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MACROD2 Gene

protein-coding GIFtS: 43

GC20P013925

MACRO domain containing 2
(Previous name: chromosome 20 open reading frame 133 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: C20orf133)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
C20orf133 ^², ³
C2orf133 ^⁵
OTTHUMP00000109425 ^²
dJ631M13.5 ^¹, ²

Descriptions
MACRO domain containing 2 ^²
chromosome 20 open reading frame 133 ^¹

External Ids
HGNC: 16126¹
Entrez Gene: 140733²
UniProtKB: A1Z1Q3³
Ensembl: ENSG00000172264⁷

Search outside databases for aliases for MACROD2 gene

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:

UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p12.1 Ensembl cytogenetic band: 20p12.1 HGNC cytogenetic band: 20p12.1

MACROD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20P013925: (about GC identifiers)

Start:	13,924,146 bp from pter
End:	15,981,842 bp from pter
Size:	2,057,697 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000020.9 NT_011387.8

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: MACD2_HUMAN, A1Z1Q3 (See protein sequence)

Recommended Name: MACRO domain-containing protein 2

Size: 448 amino acids; 50050 Da

Sequence caution: Sequence=BAD18504.1; Type=Frameshift; Positions=151;

Secondary accessions: B0QZ39 B3KWV0 Q0P6D5 Q495E0 Q5W199 Q6ZN71

Alternative splicing: 6 isoforms: A1Z1Q3-1 A1Z1Q3-2 A1Z1Q3-3 A1Z1Q3-4 A1Z1Q3-5 A1Z1Q3-6

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_001028259.1 NP_542407.2

ENSEMBL proteins:

ENSP00000367297 ENSP00000384630 ENSP00000345625 ENSP00000217246 ENSP00000385516 ENSP00000309809

ENSP00000385290

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
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Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

Antibodies for MACROD2:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse Antibodies at Sigma-Aldrich
	Browse R&D Systems for Antibodies
	Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Search Novus for antibodies for MACROD2

Assays for MACROD2:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry A1Z1Q3

ProtoNet protein and cluster: A1Z1Q3

UniProtKB/Swiss-Prot: MACD2_HUMAN, A1Z1Q3

Similarity: Contains 1 Macro domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (MACROD2)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_001033086

Applied Biosystems Silencer® siRNAs for MACROD2

Sigma-Aldrich siRNA for MACROD2

Sigma-Aldrich shRNA for MACROD2

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001033087
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001033087
untagged cDNA clones in CMV expression vector (see all 3): BC018687

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_080676

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Interacting protein for MACROD2 (ENSP00000217246³) via UniProtKB, MINT, and/or STRING

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FLRT3	ENSP00000339912³	STRING (score=.95)

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
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Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for MACROD2

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (MACROD2)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_001033086

Sigma-Aldrich siRNA for MACROD2

Sigma-Aldrich shRNA for MACROD2

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001033087 NM_080676

REFSEQ mRNAs for MACROD2 gene (2 alternative transcripts):

NM_001033087.1 NM_080676.5

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001033087 NM_080676

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001033087
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001033087
                                 untagged cDNA clones in CMV expression vector (see all 3): BC018687

Additional cDNA sequence:

AK125899.1 AK131348.1 BC018687.1 BC035876.1 BC036403.2 BC128036.1 EF159161.1

6 DOTS entries:

DT.102837421 DT.101981102 DT.427297 DT.99933740 DT.91829366 DT.120824343

5 AceView cDNA sequences:

NM_080676 BP376156 AL935093 AI298304 BP375202

Unigene Cluster for MACROD2:

MACRO domain containing 2

Hs.661576 [show with all ESTs]

Unigene Representative Sequence: NM_080676

GeneLoc Exon Structure

7 Ensembl transcripts including schematic representations:

ENST00000378058 ENST00000403616 ENST00000353323 ENST00000217246 ENST00000407045 ENST00000310348

ENST00000402914

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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MACROD2 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for MACROD2

¹ / ²

6 probe-sets matching MACROD2 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
79024_at²	U95-D	1	0.81	1.00	1.00	1.00	--	--	--	--	--
235278_at²	U133-B	1	1.00	1.00	--	--	--	--	--	--	--
1561677_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
235278_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1563209_a_at²	U133Plus2	2	1.00	0.95	--	--	--	--	--	--	--
1553564_at²	U133Plus2	1	0.46	1.00	--	--	--	--	--	--	--

GeneDecks MACROD2 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GAAGGACGGG

SOURCE GeneReport for Unigene cluster: Hs.661576

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for MACROD2 gene from 4 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
chimpanzee (Pan troglodytes)	MACROD2¹	--	MACRO domain containing 2	98.9(n) 97.88(a)	735753 XM_001136384.1 XP_001136384.1
mouse (Mus musculus)	Macrod2⁵	2	MACRO domain containing 2	--	BC076574
zebrafish (Danio rerio)	zgc:65960¹	--	zgc:65960	57.55(n) 52.28(a)	393521 NM_200549.1 NP_956843.1
worm (Caenorhabditis elegans)	B0035.3¹	--	hypothetical protein	52.33(n) 46.24(a)	178044 NM_069726.3 NP_502127.1

About this table Species with no ortholog for MACROD2

ENSEMBL Gene Tree for MACROD2

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

Paralogs for MACROD2 gene

GDAP2² MACROD1²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/14199 NCBI SNPs in MACROD2 are shown (see all 14199 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 4987)

AB	SNP ID	Valid	Chr 20 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs199308^1,2	A,C,F,O	15125625(+)	`AGAGCA/GCATTT`	2	--	ut5¹ int¹		5	NA	324
	rs8116533^1,2	A,C,F,H	15981704(+)	`AAACCG/AGCATT`	2	--	ut3¹		4	EU EA WA	414
	rs8117909^1,2	A,C,F,H	15982051(+)	`TAGCTG/ACAAAT`	2	--	ng3¹		8	EU EA WA	834
	rs1225890^1,2	A,C,F,H	15981022(+)	`TTTCCT/CGCACA`	2	--	ut3¹ ese³		11	EU EA WA NA	982
	rs1225889^1,2	C,F,H,O	15980256(+)	`TTGCCA/GTTAGA`	2	--	ut3¹		7	EU EA WA NA	562
	rs1228628^1,2	C,F,H,O	15981064(+)	`CCAATC/ACAGCT`	2	--	ut3¹ ese³		8	MN EU EA WA NA	726
	rs8117979^1,2	A,C,F,H	15982193(+)	`ACCATG/TGCTGG`	2	--	ng3¹		11	EU EA WA NA	982
	rs6043689^1,2	A,C,F,H	15981897(+)	`TAAAAA/CTACTC`	2	--	ng3¹		7	EU EA WA NA	560
	rs1225891^1,2	A,C,F,H	15981185(+)	`GTCCTT/CGCTGT`	2	--	ut3¹ ese³		9	MN EU EA WA NA	820
	rs199306^1,2	C,F,H,O	15125520(+)	`GCAGAT/AGACAG`	2	--	ut5¹ int¹ ese³		12	EA NA EU WA	1040

About this table

HapMap Linkage Disequilibrium images for MACROD2 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 611567

Human Gene Mutation Database: MACROD2
Human Genome Epidemiology Navigator: MACROD2 (3 documents)

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10 PubMed articles for MACROD2 gene:

Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)³ Trynka G....Wijmenga C. (2009)
Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan. (PubMed id 18593871)³ Kuniba H....Niikawa N. (2008)
Screening for replication of genome-wide SNP associations in sporadic ALS. (PubMed id 18987618)³ Cronin S....Hardiman O. (2008)
The C20orf133 gene is disrupted in a patient with Kabuki syndrome. (PubMed id 17586838)³ Maas N.M....Vermeesch J.R. (2007)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)³ Kimura K.... Sugano S. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)⁴ Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)⁴ Ota T....Sugano S. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)³ Strausberg R.L....Marra M.A. (2002)
The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)⁴ Deloukas P....Rogers J. (2001)
Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )⁴ Aoki H.... Hino O. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 140733	HGNC: 16126	AceView: C20orf133	Ensembl:ENSG00000172264	euGenes: HUgn140733
ECgene: MACROD2	H-InvDB: MACROD2

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Licensable Technologies for MACROD2
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for MACROD2:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for MACROD2-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for MACROD2		Browse antibodies at Sigma-Aldrich
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	Lentivirus-delivered shRNAs for MACROD2		Browse small molecules at Sigma-Aldrich
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	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

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MACROD2 Gene

protein-coding GIFtS: 43

Aliases &
Descriptions
for MACROD2

Summaries
for MACROD2

Genomic Location
for MACROD2

Proteins
for MACROD2

Protein Domains/
Families
for MACROD2

Gene Function
for MACROD2

Pathways & Interactions
for MACROD2

Drugs & Compounds
for MACROD2

Transcripts
for MACROD2

Expression
for MACROD2

Orthologs
for MACROD2

Paralogs
for MACROD2

SNPs/Variants
for MACROD2

Disorders & Mutations
for MACROD2

Medical News
for MACROD2

Publications
for MACROD2

Search for MACROD2

Genome Databases showing MACROD2

Other Databases showing MACROD2

Specialized Databases showing MACROD2

Licensable Technologies
for MACROD2

Services
for MACROD2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

MACROD2 Gene

protein-coding GIFtS: 43

Aliases & Descriptionsfor MACROD2

Summariesfor MACROD2

Genomic Locationfor MACROD2

Proteinsfor MACROD2

Protein Domains/Familiesfor MACROD2

Gene Functionfor MACROD2

Pathways & Interactionsfor MACROD2

Drugs & Compoundsfor MACROD2

Transcriptsfor MACROD2

Expression for MACROD2

Orthologsfor MACROD2

Paralogsfor MACROD2

SNPs/Variantsfor MACROD2

Disorders & Mutationsfor MACROD2

Medical Newsfor MACROD2

Publicationsfor MACROD2

Search for MACROD2

Genome Databases showing MACROD2

Other Databases showing MACROD2

Specialized Databases showing MACROD2

Licensable Technologiesfor MACROD2

Servicesfor MACROD2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for MACROD2

Summaries
for MACROD2

Genomic Location
for MACROD2

Proteins
for MACROD2

Protein Domains/
Families
for MACROD2

Gene Function
for MACROD2

Pathways & Interactions
for MACROD2

Drugs & Compounds
for MACROD2

Transcripts
for MACROD2

Expression
for MACROD2

Orthologs
for MACROD2

Paralogs
for MACROD2

SNPs/Variants
for MACROD2

Disorders & Mutations
for MACROD2

Medical News
for MACROD2

Publications
for MACROD2

Licensable Technologies
for MACROD2

Services
for MACROD2