NXPE2 Gene (Protein Coding)

Neurexophilin And PC-Esterase Domain Family Member 2

GC11P114464
GIFtS:
30
See more...

Aliases for NXPE2 Gene

Aliases for NXPE2 Gene

  • Neurexophilin And PC-Esterase Domain Family Member 2 2 3 5
  • Family With Sequence Similarity 55, Member B 2 3
  • NXPE Family Member 2 3 4
  • Protein FAM55B 3 4
  • FAM55B 3 4
  • Neurexophilin And PC-Esterase Domain Family, Member 2 2
  • FLJ25224 2
  • NXPE2 5

External Ids for NXPE2 Gene

Previous HGNC Symbols for NXPE2 Gene

  • FAM55B

Previous GeneCards Identifiers for NXPE2 Gene

  • GC11P114550
  • GC11P114678

Summaries for NXPE2 Gene

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.

Additional gene information for NXPE2 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NXPE2 Gene

Genomics for NXPE2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for NXPE2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH11J114651 Promoter 0.4 EPDnew 11.9 +187.3 187288 0.1 NFATC3 LOC105369504 lnc-NXPE4-1 piR-59928-031 NXPE4 NXPE2 MN309411 CADM1
GH11J114437 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 0.3 -24.4 -24360 4.3 ZBTB10 MXD4 SIX5 MNT IKZF1 SMAD5 ETS1 IRF2 MBD2 ZNF217 HSALNG0087308 REXO2 LOC100422382 NXPE2 ENSG00000255663
GH11J114477 Enhancer 0.8 Ensembl ENCODE 0.4 +14.1 14127 2.8 CEBPA RAD21 JUND CTCF CEBPG ATF2 NR2F6 ZNF148 SP1 CEBPB HSALNG0087316 HSALNG0087315 MK280073-093 NXPE2 NXPE1
GH11J114447 Enhancer 0.8 Ensembl ENCODE 0.4 -16.2 -16174 1.8 CEBPB GTF2E2 EP300 PRDM6 HNF4A ZBTB33 EP400 ZNF589 CEBPG ATF4 ENSG00000255663 RBM7 C11orf71 LOC100422382 HSALNG0087308 REXO2 NXPE2
GH11J114449 Enhancer 0.4 Ensembl 0.4 -14.7 -14676 0.8 HNF4A CEBPG CEBPB ATF3 ENSG00000255663 RBM7 C11orf71 LOC100422382 HSALNG0087308 NXPE2 REXO2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NXPE2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NXPE2

Genomic Locations for NXPE2 Gene

Latest Assembly
chr11:114,464,276-114,813,702
(GRCh38/hg38)
Size:
349,427 bases
Orientation:
Plus strand

Previous Assembly
chr11:114,549,249-114,577,791
(GRCh37/hg19 by Entrez Gene)
Size:
28,543 bases
Orientation:
Plus strand

chr11:114,549,108-114,579,362
(GRCh37/hg19 by Ensembl)
Size:
30,255 bases
Orientation:
Plus strand

Genomic View for NXPE2 Gene

Genes around NXPE2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NXPE2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NXPE2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for NXPE2 Gene

Proteins for NXPE2 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for NXPE2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96DL1-NXPE2_HUMAN
    Recommended name:
    NXPE family member 2
    Protein Accession:
    Q96DL1
    Secondary Accessions:
    • Q2NKI8

    Protein attributes for NXPE2 Gene

    Size:
    559 amino acids
    Molecular mass:
    64901 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 1]: and similarity to mouse ortholog.

    Alternative splice isoforms for NXPE2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NXPE2 Gene

Protein Expression for NXPE2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NXPE2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NXPE2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NXPE2 Gene

Domains & Families for NXPE2 Gene

Gene Families for NXPE2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NXPE2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NXPE2 Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM55B (FA55B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96DL1

UniProtKB/Swiss-Prot:

NXPE2_HUMAN :
  • Belongs to the NXPE family.
Family:
  • Belongs to the NXPE family.
genes like me logo Genes that share domains with NXPE2: view

Function for NXPE2 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Phenotypes From GWAS Catalog for NXPE2 Gene

Gene Ontology (GO) - Molecular Function for NXPE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24550280
genes like me logo Genes that share ontologies with NXPE2: view
genes like me logo Genes that share phenotypes with NXPE2: view

Animal Models for research

  • Taconic Biosciences Mouse Models for NXPE2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NXPE2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NXPE2 Gene

Localization for NXPE2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NXPE2 Gene

Membrane. Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NXPE2 gene
Compartment Confidence
golgi apparatus 2
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for NXPE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NXPE2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NXPE2 Gene

Pathways & Interactions for NXPE2 Gene

PathCards logo

SuperPathways for NXPE2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NXPE2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for NXPE2 Gene

Drugs & Compounds for NXPE2 Gene

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for NXPE2 Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for NXPE2 Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NXPE2

Alternative Splicing Database (ASD) splice patterns (SP) for NXPE2 Gene

No ASD Table

Relevant External Links for NXPE2 Gene

GeneLoc Exon Structure for
NXPE2

Expression for NXPE2 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NXPE2 Gene

mRNA expression in normal human tissues for NXPE2 Gene
mRNA expression by GTEx for NXPE2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NXPE2 Gene

This gene is overexpressed in Colon - Transverse (x22.4) and Minor Salivary Gland (x9.5).

Protein differential expression in normal tissues from HIPED for NXPE2 Gene

This gene is overexpressed in Blymphocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NXPE2 Gene



Protein tissue co-expression partners for NXPE2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NXPE2

SOURCE GeneReport for Unigene cluster for NXPE2 Gene:

Hs.446760

Evidence on tissue expression from TISSUES for NXPE2 Gene

  • Stomach(4.1)
genes like me logo Genes that share expression patterns with NXPE2: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NXPE2 Gene

Orthologs for NXPE2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NXPE2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia NXPE2 30 31
  • 98.93 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia NXPE2 30 31
  • 82.53 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Nxpe2 30
  • 78.04 (n)
Mouse
(Mus musculus)
 Mammalia Nxpe2 30 17 31
  • 76.89 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 68 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 55 (a)
 ManyToMany
-- 31
  • 54 (a)
 ManyToMany
-- 31
  • 52 (a)
 ManyToMany
Dog
(Canis familiaris)
 Mammalia -- 31
  • 29 (a)
 ManyToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 51 (a)
 ManyToMany
-- 31
  • 51 (a)
 ManyToMany
-- 31
  • 48 (a)
 ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100495331 30
  • 56.81 (n)
Zebrafish
(Danio rerio)
 Actinopterygii si:dkey-105h11.2 31
  • 26 (a)
 ManyToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 26 (a)
 ManyToMany
-- 31
  • 24 (a)
 ManyToMany
-- 31
  • 23 (a)
 ManyToMany
-- 31
  • 23 (a)
 ManyToMany
-- 31
  • 23 (a)
 ManyToMany
-- 31
  • 23 (a)
 ManyToMany
-- 31
  • 22 (a)
 ManyToMany
-- 31
  • 22 (a)
 ManyToMany
-- 31
  • 21 (a)
 ManyToMany
Species where no ortholog for NXPE2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for NXPE2 Gene

ENSEMBL:
Gene Tree for NXPE2 (if available)
TreeFam:
Gene Tree for NXPE2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NXPE2: view image

Paralogs for NXPE2 Gene

Paralogs for NXPE2 Gene

(3) SIMAP similar genes for NXPE2 Gene using alignment to 1 proteins:

  • NXPE2_HUMAN

Pseudogenes.org Pseudogenes for NXPE2 Gene

genes like me logo Genes that share paralogs with NXPE2: view

Variants for NXPE2 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NXPE2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs142774949 Benign: not provided 114,530,438(+) C/T
NM_152315.5(NXPE1):c.144G>A (p.Ser48=) 		SYNONYMOUS
rs77697681 Benign: not provided 114,522,397(+) G/A
NM_152315.5(NXPE1):c.789C>T (p.Phe263=) 		SYNONYMOUS
rs79538449 Benign: not provided 114,523,035(+) C/T
NM_152315.5(NXPE1):c.526G>A (p.Gly176Ser) 		MISSENSE
rs11215158 - p.Val103Ala

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NXPE2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NXPE2 Gene

Variant ID Type Subtype PubMed ID
esv3627797 CNV gain 21293372
nsv1053425 CNV loss 25217958
nsv832274 CNV gain 17160897
nsv832275 CNV gain 17160897
nsv975982 CNV duplication 23825009

Variation tolerance for NXPE2 Gene

Gene Damage Index Score: 4.73; 66.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NXPE2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NXPE2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NXPE2 Gene

Disorders for NXPE2 Gene

Additional Disease Information for NXPE2

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for NXPE2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NXPE2 Gene

Publications for NXPE2 Gene

  1. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  2. Large-scale interaction profiling of PDZ domains through proteomic peptide-phage display using human and viral phage peptidomes. (PMID: 24550280) Ivarsson Y … Kim PM (Proceedings of the National Academy of Sciences of the United States of America 2014) 3
  3. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor TD … Sakaki Y (Nature 2006) 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3

ExternalLinks

View latest publications for NXPE2 gene in Mastermind

Products for NXPE2 Gene

Sources for NXPE2 Gene