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Adamtsl2 Gene Detail
Summary
  • Symbol
    Adamtsl2
  • Name
    ADAMTS-like 2
  • Synonyms
    A930008K15Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1925044
    NCBI Gene: 77794
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:26969391-26998993 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, Syntenic
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    372 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1925044
 protein coding gene Chr2:26969348-26998993 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025509
 protein coding gene Chr2:25050393-25080193 (+)
A/J MGP_AJ_G0025486
 protein coding gene Chr2:24102796-24132269 (+)
AKR/J MGP_AKRJ_G0025456
 protein coding gene Chr2:24896715-24928234 (+)
BALB/cJ MGP_BALBcJ_G0025482
 protein coding gene Chr2:24223045-24252590 (+)
C3H/HeJ MGP_C3HHeJ_G0025243
 protein coding gene Chr2:24833712-24863955 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025926
 protein coding gene Chr2:25903513-25932998 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023337
 protein coding gene Chr2:22939628-22969478 (+)
CAST/EiJ MGP_CASTEiJ_G0024706
 protein coding gene Chr2:24710702-24743728 (+)
CBA/J MGP_CBAJ_G0025221
 protein coding gene Chr2:26800559-26831929 (+)
DBA/2J MGP_DBA2J_G0025354
 protein coding gene Chr2:23924049-23955360 (+)
FVB/NJ MGP_FVBNJ_G0025316
 protein coding gene Chr2:23681799-23712025 (+)
LP/J MGP_LPJ_G0025440
 protein coding gene Chr2:24996139-25026912 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025347
 protein coding gene Chr2:26844436-26874497 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025985
 protein coding gene Chr2:24834168-24863707 (+)
PWK/PhJ MGP_PWKPhJ_G0024454
 protein coding gene Chr2:23715390-23745072 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024254
 protein coding gene Chr2:24978754-25007968 (+)
WSB/EiJ MGP_WSBEiJ_G0024775
 protein coding gene Chr2:24948099-24977625 (+)



Homology
more
  • Human Ortholog
    ADAMTSL2, ADAMTS like 2
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ADAMTSL2, ADAMTS like 2
  • Synonyms
    ADAMTSL-2, GPHYSD1
  • Links
    NCBI Gene ID: 9719
    neXtProt AC: NX_Q86TH1
    UniProt: Q86TH1

  • Chr Location
    9q34.2; chr9:133532164-133575519 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Adamtsl2 mouse models; 1 with human ADAMTSL2 associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    39 phenotypes from 3 alleles in 4 genetic backgrounds
    12 phenotype references
Phenotype Overview

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.
Homozygous null mice die shortly after birth, are cyanotic and exhibit respiratory distress. Severe bronchial epithelial dysplasia with abnormal glycogen-rich inclusions in the bronchial epithelium is observed. Homozygotes for a spontaneous mutation exhibit a mild disproportionate dwarfism. Most males are infertile.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    13
  • 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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

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
    938
  • Tissues
    61
  • cDNA Data
    18
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000036040 Ensembl Gene Model | MGI Sequence Detail 29603 C57BL/6J ±  kb
    transcript ENSMUST00000091233 Ensembl | MGI Sequence Detail 3612 Not Applicable  
    polypeptide ENSMUSP00000088774 Ensembl | MGI Sequence Detail 957 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 21
      cDNA 18
      Primer pair 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-14617, MGI:98429
    References
    more
    • Summaries
      All 40
      Developmental Gene Expression 6
      Diseases 1
      Gene Ontology 6
      Phenotypes 12
    • Earliest
      J:5109 Lane PW, et al., Three recessive mutations producing disproportionate dwarfing in mice: achondroplasia, brachymorphic, and stubby. J Hered. 1968 Sep-Oct;59(5):300-8
    • Latest
      J:345919 Iwanaga Y, et al., A nonsense mutation in mouse Adamtsl2 causes uterine hypoplasia and an irregular estrous cycle. Mamm Genome. 2023 Dec;34(4):559-571
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory