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SPANXN2 Gene

protein-coding   GIFtS: 35
GCID: GC0XM142795

SPANX Family, Member N2

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(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
SPANX Family, Member N21 2     CT11.72
Nuclear-Associated Protein SPAN-Xn22 3     Cancer/Testis Antigen Family 11, Member 72
SPANX-N22 3     Sperm Protein Associated With The Nucleus On The X Chromosome N22
Cancer/Testis Antigen Family 111     SPANX Family Member N23
Member 71     

External Ids:    HGNC: 331751   Entrez Gene: 4941192   Ensembl: ENSG000002039247   OMIM: 3006655   UniProtKB: Q5MJ103   

Export aliases for SPANXN2 gene to outside databases

Previous GC identifers: GC0XM142623 GC0XM131909


(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 SPANXN2 Gene:
SPANXN2 (SPANX family, member N2) is a protein-coding gene. An important paralog of this gene is SPANXN1.


(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_000023.10  NC_018934.2  NT_011786.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPANXN2 gene promoter:
         SRF   RFX1   FOXF2   AML1a   SRF (504 AA)   POU3F2   HNF-3beta   Gfi-1   FAC1   FOXO4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPANXN2 promoter sequence
   Search Chromatin IP Primers for SPANXN2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPANXN2


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

Entrez Gene cytogenetic band: Xq27.3   Ensembl cytogenetic band:  Xq27.3   HGNC cytogenetic band: Xq27.3

SPANXN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPANXN2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM142795:  view genomic region     (about GC identifiers)

Start:
142,795,055 bp from pter      End:
142,804,516 bp from pter
Size:
9,462 bases      Orientation:
minus 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: SPXN2_HUMAN, Q5MJ10 (See protein sequence)
Recommended Name: Sperm protein associated with the nucleus on the X chromosome N2  
Size: 180 amino acids; 19917 Da
Secondary accessions: Q0ZNM2

Explore the universe of human proteins at neXtProt for SPANXN2: NX_Q5MJ10

Explore proteomics data for SPANXN2 at MOPED


See SPANXN2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001009615.1  
ENSEMBL proteins: 
 ENSP00000359529  

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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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1 InterPro protein domain:
 IPR010007 SPANX_prot

Graphical View of Domain Structure for InterPro Entry Q5MJ10

ProtoNet protein and cluster: Q5MJ10

UniProtKB/Swiss-Prot: SPXN2_HUMAN, Q5MJ10
Similarity: Belongs to the SPAN-X family


Find genes that share domains with SPANXN2           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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Animal Models:
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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 COMPARTMENTS: 

CompartmentConfidence
nucleus3
cytosol2
extracellular1

(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 SPANXN2
Interactions:

    Search GeneGlobe Interaction Network for SPANXN2

(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 Tocris compounds for SPANXN2 (SPXN2)



(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 SPANXN2 gene: 
NM_001009615.1  

Unigene Cluster for SPANXN2:

SPANX family, member N2
Hs.535083  [show with all ESTs]
Unigene Representative Sequence: NM_001009615
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000370498(uc004fbz.3)
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1 DOTS entry:

DT.91834751 

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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SPANXN2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
SPANXN2 Expression
About this image

SPANXN2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

SPANXN2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.535083
    Custom PCR Arrays for SPANXN2
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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)
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This gene was present in the common ancestor of human and chimp.

Orthologs for SPANXN2 gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia SPANXN21 SPANX-N2 97.6(n)
96.4(a)
  732488  NM_001042629.1  NP_001036094.1 


ENSEMBL Gene Tree for SPANXN2 (if available)
TreeFam Gene Tree for SPANXN2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for SPANXN2 gene
SPANXN12  SPANXN52  SPANXN32  SPANXN42  
12 SIMAP similar genes for SPANXN2 using alignment to 1 protein entry:     SPXN2_HUMAN:
SPANXN3    SPANXN1    SPANXN5    SPANXN4    SPANXC    SPANXA1
SPANXA2    SPANXE    SPANXD    SPANXB1    SPANXB2    SPANXF1

Find genes that share paralogs with SPANXN2           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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Selected SNPs for SPANXN2 (see all 273)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr X posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1906937471,2
--142794599(+) GCCTCA/GCATGT 1 -- ds50010--------
rs1832797041,2
C--142794695(+) ACAGGC/GTGGTC 1 -- ds50010--------
rs1434245831,2
--142794788(+) ATACAA/GATCTT 1 -- ds50010--------
rs1480086531,2
C--142794921(+) TACAAC/TGTCTG 1 -- ds50010--------
rs1400121581,2
F--142795133(+) TGTTTG/TACTAG 1 -- ut311Minor allele frequency- T:0.00NA 4552
rs2018473471,2
--142795190(+) CGTCCA/TCCTGT 2 E V mis10--------
rs1511189151,2
C--142795209(+) TTCAGA/GTGGGT 2 P S mis10--------
rs1426651731,2
C--142795212(+) AGGTGA/GGTCCA 2 P S mis10--------
rs1874320871,2
--142795216(+) GGGTCA/CAGGTC 2 L syn10--------
rs38598981,2
C,F,A,H--142795225(-) GAGGAT/CGAAGA 2 /D syn1 ese312Minor allele frequency- C:0.41NS EA NA WA CSA 4969

HapMap Linkage Disequilibrium report for SPANXN2 (142795055 - 142804516 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for SPANXN2:    About this table    
Variant IDTypeSubtypePubMed ID
dgv1403e199CNV Deletion23128226
esv2740547CNV Deletion23290073

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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: 300665    OMIM disorders: --


Find genes that share disorders with SPANXN2           About GenesLikeMe


Export disorders for SPANXN2 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 SPANXN2 gene integrated from 10 sources:
(articles sorted by number of sources associating them with SPANXN2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The SPANX gene family of cancer/testis-specific antigens: rapid evolution and amplification in African great apes and hominids. (PubMed id 14973187)1, 2, 3 Kouprina N.... Larionov V. (Proc. Natl. Acad. Sci. U.S.A. 2004)
  2. Hominoid-specific SPANXA/D genes demonstrate differential expression in individuals and protein localization to a distinct nuclear envelope domain during spermatid morphogenesis. (PubMed id 17012309)1, 3 Westbrook V.A....Herr J.C. (Mol. Hum. Reprod. 2006)
  3. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (Nature 2005)
  4. Dynamic structure of the SPANX gene cluster mapped to the prostate cancer susceptibility locus HPCX at Xq27. (PubMed id 16251457)2 Kouprina N.... Larionov V. (Genome Res. 2005)

(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: 494119 HGNC: 33175 Ensembl:ENSG00000203924 euGenes: HUgn494119 ECgene: SPANXN2
H-InvDB: SPANXN2

(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 SPANXN2 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 SPANXN2 gene:
Search GeneIP for patents involving SPANXN2

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



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