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			1 clinvar		1 clinvar	2
missense			22 clinvar	1 clinvar		23
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	27	1	1	29

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 23 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_020154.3	RefSeq	NP_064539.1	5	MANE Select
ENST00000256545.9	Ensembl	ENSP00000256545.4	5	MANE Select
ENST00000527822.5	Ensembl	ENSP00000434292.1	4	Standard
ENST00000528949.1	Ensembl	ENSP00000434496.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

biological_process

Molecular Function

carbohydrate binding

Cellular Component

integral component of membrane
ER membrane protein complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000256545
Coding exons: 5
Length: 17932
Individuals with no LoFs: 125714
Homozygous LoFs: 0
Heterozygous LoFs: 3
Defined: 125717
p: 0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.39	90	136	0.664	0.00000637	1564
Missense (PolyPhen)		15	32.866	0.4564		407
Synonymous	0.525	48	52.9	0.908	0.00000266	501
Loss of Function	2.79	1	11.0	0.0911	5.33e-7	129

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000088	0.0000088	rare
South Asian	0.000033	0.000033	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.119

Intolerance Scores

RVIS EVS: 0.44
RVIS percentile EVS: 77.45

Essentials

Essential (CRISPR): E
Essential (CRISPR2): N
Essential (gene trap): E

Gene Damage Prediction

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