COMMD3

protein-coding

COMM domain containing 3, the group of CCC complex|COMM domain containing

Gene summary

Predicted to be involved in endocytic recycling. Predicted to act upstream of or within intracellular copper ion homeostasis. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C10orf8

MANE transcript

NM_012071.4

Inheritance

—

ClinVar variants

U:8B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.65

Max pathogenic AF

—

Genomic locus

chr10:22,316,386-22,320,306

External References & Databases

Ensembl (ENSG00000148444)

Transcript & Mutation Effects

hg38 • Region Span ~3.9 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 COMMD3 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 9

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_012071.4. 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			7 clinvar	1 clinvar		8
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	8	1	0	9

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 30 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_012071.4	RefSeq	NP_036203.1	8	MANE Select
ENST00000376836.8	Ensembl	ENSP00000366032.3	8	MANE Select
ENST00000444869.5	Ensembl	ENSP00000408982.1	6	Standard
ENST00000448361.5	Ensembl	ENSP00000391237.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Neutrophil degranulation
Post-translational protein modification
Metabolism of proteins
Innate Immune System
Immune System

Biological Process

sodium ion transport
neutrophil degranulation

Molecular Function

protein binding

Cellular Component

extracellular region
nucleus
ficolin-1-rich granule lumen

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000376836
Coding exons: 8
Length: 4333
Individuals with no LoFs: 125604
Homozygous LoFs: 0
Heterozygous LoFs: 144
Defined: 125748
p: 0.000573

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.346	113	103	1.10	0.00000496	1270
Missense (PolyPhen)		36	37.129	0.96961		510
Synonymous	-1.73	52	38.3	1.36	0.00000187	360
Loss of Function	1.20	9	13.8	0.651	7.21e-7	157

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0059	0.0057	notable
Latino/Admixed American	0.00020	0.00020	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00032	0.00032	rare
South Asian	0.000098	0.000098	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). May down-regulate activation of NF-kappa-B (PubMed:15799966). Modulates Na(+) transport in epithelial cells by regulation of apical cell surface expression of amiloride-sensitive sodium channel (ENaC) subunits (PubMed:23637203). {ECO:0000269|PubMed:15799966, ECO:0000269|PubMed:23637203, ECO:0000305|PubMed:21778237}.;

Recessive Scores

pRec: 0.115

Intolerance Scores

LoFtool: 0.777
RVIS EVS: 0.08
RVIS percentile EVS: 60.09

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.886

Gene Damage Prediction

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