MADD (MAP kinase activating death domain)

2003-06-01  

Identity

HGNC
MADD
LOCATION
11p11.2
LOCUSID
8567
ALIAS
DEEAH,DENN,IG20,NEDDISH,RAB3GEP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8567
MIM: 603584
HGNC: 6766
Ensembl: ENSG00000110514

Variants:

dbSNP: 8567
ClinVar: 8567
TCGA: ENSG00000110514
COSMIC: MADD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110514ENST00000311027Q8WXG6
ENSG00000110514ENST00000342922A0A0A0MRB5
ENSG00000110514ENST00000349238Q8WXG6
ENSG00000110514ENST00000395336Q8WXG6
ENSG00000110514ENST00000395344Q8WXG6
ENSG00000110514ENST00000402192Q8WXG6
ENSG00000110514ENST00000402799Q8WXG6
ENSG00000110514ENST00000405573F8W8U2
ENSG00000110514ENST00000406482Q8WXG6
ENSG00000110514ENST00000407859Q8WXG6
ENSG00000110514ENST00000422579C9JLZ9
ENSG00000110514ENST00000428807C9J6B0
ENSG00000110514ENST00000444117C9K0L0
ENSG00000110514ENST00000453571C9JM97
ENSG00000110514ENST00000634938A0A0U1RR25

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Death Receptor SignallingREACTOMER-HSA-73887
TNF signalingREACTOMER-HSA-75893
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Regulation of TNFR1 signalingREACTOMER-HSA-5357905
RAB GEFs exchange GTP for GDP on RABsREACTOMER-HSA-8876198

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
200818582010New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.925
190609112009Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.392
201858072010Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans.101
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
188499812008KIF1Bbeta- and KIF1A-mediated axonal transport of presynaptic regulator Rab3 occurs in a GTP-dependent manner through DENN/MADD.68
204194492010Variants at DGKB/TMEM195, ADRA2A, GLIS3 and C2CD4B loci are associated with reduced glucose-stimulated beta cell function in middle-aged Danish people.43
211033502010Variants from GIPR, TCF7L2, DGKB, MADD, CRY2, GLIS3, PROX1, SLC30A8 and IGF1 are associated with glucose metabolism in the Chinese.35
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
205717542010Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.26
192894682009MADD, a splice variant of IG20, is indispensable for MAPK activation and protection against apoptosis upon tumor necrosis factor-alpha treatment.19

Citation

Dessen P

MADD (MAP kinase activating death domain)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/41227/madd