Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8567
Gene name	MAP kinase activating death domain
Gene symbol	MADD
Synonyms (NCBI Gene)	DEEAHDENNIG20NEDDISHRAB3GEPRabGEF
Chromosome	11
Chromosome location	11p11.2
Summary	Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins. The protein encoded by this ge

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs147179561	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, stop gained, coding sequence variant
rs1555081426	A>C	Likely-pathogenic	Splice acceptor variant

164

Show/Hide all (164)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029280	hsa-miR-26b-5p	Microarray	19088304
MIRT053688	hsa-miR-181a-5p	Microarray	22942087
MIRT440295	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT440295	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT1125108	hsa-miR-1224-5p	CLIP-seq
MIRT1125109	hsa-miR-181a	CLIP-seq
MIRT1125110	hsa-miR-181b	CLIP-seq
MIRT1125111	hsa-miR-181c	CLIP-seq
MIRT1125112	hsa-miR-181d	CLIP-seq
MIRT1125113	hsa-miR-219-1-3p	CLIP-seq
MIRT1125114	hsa-miR-23a	CLIP-seq
MIRT1125115	hsa-miR-23b	CLIP-seq
MIRT1125116	hsa-miR-23c	CLIP-seq
MIRT1125117	hsa-miR-377	CLIP-seq
MIRT1125118	hsa-miR-3915	CLIP-seq
MIRT1125119	hsa-miR-4262	CLIP-seq
MIRT1125120	hsa-miR-4689	CLIP-seq
MIRT1125121	hsa-miR-4729	CLIP-seq
MIRT1125122	hsa-miR-4751	CLIP-seq
MIRT1125123	hsa-miR-1207-5p	CLIP-seq
MIRT1125124	hsa-miR-1254	CLIP-seq
MIRT1125125	hsa-miR-185	CLIP-seq
MIRT1125126	hsa-miR-1972	CLIP-seq
MIRT1125127	hsa-miR-3116	CLIP-seq
MIRT1125128	hsa-miR-3622b-5p	CLIP-seq
MIRT1125129	hsa-miR-3910	CLIP-seq
MIRT1125130	hsa-miR-4254	CLIP-seq
MIRT1125131	hsa-miR-4306	CLIP-seq
MIRT1125132	hsa-miR-4644	CLIP-seq
MIRT1125133	hsa-miR-4717-5p	CLIP-seq
MIRT1125134	hsa-miR-4736	CLIP-seq
MIRT1125135	hsa-miR-4763-3p	CLIP-seq
MIRT1125136	hsa-miR-550a	CLIP-seq
MIRT1125137	hsa-miR-596	CLIP-seq
MIRT1125138	hsa-miR-661	CLIP-seq
MIRT1125123	hsa-miR-1207-5p	CLIP-seq
MIRT1125124	hsa-miR-1254	CLIP-seq
MIRT1125139	hsa-miR-1470	CLIP-seq
MIRT1125125	hsa-miR-185	CLIP-seq
MIRT1125140	hsa-miR-1912	CLIP-seq
MIRT1125126	hsa-miR-1972	CLIP-seq
MIRT1125141	hsa-miR-299-3p	CLIP-seq
MIRT1125127	hsa-miR-3116	CLIP-seq
MIRT1125142	hsa-miR-3130-5p	CLIP-seq
MIRT1125143	hsa-miR-3151	CLIP-seq
MIRT1125128	hsa-miR-3622b-5p	CLIP-seq
MIRT1125129	hsa-miR-3910	CLIP-seq
MIRT1125130	hsa-miR-4254	CLIP-seq
MIRT1125144	hsa-miR-4283	CLIP-seq
MIRT1125145	hsa-miR-4287	CLIP-seq
MIRT1125131	hsa-miR-4306	CLIP-seq
MIRT1125146	hsa-miR-4447	CLIP-seq
MIRT1125147	hsa-miR-4469	CLIP-seq
MIRT1125148	hsa-miR-4472	CLIP-seq
MIRT1125149	hsa-miR-4482	CLIP-seq
MIRT1125150	hsa-miR-4489	CLIP-seq
MIRT1125151	hsa-miR-4641	CLIP-seq
MIRT1125132	hsa-miR-4644	CLIP-seq
MIRT1125152	hsa-miR-4656	CLIP-seq
MIRT1125153	hsa-miR-4667-3p	CLIP-seq
MIRT1125154	hsa-miR-4685-3p	CLIP-seq
MIRT1125155	hsa-miR-4699-3p	CLIP-seq
MIRT1125133	hsa-miR-4717-5p	CLIP-seq
MIRT1125134	hsa-miR-4736	CLIP-seq
MIRT1125135	hsa-miR-4763-3p	CLIP-seq
MIRT1125156	hsa-miR-491-5p	CLIP-seq
MIRT1125136	hsa-miR-550a	CLIP-seq
MIRT1125157	hsa-miR-578	CLIP-seq
MIRT1125158	hsa-miR-582-5p	CLIP-seq
MIRT1125159	hsa-miR-593	CLIP-seq
MIRT1125137	hsa-miR-596	CLIP-seq
MIRT1125160	hsa-miR-626	CLIP-seq
MIRT1125138	hsa-miR-661	CLIP-seq
MIRT1125123	hsa-miR-1207-5p	CLIP-seq
MIRT1125139	hsa-miR-1470	CLIP-seq
MIRT2035296	hsa-miR-3688-5p	CLIP-seq
MIRT1125153	hsa-miR-4667-3p	CLIP-seq
MIRT1125134	hsa-miR-4736	CLIP-seq
MIRT1125135	hsa-miR-4763-3p	CLIP-seq
MIRT2265814	hsa-miR-1197	CLIP-seq
MIRT1125117	hsa-miR-377	CLIP-seq
MIRT1125124	hsa-miR-1254	CLIP-seq
MIRT2565139	hsa-miR-125a-5p	CLIP-seq
MIRT2565140	hsa-miR-125b	CLIP-seq
MIRT2565141	hsa-miR-1324	CLIP-seq
MIRT1125125	hsa-miR-185	CLIP-seq
MIRT2565142	hsa-miR-1913	CLIP-seq
MIRT2565143	hsa-miR-19a	CLIP-seq
MIRT2565144	hsa-miR-19b	CLIP-seq
MIRT2565145	hsa-miR-2278	CLIP-seq
MIRT2565146	hsa-miR-3074-5p	CLIP-seq
MIRT1125127	hsa-miR-3116	CLIP-seq
MIRT2565147	hsa-miR-3124-3p	CLIP-seq
MIRT2565148	hsa-miR-3158-5p	CLIP-seq
MIRT2565149	hsa-miR-3166	CLIP-seq
MIRT2565150	hsa-miR-3199	CLIP-seq
MIRT2565151	hsa-miR-324-3p	CLIP-seq
MIRT1125130	hsa-miR-4254	CLIP-seq
MIRT2565152	hsa-miR-4269	CLIP-seq
MIRT2565153	hsa-miR-4292	CLIP-seq
MIRT1125131	hsa-miR-4306	CLIP-seq
MIRT2565154	hsa-miR-4308	CLIP-seq
MIRT2565155	hsa-miR-4313	CLIP-seq
MIRT2565156	hsa-miR-4319	CLIP-seq
MIRT2565157	hsa-miR-4453	CLIP-seq
MIRT2565158	hsa-miR-4514	CLIP-seq
MIRT2565159	hsa-miR-4538	CLIP-seq
MIRT1125132	hsa-miR-4644	CLIP-seq
MIRT2565160	hsa-miR-4645-5p	CLIP-seq
MIRT2565161	hsa-miR-4673	CLIP-seq
MIRT2565162	hsa-miR-4692	CLIP-seq
MIRT2565163	hsa-miR-4722-3p	CLIP-seq
MIRT2565164	hsa-miR-4732-3p	CLIP-seq
MIRT2565165	hsa-miR-4738-3p	CLIP-seq
MIRT2565166	hsa-miR-4742-5p	CLIP-seq
MIRT2565167	hsa-miR-4746-5p	CLIP-seq
MIRT2565168	hsa-miR-4771	CLIP-seq
MIRT1125136	hsa-miR-550a	CLIP-seq
MIRT2565169	hsa-miR-576-3p	CLIP-seq
MIRT1125137	hsa-miR-596	CLIP-seq
MIRT1125138	hsa-miR-661	CLIP-seq
MIRT2565170	hsa-miR-670	CLIP-seq
MIRT1125124	hsa-miR-1254	CLIP-seq
MIRT2565139	hsa-miR-125a-5p	CLIP-seq
MIRT2565140	hsa-miR-125b	CLIP-seq
MIRT2565141	hsa-miR-1324	CLIP-seq
MIRT1125125	hsa-miR-185	CLIP-seq
MIRT2565142	hsa-miR-1913	CLIP-seq
MIRT2565143	hsa-miR-19a	CLIP-seq
MIRT2565144	hsa-miR-19b	CLIP-seq
MIRT2565145	hsa-miR-2278	CLIP-seq
MIRT2565146	hsa-miR-3074-5p	CLIP-seq
MIRT1125127	hsa-miR-3116	CLIP-seq
MIRT2565147	hsa-miR-3124-3p	CLIP-seq
MIRT2565148	hsa-miR-3158-5p	CLIP-seq
MIRT2565149	hsa-miR-3166	CLIP-seq
MIRT2565150	hsa-miR-3199	CLIP-seq
MIRT2565151	hsa-miR-324-3p	CLIP-seq
MIRT2684399	hsa-miR-3919	CLIP-seq
MIRT1125130	hsa-miR-4254	CLIP-seq
MIRT2565152	hsa-miR-4269	CLIP-seq
MIRT2565153	hsa-miR-4292	CLIP-seq
MIRT1125131	hsa-miR-4306	CLIP-seq
MIRT2565154	hsa-miR-4308	CLIP-seq
MIRT2565155	hsa-miR-4313	CLIP-seq
MIRT2565156	hsa-miR-4319	CLIP-seq
MIRT2565157	hsa-miR-4453	CLIP-seq
MIRT2565158	hsa-miR-4514	CLIP-seq
MIRT2565159	hsa-miR-4538	CLIP-seq
MIRT1125132	hsa-miR-4644	CLIP-seq
MIRT2565160	hsa-miR-4645-5p	CLIP-seq
MIRT2565161	hsa-miR-4673	CLIP-seq
MIRT2565162	hsa-miR-4692	CLIP-seq
MIRT2565163	hsa-miR-4722-3p	CLIP-seq
MIRT2565164	hsa-miR-4732-3p	CLIP-seq
MIRT2565165	hsa-miR-4738-3p	CLIP-seq
MIRT2565166	hsa-miR-4742-5p	CLIP-seq
MIRT2565167	hsa-miR-4746-5p	CLIP-seq
MIRT2565168	hsa-miR-4771	CLIP-seq
MIRT1125136	hsa-miR-550a	CLIP-seq
MIRT2565169	hsa-miR-576-3p	CLIP-seq
MIRT1125137	hsa-miR-596	CLIP-seq
MIRT1125138	hsa-miR-661	CLIP-seq
MIRT2565170	hsa-miR-670	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	20937701
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IMP	9115275
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005123	Function	Death receptor binding	TAS	9115275
GO:0005515	Function	Protein binding	IPI	9115275, 16273344, 21044950
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	8988362
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8988362
GO:0006915	Process	Apoptotic process	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	9115275
GO:0016020	Component	Membrane	IDA	8988362
GO:0016020	Component	Membrane	IEA
GO:0030295	Function	Protein kinase activator activity	TAS	9115275
GO:0030424	Component	Axon	IEA
GO:0032483	Process	Regulation of Rab protein signal transduction	IBA
GO:0032483	Process	Regulation of Rab protein signal transduction	IDA	20937701
GO:0042981	Process	Regulation of apoptotic process	IBA
GO:0042981	Process	Regulation of apoptotic process	IMP	11577081
GO:0042995	Component	Cell projection	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IMP	9115275
GO:0051726	Process	Regulation of cell cycle	IMP	14735464
GO:0097194	Process	Execution phase of apoptosis	IMP	14735464
GO:1902041	Process	Regulation of extrinsic apoptotic signaling pathway via death domain receptors	IMP	9115275
GO:2001236	Process	Regulation of extrinsic apoptotic signaling pathway	IDA	11577081

MIM	HGNC	e!Ensembl
603584	6766	ENSG00000110514

Q8WXG6

Protein name

MAP kinase-activating death domain protein (Differentially expressed in normal and neoplastic cells) (Insulinoma glucagonoma clone 20) (Rab3 GDP/GTP exchange factor) (RabGEF) (Rab3 GDP/GTP exchange protein) (Rab3GEP)

Protein function

Guanyl-nucleotide exchange factor that regulates small GTPases of the Rab family (PubMed:18559336, PubMed:20937701). Converts GDP-bound inactive form of RAB27A and RAB27B to the GTP-bound active forms (PubMed:18559336, PubMed:20937701). Converts

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03456	uDENN	32 → 97	uDENN domain	Domain
PF02141	DENN	172 → 402	DENN (AEX-3) domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in testis, ovary, brain and heart (PubMed:8988362). Expressed in spleen, thymus, prostate, testis, ovary, small instestine and colon (PubMed:9115275). Expressed in liver (PubMed:9796103). {ECO:0000269|PubMed:8988362, ECO:0000

Sequence

MVQKKKFCPRLLDYLVIVGARHPSSDSVAQTPELLRRYPLEDHTEFPLPPDVVFFCQPEG
CLSVRQRRMSLRDDTSFVFTLTDKDTGVTRYGICVNFYRSFQKRISKEKGEGGAGSRGKE
GTHATCASEEGGTESSESGSSLQPLSADSTPDVNQSPRGKRRAKAGSRSRNSTLTSLCVL
SHYPFFSTFRECLYTLKRLVDCCSERLLGKKLGIPRGVQRDTMWRIFTGSLLVEEKSSAL
LHDLREIEAWIYRLLRSPVPVSGQKRVDIEVLPQELQPALTFALPDPSRFTLVDFPLHLP
LELLGVDACLQVLTCILLEHKVVLQSRDYNALSMSVMAFVAMIYPLEYMFPVIPLLPTCM
ASAEQLLLAPTPYIIGVPASFFLYKLDFKMPDDVWLVDLDSNRVIAPTNAEVLPILPEPE
SLELKKHLKQALASMSLNTQPILNLEKFHEGQEIPLLLGRPSNDLQSTPSTEFNPLIYGN
DVDSVDVATRVAMVRFFNSANVLQGFQMHTRTLRLFPRPVVAFQAGSFLASRPRQTPFAE
KLARTQAVEYFGEWILNPTNYAFQRIHNNMFDPALIGDKPKWYAHQLQPIHYRVYDSNSQ
LAEALSVPPERDSDSEPTDDSGSDSMDYDDSSSSYSSLGDFVSEMMKCDINGDTPNVDPL
THAALGDASEVEIDELQNQKEAEEPGPDSENSQENPPLRSSSSTTASSSPSTVIHGANSE
PADSTEMDDKAAVGVSKPLPSVPPSIGKSNVDRRQAEIGEGSVRRRIYDNPYFEPQYGFP
PEEDEDEQGESYTPRFSQHVSGNRAQKLLRPNSLRLASDSDAESDSRASSPNSTVSNTST
EGFGGIMSFASSLYRNHSTSFSLSNLTLPTKGAREKATPFPSLKVFGLNTLMEIVTEAGP
GSGEGNRRALVDQKSSVIKHSPTVKREPPSPQGRSSNSSENQQFLKEVVHSVLDGQGVGW
LNMKKVRRLLESEQLRVFVLSKLNRMVQSEDDARQDIIPDVEISRKVYKGMLDLLKCTVL
SLEQSYAHAGLGGMASIFGLLEIAQTHYYSKEPDKRKRSPTESVNTPVGKDPGLAGRGDP
KAMAQLRVPQLGPRAPSATGKGPKELDTRSLKEENFIASIELWNKHQEVKKQKALEKQRP
EVIKPVFDLGETEEKKSQISADSGVSLTSSSQRTDQDSVIGVSPAVMIRSSSQDSEVSTV
VSNSSGETLGADSDLSSNAGDGPGGEGSVHLASSRGTLSDSEIETNSATSTIFGKAHSLK
PSIKEKLAGSPIRTSEDVSQRVYLYEGLLGRDKGSMWDQLEDAAMETFSISKERSTLWDQ
MQFWEDAFLDAVMLEREGMGMDQGPQEMIDRYLSLGEHDRKRLEDDEDRLLATLLHNLIS
YMLLMKVNKNDIRKKVRRLMGKSHIGLVYSQQINEVLDQLANLNGRDLSIWSSGSRHMKK
QTFVVHAGTDTNGDIFFMEVCDDCVVLRSNIGTVYERWWYEKLINMTYCPKTKVLCLWRR
NGSETQLNKFYTKKCRELYYCVKDSMERAAARQQSIKPGPELGGEFPVQDLKTGEGGLLQ
VTLEGINLKFMHNQVFIELNHIKKCNTVRGVFVLEEFVPEIKEVVSHKYKTPMAHEICYS
VLCLFSYVAAVHSSEEDLRTPPRPVSS

Sequence length

1647

Interactions

View interactions

	Reactome
			Regulation of TNFR1 signaling RAB GEFs exchange GTP for GDP on RABs

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Deeah syndrome	Likely pathogenic; Pathogenic	rs148016422, rs1327470716, rs756420276, rs766120355, rs2541472333, rs2543164636, rs2063412625, rs1326027590, rs2049640804, rs2049504624	RCV001564052 RCV001813903 RCV001814845 RCV001814943 RCV003990529 RCV003990548 RCV001250121 RCV001256020 RCV001256022 RCV001256023
MADD-related disorder	Likely pathogenic; Pathogenic	rs768316614, rs147179561, rs2063412625, rs2086196870	RCV003402148 RCV003392306 RCV005866895 RCV001255979
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type	Pathogenic	rs2140853464	RCV002273085
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia	Likely pathogenic; Pathogenic	rs756420276, rs971864929, rs2544800803, rs147179561, rs2070645772, rs370382902, rs2071226513	RCV001814845 RCV005254643 RCV003224993 RCV001256017 RCV001256018 RCV001256019 RCV001256024

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs35233100	RCV005937015
Adrenocortical carcinoma, hereditary	Benign	rs35233100	RCV005937017
Cholangiocarcinoma	Benign	rs35233100	RCV005937023
Colon adenocarcinoma	Benign	rs35233100	RCV005937014
Colorectal cancer	Benign	rs35233100	RCV005937020
Familial cancer of breast	Uncertain significance	rs138776960	RCV005930218
Gastric cancer	Likely benign	rs143711544	RCV005936759
Hepatocellular carcinoma	Benign	rs35233100	RCV005937016
Lymphoma	Benign	rs35233100	RCV005937021
Malignant lymphoma, large B-cell, diffuse	Benign	rs35233100	RCV005937019
Melanoma	Uncertain significance; Likely benign	rs372333972, rs143711544	RCV005932549 RCV005936760
Thymoma	Benign	rs35233100	RCV005937022
Uterine corpus endometrial carcinoma	Benign	rs35233100	RCV005937024
Uveal melanoma	Benign	rs35233100	RCV005937018

Show/Hide Text Mining Associations (40)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	26394601
Anti N Methyl D Aspartate Receptor Encephalitis	Associate	34584012
Arthrogryposis	Associate	33723354
Breast Neoplasms	Associate	23457619, 25854358, 33597508
Carcinoma Ductal	Stimulate	23457619
Carcinoma Non Small Cell Lung	Associate	26783084
Cerebral Infarction	Associate	27070640
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	32761064
Coronary Artery Disease	Associate	26209006
Coronary Disease	Associate	27070640
Developmental Disabilities	Associate	32761064
Diabetes Mellitus	Associate	22662265
Diabetes Mellitus Type 2	Associate	21103350, 22662265
Diarrhea	Associate	36206192
Failure to Thrive	Associate	33723354
Filaminopathy autosomal dominant	Associate	28348077
Frontometaphyseal dysplasia	Associate	28348077
Griscelli syndrome type 2	Associate	36206192
Heart Failure Diastolic	Associate	22529996
Hematologic Diseases	Associate	32761064
Hyperinsulinism	Associate	20185807
Leukemia Lymphocytic Chronic B Cell	Associate	26517243
Leukemia Myeloid Acute	Associate	37735672
Lymphohistiocytosis Hemophagocytic	Associate	36206192
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Inhibit	32761064
Multiple System Atrophy	Associate	32761064, 33723354
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	28348077
Neoplasm Metastasis	Associate	26783084
Neoplasms	Associate	17314102, 19289468, 20484047, 23457619, 26517243
Neuroblastoma	Associate	18794122
Obesity	Associate	30177354
Ovarian Neoplasms	Associate	21855847
Pancreatic Neoplasms	Stimulate	21445555
Polycystic Ovary Syndrome	Associate	22180642
Respiratory Distress Syndrome Newborn	Associate	33723354
Seizures	Associate	32761064
Speech Disorders	Associate	32761064
Stroke Lacunar	Associate	35733147
Syndrome	Associate	36206192
Thyroid Neoplasms	Associate	19190106, 22998497

MADD (MAP kinase activating death domain)