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Aliases for IZUMO2 Gene

Aliases for IZUMO2 Gene

  • IZUMO Family Member 2 2 3 5
  • C19orf41 3 4
  • SCRL 3 4
  • Chromosome 19 Open Reading Frame 41 2
  • PLAL6978 3
  • PRO21961 3

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 orofaciodigital syndrome viii. Among its related pathways are Reproduction.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IZUMO2 Gene

Genomics for IZUMO2 Gene

Genomic Location for IZUMO2 Gene

Chromosome:
19
Start:
50,152,548 bp from pter
End:
50,163,281 bp from pter
Size:
10,734 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 StructureGene Density

RefSeq DNA sequence for IZUMO2 Gene

No data available for Regulatory Elements for IZUMO2 Gene

Proteins for IZUMO2 Gene

  • 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
    Miscellaneous:
    • Izumo is the name of a Japanese shrine to marriage.
    SequenceCaution:
    • Sequence=AAQ05826.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAQ05827.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for IZUMO2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IZUMO2 Gene

Proteomics data for IZUMO2 Gene at MOPED

Post-translational modifications for IZUMO2 Gene

  • Glycosylation at Asn 91
  • Modification sites at PhosphoSitePlus

Other Protein References for IZUMO2 Gene

No data available for DME Specific Peptides for IZUMO2 Gene

Domains & Families for IZUMO2 Gene

Gene Families for IZUMO2 Gene

Protein Domains for IZUMO2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IZUMO2 Gene

GenScript: Design optimal peptide antigens:

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

Gene Ontology (GO) - Molecular Function for IZUMO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043565 sequence-specific DNA binding IBA --
GO:0044212 transcription regulatory region DNA binding IBA --
genes like me logo Genes that share ontologies with IZUMO2: view
genes like me logo Genes that share phenotypes with IZUMO2: view

Animal Model Products

miRNA for IZUMO2 Gene

miRTarBase miRNAs that target IZUMO2

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for IZUMO2 Gene COMPARTMENTS Subcellular localization image for IZUMO2 gene
Compartment Confidence
plasma membrane 3
extracellular 2
cytosol 1
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for IZUMO2 Gene

Pathways & Interactions for IZUMO2 Gene

SuperPathways for IZUMO2 Gene

Superpath Contained pathways
1 Reproduction
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

Gene Ontology (GO) - Biological Process for IZUMO2 Gene

None

No data available for SIGNOR curated interactions for IZUMO2 Gene

Drugs & Compounds for IZUMO2 Gene

No Compound Related Data Available

Transcripts for IZUMO2 Gene

mRNA/cDNA for IZUMO2 Gene

Unigene Clusters for IZUMO2 Gene

IZUMO family member 2:
Representative Sequences:

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

No ASD Table

Relevant External Links for IZUMO2 Gene

GeneLoc Exon Structure for
IZUMO2
ECgene alternative splicing isoforms for
IZUMO2

Expression for IZUMO2 Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for IZUMO2 Gene Hs.414175

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

Protein tissue co-expression partners for IZUMO2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt 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
dog
(Canis familiaris)
Mammalia IZUMO2 35
  • 81.21 (n)
  • 70 (a)
IZUMO2 36
  • 69 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia IZUMO2 35
  • 99.7 (n)
  • 99.55 (a)
IZUMO2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C18H19ORF41 36
  • 47 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Izumo2 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IZUMO2 36
  • 34 (a)
OneToOne
Species with no ortholog for IZUMO2:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for IZUMO2 Gene

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

genes like me logo Genes that share paralogs with IZUMO2: view

No data available for Paralogs for IZUMO2 Gene

Variants for IZUMO2 Gene

Sequence variations from dbSNP and Humsavar for IZUMO2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs3745498 - 50,159,230(+) CTCAC(A/G)GCAAA intron-variant, reference, missense
rs658644 -- 50,164,247(+) tcacc(C/T)gcctc upstream-variant-2KB
rs921934 -- 50,164,193(+) acggg(G/T)tttca upstream-variant-2KB
rs1290836 -- 50,154,272(-) aaaaa(A/C)aaaaa intron-variant
rs1290837 -- 50,154,247(-) tattt(G/T)gtgga intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IZUMO2 Gene

Variant ID Type Subtype PubMed ID
esv2751796 CNV Gain 17911159
nsv428369 CNV Loss 18775914
dgv3975n71 CNV Gain 21882294
nsv2526 CNV Insertion 18451855
esv2658287 CNV Deletion 23128226

Variation tolerance for IZUMO2 Gene

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

Relevant External Links for IZUMO2 Gene

HapMap Linkage Disequilibrium report
IZUMO2

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

Disorders for IZUMO2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for IZUMO2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
orofaciodigital syndrome viii
  • edwards syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for IZUMO2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IZUMO2
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. (Int J Evol Biol 2012) 2 3 67
  2. Izumo is part of a multiprotein family whose members form large complexes on mammalian sperm. (PMID: 19658160) Ellerman D.A. … Primakoff P. (Mol. Reprod. Dev. 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 H.F. … Gray A.M. (Genome Res. 2003) 3
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for IZUMO2 Gene

Sources for IZUMO2 Gene

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