NCOA4

nuclear receptor coactivator 4

Basic information

Region (hg38): 10:46005087-46030623

Links

ENSG00000266412 ∙ NCBI:8031 ∙ OMIM:601984 ∙ HGNC:7671 ∙ Uniprot:Q13772 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NCOA4 gene.

• Inborn genetic diseases (15 variants)
• not provided (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NCOA4 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	1	2
missense			15	2	4	21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	3	5

Variants in NCOA4

This is a list of pathogenic ClinVar variants found in the NCOA4 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
10-46009179-C-T		not specified	Uncertain significance (May 22, 2023)
10-46009424-C-T		not specified	Uncertain significance (May 02, 2023)
10-46009427-T-C		not specified	Uncertain significance (Jan 08, 2024)
10-46009517-T-C		not specified	Likely benign (Jan 02, 2024)
10-46010384-C-T		not specified	Likely benign (Jan 17, 2024)
10-46010396-T-C		not specified	Uncertain significance (Sep 26, 2023)
10-46010397-G-C			Benign (Jun 29, 2018)
10-46010437-G-A			Benign (Jun 29, 2018)
10-46010474-C-T			Benign (May 22, 2018)
10-46010581-T-C			not provided (-)
10-46010599-C-T			Benign (Jun 29, 2018)
10-46010611-T-G		not specified	Uncertain significance (Apr 19, 2023)
10-46010638-T-C		not specified	Likely benign (Jan 10, 2022)
10-46010661-C-T			Likely benign (Dec 01, 2022)
10-46010690-T-C		not specified	Uncertain significance (Aug 13, 2021)
10-46010701-T-C		not specified	Uncertain significance (Dec 02, 2021)
10-46010852-C-T		not specified	Uncertain significance (Mar 02, 2023)
10-46010875-T-C		not specified	Uncertain significance (Aug 02, 2023)
10-46010953-T-G		not specified	Uncertain significance (Mar 24, 2023)
10-46010978-G-A		not specified	Uncertain significance (Nov 22, 2021)
10-46011088-G-A		not specified	Uncertain significance (Jan 12, 2024)
10-46011101-T-C		not specified	Uncertain significance (Jun 23, 2023)
10-46011170-C-T		not specified	Uncertain significance (Jun 29, 2023)
10-46011178-T-C			Benign (Jun 29, 2018)
10-46012911-G-A			Benign/Likely benign (Jan 01, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Enhances the androgen receptor transcriptional activity in prostate cancer cells. Ligand-independent coactivator of the peroxisome proliferator-activated receptor (PPAR) gamma. {ECO:0000269|PubMed:10347167}.
• Pathway: Pathways in cancer - Homo sapiens (human);Ferroptosis - Homo sapiens (human);Thyroid cancer - Homo sapiens (human);Androgen receptor signaling pathway;Exercise-induced Circadian Regulation;AndrogenReceptor;Coregulation of Androgen receptor activity (Consensus)

Recessive Scores

• pRec: 0.292

Intolerance Scores

• loftool: 0.729
• rvis_EVS: 1.46
• rvis_percentile_EVS: 95.21

Haploinsufficiency Scores

• pHI: 0.560
• hipred: N
• hipred_score: 0.270

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.988

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ncoa4
• Phenotype: homeostasis/metabolism phenotype; cellular phenotype

Zebrafish Information Network

• Gene name: ncoa4
• Affected structure: nucleate erythrocyte
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: protein targeting to lysosome;cellular iron ion homeostasis;male gonad development;androgen receptor signaling pathway;positive regulation of transcription, DNA-templated
• Cellular component: nucleus;autolysosome
• Molecular function: transcription coactivator activity;androgen receptor binding