NCOA7

protein-coding

nuclear receptor coactivator 7, the group of TLDc domain containing

Gene summary

Enables nuclear receptor binding activity and transcription coactivator activity. Involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in mitochondrion. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_181782.5

Inheritance

—

ClinVar variants

U:124B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.35

Max pathogenic AF

—

Genomic locus

chr6:125,781,161-125,932,034

External References & Databases

Ensembl (ENSG00000111912)

Transcript & Mutation Effects

hg38 • Region Span ~150.9 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 NCOA7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 121

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_181782.5. 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			1 clinvar	2 clinvar		3
missense			123 clinvar	2 clinvar		125
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	124	4	0	128

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 49 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_181782.5	RefSeq	NP_861447.3	15	MANE Select
ENST00000392477.7	Ensembl	ENSP00000376269.2	15	MANE Select
NM_001122842.3	RefSeq	NP_001116314.1	15	Standard
NM_001199619.2	RefSeq	NP_001186548.1	15	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Aryl Hydrocarbon Receptor
Validated nuclear estrogen receptor alpha network

Biological Process

positive regulation of transcription by RNA polymerase II
negative regulation of peptidyl-cysteine S-nitrosylation
negative regulation of oxidative stress-induced neuron death

Molecular Function

protein binding
nuclear receptor transcription coactivator activity
nuclear hormone receptor binding

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000368357
Coding exons: 15
Length: 149960
Individuals with no LoFs: 125706
Homozygous LoFs: 0
Heterozygous LoFs: 42
Defined: 125748
p: 0.000167

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.563	463	498	0.929	0.0000251	6219
Missense (PolyPhen)		139	201.28	0.69059		2587
Synonymous	2.07	151	187	0.807	0.0000101	1744
Loss of Function	4.23	17	48.9	0.348	0.00000296	574

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000061	0.000058	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00011	0.00011	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00028	0.00027	rare
South Asian	0.000067	0.000065	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Enhances the transcriptional activities of several nuclear receptors. Involved in the coactivation of different nuclear receptors, such as ESR1, THRB, PPARG and RARA. {ECO:0000269|PubMed:11971969}.;

Recessive Scores

pRec: 0.0933

Intolerance Scores

LoFtool: 0.811
RVIS EVS: -0.2
RVIS percentile EVS: 39.21

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: E
Indispensability score: 0.777

Gene Damage Prediction

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