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AMPD2 Gene

protein-coding GIFtS: 70
GCID: GC01P110162

Adenosine Monophosphate Deaminase 2

(Previous name: adenosine monophosphate deaminase 2 (isoform L))

See AMPD2-related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Adenosine Monophosphate Deaminase 2¹ ²		AMPD Isoform L¹
Adenosine Monophosphate Deaminase 2 (Isoform L)¹ ²		AMPD²
EC 3.5.4.6³ ⁸		AMP Deaminase 2²
SPG63² ⁵		AMP Deaminase Isoform L³

External Ids:	HGNC: 469¹	Entrez Gene: 271²	Ensembl: ENSG00000116337⁷	OMIM: 102771⁵	UniProtKB: Q01433³

Export aliases for AMPD2 gene to outside databases

Previous GC identifers: GC01P110641 GC01P109091 GC01P109264 GC01P109461 GC01P109874 GC01P109963 GC01P108054

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for AMPD2 Gene:

The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein,

which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants

encoding different isoforms have been found for this gene. (provided by RefSeq, Apr 2012)

GeneCards Summary for AMPD2 Gene:

AMPD2 (adenosine monophosphate deaminase 2) is a protein-coding gene. Diseases associated with AMPD2 include pontocerebellar hypoplasia, type 9, and spastic paraplegia 63. GO annotations related to this gene include AMP deaminase activity. An important paralog of this gene is AMPD1.

UniProtKB/Swiss-Prot: AMPD2_HUMAN, Q01433

Function: AMP deaminase plays a critical role in energy metabolism

Gene Wiki entry for AMPD2 Gene

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000001.10 NT_032977.10 NC_018912.2

Regulatory elements:

Regulatory transcription factor binding sites in the AMPD2 gene promoter:
SRF CP2 SRF (504 AA) C/EBPalpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): AMPD2 promoter sequence

Search Chromatin IP Primers for AMPD2

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AMPD2

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

Entrez Gene cytogenetic band: 1p13.3 Ensembl cytogenetic band: 1p13.3 HGNC cytogenetic band: 1p13.3

AMPD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AMPD2 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P110162: view genomic region (about GC identifiers)

Start:	110,158,726 bp from pter	End:	110,174,677 bp from pter
Size:	15,952 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: AMPD2_HUMAN, Q01433 (See protein sequence)

Recommended Name: AMP deaminase 2

Size: 879 amino acids; 100688 Da

Cofactor: Binds 1 zinc ion per subunit (By similarity)

Subunit: Homotetramer

Secondary accessions: B4DK50 B4DZI5 E9PNG0 Q14856 Q14857 Q16686 Q16687 Q16688 Q16729 Q5T693

Q5T695 Q96IA1 Q9UDX8 Q9UDX9 Q9UMU4

Alternative splicing: 5 isoforms: Q01433-1 Q01433-2 Q01433-3 Q01433-4 Q01433-5 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AMPD2: NX_Q01433

Explore proteomics data for AMPD2 at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

Selected DME Specific Peptides for AMPD2 (Q01433) (see all 12)

NVRWLVQ

WKLSSCD

PHRDFYN

SPNVRWL

See AMPD2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (5 alternative transcripts):

NP_001244289.1 NP_001244290.1 NP_004028.3 NP_631895.1 NP_981949.1

ENSEMBL proteins:

ENSP00000433739 ENSP00000345498 ENSP00000436303 ENSP00000432344 ENSP00000436541

ENSP00000431975 ENSP00000256578 ENSP00000351573 ENSP00000358855 ENSP00000434891

ENSP00000431904 ENSP00000437164 ENSP00000377292 ENSP00000437025

Reactome Protein details: Q01433

AMPD2 Human Recombinant Protein Products:

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	Novus Biologicals AMPD2 Proteins Novus Biologicals AMPD2 Lysates
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	Cloud-Clone Corp. Proteins for AMPD2
	Search eBioscience for Proteins for AMPD2
	antibodies-online proteins for AMPD2 (5 products)
	antibodies-online peptides for AMPD2

AMPD2 Antibody Products:

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	antibodies-online antibodies for AMPD2 (35 products)

AMPD2 Assay Products:

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	Cloud-Clone Corp. ELISAs for AMPD2 Cloud-Clone Corp. CLIAs for AMPD2
	Search eBioscience for ELISAs for AMPD2
	antibodies-online kits for AMPD2 (6 products)

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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3 InterPro protein domains:

IPR001365 A/AMP_deaminase_dom

IPR006329 AMP_deaminase

IPR006650 A/AMP_deam_AS

Graphical View of Domain Structure for InterPro Entry Q01433

ProtoNet protein and cluster: Q01433

1 Blocks protein domain: IPB006650 Adenosine/AMP deaminase active site

UniProtKB/Swiss-Prot: AMPD2_HUMAN, Q01433

Similarity: Belongs to the adenosine and AMP deaminases family

Find genes that share domains with AMPD2 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: AMPD2_HUMAN, Q01433

Function: AMP deaminase plays a critical role in energy metabolism

Catalytic activity: AMP + H(2)O = IMP + NH(3)

Genatlas biochemistry entry for AMPD2:

adenosine monophosphate deaminase 2 (88kDa) (isoform L,liver),adenine nucleotide catabolic pathway,purine

nucleotide cycle

Enzyme Number (IUBMB): EC 3.5.4.6¹ ²

Gene Ontology (GO): 3 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003876	AMP deaminase activity	NAS	8764830
GO:0019239	deaminase activity	--	--
GO:0046872	metal ion binding	IEA	--

Find genes that share ontologies with AMPD2 About GenesLikeMe

Phenotypes:
2 GenomeRNAi human phenotypes for AMPD2:

Increased G1 DNA content

Synthetic lethal with paclitax

3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Ampd2):

homeostasis/metabolism

immune system

renal/urinary system

Find genes that share phenotypes with AMPD2 About GenesLikeMe

Animal Models:
MGI mouse knock-out Ampd2^tm1Tm for AMPD2

genOway: Develop your customized and physiologically relevant rodent model for AMPD2

miRNA Products:		miRTarBase miRNAs that target AMPD2: hsa-mir-939-5p (MIRT036636), hsa-let-7a-5p (MIRT052568), hsa-let-7e-5p (MIRT051656), hsa-mir-24-3p (MIRT050367), hsa-mir-10a-5p (MIRT047663), hsa-mir-484 (MIRT041932)

		Block miRNA regulation of human, mouse, rat AMPD2 using miScript Target Protectors
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		hsa-miR-3678-3p hsa-miR-34c-5p hsa-miR-3194-5p hsa-miR-449b hsa-miR-513a-5p hsa-miR-27a hsa-miR-200a hsa-miR-3120-3p

		SwitchGear 3'UTR luciferase reporter plasmid: AMPD2 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for AMPD2
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for AMPD2

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		GenScript: all cDNA clones in your preferred vector (see all 3): AMPD2 (NM_139156)
		Sino Biological Human cDNA Clone for AMPD2
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for AMPD2
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMPD2

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytosol	4
mitochondrion	3
nucleus	2
peroxisome	2
cytoskeleton	1

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Gene Ontology (GO): 2 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005575	cellular_component	ND	--
GO:0005829	cytosol	TAS	--

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for AMPD2 About

See pathways by source

Powered
by

SuperPath

Contained pathways About

Metabolism

Metabolism

0.38

Metabolic pathways

0.38

Purine metabolism (KEGG)

Purine metabolism

0.38

ATP/ITP metabolism

0.31

Purine metabolism (REACTOME)

	Purine metabolism	0.42			Purine salvage	0.00
	Metabolism of nucleotides	0.42

Find genes that share SuperPaths with AMPD2 About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

1 GeneGo (Thomson Reuters) Pathway for AMPD2

ATP/ITP metabolism

1 Reactome Pathway for AMPD2

Purine salvage

2 Kegg Pathways (Kegg details for AMPD2):

	Purine metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: AMPD2_HUMAN, Q01433

Pathway: Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for AMPD2
Interactions:

Search GeneGlobe Interaction Network for AMPD2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for AMPD2 (Q01433³ ENSP00000256578⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 82)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBC	P0CG48³, ENSP00000344818⁴	I2D: score=1 STRING: ENSP00000344818
MARCH6	O60337³	I2D: score=3
NEDD4L	Q96PU5³	I2D: score=3
PIN1	Q13526³	I2D: score=3
PRPF40A	O75400³	I2D: score=3

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Gene Ontology (GO): Selected biological process terms (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006144	purine nucleobase metabolic process	TAS	--
GO:0006163	purine nucleotide metabolic process	--	--
GO:0006188	IMP biosynthetic process	IGI	--
GO:0032264	IMP salvage	IEA	--
GO:0043101	purine-containing compound salvage	TAS	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for AMPD2

5 HMDB Compounds for AMPD2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Adenosine monophosphate	5'-AMP (see all 28)	61-19-8	--
Ammonia	NH3 (see all 31)	7664-41-7	--
Inosinic acid	5'-IMP (see all 9)	131-99-7	--
Propranolol	Dociton (see all 8)	525-66-6	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

1 Novoseek inferred chemical compound relationship for AMPD2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
adenylate	30.7	1	7698751 (1)

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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for AMPD2 gene (5 alternative transcripts):

NM_001257360.1 NM_001257361.1 NM_004037.7 NM_139156.3 NM_203404.1

Unigene Cluster for AMPD2:

Adenosine monophosphate deaminase 2

Hs.82927 [show with all ESTs]

Unigene Representative Sequence: NM_001257360

Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):

ENST00000531734 ENST00000526301(uc009wfg.1) ENST00000342115(uc001dyb.1 uc009wfh.1 uc001dye.1)

ENST00000469039 ENST00000474459 ENST00000528667 ENST00000531203 ENST00000256578(uc001dyc.1 uc010ovr.1)

ENST00000358729 ENST00000369840 ENST00000486282 ENST00000528270 ENST00000527846

ENST00000528454(uc010ovs.1) ENST00000459643 ENST00000393688(uc001dyd.1)

ENST00000534144 ENST00000525415

miRNA Products:		Block miRNA regulation of human, mouse, rat AMPD2 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate AMPD2 (see all 16):
		hsa-miR-3678-3p hsa-miR-34c-5p hsa-miR-3194-5p hsa-miR-449b hsa-miR-513a-5p hsa-miR-27a hsa-miR-200a hsa-miR-3120-3p

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		GenScript: all cDNA clones in your preferred vector (see all 3): AMPD2 (NM_139156)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for AMPD2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AMPD2

Primer Products:		OriGene qPCR primer pairs and template standards for AMPD2 OriGene qSTAR qPCR primer pairs in human, mouse for AMPD2
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat AMPD2
		QuantiTect SYBR Green Assays in human, mouse, rat AMPD2
		QuantiFast Probe-based Assays in human, mouse, rat AMPD2

Additional mRNA sequence:

AK025706.1 AK296394.1 AK302939.1 AK308907.1 AK314494.1 BC007711.2 BC030217.1 BC075844.1

S47833.1 U16267.1 U16268.1 U16270.1

24 DOTS entries:

DT.75148818 DT.447282 DT.101969791 DT.100810284 DT.121383307 DT.100839497 DT.95331169 DT.121383296

DT.91775668 DT.99942917 DT.95351065 DT.100700047 DT.95331206 DT.100810281 DT.121383338 DT.91746871

DT.97848392 DT.100810283 DT.121383286 DT.121383299 DT.121383301 DT.121383349 DT.91775658 DT.70104272

Selected AceView cDNA sequences (see all 320):

BQ219586 CA488521 BM542129 BM824027 BM724781 BM714441 AU121924 S47833

BM918063 BU624139 BU623504 AW004012 U16268 BG194460 BG150543 NM_139156

BQ897861 BF222453 BM557597 BU733125 BE501864 BI908838 BU189675 BQ690598

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for AMPD2 (see all 18) About this scheme

ExUns:	1a	·	1b	^	2	^	3a	·	3b	^	4	^	5a	·	5b	^	6a	·	6b	^	7a	·	7b	^	8a	·	8b	·	8c	^	9	^	10a	·	10b	·	10c	^	11a	·	11b	·	11c	·	11d	·	11e	·	11f	·	11g	^
SP1:					-		-		-		-		-		-						-				-														-		-
SP2:																									-														-		-
SP3:																					-				-														-		-
SP4:					-		-		-		-		-		-		-		-		-				-														-		-
SP5:											-		-		-						-				-

ExUns:	12	^	13a	·	13b	^	14a	·	14b	^	15a	·	15b	^	16a	·	16b	^	17a	·	17b	^	18a	·	18b	·	18c	^	19	^	20	^	21a	·	21b	^	22a	·	22b	·	22c
SP1:															-				-						-		-						-
SP2:															-				-						-		-						-
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for AMPD2

(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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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AMPD2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: AGAAATAAAG

About this image

AMPD2 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 7) fully expand


Brain (Nervous System) fully expand to see all 5 entries
Cerebral Cortex

Ovary (Reproductive System)
Oviduct

Pancreas (Endocrine System)
Islets of Langerhans

Testis (Reproductive System)
Leydig Cells Testis Interstitium

Bone (Muscoskeletal System)
Bone Marrow

AMPD2 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

AMPD2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.82927

UniProtKB/Swiss-Prot: AMPD2_HUMAN, Q01433

Tissue specificity: Three isoforms are present in mammals: AMP deaminase 1 is the predominant form in skeletal

muscle; AMP deaminase 2 predominates in smooth muscle, non-muscle tissue, embryonic muscle and undifferentiated

myoblasts; AMP deaminase 3 is found in erythrocytes

Custom PCR Arrays for AMPD2

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMPD2

(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)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for AMPD2 gene from Selected species (see all 26) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ampd2^{1 , 5}	adenosine monophosphate deaminase 2^{1, 5}	90.37(n)¹ 97.61(a)¹		3 (46.83 cM)⁵ 109674¹ NM_028779.4¹ NP_083055.1¹ 108074062⁵
chicken (Gallus gallus)	Aves	AMPD2⁶	adenosine monophosphate deaminase 2	88(a)	1 ↔ 1	AADN03013667.1(21-3184)
lizard (Anolis carolinensis)	Reptilia	AMPD2⁶	adenosine monophosphate deaminase 2	86(a)	1 ↔ 1	4(105821161-105892514)
tropical clawed frog (Xenopus tropicalis)	Amphibia	ampd2¹	adenosine monophosphate deaminase 2	73(n) 82.12(a)		100490248 XM_002932984.2 XP_002933030.2
zebrafish (Danio rerio)	Actinopterygii	ampd2⁶ AMPD2 (2 of 2)⁶	adenosine monophosphate deaminase 2	78(a) 76(a)	1 ↔ many 1 ↔ many	8(26100188-26144559) ENSDARG00000029952 22(2373493-2417919) ENSDARG00000088554
fruit fly (Drosophila melanogaster)	Insecta	CG32626¹	CG32626	64.19(n) 62.86(a)		32352 NM_001258731.1 NP_001245660.1
worm (Caenorhabditis elegans)	Secernentea	C34F11.3b³ C34F11.3¹	C34F11.3¹	57(a) (best of 2)³ 58.65(n)¹ 59.65(a)¹		II(5202470-5209649)³ 173891¹ NM_062573.5¹ NP_494974.3¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	AMD1(YML035C)⁴ AMD1¹	AMP deaminase, tetrameric enzyme that catalyzes the more⁴ AMD1¹	51.03(n)¹ 53.42(a)¹		13(208860-206428)⁴ 854973^{1, 4} NP_013677.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	FAC1¹	FAC1	51.97(n) 49.73(a)		818408 NM_179963.2 NP_850294.1
rice (Oryza sativa)	Liliopsida	Os.8779²	Oryza sativa (japonica cultivar-group) cDNA cloneJ more	72.76(n)		AK102007.1

ENSEMBL Gene Tree for AMPD2 (if available)
TreeFam Gene Tree for AMPD2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for AMPD2 gene

AMPD1² AMPD3²

2 SIMAP similar genes for AMPD2 using alignment to 7 protein entries: AMPD2_HUMAN (see all proteins):

AMPD1 AMPD3

Find genes that share paralogs with AMPD2 About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs138353433^1,2		--	110160566(+)	`TAAGCG/TCCCCA`	2	--	us2k¹		0	--	--	--	--
rs181550362^1,2	C	--	110160632(+)	`ACCCCA/GGGAAG`	2	--	us2k¹		0	--	--	--	--
rs187105072^1,2		--	110160658(+)	`CTGTGG/TAGGCA`	2	--	us2k¹		0	--	--	--	--
rs149638240^1,2		--	110160680(+)	`TTACAG/TATTTT`	2	--	us2k¹		0	--	--	--	--
rs143373095^1,2	C	--	110160757(+)	`AATATA/GAAGAA`	2	--	us2k¹		0	--	--	--	--
rs74915672^1,2		--	110160852(+)	`ATAAGC/TAGGAC`	2	--	us2k¹		0	--	--	--	--
rs191888557^1,2		--	110160910(+)	`TTGTAA/GACATT`	2	--	us2k¹		0	--	--	--	--
rs114800609^1,2	F	--	110161002(+)	`TTGTTC/TGACCT`	2	--	us2k¹		1		WA	118
rs183939012^1,2		--	110161085(+)	`CAGCTC/GTTTTT`	2	--	us2k¹		0	--	--	--	--
rs146863757^1,2	C	--	110161233(+)	`TGTAC-/GTGTGTG`	3	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for AMPD2 (110158726 - 110174677 bp)

Structural Variations
Database of Genomic Variants (DGV) 3 variations for AMPD2: About this table

Variant ID	Type	Subtype	PubMed ID
nsv872142	CNV	Loss	21882294
nsv2299	CNV	Loss	18451855
nsv510951	CNV	Complex	20534489

Human Gene Mutation Database (HGMD): AMPD2

Site Specific Mutation Identification with PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 102771
OMIM disorders: 615686
2 diseases for AMPD2:
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pontocerebellar hypoplasia, type 9 spastic paraplegia 63

1 inferred disease relationship from the University of Copenhagen DISEASES database for AMPD2:

Liver neoplasm

Find genes that share disorders with AMPD2 About GenesLikeMe

Genetic Association Database (GAD): AMPD2
Human Genome Epidemiology (HuGE) Navigator: AMPD2 (1 document)

Export disorders for AMPD2 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 AMPD2 gene, integrated from 10 sources (see all 40):
(articles sorted by number of sources associating them with AMPD2)

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

Characterization of human AMP deaminase 2 (AMPD2) gene expression reveals alternative transcripts encoding variable N-terminal extensions of isoform L. (PubMed id 8526848)^{1, 2, 9} Van den Bergh F. and Sabina R.L. (Biochem. J. 1995)
Molecular cloning of AMP deaminase isoform L. Sequence and bacterial expression of human AMPD2 cDNA. (PubMed id 1429593)^{1, 2, 9} Bausch-Jurken M.T.... Sabina R.L. (J. Biol. Chem. 1992)
Cloning, sequence and characterization of the human AMPD2 gene: evidence for transcriptional regulation by two closely spaced promoters. (PubMed id 8764830)^{1, 2, 9} Mahnke-Zizelman D.K.... Sabina R.L. (Biochim. Biophys. Acta 1996)
Cloning of human AMP deaminase isoform E cDNAs. Evidence for a third AMPD gene exhibiting alternatively spliced 5'-exons. (PubMed id 1400401)^{1, 3, 9} Mahnke-Zizelman D.K. and Sabina R.L. (J. Biol. Chem. 1992)
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PubMed id 24482476)^{1, 3} Novarino G....Gleeson J.G. (Science 2014)
Genome-wide association study of recurrent early-onset major depressive disorder. (PubMed id 20125088)^{1, 4} Shi J....Levinson D.F. (Mol. Psychiatry 2011)
Integrative predictive model of coronary artery calcification in atherosclerosis. (PubMed id 19948975)^{1, 4} McGeachie M....Ramoni M.F. (Circulation 2009)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (Cell 2006)
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. (Genome Res. 2004)
Expression patterns of AMP-deaminase isozymes in human hepatocellular carcinoma (HCC). (PubMed id 18493842)^{1, 9} SzydA8owska M. and Roszkowska A. (Mol. Cell. Biochem. 2008)

(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, Kegg, and/or H-InvDB)
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Entrez Gene: 271	HGNC: 469	AceView: AMPD2	Ensembl:ENSG00000116337	euGenes: HUgn271
ECgene: AMPD2	Kegg: 271	H-InvDB: AMPD2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for AMPD2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for AMPD2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for AMPD2 gene:
Search GeneIP for patents involving AMPD2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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