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NAALADL2 Gene

protein-coding GIFtS: 51

GC03P176059

N-acetylated alpha-linked acidic dipeptidase-like 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Descriptions
N-acetylated alpha-linked acidic dipeptidase 2 ^²
N-acetylated alpha-linked acidic dipeptidase-like 2 ^²
NAALADase L2 ^³

External Ids
HGNC: 23219¹
Entrez Gene: 254827²
UniProtKB: Q58DX5³
Ensembl: ENSG00000177694⁷

Search outside databases for aliases for NAALADL2 gene

Previous GC identifer: GC03P175899

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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UniProtKB/Swiss-Prot: NADL2_HUMAN, Q58DX5

Function: May be catalytically inactive

(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

Transcription factor binding sites upstream to the NAALADL2 gene

Entrez Gene cytogenetic band: 3q26.31 Ensembl cytogenetic band: 3q26.31 HGNC cytogenetic band: 3q26.3

NAALADL2 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 3 GeneLoc Exon Structure

GeneLoc location for GC03P176059: (about GC identifiers)

Start:	176,059,805 bp from pter
End:	177,006,122 bp from pter
Size:	946,318 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000003.10 NT_005612.15

(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: NADL2_HUMAN, Q58DX5 (See protein sequence)

Recommended Name: Inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2

Size: 795 amino acids; 88705 Da

Subcellular location: Membrane; Single-pass type II membrane protein (Potential)

Miscellaneous: The gene maps to 3q26.31, a region associated with Cornelia de Lange syndrome.

However, PubMed:15168106 failed to identify specific mutations in a panel of DNA samples from

patients with Cornelia de Lange syndrome

Caution: Although related to the peptidase M28 family, it is probably inactive as an hydrolase due

to lack of the conserved zinc-binding and active sites

Sequence caution: Sequence=CAE54974.2; Type=Miscellaneous discrepancy; Note=Contaminating sequence

at the C-terminus; Sequence=CAH56310.1; Type=Frameshift; Positions=509, 518;

Secondary accessions: Q658X9 Q6H9J8 Q6H9J9 Q6PG38

Alternative splicing: 2 isoforms: Q58DX5-1 Q58DX5-2

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_996898.2

ENSEMBL proteins:

ENSP00000314951

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (NAALADL2)
	Human Recombinant Proteins from Abnova (NAALADL2)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016020	membrane	IEA	--
GO:0016021	integral to membrane	IEA	--

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Antibodies for NAALADL2:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for NAALADL2
	R&D Systems Antibodies for NAALADL2 (NAALADase-like 2/NAALADL2)
	Antibodies from Abcam (NAALADL2), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (NAALADL2)
	Novus Biologicals Antibodies for NAALADL2

Assays for NAALADL2:

	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)
About This Section

ProtoNet protein and cluster: Q58DX5

UniProtKB/Swiss-Prot: NADL2_HUMAN, Q58DX5

Similarity: Belongs to the peptidase M28 family. M28B subfamily

(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 (NAALADL2)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): XM_173084

Applied Biosystems Silencer® siRNAs for NAALADL2

Sigma-Aldrich siRNA and siRNA Panels for NAALADL2

Sigma-Aldrich shRNA for NAALADL2

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for NAALADL2
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_207015
Myc/DDK tagged cDNA clone in CMV expression vector: NM_207015
untagged cDNA clones in CMV expression vector (see all 2): NM_207015

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_207015

UniProtKB/Swiss-Prot: NADL2_HUMAN, Q58DX5

Function: May be catalytically inactive

(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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2 Interacting proteins for NAALADL2 (ENSP00000314951³) via UniProtKB, MINT, and/or STRING

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FAM19A2	ENSP00000351106³	STRING (score=.704)
--	ENSP00000349476³	STRING (score=.866)

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(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)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for NAALADL2

(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 (NAALADL2)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): XM_173084

Sigma-Aldrich siRNA and siRNA Panels for NAALADL2

Sigma-Aldrich shRNA for NAALADL2

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_207015

REFSEQ mRNAs for NAALADL2 gene:

NM_207015.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_207015

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_207015
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_207015
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_207015

Additional cDNA sequence:

AJ607396.1 AJ607397.1 AK131044.1 AK308416.1 AL832144.1 AL832931.1 BC057243.1

7 DOTS entries:

DT.91671374 DT.100018865 DT.95098495 DT.101984882 DT.91822936 DT.101960522 DT.120850081

1 AceView cDNA sequence:

AJ607399

highest scoring ESTs for NAALADL2:

AI540634 AI589206 AA578476 AI783597 AL708029 BE867173 BG611802 BG743391 BX108884 AW070784

Unigene Clusters for NAALADL2:

N-acetylated alpha-linked acidic dipeptidase-like 2

Hs.565848 , Hs.603646 [show with all ESTs], Hs.660010 [show with all ESTs]

Unigene Representative Sequences: AJ607399, XM_934517, AL832144

GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:

ENST00000316366

(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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NAALADL2 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for NAALADL2

¹ / ² / ³

3 probe-sets matching NAALADL2 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
85578_at²^{, 3}	U95-D	1	1.00	1.00	0.89	1.07	AI540634	1.00	1.00	1.00	1
69987_at²^{, 3}	U95-D	1	1.00	1.00	0.92	0.94	AI589206	1.00	1.00	1.00	1
1557998_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks NAALADL2 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
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CGAP SAGE TAG: CTGCTTTACA

SOURCE GeneReport for Unigene clusters: Hs.565848 Hs.603646 Hs.660010
UniProtKB/Swiss-Prot: NADL2_HUMAN, Q58DX5
Tissue specificity: Expressed at higher level in kidney and placenta. In embryo, it is mainly
confined to duodenal and stomach endoderm, mesonephros, metanephros and pancreas

(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)
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Orthologs for NAALADL2 gene from 5/6 species (see all 6 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	NAALADL2¹	--	N-acetylated alpha-linked acidic dipeptidase-like 2	87.07(n) 82.97(a)	488174 XM_545298.2 XP_545298.2
chimpanzee (Pan troglodytes)	NAALADL2¹	--	N-acetylated alpha-linked acidic dipeptidase-like 2	99.04(n) 98.49(a)	745481 XM_001166648.1 XP_001166648.1
cow (Bos taurus)	NAALADL2¹	--	N-acetylated alpha-linked acidic dipeptidase-like 2	88.14(n) 85.19(a)	781025 XM_001249381.1 XP_001249382.1
rat (Rattus norvegicus)	Naaladl2¹	--	N-acetylated alpha-linked acidic dipeptidase-like 2	81.68(n) 78.57(a)	499583 XM_574908.2 XP_574908.2
mouse (Mus musculus)	Naaladl2^{1, 5}	3⁵	N-acetylated alpha-linked acidic dipeptidase-like 2^{1, 5}	81.72(n)¹ 77.93(a)¹	635702¹ XM_975226.2¹ XP_980320.2¹ AK012899⁵

About this table Species with no ortholog for NAALADL2

ENSEMBL Gene Tree for NAALADL2

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

Paralogs for NAALADL2 gene

TFRC² TFR2²

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

10/6100 NCBI SNPs in NAALADL2 are shown (see all 6100 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 1646)

AB	SNP ID	Valid	Chr 3 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs9823911^1,2	A,C,F,H	176297432(+)	`TAGACG/AGTGCT`	1	S/G	mis¹ ese³		8	EU EA WA	838
	rs4894688^1,2	A,C,F,H	176057886(+)	`GTTATT/CGTTTA`	1	--	ng5¹		4	EU EA WA	420
	rs7638113^1,2	A,C,F,H	177004203(+)	`TATGAA/GATGAA`	1	--	ut3¹		12	EA NA EU WA	1022
	rs2184211^1,2	A,C,F,H	177005695(-)	`AATAAC/TGAACT`	1	--	ut3¹ ese³		13	NS EU EA WA NA	728
	rs9866564^1,2	A,C,F,H	176827837(+)	`GGATCG/CCTCTT`	1	R/P	mis¹ ese³ trp³		8	EU EA WA	838
	rs4371530^1,2	A,C,F,H	176434450(+)	`TGACAC/TGGAAA`	1	M/T	mis¹ ese³		8	EU EA WA	838
	rs4894687^1,2	A,C,F,H	176057838(+)	`CTTACA/GAACTT`	1	--	ng5¹		16	EA NA EU WA	1468
	rs9843028^1,2	A,C,F,H	176058359(+)	`CAGAAA/CTTTTT`	1	--	ng5¹		11	EU EA WA NA	978
	rs7640306^1,2	A,C,F,H	177004305(+)	`CCAGGA/GGAAAA`	1	--	ut3¹		7	EU EA WA NA	510
	rs9836841^1,2	C,F,H	176297614(+)	`AAAATA/GCTTTG`	1	I/M	mis¹		8	EU EA WA	840

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HapMap Linkage Disequilibrium images for NAALADL2 (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: 608806

Human Genome Epidemiology Navigator: NAALADL2 (1 document)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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6 PubMed articles for NAALADL2 gene:

A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3. (PubMed id 15168106)^{1, 2, 3, 4} Tonkin E.T.... Strachan T. (2004)
A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease. (PubMed id 19132087)³ Burgner D....Hibberd M.L. (2009)
Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer. (PubMed id 18083107)⁴ Rikova K....Comb M.J. (2007)
The full-ORF clone resource of the German cDNA Consortium. (PubMed id 17974005)⁴ Bechtel S....Schupp I. (2007)
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)
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)

(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: 254827	HGNC: 23219	AceView: NAALADL2.1	Ensembl:ENSG00000177694	euGenes: HUgn254827
ECgene: NAALADL2	H-InvDB: NAALADL2

(According to HUGE)
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(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 NAALADL2
(Available from WIS Yeda, Salk, Tufts)

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(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 NAALADL2:

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 NAALADL2-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 NAALADL2		Antibodies for NAALADL2
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for NAALADL2		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

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NAALADL2 Gene

protein-coding GIFtS: 51

Aliases &
Descriptions
for NAALADL2

Summaries
for NAALADL2

Genomic Location
for NAALADL2

Proteins
for NAALADL2

Protein Domains/
Families
for NAALADL2

Gene Function
for NAALADL2

Pathways & Interactions
for NAALADL2

Drugs & Compounds
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Transcripts
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Expression
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Orthologs
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Paralogs
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SNPs/Variants
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Disorders & Mutations
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Medical News
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Publications
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Genome Databases showing NAALADL2

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Licensable Technologies
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Services
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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

NAALADL2 Gene

protein-coding GIFtS: 51

Aliases & Descriptionsfor NAALADL2

Summariesfor NAALADL2

Genomic Locationfor NAALADL2

Proteinsfor NAALADL2

Protein Domains/Familiesfor NAALADL2

Gene Functionfor NAALADL2

Pathways & Interactionsfor NAALADL2

Drugs & Compoundsfor NAALADL2

Transcriptsfor NAALADL2

Expression for NAALADL2

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Disorders & Mutationsfor NAALADL2

Medical Newsfor NAALADL2

Publicationsfor NAALADL2

Search for NAALADL2

Genome Databases showing NAALADL2

Other Databases showing NAALADL2

Specialized Databases showing NAALADL2

Licensable Technologiesfor NAALADL2

Servicesfor NAALADL2

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 NAALADL2

Summaries
for NAALADL2

Genomic Location
for NAALADL2

Proteins
for NAALADL2

Protein Domains/
Families
for NAALADL2

Gene Function
for NAALADL2

Pathways & Interactions
for NAALADL2

Drugs & Compounds
for NAALADL2

Transcripts
for NAALADL2

Expression
for NAALADL2

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SNPs/Variants
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