Gene Gene information from NCBI Gene database.
Entrez ID 54749
Gene name Ependymin related 1
Gene symbol EPDR1
Synonyms (NCBI Gene)
EPDRMERP-1MERP1UCC1
Chromosome 7
Chromosome location 7p14.1
Summary 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 glycosylate
miRNA miRNA information provided by mirtarbase database.
283
miRTarBase ID miRNA Experiments Reference
MIRT016452 hsa-miR-193b-3p Microarray 20304954
MIRT022804 hsa-miR-124-3p Microarray 18668037
MIRT024408 hsa-miR-215-5p Microarray 19074876
MIRT026718 hsa-miR-192-5p Microarray 19074876
MIRT040027 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005543 Function Phospholipid binding IPI 30729188
GO:0005576 Component Extracellular region IDA 30729188
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619734 17572 ENSG00000086289
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UM22
Protein name Mammalian ependymin-related protein 1 (MERP-1) (Upregulated in colorectal cancer gene 1 protein)
Protein function Binds anionic lipids and gangliosides at acidic pH.
PDB 6E7O , 6E8N , 6JLD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00811 Ependymin 87 210 Ependymin Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Detected in brain, heart, skeletal muscle, kidney, testis, ovary and prostate. {ECO:0000269|PubMed:11749721}.
Sequence
MPGRAPLRTVPGALGAWLLGGLWAWTLCGLCSLGAVGAPRPCQAPQQWEGRQVMYQQSSG
RNSRALLSYDGLNQRVRVLDERKALIPCKRLFEYILLYKDGVMFQIDQATKQCSKMTLTQ
PWDPLDIPQNSTFEDQYSIGGPQEQITVQEWSDRKSARSYETWIGIYTVKDCYPVQETFT
INYSVILSTRFFDIQLGIKDPSVFTPPSTC
QMAQLEKMSEDCSW
Sequence length 224
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANGLE CLOSURE GLAUCOMA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLAUCOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLAUCOMA, ANGLE-CLOSURE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer`s Disease Alzheimer disease GWASDB_DG 24162737
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 24162737, 30617256
★☆☆☆☆
Found in Text Mining only
Angle Closure Glaucoma Angle Closure Glaucoma CTD_human_DG 27064256
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Angle Closure Glaucoma Angle Closure Glaucoma BEFREE 31377279
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 38308220 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 32935479 Associate
★☆☆☆☆
Found in Text Mining only
Ciliary Motility Disorders Ciliary dyskinesia CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Cleft Lip Cleft lip Pubtator 34024335 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 30360391
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 32111877 Associate
★☆☆☆☆
Found in Text Mining only