ANGPTL6

protein-coding

angiopoietin like 6, the group of Angiopoietin like family|Fibrinogen C domain containing

Gene summary

Predicted to enable signaling receptor binding activity. Predicted to be involved in angiogenesis; blood coagulation; and cell differentiation. Located in extracellular exosome and extracellular matrix. Biomarker of gestational diabetes. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_031917.3

Inheritance

ClinVar variants

U:95B:8

Top phenotype

brain aneurysm

gnomAD constraint

pLI —, LoF o/e 0.76

Max pathogenic AF

—

Genomic locus

chr19:10,092,338-10,102,678

External References & Databases

Ensembl (ENSG00000130812)

Transcript & Mutation Effects

hg38 • Region Span ~10.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

brain aneurysmSTRONG

Inheritance Pattern: AD

Disease ID:MONDO:0005291

Submitter: PanelApp Australia

intracranial berry aneurysmSUPPORTIVE

Inheritance Pattern: AD

Disease ID:MONDO:0016483

Submitter: Orphanet

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ANGPTL6 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 91

not providedTotal: 11

ANGPTL6-related disorderTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_031917.3. 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				3 clinvar	1 clinvar	4
missense			93 clinvar	1 clinvar	2 clinvar	96
nonsense			1 clinvar	1 clinvar		2
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	95	5	3	103

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 26 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_031917.3	RefSeq	NP_114123.2	5	MANE Select
ENST00000253109.5	Ensembl	ENSP00000253109.3	5	MANE Select
NM_001321411.2	RefSeq	NP_001308340.1	5	Standard
NM_001387347.1	RefSeq	NP_001374276.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

angiogenesis
cell differentiation

Cellular Component

secretory granule
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000253109
Coding exons: 5
Length: 10459
Individuals with no LoFs: 125545
Homozygous LoFs: 0
Heterozygous LoFs: 203
Defined: 125748
p: 0.000807

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.568	198	222	0.893	0.0000136	2916
Missense (PolyPhen)		95	103.01	0.92227		1161
Synonymous	2.27	64	91.6	0.699	0.00000524	1015
Loss of Function	0.939	14	18.3	0.763	0.00000105	187

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00018	0.00018	rare
Latino/Admixed American	0.0014	0.0014	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00049	0.00049	rare
Finnish	0.000093	0.000092	rare
European (Non-Finnish)	0.00095	0.00095	rare
South Asian	0.00098	0.00098	rare
Other	0.00065	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in the wound healing process. May promote epidermal proliferation, remodeling and regeneration. May promote the chemotactic activity of endothelial cells and induce neovascularization. May counteract high-fat diet-induced obesity and related insulin resistance through increased energy expenditure.;

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.635

Gene Damage Prediction

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