ADAMTSL5

protein-coding

ADAMTS like 5, the group of ADAMTS like

Gene summary

Enables heparin binding activity and microfibril binding activity. Predicted to be involved in extracellular matrix organization. Located in microfibril. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

THSD6

MANE transcript

NM_213604.3

Inheritance

—

ClinVar variants

U:101B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.78

Max pathogenic AF

—

Genomic locus

chr19:1,505,022-1,513,604

External References & Databases

Ensembl (ENSG00000185761)

Transcript & Mutation Effects

hg38 • Region Span ~8.6 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 ADAMTSL5 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 100

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_213604.3. 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			2 clinvar			2
missense			98 clinvar	7 clinvar		105
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	101	7	0	108

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_213604.3	RefSeq	NP_998769.2	11	MANE Select
ENST00000330475.9	Ensembl	ENSP00000327608.3	11	MANE Select
NM_001367197.1	RefSeq	NP_001354126.1	12	Standard
ENST00000395467.6	Ensembl	ENSP00000378850.2	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Post-translational protein modification
Metabolism of proteins
O-glycosylation of TSR domain-containing proteins
O-linked glycosylation

Molecular Function

heparin binding

Cellular Component

microfibril
extracellular region
extracellular matrix

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000330475
Coding exons: 11
Length: 8587
Individuals with no LoFs: 125606
Homozygous LoFs: 0
Heterozygous LoFs: 70
Defined: 125676
p: 0.000279

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.452	304	283	1.08	0.0000181	2926
Missense (PolyPhen)		82	90.642	0.90466		954
Synonymous	0.0773	120	121	0.991	0.00000772	981
Loss of Function	0.984	19	24.2	0.784	0.00000130	241

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00057	0.00055	rare
Latino/Admixed American	0.000093	0.000087	rare
Ashkenazi Jewish	0.00022	0.00020	rare
East Asian	0.00084	0.00082	rare
Finnish	0.000095	0.000092	rare
European (Non-Finnish)	0.00026	0.00025	rare
South Asian	0.00034	0.00033	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in modulation of fibrillin microfibrils in the extracellular matrix (ECM).;

Recessive Scores

pRec: 0.104

Intolerance Scores

LoFtool: 0.894
RVIS EVS: 0.44
RVIS percentile EVS: 77.85

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.409

Gene Damage Prediction

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