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Aliases for IZUMO4 Gene

Aliases for IZUMO4 Gene

  • IZUMO Family Member 4 2 3 5
  • Sperm 22 KDa Protein C113 3 4
  • C19orf36 3 4
  • Putative SAMP14 Binding Protein Variant 1 3
  • Putative SAMP14 Binding Protein Variant 2 3
  • Chromosome 19 Open Reading Frame 36 2
  • Izumo Sperm-Egg Fusion Protein 4 3
  • IMAGE:4215339 3

External Ids for IZUMO4 Gene

Previous HGNC Symbols for IZUMO4 Gene

  • C19orf36

Previous GeneCards Identifiers for IZUMO4 Gene

  • GC19P002085
  • GC19P001869

Summaries for IZUMO4 Gene

GeneCards Summary for IZUMO4 Gene

IZUMO4 (IZUMO Family Member 4) is a Protein Coding gene. Among its related pathways are Reproduction.

Additional gene information for IZUMO4 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IZUMO4 Gene

Genomics for IZUMO4 Gene

GeneHancer (GH) Regulatory Elements for IZUMO4 Gene

Promoters and enhancers for IZUMO4 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
GH19I002079 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 558.4 -7.6 -7576 18.9 MLX DMAP1 YBX1 IRF4 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC MOB3A IZUMO4 SF3A2 ZNF77 BTBD2 CIRBP LOC100288123 TCF3 DAZAP1 MKNK2
GH19I002160 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 7.7 +71.3 71311 13.7 CLOCK MLX FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 E2F8 DOT1L CIRBP ZNF77 AP3D1 GADD45B LOC100288123 TCF3 DAZAP1 SF3A2 ENSG00000267317
GH19I002149 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 6.5 +54.3 54310 3.7 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 AP3D1 DAZAP1 SF3A2 ZNF77 CIRBP AMH PLEKHJ1 IZUMO4 DOT1L GC19P002134
GH19I002184 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 6.5 +90.8 90773 5 HDGF FEZF1 HIC1 FOS RUNX3 IKZF2 EGR2 SMARCA5 ZNF687 NR2F2 SF3A2 AMH TCF3 MIR1227 LOC100288123 DAZAP1 ZNF77 CIRBP SPPL2B ENSG00000267283
GH19I002181 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 6.7 +85.8 85751 2.4 HDGF SMAD1 EBF1 BATF KLF5 IRF4 FOXK2 POLR2A ZNF143 ATF7 PLEKHJ1 IZUMO4 AP3D1 KLF16 GC19M002178 DOT1L ENSG00000267122
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around IZUMO4 on UCSC Golden Path with GeneCards custom track

Genomic Locations for IZUMO4 Gene

Genomic Locations for IZUMO4 Gene
chr19:2,096,429-2,099,593
(GRCh38/hg38)
Size:
3,165 bases
Orientation:
Plus strand
chr19:2,096,380-2,099,592
(GRCh37/hg19)

Genomic View for IZUMO4 Gene

Genes around IZUMO4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IZUMO4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IZUMO4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IZUMO4 Gene

Proteins for IZUMO4 Gene

  • Protein details for IZUMO4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q1ZYL8-IZUM4_HUMAN
    Recommended name:
    Izumo sperm-egg fusion protein 4
    Protein Accession:
    Q1ZYL8
    Secondary Accessions:
    • A7RA93
    • A7RA94
    • Q6UXA2
    • Q96FT6
    • Q96L02

    Protein attributes for IZUMO4 Gene

    Size:
    232 amino acids
    Molecular mass:
    26510 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Izumo is the name of a Japanese shrine to marriage.
    SequenceCaution:
    • Sequence=AAH10443.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for IZUMO4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IZUMO4 Gene

Post-translational modifications for IZUMO4 Gene

  • Glycosylation at isoforms=2, 3, 424 and isoforms=2219

No data available for DME Specific Peptides for IZUMO4 Gene

Domains & Families for IZUMO4 Gene

Gene Families for IZUMO4 Gene

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

Protein Domains for IZUMO4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IZUMO4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q1ZYL8

UniProtKB/Swiss-Prot:

IZUM4_HUMAN :
  • Belongs to the Izumo family.
Family:
  • Belongs to the Izumo family.
genes like me logo Genes that share domains with IZUMO4: view

Function for IZUMO4 Gene

Phenotypes From GWAS Catalog for IZUMO4 Gene

Phenotypes for IZUMO4 Gene

genes like me logo Genes that share phenotypes with IZUMO4: view

Animal Model Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for IZUMO4 Gene

Localization for IZUMO4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IZUMO4 Gene

Secreted.

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 IZUMO4 gene
Compartment Confidence
extracellular 5
nucleus 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IZUMO4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005634 nucleus HDA,IDA 21630459
genes like me logo Genes that share ontologies with IZUMO4: view

Pathways & Interactions for IZUMO4 Gene

SuperPathways for IZUMO4 Gene

SuperPathway Contained pathways
1 Reproduction
genes like me logo Genes that share pathways with IZUMO4: view

Pathways by source for IZUMO4 Gene

3 Reactome pathways for IZUMO4 Gene

Interacting Proteins for IZUMO4 Gene

Gene Ontology (GO) - Biological Process for IZUMO4 Gene

None

No data available for SIGNOR curated interactions for IZUMO4 Gene

Drugs & Compounds for IZUMO4 Gene

No Compound Related Data Available

Transcripts for IZUMO4 Gene

Unigene Clusters for IZUMO4 Gene

IZUMO family member 4:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for IZUMO4 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c
SP1:
SP2: -
SP3: -
SP4: -
SP5: -

Relevant External Links for IZUMO4 Gene

GeneLoc Exon Structure for
IZUMO4
ECgene alternative splicing isoforms for
IZUMO4

Expression for IZUMO4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IZUMO4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IZUMO4 Gene

This gene is overexpressed in Testis (x24.5).

Protein differential expression in normal tissues from HIPED for IZUMO4 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for IZUMO4 Gene



Protein tissue co-expression partners for IZUMO4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IZUMO4 Gene:

IZUMO4

SOURCE GeneReport for Unigene cluster for IZUMO4 Gene:

Hs.424049

mRNA Expression by UniProt/SwissProt for IZUMO4 Gene:

Q1ZYL8-IZUM4_HUMAN
Tissue specificity: Detected in sperm.

Evidence on tissue expression from TISSUES for IZUMO4 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with IZUMO4: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for IZUMO4 Gene

Orthologs for IZUMO4 Gene

This gene was present in the common ancestor of mammals.

Orthologs for IZUMO4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IZUMO4 33 34
  • 98.99 (n)
dog
(Canis familiaris)
Mammalia IZUMO4 33 34
  • 87 (n)
cow
(Bos Taurus)
Mammalia IZUMO4 33 34
  • 86.58 (n)
rat
(Rattus norvegicus)
Mammalia Izumo4 33
  • 83.26 (n)
mouse
(Mus musculus)
Mammalia Izumo4 33 16 34
  • 82.64 (n)
Species where no ortholog for IZUMO4 was found in the sources mined by GeneCards:
  • 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)
  • lizard (Anolis carolinensis)
  • 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)
  • 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 IZUMO4 Gene

ENSEMBL:
Gene Tree for IZUMO4 (if available)
TreeFam:
Gene Tree for IZUMO4 (if available)

Paralogs for IZUMO4 Gene

(1) SIMAP similar genes for IZUMO4 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with IZUMO4: view

No data available for Paralogs for IZUMO4 Gene

Variants for IZUMO4 Gene

Sequence variations from dbSNP and Humsavar for IZUMO4 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000975361 -- 2,097,184(+) A/C intron_variant
rs1001980324 -- 2,096,280(+) G/T upstream_transcript_variant
rs1002488507 -- 2,095,234(+) A/C upstream_transcript_variant
rs1002752915 -- 2,098,903(+) G/A intron_variant
rs1002980328 -- 2,095,299(+) A/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for IZUMO4 Gene

Variant ID Type Subtype PubMed ID
esv3583205 CNV loss 25503493
esv3893156 CNV loss 25118596
nsv470107 CNV loss 18288195

Variation tolerance for IZUMO4 Gene

Residual Variation Intolerance Score: 76.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.24; 40.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IZUMO4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IZUMO4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IZUMO4 Gene

Disorders for IZUMO4 Gene

Additional Disease Information for IZUMO4

No disorders were found for IZUMO4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for IZUMO4 Gene

Publications for IZUMO4 Gene

  1. 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) 2 3 4 58
  2. Positive Selection and the Evolution of izumo Genes in Mammals. (PMID: 22957301) Grayson P … Civetta A (International journal of evolutionary biology 2012) 2 3 58
  3. 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 58
  4. 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) 3 4 58
  5. Proteomic characterization of the human sperm nucleus. (PMID: 21630459) de Mateo S … Oliva R (Proteomics 2011) 3 58

Products for IZUMO4 Gene

Sources for IZUMO4 Gene

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