Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54749
Gene name Gene Name - the full gene name approved by the HGNC.
Ependymin related 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EPDR1
Synonyms (NCBI Gene) Gene synonyms aliases
EPDR, MERP-1, MERP1, UCC1
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p14.1
Summary Summary of gene provided in NCBI Entrez 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 glycosylate
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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:0005764 Component Lysosome IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
619734 17572 ENSG00000086289
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
24162737, 30617256
Ciliary dyskinesia Ciliary Motility Disorders rs397515339, rs267607225, rs267607226, rs786205052, rs267607227, rs118204041, rs118204042, rs118204043, rs137853191, rs121434369, rs397515565, rs397515358, rs137852998, rs397515363, rs79833450
View all (813 more)
Pyle metaphyseal dysplasia Pyle metaphyseal dysplasia rs879255603, rs755007671, rs879253778
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 38308220
Carcinoma Hepatocellular Associate 32935479
Cleft Lip Associate 34024335
Colorectal Neoplasms Associate 32111877
Coronary Artery Disease Associate 32710445
Diabetes Mellitus Type 2 Stimulate 36343918
Dupuytren Contracture Associate 21732829
Dysautonomia Familial Stimulate 22252855
Hypoxia Associate 38308220
Hypoxia Brain Associate 38308220