Adamts2 MGI Mouse Gene Detail - MGI:1347356 - ADAM metallopeptidase with thrombospondin type 1 motif 2

Symbol

Adamts2
Name

ADAM metallopeptidase with thrombospondin type 1 motif 2
Synonyms

ADAM-TS2, a disintegrin and metalloproteinase with thrombospondin repeats, hPCPNI, procollagen N-proteinase

Feature Type

protein coding gene
IDs

MGI:1347356
NCBI Gene: 216725
Alliance

gene page
Transcription Start Sites

9 TSS

Sequence Map

Chr11:50492912-50698400 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 30.78 cM
Mapping Data

2 experiments

SNPs within 2kb

5880 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1347356	protein coding gene	Chr11:50492911-50698400 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018251	protein coding gene	Chr11:49786738-49999665 (+)
A/J	MGP_AJ_G0018219	protein coding gene	Chr11:47885813-48091639 (+)
AKR/J	MGP_AKRJ_G0018189	protein coding gene	Chr11:49394001-49604726 (+)
BALB/cJ	MGP_BALBcJ_G0018189	protein coding gene	Chr11:48167325-48378611 (+)
C3H/HeJ	MGP_C3HHeJ_G0018002	protein coding gene	Chr11:49389375-49601663 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018640	protein coding gene	Chr11:51253944-51466739 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016293	protein coding gene	Chr11:45487396-45692271 (+)
CAST/EiJ	MGP_CASTEiJ_G0017564	protein coding gene	Chr11:49398368-49616865 (+)
CBA/J	MGP_CBAJ_G0017977	protein coding gene	Chr11:53626795-53857696 (+)
DBA/2J	MGP_DBA2J_G0018084	protein coding gene	Chr11:47665477-47877499 (+)
FVB/NJ	MGP_FVBNJ_G0018078	protein coding gene	Chr11:47304786-47514439 (+)
LP/J	MGP_LPJ_G0018159	protein coding gene	Chr11:50155212-50368005 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018103	protein coding gene	Chr11:55141397-55353301 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018684	protein coding gene	Chr11:49500380-49708803 (+)
PWK/PhJ	MGP_PWKPhJ_G0017342	protein coding gene	Chr11:48073840-48279495 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017137	protein coding gene	Chr11:49214775-49431207 (+)
WSB/EiJ	MGP_WSBEiJ_G0017617	protein coding gene	Chr11:49137457-49351360 (+)

Human Ortholog

ADAMTS2, ADAM metallopeptidase with thrombospondin type 1 motif 2

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ADAMTS2, ADAM metallopeptidase with thrombospondin type 1 motif 2
Synonyms

ADAM-TS2, ADAMTS-2, ADAMTS-3, EDSDERMS, NPI, PC I-NP, PCI-NP, PCINP, PCPNI, PNPI
Links

HGNC:218

NCBI Gene ID: 9509

neXtProt AC: NX_O95450

UniProt: O95450
Chr Location

5q35.3; chr5:179110853-179345461 (-) GRCh38

MGI Vertebrate Homology

Adamts2 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: ADAMTS2
Gene Tree

Adamts2

Diseases

2 with human ADAMTS2 associations

				Human Disease	Mouse Models
				Ehlers-Danlos syndrome IDs Ehlers-Danlos syndrome DOID:13359 DOID:14696 ICD10CM:Q79.6 ICD9CM:756.83 MESH:D004535 NCI:C34568 OMIM:PS130000 UMLS_CUI:C0013720
				Ehlers-Danlos syndrome dermatosparaxis type IDs Ehlers-Danlos syndrome dermatosparaxis type DOID:0080733 OMIM:225410

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

20 phenotypes from 2 alleles in 3 genetic backgrounds
24 phenotypes from multigenic genotypes
21 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

12
Chemically induced (other)

1
Endonuclease-mediated

6
Gene trapped

3
Targeted

2
Genomic Mutations

1 involving Adamts2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

58 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutation of this gene results in a short snout, male infertility, and thin skin that is torn by scratching or handling.

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All GO Annotations

16
GO References

6

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

753
Tissues

40
cDNA Data

10
Literature Summary

15

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA ADAMTS2

Xenbase adamts2

ZFIN adamts2a

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All Sequences

44
RefSeq

2
UniProt

4
CCDS

CCDS24636.1

Ensembl

ENSMUSG00000036545 (Evidence)
NCBI Gene

216725

			Length	Strain/Species	Flank
genomic	216725	NCBI Gene Model \| MGI Sequence Detail	205489	C57BL/6J	± kb
transcript	NM_175643	RefSeq \| MGI Sequence Detail	7265	C57BL/6
polypeptide	Q8C9W3	UniProt \| EBI \| MGI Sequence Detail	1213	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000003730 a disintegrin and metalloproteinase with thrombospondin motifs 2

(term hierarchy)
EC

3.4.24.14
InterPro Domains

IPR013273 ADAMTS/ADAMTS-like

IPR045371 ADAMTS/ADAMTS-like, cysteine-rich domain 3

IPR010294 ADAMTS/ADAMTS-like, Spacer 1

IPR050439 ADAMTS and ADAMTS-like

IPR041645 ADAMTS, cysteine-rich domain 2

IPR024079 Metallopeptidase, catalytic domain superfamily

IPR001590 Peptidase M12B, ADAM/reprolysin

IPR013275 Peptidase M12B, ADAM-TS2

IPR002870 Peptidase M12B, propeptide

IPR010909 PLAC

IPR000884 Thrombospondin type-1 (TSP1) repeat

IPR036383 Thrombospondin type-1 (TSP1) repeat superfamily
GlyGen

Q8C9W3 9 sites, 3 N-linked glycans (4 sites)

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All nucleic 12

cDNA 10

Primer pair 2

Microarray probesets 4

Summaries

All 56

Developmental Gene Expression 15

Gene Ontology 6

Phenotypes 21
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:351385 Kaneko N, et al., ADAMTS2 promotes radial migration by activating TGF-beta signaling in the developing neocortex. EMBO Rep. 2024 Jul;25(7):3090-3115

TSS for Adamts2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr101259	Chr11:50492834-50492894 (+)	-48 bp
Tssr101260	Chr11:50492899-50492921 (+)	-2 bp
Tssr101261	Chr11:50492926-50492933 (+)	18 bp
Tssr101262	Chr11:50494196-50494207 (+)	1,290 bp
Tssr101263	Chr11:50502123-50502125 (+)	9,212 bp
Tssr101264	Chr11:50663040-50663041 (+)	170,129 bp
Tssr101265	Chr11:50684442-50684455 (+)	191,537 bp
Tssr101266	Chr11:50684539-50684556 (+)	191,636 bp
Tssr101267	Chr11:50684759-50684809 (+)	191,872 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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