ANGPTL5

protein-coding

angiopoietin like 5, the group of Angiopoietin like family|Fibrinogen C domain containing

Gene summary

Predicted to be located in extracellular region. Predicted to be active in extracellular matrix and obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_178127.5

Inheritance

—

ClinVar variants

U:46B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.85

Max pathogenic AF

—

Genomic locus

chr11:101,890,674-101,916,522

External References & Databases

Ensembl (ENSG00000187151)

Transcript & Mutation Effects

hg38 • Region Span ~25.8 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 ANGPTL5 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 52

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_178127.5. 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						0
missense			45 clinvar		1 clinvar	46
nonsense			1 clinvar			1
start loss						0
frameshift					1 clinvar	1
splice donor/acceptor (+/-2bp)						0
Total	0	0	46	0	2	48

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 18 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_178127.5	RefSeq	NP_835228.2	8	MANE Select
ENST00000334289.7	Ensembl	ENSP00000335255.3	8	MANE Select
ENST00000534527.1	Ensembl	ENSP00000433562.1	5	Standard
ENST00000862061.1	Ensembl	ENSP00000532120.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

Cellular Component

extracellular region

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000334289
Coding exons: 8
Length: 25849
Individuals with no LoFs: 125185
Homozygous LoFs: 6
Heterozygous LoFs: 557
Defined: 125748
p: 0.00224

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.472	219	200	1.09	0.00000948	2576
Missense (PolyPhen)		57	56.786	1.0038		775
Synonymous	-0.246	72	69.4	1.04	0.00000351	678
Loss of Function	0.586	16	18.7	0.854	8.75e-7	241

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00043	0.00043	rare
Latino/Admixed American	0.00023	0.00023	rare
Ashkenazi Jewish	0.0014	0.0014	notable
East Asian	0.026	0.026	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.00021	0.00021	rare
South Asian	0.00078	0.00078	rare
Other	0.0011	0.0011	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.107

Intolerance Scores

LoFtool: 0.628
RVIS EVS: 0.37
RVIS percentile EVS: 75.43

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.386

Gene Damage Prediction

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