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ADAMTSL2 ADAMTS like 2 [ Homo sapiens (human) ]

Gene ID: 9719, updated on 1-Jun-2020

Summary

Official Symbol
ADAMTSL2provided by HGNC
Official Full Name
ADAMTS like 2provided by HGNC
Primary source
HGNC:HGNC:14631
See related
Ensembl:ENSG00000197859 MIM:612277
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GPHYSD1; ADAMTSL-2
Summary
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]
Expression
Broad expression in kidney (RPKM 10.4), adrenal (RPKM 9.6) and 18 other tissues See more
Orthologs

Genomic context

See ADAMTSL2 in Genome Data Viewer
Location:
9q34.2
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (133532164..133575519)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136397286..136440641)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723855 Neighboring gene myomaker, myoblast fusion factor Neighboring gene family with sequence similarity 163 member B Neighboring gene dopamine beta-hydroxylase Neighboring gene DBH antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ45164, KIAA0605

Gene Ontology Provided by GOA

Function Evidence Code Pubs
microfibril binding IEA
Inferred from Electronic Annotation
more info
 
peptidase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
 
lobar bronchus epithelium development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transforming growth factor beta receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular matrix IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009931.1 RefSeqGene

    Range
    5001..48356
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145320.2NP_001138792.1  ADAMTS-like protein 2 precursor

    See identical proteins and their annotated locations for NP_001138792.1

    Status: REVIEWED

    Source sequence(s)
    BX324209, BX629352, BX649571
    Consensus CDS
    CCDS6976.1
    UniProtKB/Swiss-Prot
    Q86TH1
    Related
    ENSP00000346478.4, ENST00000354484.8
    Conserved Domains (3) summary
    smart00209
    Location:50106
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:216330
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:916947
    PLAC; PLAC (protease and lacunin) domain
  2. NM_014694.4NP_055509.2  ADAMTS-like protein 2 precursor

    See identical proteins and their annotated locations for NP_055509.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC050544, BX324209, BX629352
    Consensus CDS
    CCDS6976.1
    UniProtKB/Swiss-Prot
    Q86TH1
    Related
    ENSP00000498961.1, ENST00000651351.1
    Conserved Domains (3) summary
    smart00209
    Location:50106
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:216330
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:916947
    PLAC; PLAC (protease and lacunin) domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    133532164..133575519
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519242.3XP_011517544.1  ADAMTS-like protein 2 isoform X3

    Conserved Domains (3) summary
    smart00209
    Location:881930
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:238352
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:938969
    PLAC; PLAC (protease and lacunin) domain
  2. XM_005272238.3XP_005272295.1  ADAMTS-like protein 2 isoform X4

    Conserved Domains (3) summary
    smart00209
    Location:869918
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:226340
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:926957
    PLAC; PLAC (protease and lacunin) domain
  3. XM_011519241.2XP_011517543.2  ADAMTS-like protein 2 isoform X2

  4. XM_005272239.2XP_005272296.1  ADAMTS-like protein 2 isoform X5

    See identical proteins and their annotated locations for XP_005272296.1

    UniProtKB/Swiss-Prot
    Q86TH1
    Conserved Domains (3) summary
    smart00209
    Location:50106
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:216330
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:916947
    PLAC; PLAC (protease and lacunin) domain
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