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NXPE2 Gene

protein-coding   GIFtS: 31
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
at  

(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
Neurexophilin And PC-Esterase Domain Family, Member 21 2
FAM55B1 2 3
Family With Sequence Similarity 55, Member B1 2
Protein FAM55B2 3
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for NXPE2 Gene:
NXPE2 (neurexophilin and PC-esterase domain family, member 2) is a protein-coding gene. An important paralog of this gene is NXPE1.


(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:
NC_000011.10  NT_033899.9  NC_018922.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for NXPE2
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for NXPE2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NXPE2_HUMAN, Q96DL1 (See protein sequence)
Recommended Name: NXPE family member 2  
Size: 559 amino acids; 64901 Da
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

Explore proteomics data for NXPE2 at MOPED


See NXPE2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_872301.2  
ENSEMBL proteins: 
 ENSP00000374237   ENSP00000364624  

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


NXPE2 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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:
     MGI mouse knock-out Nxpe2tm1Lex for NXPE2

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(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 UniProtKB/Swiss-Prot
NXPE2_HUMAN, Q96DL1: Membrane; Single-pass membrane protein (Potential)

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral component of membrane IEA--

NXPE2 for ontologies           About GeneDecksing


(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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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NXPE2
Interactions:

    Search GeneGlobe Interaction Network for NXPE2

(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 NXPE2



(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, Primers from OriGene, and/or QIAGEN )
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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
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000389586(uc009yyy.2) ENST00000375475
miRNA
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Additional mRNA sequence: 

AK057953.1 BC111797.1 

2 DOTS entries:

DT.100734047  DT.120727229 

3 AceView cDNA sequences:

NM_182495 BX486349 AK057953 

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™, 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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NXPE2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
NXPE2 Expression
About this image


NXPE2 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 3) fully expand
 
 Blood (Hematopoietic System)
         Proerythroblasts Hematopoietic Bone Marrow
 
 Lung (Respiratory System)
 
 Liver (Hepatobiliary System)
NXPE2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

NXPE2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.446760
    Custom PCR Arrays for NXPE2
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NXPE2

(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 chordates.

Orthologs for NXPE2 gene from Selected species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Nxpe21 , 5 family with sequence similarity 55, member B5
neurexophilin and PC-esterase domain family, member more1
76.89(n)1
69.34(a)1
  9 (26.38 cM)5
782521  NM_030069.31  NP_084345.21 
 483180065 
lizard
(Anolis carolinensis)
Reptilia --
--
(see all 3)
Uncharacterized protein
(see all 3)
51(a)
51(a)
(see all 3)
many ↔ many
many ↔ many
(see all 3)
GL343722.1(235152-242324)
GL343722.1(253920-261876)
African clawed frog
(Xenopus laevis)
Amphibia BQ732116.12   -- 70.75(n)    BQ732116.1 
zebrafish
(Danio rerio)
Actinopterygii si:dkey-105h11.26
si:dkey-105h11.2
26(a)
many ↔ many
24(5872961-5881803) ENSDARG00000092898


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)
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Paralogs for NXPE2 gene
NXPE12  NXPE42  NXPE32  
3 SIMAP similar genes for NXPE2 using alignment to 1 protein entry:     NXPE2_HUMAN:
NXPE1    NXPE4    NXPE3

NXPE2 for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for NXPE2
PGOHUM00000242493


(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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Selected SNPs for NXPE2 (see all 614)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 11 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs588028671,2
C--114547228(+) GAAAAA/GAATGT 1 -- us2k14Minor allele frequency- G:0.21NA WA EA 360
rs802454421,2
C,F--114547243(+) CCTCAC/TTAATC 1 -- us2k12Minor allele frequency- T:0.10NA EA 240
rs1872905291,2
--114547249(+) TAATCA/GTCAGG 1 -- us2k10--------
rs763742381,2
C,F--114547494(+) AGGAAA/TAGAAG 1 -- us2k12Minor allele frequency- T:0.09NA EA 240
rs1173879851,2
C,F--114547598(+) GATGAA/GCTGAT 1 -- us2k12Minor allele frequency- G:0.09NA EA 240
rs803433701,2
F--114547621(+) TCATAT/CATACA 1 -- us2k11Minor allele frequency- C:0.03NA 120
rs786045511,2
C--114547635(+) AAACAG/TTTGGG 1 -- us2k10--------
rs795405431,2
F--114547688(+) ACAACA/GTGGGT 1 -- us2k11Minor allele frequency- G:0.01NA 120
rs1916334471,2
--114547834(+) GGGTCC/TGGTCA 1 -- us2k10--------
rs1414776901,2
C--114547839(+) TGGTCA/GGGGAG 1 -- us2k10--------

HapMap Linkage Disequilibrium report for NXPE2 (114549108 - 114579362 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for NXPE2: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing NXPE2
DNA2.0 Custom Variant and Variant Library Synthesis for NXPE2

(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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  --

(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 NXPE2 gene integrated from 10 sources:
(articles sorted by number of sources associating them with NXPE2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (Nature 2006)
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
  3. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
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: 120406 HGNC: 26331 AceView: FLJ25224 Ensembl:ENSG00000204361 euGenes: HUgn120406
ECgene: NXPE2 H-InvDB: NXPE2

(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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NameDescription
PharmGKB entry for NXPE2 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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