ADAMTS7

protein-coding

ADAM metallopeptidase with thrombospondin type 1 motif 7, the group of ADAM metallopeptidases with thrombospondin type 1 motif

Gene summary

The protein encoded by this gene is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs and may regulate vascular smooth muscle cell (VSMC) migration. Mutations in this gene may be associated with susceptibility to coronary artery disease. [provided by RefSeq, Feb 2016]

MANE transcript

NM_014272.5

Inheritance

—

ClinVar variants

U:332B:46

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.49

Max pathogenic AF

—

Genomic locus

chr15:78,759,206-78,811,464

External References & Databases

Ensembl (ENSG00000136378)

Transcript & Mutation Effects

hg38 • Region Span ~52.3 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 ADAMTS7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 338

not providedTotal: 26

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014272.5. 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			5 clinvar	14 clinvar	2 clinvar	21
missense			324 clinvar	29 clinvar	1 clinvar	354
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	332	43	3	378

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 30 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014272.5	RefSeq	NP_055087.2	24	MANE Select
ENST00000388820.5	Ensembl	ENSP00000373472.4	24	MANE Select
ENST00000917170.1	Ensembl	ENSP00000587229.1	16	Standard
ENST00000917170.2	Ensembl	ENSP00000587229.1	16	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

Biological Process

negative regulation of chondrocyte differentiation
proteolysis involved in cellular protein catabolic process
cellular response to interleukin-1
cellular response to tumor necrosis factor
cellular response to BMP stimulus

Molecular Function

metalloendopeptidase activity
protein binding
metallopeptidase activity
metal ion binding

Cellular Component

extracellular region
endoplasmic reticulum lumen
cell surface

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000388820
Coding exons: 24
Length: 52229
Individuals with no LoFs: 125653
Homozygous LoFs: 1
Heterozygous LoFs: 94
Defined: 125748
p: 0.000378

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.711	960	1.02e+3	0.937	0.0000702	10648
Missense (PolyPhen)		297	371.93	0.79853		4014
Synonymous	-1.09	468	439	1.07	0.0000325	3477
Loss of Function	4.03	35	71.9	0.487	0.00000367	743

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00051	0.00049	rare
Latino/Admixed American	0.00027	0.00023	rare
Ashkenazi Jewish	0.00073	0.00069	rare
East Asian	0.00050	0.00049	rare
Finnish	0.000096	0.000092	rare
European (Non-Finnish)	0.00036	0.00035	rare
South Asian	0.00057	0.00052	rare
Other	0.00082	0.00081	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Metalloprotease that may play a role in the degradation of COMP. {ECO:0000269|PubMed:16585064}.;

Recessive Scores

pRec: 0.111

Intolerance Scores

LoFtool: 0.623
RVIS EVS: 2.52
RVIS percentile EVS: 98.68

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.109

Gene Damage Prediction

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