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Aliases for EDDM3A Gene

Aliases for EDDM3A Gene

  • Epididymal Protein 3A 2 3 5
  • Family With Sequence Similarity 12, Member A 2 3
  • Human Epididymis-Specific Protein 3-Alpha 3 4
  • HE3-ALPHA 3 4
  • FAM12A 3 4
  • HE3A 3 4
  • Epididymal Secretory Protein E3-Alpha 3
  • Human Epididymis-Specific 3 Alpha 3
  • Epididymis-Specific 3 Alpha 3
  • Ribonuclease A M1 3
  • HE3ALPHA 3
  • EP3A 3
  • RAM1 3

External Ids for EDDM3A Gene

Previous HGNC Symbols for EDDM3A Gene

  • FAM12A

Previous GeneCards Identifiers for EDDM3A Gene

  • GC14P021215
  • GC14P001335
  • GC14P020731

Summaries for EDDM3A Gene

Entrez Gene Summary for EDDM3A Gene

  • Testicular sperm are morphologically differentiated but are not progressively motile nor able to fertilize an egg. Post-testicular maturation requires exposure of spermatozoa to the microenvironment of the epididymal lumen. Spermatozoa undergo extensive changes in the epididymis, including enzymatic modifications, loss of pre-existing components and addition of new glycoproteins from epididymal secretions. These modifying proteins and enzymes are synthesized by epithelial cells lining the epididymal duct and secreted apically into the lumen, where they come into contact with, and may be absorbed onto, the sperm membranes. The proteins encoded by the genes in this cluster are synthesized and secreted by epididymal epithelial cells. [provided by RefSeq, Jul 2008]

GeneCards Summary for EDDM3A Gene

EDDM3A (Epididymal Protein 3A) is a Protein Coding gene. An important paralog of this gene is EDDM3B.

UniProtKB/Swiss-Prot for EDDM3A Gene

  • Possible function in sperm maturation.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EDDM3A Gene

Genomics for EDDM3A Gene

Regulatory Elements for EDDM3A Gene

Enhancers for EDDM3A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G020714 1.3 FANTOM5 Ensembl ENCODE 20.1 -30.5 -30486 2.5 CTCF NFIB FEZF1 ZEB2 ZNF394 ZIC2 OSR2 RBAK IKZF1 SCRT2 EDDM3A RNASE6 EDDM3B RNASE1 ANG ARHGEF40 PNP TEP1 TMEM55B ENSG00000258451
GH14G020705 0.9 Ensembl ENCODE 11.7 -38.8 -38761 2.6 SREBF1 CTBP1 ZNF766 RAD51 GATA2 ZHX2 FOS TEAD3 EDDM3A ANG EDDM3B RNASE1 METTL17 ZNF219 TPPP2 ENSG00000255472 RNASE13 TEP1
GH14G020855 0.9 ENCODE 11.1 +109.9 109945 0.2 PKNOX1 ARID4B SIN3A RAD21 CHAMP1 GATA2 ZNF207 ZNF143 ZNF654 MIER1 RNASE1 EDDM3A ENSG00000259130 GC14P020814
GH14G020873 0.8 ENCODE 10.2 +128.0 127965 0.2 CTCF ETV1 ZNF2 RAD21 ZBTB40 YY1 E2F1 DIDO1 GATAD1 ELK1 EDDM3A ENSG00000259130 ENSG00000258642
GH14G020711 0.7 ENCODE 11.2 -34.1 -34076 0.2 MTA2 TAL1 ETV1 E2F7 DPF2 FOXM1 TCF12 ARID1B NFIC GATA2 EDDM3A RNASE1 ANG ENSG00000258451 GC14M020723 PIR39681
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EDDM3A on UCSC Golden Path with GeneCards custom track

Genomic Location for EDDM3A Gene

Chromosome:
14
Start:
20,745,892 bp from pter
End:
20,748,380 bp from pter
Size:
2,489 bases
Orientation:
Plus strand

Genomic View for EDDM3A Gene

Genes around EDDM3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EDDM3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EDDM3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EDDM3A Gene

Proteins for EDDM3A Gene

  • Protein details for EDDM3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14507-EP3A_HUMAN
    Recommended name:
    Epididymal secretory protein E3-alpha
    Protein Accession:
    Q14507
    Secondary Accessions:
    • Q4KN33

    Protein attributes for EDDM3A Gene

    Size:
    147 amino acids
    Molecular mass:
    17646 Da
    Quaternary structure:
    No Data Available

neXtProt entry for EDDM3A Gene

Post-translational modifications for EDDM3A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EDDM3A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EDDM3A Gene

Domains & Families for EDDM3A Gene

Protein Domains for EDDM3A Gene

Suggested Antigen Peptide Sequences for EDDM3A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EDDM3A: view

No data available for Gene Families and UniProtKB/Swiss-Prot for EDDM3A Gene

Function for EDDM3A Gene

Molecular function for EDDM3A Gene

UniProtKB/Swiss-Prot Function:
Possible function in sperm maturation.
genes like me logo Genes that share phenotypes with EDDM3A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for EDDM3A Gene

Localization for EDDM3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for EDDM3A 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 EDDM3A gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for EDDM3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space TAS 7514008
genes like me logo Genes that share ontologies with EDDM3A: view

Pathways & Interactions for EDDM3A Gene

SuperPathways for EDDM3A Gene

No Data Available

Interacting Proteins for EDDM3A Gene

Selected Interacting proteins: Q14507-EP3A_HUMAN for EDDM3A Gene via IID

Gene Ontology (GO) - Biological Process for EDDM3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007321 sperm displacement TAS 7514008
genes like me logo Genes that share ontologies with EDDM3A: view

No data available for Pathways by source and SIGNOR curated interactions for EDDM3A Gene

Drugs & Compounds for EDDM3A Gene

No Compound Related Data Available

Transcripts for EDDM3A Gene

mRNA/cDNA for EDDM3A Gene

(2) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(11) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EDDM3A Gene

Epididymal protein 3A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EDDM3A Gene

No ASD Table

Relevant External Links for EDDM3A Gene

GeneLoc Exon Structure for
EDDM3A
ECgene alternative splicing isoforms for
EDDM3A

Expression for EDDM3A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EDDM3A Gene

mRNA differential expression in normal tissues according to GTEx for EDDM3A Gene

This gene is overexpressed in Testis (x29.2) and Kidney - Cortex (x12.1).

NURSA nuclear receptor signaling pathways regulating expression of EDDM3A Gene:

EDDM3A

SOURCE GeneReport for Unigene cluster for EDDM3A Gene:

Hs.304757

mRNA Expression by UniProt/SwissProt for EDDM3A Gene:

Q14507-EP3A_HUMAN
Tissue specificity: Epididymis, with predominant expression in the corpus region. Moderately expressed in the vas deferens; only low levels are detectable in the caput and cauda regions.
genes like me logo Genes that share expression patterns with EDDM3A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for EDDM3A Gene

Orthologs for EDDM3A Gene

This gene was present in the common ancestor of mammals.

Orthologs for EDDM3A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EDDM3A 34 35
  • 99.55 (n)
mouse
(Mus musculus)
Mammalia Eddm3b 35
  • 49 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 48 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 37 (a)
OneToMany
Species where no ortholog for EDDM3A 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)
  • cow (Bos Taurus)
  • 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)
  • 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 EDDM3A Gene

ENSEMBL:
Gene Tree for EDDM3A (if available)
TreeFam:
Gene Tree for EDDM3A (if available)

Paralogs for EDDM3A Gene

Paralogs for EDDM3A Gene

(1) SIMAP similar genes for EDDM3A Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for EDDM3A Gene

genes like me logo Genes that share paralogs with EDDM3A: view

Variants for EDDM3A Gene

Sequence variations from dbSNP and Humsavar for EDDM3A Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1000009175 -- 20,738,387(+) AATCG(C/T)TTGAA intron-variant
rs1000047766 -- 20,738,196(+) AGGCC(A/G)GGCAT intron-variant
rs1000450696 -- 20,743,367(+) CAACA(C/T)GGCAA intron-variant
rs1000653709 -- 20,747,417(+) TTAAT(A/G)AGAAT intron-variant
rs1000869225 -- 20,739,922(+) GAATT(C/G)CTTCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EDDM3A Gene

Variant ID Type Subtype PubMed ID
esv23438 CNV gain+loss 19812545
esv2759972 CNV gain+loss 17122850
nsv428293 CNV gain+loss 18775914

Variation tolerance for EDDM3A Gene

Residual Variation Intolerance Score: 81.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.41; 77.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EDDM3A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EDDM3A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EDDM3A Gene

Disorders for EDDM3A Gene

Relevant External Links for EDDM3A

Genetic Association Database (GAD)
EDDM3A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EDDM3A

No disorders were found for EDDM3A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EDDM3A Gene

Publications for EDDM3A Gene

  1. Major human epididymis-specific gene product, HE3, is the first representative of a novel gene family. (PMID: 7514008) Kirchhoff C. … Ivell R. (Mol. Reprod. Dev. 1994) 2 3 4 22 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Comparative genomic analysis of eutherian ribonuclease A genes. (PMID: 24337645) Premzl M. (Mol. Genet. Genomics 2014) 3 64
  4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P. … Vidal M. (Genomics 2007) 3 64
  5. 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 64

Products for EDDM3A Gene

Sources for EDDM3A Gene

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