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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MADD Gene

protein-coding GIFtS: 61
GCID: GC11P047290

MAP-kinase activating death domain

Explore 13 diseases affiliated with
MADD via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
MAP-Kinase Activating Death Domain¹ ²		Insulinoma Glucagonoma Clone 20² ³
DENN¹ ² ³ ⁵		IG20² ³
RAB3GEP¹ ²		Rab3 GDP/GTP Exchange Factor² ³
KIAA0358¹ ³		MAP Kinase-Activating Death Domain Protein²
Differentially Expressed In Normal And Neoplastic Cells² ³

External Ids:	HGNC: 6766¹	Entrez Gene: 8567²	Ensembl: ENSG00000110514⁷	OMIM: 603584⁵	UniProtKB: Q8WXG6³

Export aliases for MADD gene to outside databases

Previous GC identifers: GC11P049230 GC11P048168 GC11P047322 GC11P047255 GC11P047247 GC11P046990

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MADD:

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 gene is a death domain-containing adaptor protein that interacts with the death domain of

TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is

membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several transcript variants

encoding different isoforms have been described for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: MADD_HUMAN, Q8WXG6

Function: Plays a significant role in regulating cell proliferation, survival and death through alternative mRNA

splicing. Isoform 5 shows increased cell proliferation and isoform 2 shows decreased. Converts GDP-bound inactive form

of RAB3A, RAB3C and RAB3D to the GTP-bound active forms. Component of the TNFRSF1A signaling complex: MADD links

TNFRSF1A with MAP kinase activation. Plays an important regulatory role in physiological cell death

(TNF-alpha-induced, caspase-mediated apoptosis); isoform 1 is susceptible to inducing apoptosis, isoform 5 is

resistant and isoform 3 and isoform 4 have no effect

Gene Wiki entry for MADD

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_009237.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MADD gene promoter:
AP-2alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MADD promoter sequence

Search SABiosciences Chromatin IP Primers for MADD

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MADD

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p11.2 Ensembl cytogenetic band: 11p11.2 HGNC cytogenetic band: 11p11.2

MADD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MADD gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11P047290: view genomic region (about GC identifiers)

Start:	47,290,712 bp from pter	End:	47,351,582 bp from pter
Size:	60,871 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MADD_HUMAN, Q8WXG6 (See protein sequence)

Recommended Name: MAP kinase-activating death domain protein

Size: 1647 amino acids; 183303 Da

Subunit: Interacts with the death domain of TNFRSF1A through its own death domain

Subcellular location: Membrane. Cytoplasm

Miscellaneous: Overexpression of MADD activates the mitogen-activated protein (MAP) kinase extracellular

signal-regulated kinase (ERK). Expression of the MADD death domain stimulates both the ERK and c-JUN N-terminal kinase

MAP kinases and induces the phosphorylation of cytosolic phospholipase A2

Sequence caution: Sequence=BAA20814.2; Type=Erroneous initiation;

Secondary accessions: A8K8S7 B5MEE5 D3DQR4 O15065 O15293 Q15732 Q15741 Q8IWD7 Q8WXG3 Q8WXG4 Q8WXG5

Q8WZ63

Alternative splicing: 8 isoforms: Q8WXG6-1 Q8WXG6-2 Q8WXG6-3 Q8WXG6-4 Q8WXG6-5 Q8WXG6-6 Q8WXG6-7 Q8WXG6-8

(No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MADD: NX_Q8WXG6

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8WXG6

MADD Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (10 alternative transcripts):

NP_001129415.1 NP_001129416.1 NP_003673.3 NP_569826.2 NP_569827.2 NP_569828.2 NP_569829.2 NP_569830.2

NP_569831.1 NP_569832.2

ENSEMBL proteins:

ENSP00000388255 ENSP00000343902 ENSP00000398167 ENSP00000385585 ENSP00000384435

ENSP00000304505 ENSP00000310933 ENSP00000384204 ENSP00000378753 ENSP00000413116

ENSP00000378745 ENSP00000384287 ENSP00000402364 ENSP00000384483

Human Recombinant Protein Products for MADD:

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	Uscn Proteins for MADD

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--
GO:0005886	plasma membrane	IDA	--
GO:0016021	integral to membrane	IDA	8988362

MADD for ontologies About GeneDecksing

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Assay Products for MADD:

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	Uscn ELISAs and CLIAs for MADD

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MADD for domains About GeneDecksing

3 InterPro domains/families:

IPR005112 dDENN_dom

IPR005113 uDENN_dom

IPR001194 DENN_dom

Graphical View of Domain Structure for InterPro Entry Q8WXG6

ProtoNet protein and cluster: Q8WXG6

UniProtKB/Swiss-Prot: MADD_HUMAN, Q8WXG6

Similarity: Belongs to the MADD family

Similarity: Contains 1 dDENN domain

Similarity: Contains 1 death domain

Similarity: Contains 1 DENN domain

Similarity: Contains 1 uDENN domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: MADD_HUMAN, Q8WXG6

Function: Plays a significant role in regulating cell proliferation, survival and death through alternative mRNA

splicing. Isoform 5 shows increased cell proliferation and isoform 2 shows decreased. Converts GDP-bound inactive form

of RAB3A, RAB3C and RAB3D to the GTP-bound active forms. Component of the TNFRSF1A signaling complex: MADD links

TNFRSF1A with MAP kinase activation. Plays an important regulatory role in physiological cell death

(TNF-alpha-induced, caspase-mediated apoptosis); isoform 1 is susceptible to inducing apoptosis, isoform 5 is

resistant and isoform 3 and isoform 4 have no effect

Genatlas biochemistry entry for MADD:

Map kinase-activating death domain protein homolog and similar to C elegans AEX3,differentially expressed in normal and

neoplastic cell,linkingTNFR1 with MAP kinase activation and arachidonic acid release and provide further insight into

the mechanisms by which TNF exerts its pleiotropic effects

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005123	death receptor binding	TAS	9115275
GO:0005515	protein binding	IPI	16273344
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IMP	9115275
GO:0030295	protein kinase activator activity	TAS	9115275

MADD for ontologies About GeneDecksing

Phenotypes:
5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Madd):

behavior/neurological

integument

mortality/aging

nervous system

respiratory system

MADD for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Madd^tm1Ytk for MADD

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MADD

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		hsa-miR-3678-3p hsa-miR-181c hsa-miR-3166 hsa-miR-1197 hsa-miR-130a* hsa-miR-23c hsa-miR-181a hsa-miR-181d

		SwitchGear 3'UTR luciferase reporter plasmid: MADD 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MADD

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

TWEAK Pathway

TNFR1 Pathway

0.53

TNF Signaling

0.40

Deregulation of Rab and Rab Effector Genes in Bladder Cancer

Deregulation of Rab and Rab Effector Genes in Bladder Cancer

1.00

TRAF Pathway

TRAF Pathway

1.00

Apoptosis Modulation and Signaling

Apoptosis Modulation and Signaling

1.00

TNF receptor signaling pathway

TNF receptor signaling pathway

1.00

3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MADD

	TNF Signaling
	TRAF Pathway
	TNFR1 Pathway

5 BioSystems Pathways for MADD

	Apoptosis Modulation and Signaling
	Deregulation of Rab and Rab Effector Genes in Bladder Cancer
	Caspase cascade in apoptosis
	Ceramide signaling pathway
	TNF receptor signaling pathway

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for MADD

STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

5/18 Interacting proteins for MADD (Q8WXG6^{1, 3} ENSP00000310933⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 18)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PTPRN	Q16849¹^,³, ENSP00000295718⁴	EBI-728168,EBI-728153 I2D: score=3 STRING: ENSP00000295718
VPS13D	Q5THJ4³, ENSP00000350854⁴	I2D: score=2 STRING: ENSP00000350854
NPDC1	Q9NQX5³, ENSP00000360660⁴	I2D: score=1 STRING: ENSP00000360660
PIDD	Q9HB75³, ENSP00000337797⁴	I2D: score=2 STRING: ENSP00000337797
TNFRSF10A	O00220³, ENSP00000221132⁴	I2D: score=1 STRING: ENSP00000221132

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000187	activation of MAPK activity	IMP	9115275
GO:0006915	apoptotic process	IEA	--
GO:0007166	cell surface receptor signaling pathway	TAS	9115275
GO:0042981	regulation of apoptotic process	IMP	14735464
GO:0045860	positive regulation of protein kinase activity	--	--

MADD for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

MADD for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MADD

2 HMDB Compounds for MADD About this table

Compound	Synonyms	CAS #	PubMed Ids
Guanosine diphosphate	5'-GDP (see all 10)	146-91-8	--
Guanosine triphosphate	5'-GTP (see all 10)	86-01-1	--

4 Novoseek chemical compound relationships for MADD gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
gdp	66.9	4	12410563 (1), 11563850 (1), 15464446 (1), 9796103 (1)
gtp	56.4	4	12410563 (1), 11563850 (1), 15464446 (1), 9796103 (1)
vinblastine	46.1	1	14695193 (1)
etoposide	31.8	1	14695193 (1)

Search CenterWatch for drugs/clinical trials and news about MADD

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MADD gene (10 alternative transcripts):

NM_001135943.1 NM_001135944.1 NM_003682.3 NM_130470.2 NM_130471.2 NM_130472.2 NM_130473.2 NM_130474.2

NM_130475.2 NM_130476.2

Unigene Cluster for MADD:

MAP-kinase activating death domain

Hs.82548 [show with all ESTs]

Unigene Representative Sequence: NM_003682

18/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):

ENST00000453571 ENST00000342922(uc001neq.2) ENST00000428807 ENST00000402799(uc009yln.1 uc001neu.1)

ENST00000406482(uc001nev.1) ENST00000349238(uc001net.1) ENST00000311027(uc001ner.1)

ENST00000407859(uc001nes.1) ENST00000534808 ENST00000395344 ENST00000444117

ENST00000395336(uc001nex.2) ENST00000526603 ENST00000402192(uc001nez.2 uc001new.2)

ENST00000422579 ENST00000489415 ENST00000524530 ENST00000524686

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		hsa-miR-3678-3p hsa-miR-181c hsa-miR-3166 hsa-miR-1197 hsa-miR-130a* hsa-miR-23c hsa-miR-181a hsa-miR-181d

		SwitchGear 3'UTR luciferase reporter plasmid: MADD 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MADD

Additional cDNA sequence:

AB002356.1 AF440100.1 AF440101.1 AF440102.1 AF440103.1 AF440434.1 AK292442.1 BC040484.1

U44953.1 U77352.1

20 DOTS entries:

DT.95196710 DT.100824108 DT.95196696 DT.95196704 DT.91680541 DT.95196665 DT.75126953 DT.100029601

DT.100824110 DT.100824109 DT.100646688 DT.87015779 DT.120754723 DT.40213898 DT.120754703 DT.120754733

DT.120754744 DT.91894316 DT.97848210 DT.91739600

24/268 AceView cDNA sequences (see all 268):

AU130871 CB115976 CD242691 AW999775 AA768186 NM_130470 CB164318 NM_003682

CA487563 NM_130474 BM757184 NM_130473 AB002356 AL041084 CB130946 AA771933

BM743699 CA435662 NM_130472 AA731365 BQ216930 BQ640625 AX747807 NM_130476

GeneLoc Exon Structure

5/21 Alternative Splicing Database (ASD) splice patterns (SP) for MADD (see all 21) About this scheme

ExUns:	1	^	2	^	3	^	4a	·	4b	·	4c	^	5	^	6	^	7a	·	7b	·	7c	·	7d	^	8a	·	8b	^	9a	·	9b	^	10a	·	10b	^	11	^	12	^	13	^	14	^	15	^	16	^	17a	·	17b	^
SP1:					-		-		-		-		-																-
SP2:													-																-
SP3:					-		-		-		-		-																-																						-
SP4:					-		-		-		-		-																-
SP5:			-		-		-		-		-		-																-

ExUns:	18a	·	18b	^	19	^	20	^	21	^	22a	·	22b	^	23a	·	23b	·	23c	·	23d	^	24	^	25	^	26	^	27a	·	27b	^	28a	·	28b	^	29	^	30	^	31	^	32	^	33	^	34	^	35	^	36	^
SP1:	-
SP2:	-
SP3:	-																								-														-
SP4:	-																								-														-
SP5:	-						-																		-														-

ExUns:	37	^	38a	·	38b	^	39a	·	39b	^	40a	·	40b
SP1:					-		-
SP2:			-		-		-
SP3:					-		-
SP4:					-		-
SP5:					-		-

ECgene alternative splicing isoforms for MADD

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MADD expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACTGGGCGCC

About this image

MADD expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Neural Tube

Spinal Neural Tube Cells

Neural Ectoderm

Eye

Retina

Eye

Spinal Cord

Presumptive Spinal Cord

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See MADD Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MADD

SOURCE GeneReport for Unigene cluster: Hs.82548

UniProtKB/Swiss-Prot: MADD_HUMAN, Q8WXG6

Tissue specificity: Highly expressed in fetal brain and kidney; adult testis, ovary, brain and heart. Isoform 5 is

constitutively expressed in all tissues. Isoform 7 is expressed in fetal liver and in several cancer cell lines

SABiosciences Expression via Pathway-Focused PCR Arrays including MADD:

TNF Ligands & Receptors in human mouse rat

Apoptosis 384HT in human mouse rat

Necrosis in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MADD

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for MADD gene from 7/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Madd^{1 , 5}	MAP-kinase activating death domain^{1, 5}	89.74(n)¹ 95.81(a)¹		2 (50.46 cM)⁵ 228355¹ NM_001177720.1¹ NP_001171191.1¹ 91137360⁵
chicken (Gallus gallus)	Aves	MADD¹	MAP-kinase activating death domain	76.57(n) 85.18(a)		423184 XM_421109.3 XP_421109.3
lizard (Anolis carolinensis)	Reptilia	MADD⁶	--	83(a)	1 ↔ 1	1(43825942-43890599)
African clawed frog (Xenopus laevis)	Amphibia	Xl.1613²	Xenopus laevis transcribed sequence with moderate similarity more	77.37(n)		CD255867.1
zebrafish (Danio rerio)	Actinopterygii	madd¹	MAP-kinase activating death domain	70.14(n) 75.62(a)		100150917 XM_001923953.3 XP_001923988.3
fruit fly (Drosophila melanogaster)	Insecta	rab3-GEF^{1 , 3}	neurotransmitter secretion RAB guanyl-nucleotide more³ CG5627-PC¹	41(a)³ 52.73(n)¹ 50(a)¹		32442¹ NM_001103513.2¹ NP_001096983.2¹
worm (Caenorhabditis elegans)	Secernentea	aex-3^{1 , 3}	Expression: neurons³ Protein AEX-3¹	41(a)³ 51.85(n)¹ 47.36(a)¹		X(786832-795009)³ 180420¹ NM_171618.2¹ NP_741710.1¹

ENSEMBL Gene Tree for MADD (if available)
TreeFam Gene Tree for MADD (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs41369747^1,2	C	--	46988284(+)	`CGCCCG/ACCTCA`	7	--	us2k¹		1		NA	46
rs77782011^1,2	C,F	--	46988376(+)	`CTAAGG/ATGAGG`	7	--	us2k¹		1		EA	120
rs1685405^1,2	C	--	46988654(+)	`TGGGAG/AGGTGG`	10	--	us2k¹		3		MN NA	188
rs16938582^1,2	C,F	--	46989353(+)	`GTGGCA/GTTAAA`	10	--	us2k¹		3		MN EA	476
rs190689163^1,2	C	--	46989954(+)	`AGCATA/GCCTTG`	10	--	us2k¹ ut5¹		0	--	--	--	--
rs45489595^1,2		--	46990612(+)	`GGCCCC/TGGCCC`	10	--	int¹ us2k¹		0	--	--	--	--
rs75960102^1,2	C,F	--	46990751(+)	`GGCCTG/AGCCAG`	10	--	ut5¹ int¹		1		EA	120
rs79093948^1,2	C	--	46991388(+)	`CTGTGC/TTGATG`	10	--	int¹		4		WA NA EA	360
rs1133880^1,2	C	--	46991632(-)	`AGTCCG/CACATC`	10	--	int¹		3		NA	6
rs73450117^1,2	C	--	46991980(+)	`CTCAGG/AGTCCT`	10	--	int¹		2		WA	120

HapMap Linkage Disequilibrium report for MADD (47290712 - 47351582 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MADD: --
Human Gene Mutation Database (HGMD): MADD

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MADD

DNA2.0 Custom Variant and Variant Library Synthesis for MADD

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

MADD for disorders           About GeneDecksing

OMIM gene information: 603584    OMIM disorders: --

13 diseases for MADD:    About MalaCards

brown-vialetto-van laere syndrome glucagonoma insulinoma carnitine deficiency

coronary heart disease hepatitis b alzheimer's disease thyroid cancer

thyroiditis hepatitis neuroblastoma leukemia

neuronitis

3 Novoseek disease relationships for MADD gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
necrosis	41	14	11577081 (2), 19289468 (2), 17314102 (1), 14695193 (1) (see all 7)
cancer	29.2	16	12410563 (3), 17314102 (2), 16682944 (2), 19289468 (2) (see all 6)
tumors	25.9	22	19190106 (3), 11577081 (2), 14695193 (2), 19289468 (2) (see all 9)

Human Genome Epidemiology (HuGE) Navigator: MADD (19 documents)

Export disorders for MADD gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for MADD gene, integrated from 9 sources (see all 64):
(articles sorted by number of sources associating them with MADD)

Utopia: connect your pdf to the dynamic
world of online information

The human DENN gene: genomic organization, alternative splicing, and localization to chromosome 11p11.21-p11.22. (PubMed id 9796103)^{1, 2, 3, 9} Chow V.T.K.... Lim D. (1998)
MADD, a novel death domain protein that interacts with the type 1 tumor necrosis factor receptor and activates mitogen-activated protein kinase. (PubMed id 9115275)^{1, 2, 3} Schievella A.R.... Lin L.-L. (1997)
IG20, in contrast to DENN-SV, (MADD splice variants) suppresses tumor cell survival, and enhances their susceptibility to apoptosis and cancer drugs. (PubMed id 14716293)^{1, 2, 9} Efimova E.V.... Prabhakar B.S. (2004)
Contrasting effects of IG20 and its splice isoforms, MADD and DENN- SV, on tumor necrosis factor alpha-induced apoptosis and activation of caspase-8 and -3. (PubMed id 11577081)^{1, 2, 9} Al-Zoubi A.M.... Prabhakar B.S. (2001)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Down-regulation of DENN/MADD, a TNF receptor binding protein, correlates with neuronal cell death in Alzheimer's disease brain and hippocampal neurons. (PubMed id 15007167)^{1, 2} Del Villar K. and Miller C.A. (2004)
Antisense abrogation of DENN expression induces apoptosis of leukemia cells in vitro, causes tumor regression in vivo and alters the transcription of genes involved in apoptosis and the cell cycle. (PubMed id 14735464)^{1, 2} Lim K.M.... Chow V.T.K. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)^{1, 2} Nagase T.... Ohara O. (1997)
DENN, a novel human gene differentially expressed in normal and neoplastic cells. (PubMed id 8988362)^{1, 2} Chow V.T.K. and Lee S.S. (1996)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 8567	HGNC: 6766	AceView: MADD	Ensembl:ENSG00000110514	euGenes: HUgn8567
ECgene: MADD	H-InvDB: MADD

(According to HUGE)
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HUGE: KIAA0358

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for MADD	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for MADD	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for MADD gene
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Patent Information for MADD gene:
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GeneCards and IP:
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