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Aliases for EPDR1 Gene

Aliases for EPDR1 Gene

  • Ependymin Related 1 2 3 5
  • Upregulated In Colorectal Cancer Gene 1 Protein 3 4
  • MERP-1 3 4
  • MERP1 3 4
  • UCC1 3 4
  • Ependymin Related Protein 1 (Zebrafish) 2
  • Mammalian Ependymin Related Protein 1 3
  • Mammalian Ependymin-Related Protein 1 3
  • Ependymin Related Protein 1 3
  • EPDR 3

External Ids for EPDR1 Gene

Previous GeneCards Identifiers for EPDR1 Gene

  • GC07P037734
  • GC07P037926

Summaries for EPDR1 Gene

Entrez Gene Summary for EPDR1 Gene

  • The protein encoded by this gene is a type II transmembrane protein that is similar to two families of cell adhesion molecules, the protocadherins and ependymins. This protein may play a role in calcium-dependent cell adhesion. This protein is glycosylated, and the orthologous mouse protein is localized to the lysosome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, Aug 2011]

GeneCards Summary for EPDR1 Gene

EPDR1 (Ependymin Related 1) is a Protein Coding gene. Diseases associated with EPDR1 include Colorectal Cancer and Long Qt Syndrome 1. Gene Ontology (GO) annotations related to this gene include calcium ion binding.

Additional gene information for EPDR1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPDR1 Gene

Genomics for EPDR1 Gene

GeneHancer (GH) Regulatory Elements for EPDR1 Gene

Promoters and enhancers for EPDR1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I037920 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 564 +237.6 237569 2.7 HDGF SIN3A ZNF48 YY1 TCF12 GLIS2 ELK1 ZNF143 KLF7 SP3 EPDR1 NME8 LOC105375236 SFRP4
GH07I037682 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 550.8 +1.3 1340 5.2 PKNOX1 RB1 BACH1 MAX BATF POLR2A NFATC1 ETV6 BCLAF1 IKZF2 GPR141 EPDR1 ENSG00000201566 ENSG00000200113 NME8 STARD3NL ELMO1 LOC100420413
GH07I037443 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 8.9 -236.9 -236940 6.2 HDGF SIN3A FEZF1 ZNF2 IRF4 ZNF48 ETS1 GLIS2 ATF7 RUNX3 ELMO1 GPR141 RNU6-565P EPDR1 TRGV3 ENSG00000201566
GH07I037915 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 12.1 +233.0 233000 2 SIN3A BMI1 BATF ZNF2 RAD21 ZNF335 GLIS2 ZNF366 ZNF143 ATF7 SFRP4 EPDR1 NME8 LOC105375236
GH07I037902 Enhancer 1 Ensembl ENCODE 15 +218.4 218433 1.3 CTCF BACH1 SIN3A ZNF644 RAD21 RARA TEAD3 GATA3 ZNF316 FOXK2 SFRP4 EPDR1 NME8 LOC105375236
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EPDR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EPDR1 gene promoter:

Genomic Locations for EPDR1 Gene

Genomic Locations for EPDR1 Gene
268,099 bases
Plus strand

Genomic View for EPDR1 Gene

Genes around EPDR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPDR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPDR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPDR1 Gene

Proteins for EPDR1 Gene

  • Protein details for EPDR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Mammalian ependymin-related protein 1
    Protein Accession:
    Secondary Accessions:
    • A8K4C0
    • C9JYS3
    • Q06BL0
    • Q99M77

    Protein attributes for EPDR1 Gene

    224 amino acids
    Molecular mass:
    25437 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAH00686.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAB60269.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for EPDR1 Gene


neXtProt entry for EPDR1 Gene

Post-translational modifications for EPDR1 Gene

  • Glycosylation at Asn130 and Asn182

Other Protein References for EPDR1 Gene

No data available for DME Specific Peptides for EPDR1 Gene

Domains & Families for EPDR1 Gene

Gene Families for EPDR1 Gene

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

Protein Domains for EPDR1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ependymin family.
  • Belongs to the ependymin family.
genes like me logo Genes that share domains with EPDR1: view

Function for EPDR1 Gene

Phenotypes From GWAS Catalog for EPDR1 Gene

Gene Ontology (GO) - Molecular Function for EPDR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with EPDR1: view
genes like me logo Genes that share phenotypes with EPDR1: view

Animal Models for EPDR1 Gene

MGI Knock Outs for EPDR1:

Animal Model Products

  • Taconic Biosciences Mouse Models for EPDR1

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPDR1 Gene

Localization for EPDR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPDR1 Gene


Subcellular locations from

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 EPDR1 gene
Compartment Confidence
extracellular 5
lysosome 2
mitochondrion 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for EPDR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA --
GO:0005764 lysosome IEA --
GO:0070062 extracellular exosome IDA,HDA 23376485
genes like me logo Genes that share ontologies with EPDR1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EPDR1 Gene

Pathways & Interactions for EPDR1 Gene

SuperPathways for EPDR1 Gene

No Data Available

Interacting Proteins for EPDR1 Gene

Gene Ontology (GO) - Biological Process for EPDR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007160 cell-matrix adhesion IEA --
genes like me logo Genes that share ontologies with EPDR1: view

No data available for Pathways by source and SIGNOR curated interactions for EPDR1 Gene

Drugs & Compounds for EPDR1 Gene

No Compound Related Data Available

Transcripts for EPDR1 Gene

Unigene Clusters for EPDR1 Gene

Ependymin related protein 1 (zebrafish):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EPDR1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d
SP1: -
SP2: -
SP4: - -

Relevant External Links for EPDR1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EPDR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EPDR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EPDR1 Gene

This gene is overexpressed in Bone marrow stromal cell (9.3), Adrenal (7.7), and Bone (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EPDR1 Gene

NURSA nuclear receptor signaling pathways regulating expression of EPDR1 Gene:


SOURCE GeneReport for Unigene cluster for EPDR1 Gene:


Evidence on tissue expression from TISSUES for EPDR1 Gene

  • Liver(4.1)
genes like me logo Genes that share expression patterns with EPDR1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EPDR1 Gene

Orthologs for EPDR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EPDR1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia EPDR1 33 34
  • 99.26 (n)
(Canis familiaris)
Mammalia EPDR1 33 34
  • 86.89 (n)
(Bos Taurus)
Mammalia EPDR1 33 34
  • 86.61 (n)
(Rattus norvegicus)
Mammalia Epdr1 33
  • 83.11 (n)
(Mus musculus)
Mammalia Epdr1 33 16 34
  • 82.36 (n)
(Monodelphis domestica)
Mammalia EPDR1 34
  • 46 (a)
(Gallus gallus)
Aves EPDR1 33 34
  • 72.36 (n)
(Anolis carolinensis)
Reptilia EPDR1 34
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia epdr1 33
  • 68.13 (n)
(Danio rerio)
Actinopterygii epdr1 33 34
  • 64 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
-- 34
  • 18 (a)
Species where no ortholog for EPDR1 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)
  • 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)
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EPDR1 Gene

Gene Tree for EPDR1 (if available)
Gene Tree for EPDR1 (if available)

Paralogs for EPDR1 Gene

(1) SIMAP similar genes for EPDR1 Gene using alignment to 3 proteins: Pseudogenes for EPDR1 Gene

genes like me logo Genes that share paralogs with EPDR1: view

No data available for Paralogs for EPDR1 Gene

Variants for EPDR1 Gene

Sequence variations from dbSNP and Humsavar for EPDR1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000140643 -- 37,941,462(+) G/A intron_variant
rs1000197473 -- 37,922,922(+) T/C intron_variant
rs1000254034 -- 37,928,929(+) T/G intron_variant
rs1000306756 -- 37,946,420(+) C/T intron_variant
rs1000401934 -- 37,935,252(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EPDR1 Gene

Variant ID Type Subtype PubMed ID
nsv8074 CNV loss 18304495

Variation tolerance for EPDR1 Gene

Residual Variation Intolerance Score: 66.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.09; 80.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPDR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPDR1 Gene

Disorders for EPDR1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for EPDR1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
colorectal cancer
  • crc
long qt syndrome 1
  • lqt1
- elite association - COSMIC cancer census association via MalaCards
Search EPDR1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EPDR1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EPDR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EPDR1 Gene

Publications for EPDR1 Gene

  1. Identification and characterization of a novel family of mammalian ependymin-related proteins (MERPs) in hematopoietic, nonhematopoietic, and malignant tissues. (PMID: 11749721) Apostolopoulos J … Kirkland MA (DNA and cell biology 2001) 2 3 4 58
  2. The novel ependymin related gene UCC1 is highly expressed in colorectal tumor cells. (PMID: 11248421) Nimmrich I … Müller O (Cancer letters 2001) 2 3 22 58
  3. Wnt signaling and Dupuytren's disease. (PMID: 21732829) Dolmans GH … BSSH-GODD Consortium (The New England journal of medicine 2011) 3 44 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Influence of multiple genetic polymorphisms on genitourinary morbidity after carbon ion radiotherapy for prostate cancer. (PMID: 18374504) Suga T … Imai T (International journal of radiation oncology, biology, physics 2008) 3 44 58

Products for EPDR1 Gene

Sources for EPDR1 Gene

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