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
379329382024Calloso-adreno-scrotal agenesis associated with biallelic MAPK-activating death domain protein (MADD) variant: Further phenotypic delineation of MADD deficiency.1
384592242024New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder.0
385062452024MADD regulates natural killer cell degranulation through Rab27a activation.0
379329382024Calloso-adreno-scrotal agenesis associated with biallelic MAPK-activating death domain protein (MADD) variant: Further phenotypic delineation of MADD deficiency.1
384592242024New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder.0
385062452024MADD regulates natural killer cell degranulation through Rab27a activation.0
337233542021Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder.5
345510922021GDP/GTP exchange factor MADD drives activation and recruitment of secretory Rab GTPases to Weibel-Palade bodies.13
337233542021Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder.5
345510922021GDP/GTP exchange factor MADD drives activation and recruitment of secretory Rab GTPases to Weibel-Palade bodies.13
327610642020Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.15
327610642020Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.15
307607002019Loss of MADD expression inhibits cellular growth and metastasis in anaplastic thyroid cancer.13
309476592019MADD Expression in Lung Adenocarcinoma and its Impact on Proliferation and Apoptosis of Lung Adenocarcinoma Cells.1
307607002019Loss of MADD expression inhibits cellular growth and metastasis in anaplastic thyroid cancer.13

Citation

Dessen P

MADD (MAP kinase activating death domain)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/41227/favicon/haematological-explorer/