About   Help   FAQ
Diablo Gene Detail
Summary
  • Symbol
    Diablo
  • Name
    diablo, IAP-binding mitochondrial protein
  • Synonyms
    0610041G12Rik, 1700006L01Rik, Smac
  • Feature Type
    protein coding gene
  • IDs
    MGI:1913843
    NCBI Gene: 66593
  • Gene Overview
    MyGene.info: DIABLO
Location & Maps
more
  • Sequence Map
    Chr5:123509765-123525488 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      15724 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 63.02 cM, cytoband F
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    DIABLO, diablo IAP-binding mitochondrial protein
  • Vertebrate Orthologs
    7
  • Human Ortholog
    DIABLO, diablo IAP-binding mitochondrial protein
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DFNA64, SMAC
  • Links
    NCBI Gene ID: 56616
    neXtProt AC: NX_Q9NR28

  • Chr Location
    12q24.31; chr12:122207662-122227534 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human DIABLO associations

Human Disease Mouse Models
       Deafness, Autosomal Dominant 64; DFNA64   OMIM: 614152
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
    1 phenotype from 1 allele in 1 genetic background
    4 phenotypes from multigenic genotypes
    19 phenotype references
  • All Mutations and Alleles
    8
  • Chemically induced (other)
    1
  • Gene trapped
    2
  • Radiation induced
    1
  • Targeted
    4
  • Genomic Mutations
    2 involving Diablo
  • Incidental Mutations
Homozygotes are viable and fertile with no gross morphological or histological abnormalities. Normal induction of apoptosis in UV-irradiated or Fas-antibody treated cells was noted, and these mice also exhibit normal T and B cell proliferative responses.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025948 VEGA Gene Model | MGI Sequence Detail 15724 C57BL/6J ±  kb
transcript OTTMUST00000063989 VEGA | MGI Sequence Detail 3386 Not Applicable  
polypeptide OTTMUSP00000031734 VEGA | MGI Sequence Detail 237 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    98 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 102
    cDNA 100
    Primer pair 2

    Microarray probesets 4
Other
Accession IDs
less
MGI:1923950, MGI:2141076
References
more
  • Summaries
    All 60
    Developmental Gene Expression 7
    Diseases 1
    Gene Ontology 15
    Phenotypes 19
  • Earliest
    J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
  • Latest
    J:214844 Andree M, et al., BID-dependent release of mitochondrial SMAC dampens XIAP-mediated immunity against Shigella. EMBO J. 2014 Jul 23;

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/22/2016
MGI 6.06
The Jackson Laboratory