ANGPTL7

protein-coding

angiopoietin like 7, the group of Angiopoietin like family|Fibrinogen C domain containing|Receptor ligands

Gene summary

Enables identical protein binding activity. Involved in negative regulation of vasculature development involved in avascular cornea development in camera-type eye and regulation of extracellular matrix organization. Located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_021146.4

Inheritance

—

ClinVar variants

U:58B:16

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.25

Max pathogenic AF

—

Genomic locus

chr1:11,189,355-11,195,981

External References & Databases

Ensembl (ENSG00000171819)

Transcript & Mutation Effects

hg38 • Region Span ~6.6 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 ANGPTL7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 60

not providedTotal: 19

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_021146.4. 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				9 clinvar		9
missense			58 clinvar	5 clinvar	2 clinvar	65
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	58	14	2	74

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 5 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_021146.4	RefSeq	NP_066969.1	5	MANE Select
ENST00000376819.4	Ensembl	ENSP00000366015.3	5	MANE Select
ENST00001145570.1	Ensembl	ENSP00000810710.1	5	Standard
XM_017000004.2	RefSeq	XP_016855493.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

response to oxidative stress

Molecular Function

protein binding

Cellular Component

extracellular region

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000376819
Coding exons: 5
Length: 6641
Individuals with no LoFs: 125605
Homozygous LoFs: 0
Heterozygous LoFs: 143
Defined: 125748
p: 0.000569

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.132	201	206	0.974	0.0000123	2297
Missense (PolyPhen)		79	87.037	0.90766		952
Synonymous	-0.475	85	79.6	1.07	0.00000474	634
Loss of Function	-0.967	22	17.6	1.25	8.49e-7	187

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0033	0.0033	notable
Latino/Admixed American	0.00035	0.00035	rare
Ashkenazi Jewish	0.00040	0.00040	rare
East Asian	0.00087	0.00087	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00047	0.00047	rare
South Asian	0.00017	0.00016	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.126

Intolerance Scores

LoFtool: 0.540
RVIS EVS: 0.17
RVIS percentile EVS: 65.76

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.187

Gene Damage Prediction

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