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Adam17 Gene Detail
Summary
  • Symbol
    Adam17
  • Name
    a disintegrin and metallopeptidase domain 17
  • Synonyms
    CD156b, Tace
  • Feature Type
    protein coding gene
  • IDs
    MGI:1096335
    NCBI Gene: 11491
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
  • Candidate for QTL
    2 QTL
Location &
Maps
more
  • Sequence Map
    Chr12:21373510-21423633 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 8.30 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1389 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1096335
 protein coding gene Chr12:21373510-21423633 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019625
 protein coding gene Chr12:18877556-18928866 (-)
A/J MGP_AJ_G0019592
 protein coding gene Chr12:18168073-18219931 (-)
AKR/J MGP_AKRJ_G0019563
 protein coding gene Chr12:19005584-19059581 (-)
BALB/cJ MGP_BALBcJ_G0019569
 protein coding gene Chr12:18544450-18594937 (-)
C3H/HeJ MGP_C3HHeJ_G0019373
 protein coding gene Chr12:18898739-18950068 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020017
 protein coding gene Chr12:19578093-19634066 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017642
 protein coding gene Chr12:17768616-17818824 (-)
CAST/EiJ MGP_CASTEiJ_G0018928
 protein coding gene Chr12:16168967-16222116 (-)
CBA/J MGP_CBAJ_G0019345
 protein coding gene Chr12:20315005-20374231 (-)
DBA/2J MGP_DBA2J_G0019458
 protein coding gene Chr12:18200643-18250745 (-)
FVB/NJ MGP_FVBNJ_G0019449
 protein coding gene Chr12:18100913-18150424 (-)
LP/J MGP_LPJ_G0019528
 protein coding gene Chr12:18978364-19031972 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019484
 protein coding gene Chr12:20133877-20188668 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020056
 protein coding gene Chr12:18580108-18633901 (-)
PWK/PhJ MGP_PWKPhJ_G0018694
 protein coding gene Chr12:15475304-15526987 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018483
 protein coding gene Chr12:15871179-15925700 (-)
WSB/EiJ MGP_WSBEiJ_G0018979
 protein coding gene Chr12:18765511-18817297 (-)



Homology
more
  • Human Ortholog
    ADAM17, ADAM metallopeptidase domain 17
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ADAM17, ADAM metallopeptidase domain 17
  • Synonyms
    ADAM18, CD156B, CSVP, NISBD, NISBD1, TACE
  • Links
    NCBI Gene ID: 6868
    neXtProt AC: NX_P78536
    UniProt: P78536

  • Chr Location
    2p25.1; chr2:9488486-9556732 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Adam17 mouse models; 3 with human ADAM17 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
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
    182 phenotypes from 15 alleles in 26 genetic backgrounds
    17 phenotypes from multigenic genotypes
    6 images
    163 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.
Most mice homozygous for targeted mutations that inactivate the gene die perinatally with stunted vibrissae and open eyelids. Survivors display various degrees of eye degeneration, perturbed hair coats, curly vibrissae, and irregular pigmentation patterns. Histological analysis of fetuses reveal defects in epithelial cell maturation and organization in multiple organs.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    104
  • GO References
    25
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.
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
    839
  • Tissues
    78
  • cDNA Data
    24
  • Literature Summary
    27
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11491 NCBI Gene Model | MGI Sequence Detail 50124 C57BL/6J ±  kb
    transcript NM_001277266 RefSeq | MGI Sequence Detail 4508 ZRU/MplStud  
    polypeptide Q9Z0F8 UniProt | EBI | MGI Sequence Detail 827 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 32
      Genomic 2
      cDNA 24
      Primer pair 5
      Other 1

      Microarray probesets 6
    References
    more
    • Summaries
      All 310
      Developmental Gene Expression 27
      Diseases 1
      Gene Ontology 25
      Phenotypes 163
    • Earliest
      J:38526 Moss ML, et al., Cloning of a disintegrin metalloproteinase that processes precursor tumour-necrosis factor-alpha [published erratum appears in Nature 1997 Apr 17;386(6626):738]. Nature. 1997 Feb 20;385(6618):733-6
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory