About   Help   FAQ
Madd Gene Detail
Summary
  • Symbol
    Madd
  • Name
    MAP-kinase activating death domain
  • Synonyms
    9630059K23Rik, mKIAA0358, Rab3 GEP
  • Feature Type
    protein coding gene
  • IDs
    MGI:2444672
    NCBI Gene: 228355
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:90967705-91013404 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 50.46 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1105 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2444672
 protein coding gene Chr2:90967705-91014182 (-)
129S1/SvImJ MGP_129S1SvImJ_G0026143
 protein coding gene Chr2:92443789-92490473 (-)
A/J MGP_AJ_G0026104
 protein coding gene Chr2:88748121-88794464 (-)
AKR/J MGP_AKRJ_G0026085
 protein coding gene Chr2:91201151-91248578 (-)
BALB/cJ MGP_BALBcJ_G0026113
 protein coding gene Chr2:88925631-88974129 (-)
C3H/HeJ MGP_C3HHeJ_G0025864
 protein coding gene Chr2:91478524-91526218 (-)
C57BL/6NJ MGP_C57BL6NJ_G0026564
 protein coding gene Chr2:95708213-95756952 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023945
 protein coding gene Chr2:85003773-85305607 (-)
CAST/EiJ MGP_CASTEiJ_G0025329
 protein coding gene Chr2:92002806-92054929 (-)
CBA/J MGP_CBAJ_G0025842
 protein coding gene Chr2:98954679-99004558 (-)
DBA/2J MGP_DBA2J_G0025978
 protein coding gene Chr2:88347095-88394997 (-)
FVB/NJ MGP_FVBNJ_G0025941
 protein coding gene Chr2:87451771-87500128 (-)
LP/J MGP_LPJ_G0026082
 protein coding gene Chr2:92653108-92704096 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025967
 protein coding gene Chr2:101993306-102044252 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0026618
 protein coding gene Chr2:91262811-91314835 (-)
PWK/PhJ MGP_PWKPhJ_G0025064
 protein coding gene Chr2:88076377-88124021 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024865
 protein coding gene Chr2:90838455-90887240 (-)
WSB/EiJ MGP_WSBEiJ_G0025396
 protein coding gene Chr2:91860699-91909760 (-)



Homology
more
  • Human Ortholog
    MADD, MAP kinase activating death domain
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MADD, MAP kinase activating death domain
  • Synonyms
    DEEAH, DENN, IG20, NEDDISH, RAB3GEP, RabGEF
  • Links
    NCBI Gene ID: 8567
    neXtProt AC: NX_Q8WXG6
    UniProt: Q8WXG6

  • Chr Location
    11p11.2; chr11:47269161-47330031 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Madd mouse models

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
    20 phenotypes from 2 alleles in 3 genetic backgrounds
    9 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.
Mice homozygous for a knock-out allele die shortly after birth due to respiratory failure, are hyporesponsive to tactile stimuli, and exhibit defects in neurotransmitter release with impaired synaptic vesicle trafficking and depletion of synaptic vesicles at the neuromuscular junction.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    29
  • GO References
    9
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
    823
  • Tissues
    23
  • cDNA Data
    103
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 228355 NCBI Gene Model | MGI Sequence Detail 45700 C57BL/6J ±  kb
    transcript NM_001177719 RefSeq | MGI Sequence Detail 6151 C57BL/6  
    polypeptide Q80U28 UniProt | EBI | MGI Sequence Detail 1577 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 108
      cDNA 104
      Primer pair 4

      Microarray probesets 5
    References
    more
    • Summaries
      All 43
      Developmental Gene Expression 7
      Diseases 1
      Gene Ontology 9
      Phenotypes 9
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:343445 Lewis MA, et al., Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss. PLoS Genet. 2023 Nov;19(11):e1011058
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory