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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IZUMO3 Gene

protein-coding   GIFtS: 26
GCID: GC09M024542

IZUMO family member 3

(Previous name: chromosome 9 open reading frame 134 )
(Previous symbol: C9orf134)
  Search for IZUMO3
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Biological research products
for IZUMO3    

Aliases
for IZUMO3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
IZUMO Family Member 31 2
C9orf1341 2 3
BA20A20.11
Chromosome 9 Open Reading Frame 1341
Izumo Sperm-Egg Fusion Protein 32

External Ids:    HGNC: 314211   Entrez Gene: 1001296692   Ensembl: ENSG000002054427   UniProtKB: Q5VZ723   

Export aliases for IZUMO3 gene to outside databases

Previous GC identifer: GC09U901496


Summaries
for IZUMO3 gene

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

Genomic Views
for IZUMO3 gene

(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_000009.11  NT_008413.18  NC_018920.1  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for IZUMO3
         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 IZUMO3


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

Entrez Gene cytogenetic band: 9p21.3   Ensembl cytogenetic band:  9p21.3   HGNC cytogenetic band: 9p21.3

IZUMO3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IZUMO3 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M024542:  view genomic region     (about GC identifiers)

Start:
 24,542,958 bp from pter      End:
 24,545,944 bp from pter
Size:
 2,987 bases      Orientation:
 minus strand

Proteins
for IZUMO3 gene

(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: IZUM3_HUMAN, Q5VZ72 (See protein sequence)
Recommended Name: Izumo sperm-egg fusion protein 3 precursor  
Size: 239 amino acids; 27768 Da
Subunit: Monomer and homodimer (By similarity)
Subcellular location: Cell membrane; Single-pass type I membrane protein (Potential)
Miscellaneous: Izumo is the name of a Japanese shrine to marriage
Sequence caution: Sequence=CAH71315.1; Type=Erroneous gene model prediction;

Explore the universe of human proteins at neXtProt for IZUMO3: NX_Q5VZ72

IZUMO3 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_001258635.1  
ENSEMBL proteins: 
 ENSP00000403299   ENSP00000391107   ENSP00000438895  

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Uscn Proteins for IZUMO3

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005886plasma membrane IEA--
GO:0016021integral to membrane IEA--


IZUMO3 for ontologies           About GeneDecksing



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Protein Domains /
Families
for IZUMO3 gene

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

ProtoNet protein and cluster: Q5VZ72

UniProtKB/Swiss-Prot: IZUM3_HUMAN, Q5VZ72
Similarity: Belongs to the Izumo family


Function
for IZUMO3 gene

(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section
miRNA
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In Situ Assay
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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0042803protein homodimerization activity ISS--


IZUMO3 for ontologies           About GeneDecksing



Pathways & Interactions
for IZUMO3 gene

(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 CentralTM Interacting Genes and Proteins Networks for IZUMO3

Drugs & Compounds
for IZUMO3 gene

(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
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Browse Tocris compounds for IZUMO3
Search CenterWatch for drugs/clinical trials and news about IZUMO3 / IZUM3 

Transcripts
for IZUMO3 gene

(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,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section
REFSEQ mRNAs for IZUMO3 gene: 
NM_001271706.1  

Unigene Cluster for IZUMO3:

IZUMO family member 3
Hs.573530  [show with all ESTs]
Unigene Representative Sequence: NM_001271706
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000412335 ENST00000418122 ENST00000543880

miRNA
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Clone
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1 DOTS entry:

DT.121160713 

GeneLoc Exon Structure


Expression
for IZUMO3 gene

(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

IZUMO3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)
About this image

IZUMO3 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
1 LifeMap In Vivo Development Anatomical Compartment/Cell 
Tissue Anatomical Compartment CellCategory (developmental path)
TestisSeminiferous TubulesSpermatidGerm Cells, Male Gametocytes
Expression: Positive    Negative     Selective marker
Experimental details: Curated     Microarrays     In-situ hybridization

See IZUMO3 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.573530
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In Situ
Assay Products: 
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Orthologs
for IZUMO3 gene

(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 human and mouse.

Orthologs for IZUMO3 gene from 1/4 species (see all 4)    About this table
Organism Taxonomic
classification		 Gene Description Human
Similarity		 Orthology
Type		 Details
mouse
(Mus musculus)		 Mammalia Izumo35 IZUMO family member 3   --   4 (43.16 cM) 92144329 


ENSEMBL Gene Tree for IZUMO3 (if available)
TreeFam Gene Tree for IZUMO3 (if available) 

Paralogs
for IZUMO3 gene

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

Genomic Variants
for IZUMO3 gene

(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

10/128 NCBI SNPs in IZUMO3 are shown (see all 128)     About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance		Chr 9 posSequence#AA
Chg		TypeMore#Allele
freq		PopTotal
sample		More
----------
rs799838361,2
C,--24491375(+) AAAAAA/GCAGCC 1 -- ds50013Minor allele frequency- G:0.06CSA WA NA 240
rs736522811,2
C,F,--24491473(+) CCTGTG/ACATTG 1 -- ds50013Minor allele frequency- A:0.09WA CSA 122
rs169084821,2
C,F,H,--24491524(+) TATTTG/CCTCTC 1 -- ds50019Minor allele frequency- C:0.04NA NS EA CSA WA 674
rs799043541,2
C,--24491530(+) CTCTCC/TCATTA 1 -- ds50013Minor allele frequency- T:0.05CSA WA NA 240
rs777634561,2
--24491679(+) ATCATG/CAAAGA 1 -- ds50011Minor allele frequency- C:0.01WA 118
rs109663351,2
C,F,H,--24491801(+) ACCTTC/TGTATT 2 Q R mis1 ese311Minor allele frequency- T:0.01NS EA NA 1336
rs108120571,2
A,H--24491959(+) CTGGAT/AACTTC 1 -- int14Minor allele frequency- A:0.00NS EA 420
rs13298471,2
C,A,H--24492030(+) TCCCAG/AAATTT 1 -- int15Minor allele frequency- A:0.00NS EA NA 422
rs108120581,2
A,H--24492073(+) AGGAAG/AAGGGA 1 -- int1 trp34Minor allele frequency- A:0.00NS EA 416
rs750822951,2
C,F,--24492121(+) AGTGTT/CTATTT 1 -- int11Minor allele frequency- C:0.03WA 118

HapMap Linkage Disequilibrium report for IZUMO3 (24542958 - 24545944 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for IZUMO3: --

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Disorders / Diseases
for IZUMO3 gene

(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
   --

Publications
for IZUMO3 gene

(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 IZUMO3 gene integrated from 9 sources:
(articles sorted by number of sources associating them with IZUMO3)		    Utopia: connect your pdf to the dynamic
world of online information

  1. Positive Selection and the Evolution of izumo Genes in Mammals. (PubMed id 22957301)1, 3 Grayson P. and Civetta A. (2012)
  2. Izumo is part of a multiprotein family whose members form large complexes on mammalian sperm. (PubMed id 19658160)1, 3 Ellerman D.A....Primakoff P. (2009)
  3. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)

External Searches for IZUMO3 gene

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  
  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

Genome Databases showing IZUMO3 gene

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 100129669 HGNC: 31421 Ensembl:ENSG00000205442 euGenes: HUgn100129669 ECgene: IZUMO3
H-InvDB: IZUMO3

Other Databases showing IZUMO3 gene

(According to HUGE)
About This Section
   --

Specialized Databases showing IZUMO3 gene

(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
NameDescription
PharmGKB entry for IZUMO3 Pharmacogenomics, SNPs, Pathways

Intellectual Property
for IZUMO3 gene

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for IZUMO3 gene:
Search GeneIP for patents involving IZUMO3

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



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