CHMP7

protein-coding

charged multivesicular body protein 7, the group of Charged multivesicular body proteins|ESCRT-III associated factors

Gene summary

Involved in several processes, including midbody abscission; mitotic nuclear division; and vacuolar transport. Located in several cellular components, including bounding membrane of organelle; chromosome; and nucleus. Part of ESCRT III complex. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_152272.5

Inheritance

—

ClinVar variants

U:66B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.17

Max pathogenic AF

—

Genomic locus

chr8:23,243,637-23,262,000

External References & Databases

Ensembl (ENSG00000147457)

Transcript & Mutation Effects

hg38 • Region Span ~18.4 kb

Loading mutation effect viewer...

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 CHMP7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 58

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152272.5. 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					2 clinvar	2
missense			62 clinvar			62
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	66	0	2	68

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 34 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152272.5	RefSeq	NP_689485.1	10	MANE Select
ENST00000397677.6	Ensembl	ENSP00000380794.1	10	MANE Select
NM_001317899.2	RefSeq	NP_001304828.1	9	Standard
NM_001363183.2	RefSeq	NP_001350112.1	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Endocytosis - Homo sapiens (human)
Necroptosis - Homo sapiens (human)
Disease
Vesicle-mediated transport
Membrane Trafficking

Biological Process

nucleus organization
mitotic metaphase plate congression
exit from mitosis
protein transport
endosomal transport

Molecular Function

protein binding
protein transporter activity

Cellular Component

chromatin
ESCRT III complex
nucleus
nuclear envelope
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000397677
Coding exons: 10
Length: 18363
Individuals with no LoFs: 125738
Homozygous LoFs: 0
Heterozygous LoFs: 10
Defined: 125748
p: 0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.50	191	259	0.737	0.0000141	2925
Missense (PolyPhen)		26	50.308	0.51682		627
Synonymous	0.0840	103	104	0.990	0.00000539	903
Loss of Function	3.80	4	24.1	0.166	0.00000126	269

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000066	0.000054	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000053	0.000053	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: ESCRT-III-like protein required to recruit the ESCRT-III complex to the nuclear envelope during late anaphase (PubMed:26040712). Together with SPAST, the ESCRT-III complex promotes nuclear envelope sealing and mitotic spindle disassembly during late anaphase (PubMed:26040712). Plays a role in the endosomal sorting pathway (PubMed:16856878). {ECO:0000269|PubMed:16856878, ECO:0000269|PubMed:26040712}.;

Recessive Scores

pRec: 0.107

Intolerance Scores

LoFtool: 0.163
RVIS EVS: -0.36
RVIS percentile EVS: 28.63

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Indispensability pred.: E
Indispensability score: 0.855

Gene Damage Prediction

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