IZUMO2 Gene (Protein Coding)

IZUMO Family Member 2

GC19M050152
GIFtS:
31
See more...

Aliases for IZUMO2 Gene

Aliases for IZUMO2 Gene

  • IZUMO Family Member 2 2 3 5
  • SCRL 2 3 4
  • Izumo Sperm-Egg Fusion Protein 2 3 4
  • C19orf41 3 4
  • Chromosome 19 Open Reading Frame 41 2
  • PLAL6978 3
  • PRO21961 3
  • MGC33947 2
  • IZUMO2 5

External Ids for IZUMO2 Gene

Previous HGNC Symbols for IZUMO2 Gene

  • C19orf41

Previous GeneCards Identifiers for IZUMO2 Gene

  • GC19M050656
  • GC19M046995

Summaries for IZUMO2 Gene

GeneCards Summary for IZUMO2 Gene

IZUMO2 (IZUMO Family Member 2) is a Protein Coding gene. Diseases associated with IZUMO2 include Chronic Closed-Angle Glaucoma and Sveinsson Chorioretinal Atrophy. Among its related pathways are Reproduction.

Additional gene information for IZUMO2 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 IZUMO2 Gene

Genomics for IZUMO2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for IZUMO2 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
GH19J050163 Promoter 1.4 EPDnew Ensembl CraniofacialAtlas 256 +0.3 308 0.5 POLR2A BHLHE40 TAF1 L3MBTL2 CREM CREB1 ATF1 CTCF USF1 IZUMO2 HSALNG0127079 piR-57134-061 VRK3
GH19J050264 Enhancer 0.8 FANTOM5 1.8 -101.3 -101312 0.1 IKZF1 NFIC REST RAD51 CTCF TAL1 ATF1 RAD21 TCF12 NFYC HSALNG0127081 KLK12 IZUMO2 HSALNG0127082 NR1H2 MYH14
GH19J050167 Enhancer 1 Ensembl ENCODE dbSUPER 0.7 -4.2 -4220 0.6 ZIC2 SP2 KLF16 PKNOX1 ZBTB33 NFIB GLIS1 SP7 ZFP69B MEIS2 IZUMO2 HSALNG0127080 lnc-IZUMO2-1 MYH14
GH19J050147 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 0.4 +15.2 15244 1.7 ZNF654 IKZF1 SIX5 ZNF592 ZBTB10 YY1 REST ETS1 TRIM22 MBD2 ENSG00000287001 LOC105372436 VRK3 ZNF473 MYH14 hsa-miR-5095-281 IZUMO2
GH19J050172 Enhancer 1.1 Ensembl ENCODE dbSUPER 0.4 -9.9 -9943 1.9 IKZF1 ZNF580 ZNF223 REST CEBPB IRF2 EP300 MBD2 ZNF623 RFX5 IZUMO2 HSALNG0127080 lnc-IZUMO2-1 MYH14
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IZUMO2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IZUMO2

Genomic Locations for IZUMO2 Gene

Latest Assembly
chr19:50,152,548-50,163,281
(GRCh38/hg38)
Size:
10,734 bases
Orientation:
Minus strand

Previous Assembly
chr19:50,655,805-50,666,538
(GRCh37/hg19 by Entrez Gene)
Size:
10,734 bases
Orientation:
Minus strand

chr19:50,655,805-50,666,452
(GRCh37/hg19 by Ensembl)
Size:
10,648 bases
Orientation:
Minus strand

Genomic View for IZUMO2 Gene

Genes around IZUMO2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IZUMO2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IZUMO2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for IZUMO2 Gene

Proteins for IZUMO2 Gene

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  • Protein details for IZUMO2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UXV1-IZUM2_HUMAN
    Recommended name:
    Izumo sperm-egg fusion protein 2
    Protein Accession:
    Q6UXV1
    Secondary Accessions:
    • Q5GRG3
    • Q5GRG4
    • Q6ZNM5
    • Q8NHR8

    Protein attributes for IZUMO2 Gene

    Size:
    221 amino acids
    Molecular mass:
    24856 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ05826.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAQ05827.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
    Miscellaneous:
    • Izumo is the name of a Japanese shrine to marriage.

    Alternative splice isoforms for IZUMO2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IZUMO2 Gene

Protein Expression for IZUMO2 Gene

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

Post-translational modifications for IZUMO2 Gene

  • Glycosylation at Asn91
  • Modification sites at PhosphoSitePlus

Other Protein References for IZUMO2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for IZUMO2 Gene

Domains & Families for IZUMO2 Gene

Gene Families for IZUMO2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for IZUMO2 Gene

InterPro:

Suggested Antigen Peptide Sequences for IZUMO2 Gene

GenScript: Design optimal peptide antigens:
  • Izumo sperm-egg fusion protein 2 (IZUM2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6UXV1

UniProtKB/Swiss-Prot:

IZUM2_HUMAN :
  • Belongs to the Izumo family.
Family:
  • Belongs to the Izumo family.
genes like me logo Genes that share domains with IZUMO2: view

Function for IZUMO2 Gene

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  4. Inhibitory RNAs for research
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  6. Cell Lines for research
genes like me logo Genes that share phenotypes with IZUMO2: view

Animal Models for research

miRNA for IZUMO2 Gene

miRTarBase miRNAs that target IZUMO2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IZUMO2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for IZUMO2 Gene

Localization for IZUMO2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IZUMO2 Gene

Membrane. Single-pass type I 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 IZUMO2 gene
Compartment Confidence
plasma membrane 2
extracellular 2
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 0

Gene Ontology (GO) - Cellular Components for IZUMO2 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 IZUMO2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IZUMO2 Gene

Pathways & Interactions for IZUMO2 Gene

PathCards logo

SuperPathways for IZUMO2 Gene

SuperPathway Contained pathways
1 Reproduction
Fertilization
1.00
Reproduction
1.00
Sperm-Oocyte Membrane Binding
.01
genes like me logo Genes that share pathways with IZUMO2: view

Pathways by source for IZUMO2 Gene

3 Reactome pathways for IZUMO2 Gene

Interacting Proteins for IZUMO2 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000293405 Q6UXV1-IZUM2_HUMAN for IZUMO2 Gene via STRING IID

GPS-Prot Interaction Network for IZUMO2

Gene Ontology (GO) - Biological Process for IZUMO2 Gene

None

No data available for SIGNOR curated interactions for IZUMO2 Gene

Drugs & Compounds for IZUMO2 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for IZUMO2 Gene

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  2. miRNA products for research
  3. Inhibitory RNAs for research
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mRNA/cDNA for IZUMO2 Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
4 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 IZUMO2

Alternative Splicing Database (ASD) splice patterns (SP) for IZUMO2 Gene

No ASD Table

Relevant External Links for IZUMO2 Gene

GeneLoc Exon Structure for
IZUMO2

Expression for IZUMO2 Gene

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  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IZUMO2 Gene

mRNA expression in normal human tissues for IZUMO2 Gene
mRNA expression by BioGPS for IZUMO2 GenemRNA expression by GTEx for IZUMO2 Gene

mRNA differential expression in normal tissues according to GTEx for IZUMO2 Gene

This gene is overexpressed in Testis (x51.0).

Protein differential expression in normal tissues from HIPED for IZUMO2 Gene

This gene is overexpressed in Stomach (67.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IZUMO2 Gene



Protein tissue co-expression partners for IZUMO2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IZUMO2

SOURCE GeneReport for Unigene cluster for IZUMO2 Gene:

Hs.414175
genes like me logo Genes that share expression patterns with IZUMO2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for IZUMO2 Gene

Orthologs for IZUMO2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IZUMO2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia IZUMO2 29 30
  • 99.7 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia IZUMO2 29 30
  • 81.21 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Izumo2 30
  • 60 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia C18H19ORF41 30
  • 47 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia IZUMO2 30
  • 34 (a)
 OneToOne
Species where no ortholog for IZUMO2 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for IZUMO2 Gene

ENSEMBL:
Gene Tree for IZUMO2 (if available)
TreeFam:
Gene Tree for IZUMO2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IZUMO2: view image
Alliance of Genome Resources:
Additional Orthologs for IZUMO2

Paralogs for IZUMO2 Gene

(3) SIMAP similar genes for IZUMO2 Gene using alignment to 4 proteins:

  • IZUM2_HUMAN
  • M0QXA9_HUMAN
  • M0QZG1_HUMAN
  • M0R2L8_HUMAN
genes like me logo Genes that share paralogs with IZUMO2: view

No data available for Paralogs for IZUMO2 Gene

Variants for IZUMO2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IZUMO2 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs3745498 -- p.Arg139Cys

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for IZUMO2 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 IZUMO2 Gene

Variant ID Type Subtype PubMed ID
esv2658287 CNV deletion 23128226
esv2751796 CNV gain 17911159
nsv1133010 OTHER inversion 24896259
nsv1140251 OTHER inversion 24896259
nsv1152956 OTHER inversion 26484159
nsv2526 CNV insertion 18451855
nsv428369 CNV loss 18775914

Variation tolerance for IZUMO2 Gene

Residual Variation Intolerance Score: 64.6% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IZUMO2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IZUMO2
Leiden Open Variation Database (LOVD)
IZUMO2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IZUMO2 Gene

Disorders for IZUMO2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for IZUMO2 Gene - From: COP

Disorder Aliases PubMed IDs
chronic closed-angle glaucoma
  • anatomical narrow angle glaucoma
sveinsson chorioretinal atrophy
  • scra
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for IZUMO2

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with IZUMO2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IZUMO2 Gene

Publications for IZUMO2 Gene

  1. Positive Selection and the Evolution of izumo Genes in Mammals. (PMID: 22957301) Grayson P … Civetta A (International journal of evolutionary biology 2012) 2 3
  2. Izumo is part of a multiprotein family whose members form large complexes on mammalian sperm. (PMID: 19658160) Ellerman DA … Primakoff P (Molecular reproduction and development 2009) 2 3
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4
  4. Systematic identification of pathological lamin A interactors. (PMID: 24623722) Dittmer TA … Misteli T (Molecular biology of the cell 2014) 3
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4

ExternalLinks

View latest publications for IZUMO2 gene in Mastermind

Products for IZUMO2 Gene

Sources for IZUMO2 Gene