This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like protein family. Members of the 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... See more...

Aliases for ADAMTSL2 Gene

Aliases for ADAMTSL2 Gene

  • ADAMTS Like 2 2 3 5
  • ADAMTS-Like Protein 2 3 4
  • ADAMTSL-2 3 4
  • KIAA0605 4
  • GPHYSD1 3

External Ids for ADAMTSL2 Gene

Previous GeneCards Identifiers for ADAMTSL2 Gene

  • GC09P133426
  • GC09P135387
  • GC09P136397
  • GC09P105898

Summaries for ADAMTSL2 Gene

Entrez Gene Summary for ADAMTSL2 Gene

  • This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like protein family. Members of the 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 protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009]

GeneCards Summary for ADAMTSL2 Gene

ADAMTSL2 (ADAMTS Like 2) is a Protein Coding gene. Diseases associated with ADAMTSL2 include Geleophysic Dysplasia 1 and Geleophysic Dysplasia. Among its related pathways are Metabolism of proteins and O-glycosylation of TSR domain-containing proteins. Gene Ontology (GO) annotations related to this gene include peptidase activity and metalloendopeptidase activity. An important paralog of this gene is ADAMTS9.

Additional gene information for ADAMTSL2 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADAMTSL2 Gene

Genomics for ADAMTSL2 Gene

GeneHancer (GH) Regulatory Elements for ADAMTSL2 Gene

Promoters and enhancers for ADAMTSL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J133533 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +2.6 2576 2.1 TCF7 GABPA ZBTB7A MXI1 EZH2 SAP130 POLR2A BCOR ZMYM3 RCOR1 ADAMTSL2 HSALNG0075019
GH09J133534 Enhancer 1.1 ENCODE dbSUPER 500.7 +1.1 1080 0.2 ZNF217 CTCF TEAD4 PHB2 ZNF639 ZIC2 ZBTB10 ZNF423 REST KLF7 ADAMTSL2 GTF3C4 GTF3C5 DDX31 MED22 WDR5 TSC1 BRD3OS BRD3 RPL7A
GH09J133700 Promoter/Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.7 +170.1 170105 3.6 EZH2 YY1 POLR2A RXRA MAX MAZ ZNF121 SARDH DBH ADAMTSL2 lnc-VAV2-3 lnc-VAV2-4
GH09J133505 Enhancer 1.1 ENCODE CraniofacialAtlas 12.1 -25.8 -25785 2.2 EP300 FOS KDM6A ZBTB25 TGIF2 SKI TEAD1 ZBTB26 ZKSCAN8 FOXA2 ADAMTSL2 MYMK FAM163B LOC102723855
GH09J133583 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 12 +52.7 52736 3.8 EP300 ZIC2 ZNF423 TRIM28 MXI1 ZNF341 OSR2 EZH2 WT1 SMC3 ADAMTSL2 MYMK DBH CACFD1 ADAMTS13 HSALNG0075019 FAM163B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADAMTSL2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ADAMTSL2

Top Transcription factor binding sites by QIAGEN in the ADAMTSL2 gene promoter:
  • FOXD3
  • S8
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for ADAMTSL2 Gene

Genomic Locations for ADAMTSL2 Gene
chr9:133,532,164-133,575,519
(GRCh38/hg38)
Size:
43,356 bases
Orientation:
Plus strand
chr9:136,397,286-136,440,641
(GRCh37/hg19)
Size:
43,356 bases
Orientation:
Plus strand

Genomic View for ADAMTSL2 Gene

Genes around ADAMTSL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAMTSL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAMTSL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAMTSL2 Gene

Proteins for ADAMTSL2 Gene

  • Protein details for ADAMTSL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86TH1-ATL2_HUMAN
    Recommended name:
    ADAMTS-like protein 2
    Protein Accession:
    Q86TH1
    Secondary Accessions:
    • B1B0D5
    • O60345

    Protein attributes for ADAMTSL2 Gene

    Size:
    951 amino acids
    Molecular mass:
    104621 Da
    Quaternary structure:
    • Interacts with LTBP1.
    Miscellaneous:
    • There is a significant increase in total and active TGFB1 in the culture medium as well as nuclear localization of phosphorylated SMAD2 in fibroblasts from individuals with geleophysic dysplasia.
    SequenceCaution:
    • Sequence=BAA25531.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ADAMTSL2 Gene

Post-translational modifications for ADAMTSL2 Gene

  • Glycosylated (By similarity). Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity).
  • Glycosylation at Asn87, Asn367, Asn428, Asn475, Asn511, Asn524, Asn533, Asn544, Asn731, Asn807, and Asn931
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

No data available for DME Specific Peptides for ADAMTSL2 Gene

Domains & Families for ADAMTSL2 Gene

Gene Families for ADAMTSL2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for ADAMTSL2 Gene

Suggested Antigen Peptide Sequences for ADAMTSL2 Gene

GenScript: Design optimal peptide antigens:
  • ADAMTS-like protein 2 (ATL2_HUMAN)
  • ADAMTS-like 2 (B1B0D4_HUMAN)
genes like me logo Genes that share domains with ADAMTSL2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ADAMTSL2 Gene

Function for ADAMTSL2 Gene

Phenotypes From GWAS Catalog for ADAMTSL2 Gene

Gene Ontology (GO) - Molecular Function for ADAMTSL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18677313
GO:0008233 peptidase activity IEA --
GO:0050436 microfibril binding IEA --
genes like me logo Genes that share ontologies with ADAMTSL2: view
genes like me logo Genes that share phenotypes with ADAMTSL2: view

Human Phenotype Ontology for ADAMTSL2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ADAMTSL2 Gene

MGI Knock Outs for ADAMTSL2:

Animal Model Products

miRNA for ADAMTSL2 Gene

miRTarBase miRNAs that target ADAMTSL2

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ADAMTSL2 Gene

Localization for ADAMTSL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAMTSL2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADAMTSL2 gene
Compartment Confidence
extracellular 4
plasma membrane 3
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1
peroxisome 0
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ADAMTSL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0031012 extracellular matrix IEA --
genes like me logo Genes that share ontologies with ADAMTSL2: view

Pathways & Interactions for ADAMTSL2 Gene

genes like me logo Genes that share pathways with ADAMTSL2: view

Interacting Proteins for ADAMTSL2 Gene

;

Gene Ontology (GO) - Biological Process for ADAMTSL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0030198 extracellular matrix organization IEA --
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway IMP 18677313
GO:0060481 lobar bronchus epithelium development IEA --
genes like me logo Genes that share ontologies with ADAMTSL2: view

No data available for SIGNOR curated interactions for ADAMTSL2 Gene

Drugs & Compounds for ADAMTSL2 Gene

No Compound Related Data Available

Transcripts for ADAMTSL2 Gene

mRNA/cDNA for ADAMTSL2 Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTSL2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:

Relevant External Links for ADAMTSL2 Gene

GeneLoc Exon Structure for
ADAMTSL2

Expression for ADAMTSL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ADAMTSL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADAMTSL2 Gene

This gene is overexpressed in Heart - Atrial Appendage (x10.0), Liver (x4.6), and Kidney - Cortex (x4.1).

Protein differential expression in normal tissues from HIPED for ADAMTSL2 Gene

This gene is overexpressed in Serum (47.5) and Plasma (18.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ADAMTSL2 Gene



Protein tissue co-expression partners for ADAMTSL2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ADAMTSL2

SOURCE GeneReport for Unigene cluster for ADAMTSL2 Gene:

Hs.522543

Evidence on tissue expression from TISSUES for ADAMTSL2 Gene

  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ADAMTSL2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • vocal cord
Thorax:
  • aorta
  • bronchus
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • liver
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ADAMTSL2: view

No data available for mRNA Expression by UniProt/SwissProt for ADAMTSL2 Gene

Orthologs for ADAMTSL2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ADAMTSL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADAMTSL2 31 30
  • 98.87 (n)
OneToOne
cow
(Bos Taurus)
Mammalia -- 31
  • 89 (a)
OneToMany
ADAMTSL2 30
  • 88.36 (n)
dog
(Canis familiaris)
Mammalia ADAMTSL2 31 30
  • 88.85 (n)
OneToMany
rat
(Rattus norvegicus)
Mammalia Adamtsl2 30
  • 85.23 (n)
mouse
(Mus musculus)
Mammalia Adamtsl2 17 31 30
  • 84.88 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 78 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 72 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 31
  • 75 (a)
OneToMany
ADAMTSL2 30
  • 74.3 (n)
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 74 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia adamtsl2 30
  • 69.56 (n)
zebrafish
(Danio rerio)
Actinopterygii adamtsl2 31 30
  • 68.61 (n)
OneToMany
Species where no ortholog for ADAMTSL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ADAMTSL2 Gene

ENSEMBL:
Gene Tree for ADAMTSL2 (if available)
TreeFam:
Gene Tree for ADAMTSL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADAMTSL2: view image

Paralogs for ADAMTSL2 Gene

(1) SIMAP similar genes for ADAMTSL2 Gene using alignment to 2 proteins:

  • ATL2_HUMAN
  • B1B0D4_HUMAN

Pseudogenes.org Pseudogenes for ADAMTSL2 Gene

genes like me logo Genes that share paralogs with ADAMTSL2: view

Variants for ADAMTSL2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ADAMTSL2 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
680461 Benign: not provided 133,536,484(+) A/C INTRON_VARIANT
680462 Benign: not provided 133,538,632(+) T/C INTRON_VARIANT
680463 Benign: not provided 133,539,572(+) T/C INTRON_VARIANT
680464 Benign: not provided 133,539,602(+) A/G INTRON_VARIANT
680465 Benign: not provided 133,544,245(+) T/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ADAMTSL2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ADAMTSL2 Gene

Variant ID Type Subtype PubMed ID
dgv4156n106 CNV deletion 24896259
dgv4157n106 CNV deletion 24896259
esv1693178 CNV deletion 17803354
esv2226113 CNV deletion 18987734
esv22841 CNV gain 19812545
esv2656927 CNV deletion 23128226
esv2739138 CNV deletion 23290073
esv2739169 CNV deletion 23290073
esv2759719 CNV gain+loss 17122850
esv3545573 CNV deletion 23714750
esv4384 CNV loss 18987735
esv7691 CNV loss 19470904
nsv1075278 CNV deletion 25765185
nsv1076214 CNV deletion 25765185
nsv1125319 OTHER inversion 24896259
nsv1130184 CNV deletion 24896259
nsv1152742 CNV deletion 26484159
nsv428225 CNV loss 18775914
nsv615637 CNV loss 21841781
nsv951799 CNV deletion 24416366
nsv957724 CNV deletion 24416366

Variation tolerance for ADAMTSL2 Gene

Gene Damage Index Score: 1.80; 33.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADAMTSL2 Gene

Human Gene Mutation Database (HGMD)
ADAMTSL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADAMTSL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAMTSL2 Gene

Disorders for ADAMTSL2 Gene

MalaCards: The human disease database

(11) MalaCards diseases for ADAMTSL2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
geleophysic dysplasia 1
  • gphysd1
geleophysic dysplasia
  • geleophysic dwarfism
tracheal stenosis
  • stenosis of trachea
peters-plus syndrome
  • ptrpls
isolated ectopia lentis
  • familial ectopia lentis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ATL2_HUMAN
  • Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]: An autosomal recessive disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues. {ECO:0000269 PubMed:18677313, ECO:0000269 PubMed:21415077}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ADAMTSL2

genes like me logo Genes that share disorders with ADAMTSL2: view

No data available for Genatlas for ADAMTSL2 Gene

Publications for ADAMTSL2 Gene

  1. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 54
  2. Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. (PMID: 21415077) Allali S … Cormier-Daire V (Journal of medical genetics 2011) 3 4 54
  3. ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. (PMID: 18677313) Le Goff C … Cormier-Daire V (Nature genetics 2008) 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. ADAMTSL-3/punctin-2, a novel glycoprotein in extracellular matrix related to the ADAMTS family of metalloproteases. (PMID: 14667842) Hall NG … Apte SS (Matrix biology : journal of the International Society for Matrix Biology 2003) 2 3 54

Products for ADAMTSL2 Gene

  • Signalway ELISA kits for ADAMTSL2
  • Signalway Proteins for ADAMTSL2

Sources for ADAMTSL2 Gene