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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NXPE2 Gene

protein-coding GIFtS: 32
GCID: GC11P114550

neurexophilin and PC-esterase domain family, member 2

(Previous names: family with sequence similarity 55, member B )
(Previous symbol: FAM55B)

Search for NXPE2
in

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
Neurexophilin And PC-Esterase Domain Family, Member 2¹ ²
FAM55B¹ ² ³
Family With Sequence Similarity 55, Member B¹ ²
Protein FAM55B² ³
FLJ25224¹
NXPE Family Member 2²

External Ids:	HGNC: 26331¹	Entrez Gene: 120406²	Ensembl: ENSG00000204361⁷	UniProtKB: Q96DL1³

Export aliases for NXPE2 gene to outside databases

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

(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_033899.8

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for NXPE2
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NXPE2

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

Entrez Gene cytogenetic band: 11q23.3 Ensembl cytogenetic band: 11q23.3 HGNC cytogenetic band: 11q23.2

NXPE2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NXPE2 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11P114550: view genomic region (about GC identifiers)

Start:	114,549,108 bp from pter	End:	114,579,362 bp from pter
Size:	30,255 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: NXPE2_HUMAN, Q96DL1 (See protein sequence)

Recommended Name: NXPE family member 2

Size: 559 amino acids; 64901 Da

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

Secondary accessions: Q2NKI8

Alternative splicing: 2 isoforms: Q96DL1-1 Q96DL1-3 (No experimental confirmation available. Gene prediction based on EST data and similarity to mouse ortholog)

Explore the universe of human proteins at neXtProt for NXPE2: NX_Q96DL1

NXPE2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_872301.2

ENSEMBL proteins:

ENSP00000374237 ENSP00000364624

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

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

NXPE2 for ontologies About GeneDecksing

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

NXPE2 for domains About GeneDecksing

2 InterPro domains/families:

IPR014756 Ig_E-set

IPR026845 NXPH/NXPE

Graphical View of Domain Structure for InterPro Entry Q96DL1

ProtoNet protein and cluster: Q96DL1

UniProtKB/Swiss-Prot: NXPE2_HUMAN, Q96DL1

Similarity: Belongs to the NXPE family

(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

Phenotypes:
1 GenomeRNAi human phenotype for NXPE2:

Synthetic lethal with Ras

1 MGI phenotypic allele

for Nxpe2 (no phenotypes)

NXPE2 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Nxpe2^tm1Lex for NXPE2

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In Situ Assay
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(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

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for NXPE2

(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

Browse Small Molecules at EMD Millipore

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(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,
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About This Section

REFSEQ mRNAs for NXPE2 gene:

NM_182495.5

Unigene Cluster for NXPE2:

Neurexophilin and PC-esterase domain family, member 2

Hs.446760 [show with all ESTs]

Unigene Representative Sequence: AK057953

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000389586(uc009yyy.2) ENST00000375475 ENST00000541074

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Additional cDNA sequence:

AK057953.1 BC111797.1

2 DOTS entries:

DT.100734047 DT.120727229

3 AceView cDNA sequences:

AK057953 BX486349 NM_182495

GeneLoc Exon Structure

(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

See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --

See NXPE2 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.446760

SABiosciences Custom PCR Arrays for NXPE2

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In Situ
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(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 chordates.

Orthologs for NXPE2 gene from 2/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	-- -- (see all 3)	--	52(a) 51(a) (see all 3)	many ↔ many many ↔ many (see all 3)	GL343722.1(253920-258851) GL343722.1(235152-242324)
African clawed frog (Xenopus laevis)	Amphibia	BQ732116.1²	--	70.75(n)		BQ732116.1

ENSEMBL Gene Tree for NXPE2 (if available)
TreeFam Gene Tree for NXPE2 (if available)

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

Paralogs for NXPE2 gene

NXPE1² NXPE4² NXPE3²

18/19 SIMAP similar genes for NXPE2 using alignment to 2 protein entries: NXPE2_HUMAN (see all proteins) (see all similar genes):

WARS APOPT1 FAM3A ZNF564 SEPT2 NRAMP1

UTY ZNF212 FAM175A NF2 TCF4 NXPE1

AURA2 GLT8D2 NXPE4 DNAPTP3 CRCP FKBP3

NXPE2 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for NXPE2
PGOHUM00000242493

(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)
About This Section

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
				--	--	--		--	--
rs58802867^1,2	C	--	114547228(+)	`GAAAAA/GAATGT`	1	--	us2k¹		4		NA WA EA	360
rs80245442^1,2	F	--	114547243(+)	`CCTCAC/TTAATC`	1	--	us2k¹		2		NA EA	240
rs187290529^1,2		--	114547249(+)	`TAATCA/GTCAGG`	1	--	us2k¹		0	--	--	--	--
rs76374238^1,2	F	--	114547494(+)	`AGGAAA/TAGAAG`	1	--	us2k¹		2		NA EA	240
rs117387985^1,2	F	--	114547598(+)	`GATGAA/GCTGAT`	1	--	us2k¹		2		NA EA	240
rs80343370^1,2	F	--	114547621(+)	`TCATAT/CATACA`	1	--	us2k¹		1		NA	120
rs78604551^1,2	C	--	114547635(+)	`AAACAG/TTTGGG`	1	--	us2k¹		0	--	--	--	--
rs79540543^1,2		--	114547688(+)	`ACAACA/GTGGGT`	1	--	us2k¹		1		NA	120
rs191633447^1,2		--	114547834(+)	`GGGTCC/TGGTCA`	1	--	us2k¹		0	--	--	--	--
rs141477690^1,2		--	114547839(+)	`TGGTCA/GGGGAG`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for NXPE2 (114549108 - 114579362 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for NXPE2: --

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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.)
About This Section

(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)
About This Section

PubMed articles for NXPE2 gene integrated from 9 sources:
(articles sorted by number of sources associating them with NXPE2)

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

Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)² Taylor T.D....Sakaki Y. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		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)
About This Section

Entrez Gene: 120406	HGNC: 26331	AceView: FLJ25224	Ensembl:ENSG00000204361	euGenes: HUgn120406
ECgene: NXPE2	H-InvDB: NXPE2

(According to HUGE)
About This Section

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

Name	Description
PharmGKB entry for NXPE2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for NXPE2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for NXPE2 gene:
Search GeneIP for patents involving NXPE2

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

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 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

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes NXPE2 gene at Home site.

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NXPE2 Gene

neurexophilin and PC-esterase domain family, member 2

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NXPE2 Gene

neurexophilin and PC-esterase domain family, member 2

Aliasesfor NXPE2 gene

Summariesfor NXPE2 gene

Genomic Viewsfor NXPE2 gene

Proteinsfor NXPE2 gene

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Expression for NXPE2 gene

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Paralogsfor NXPE2 gene

Genomic Variantsfor NXPE2 gene

Disorders / Diseasesfor NXPE2 gene

Publicationsfor NXPE2 gene

External Searches for NXPE2 gene

Genome Databases showing NXPE2 gene

Other Databases showing NXPE2 gene

Specialized Databases showing NXPE2 gene

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Productsfor NXPE2 gene

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Aliases
for NXPE2 gene

Summaries
for NXPE2 gene

Genomic Views
for NXPE2 gene

Proteins
for NXPE2 gene

Protein Domains /
Families
for NXPE2 gene

Function
for NXPE2 gene

Pathways & Interactions
for NXPE2 gene

Drugs & Compounds
for NXPE2 gene

Transcripts
for NXPE2 gene

Expression
for NXPE2 gene

Orthologs
for NXPE2 gene

Paralogs
for NXPE2 gene

Genomic Variants
for NXPE2 gene

Disorders / Diseases
for NXPE2 gene

Publications
for NXPE2 gene

Intellectual Property
for NXPE2 gene

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for NXPE2 gene