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Gene Gene information from NCBI Gene database.
Entrez ID 56257
Gene name Methylphosphate capping enzyme
Gene symbol MEPCE
Synonyms (NCBI Gene)
BCDIN3
Chromosome 7
Chromosome location 7q22.1
miRNA miRNA information provided by mirtarbase database.
73 Show/Hide all (73)
miRTarBase ID miRNA Experiments Reference
MIRT025825 hsa-miR-7-5p Microarray 19073608
MIRT031627 hsa-miR-16-5p Proteomics 18668040
MIRT052367 hsa-let-7a-5p CLASH 23622248
MIRT052367 hsa-let-7a-5p CLASH 23622248
MIRT047259 hsa-miR-181b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26 Show/Hide all (26)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0001510 Process RNA methylation IDA 17643375, 19906723, 24360279, 28431135, 30559425
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IPI 30559425
GO:0005515 Function Protein binding IPI 30824372
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611478 20247 ENSG00000146834
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7L2J0
Protein name 7SK snRNA methylphosphate capping enzyme (MePCE) (EC 2.1.1.-) (Bicoid-interacting protein 3 homolog) (Bin3 homolog)
Protein function S-adenosyl-L-methionine-dependent methyltransferase that adds a methylphosphate cap at the 5'-end of 7SK snRNA (7SK RNA), leading to stabilize it (PubMed:17643375, PubMed:19906723, PubMed:30559425). Also has a non-enzymatic function as part of t
PDB 5UNA , 6DCB , 6DCC , 7SLP , 7SLQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06859 Bin3 575 → 683 Bicoid-interacting protein 3 (Bin3) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in chronic myeloid leukemia cells, adrenal gland, brain, cerebellum, kidney, lung, mammary gland and testis (PubMed:12358911). Weakly or not expressed in other tissues (PubMed:12358911). {ECO:0000269|PubMed:12358911}.
Sequence
MIEMAAEKEPFLVPAPPPPLKDESGGGGGPTVPPHQEAASGELRGGTERGPGRCAPSAGS
PAAAVGRESPGAAATSSSGPQAQQHRGGGPQAQSHGEARLSDPPGRAAPPDVGEERRGGG
GTELGPPAPPRPRNGYQPHRPPGGGGGKRRNSCNVGGGGGGFKHPAFKRRRRVNSDCDSV
LPSNFLLGGNIFDPLNLNSLLDEEVSRTLNAETPKSSPLPAKGRDPVEILIPKDITDPLS
LNTCTDEGHVVLASPLKTGRKRHRHRGQHHQQQQAAGGSESHPVPPTAPLTPLLHGEGAS
QQPRHRGQNRDAPQPYELNTAINCRDEVVSPLPSALQGPSGSLSAPPAASVISAPPSSSS
RHRKRRRTSSKSEAGARGGGQGSKEKGRGSWGGRHHHHHPLPAAGFKKQQRKFQYGNYCK
YYGYRNPSCEDGRLRVLKPEWFRGRDVLDLGCNVGHLTLSIACKWGPSRMVGLDIDSRLI
HSARQNIRHYLSEELRLPPQTLEGDPGAEGEEGTTTVRKRSCFPASLTASRGPIAAPQVP
LDGADTSVFPNNVVFVTGNYVLDRDDLVEAQTPEYDVVLCLSLTKWVHLNWGDEGLKRMF
RRIYRHLRPGGILVLEPQPWSSYGKRKTLTETIYKNYYRIQLKPEQFSSYLTSPDVGFSS
YELVATPHNTSKGFQRPVYLFHK
ARSPSH
Sequence length 689
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 Reference Evidence Score
Neurodevelopmental delay Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (8)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Aphasia Aphasia Pubtator 31467394 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 31467394 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay BEFREE 31467394
★★★★★
★☆☆☆☆
Found in Text Mining only
Hypoxia Hypoxia Pubtator 33416148 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 28592245 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Neurodevelopmental Disorders Neurodevelopmental Disorders BEFREE 31467394
★★★★★
★☆☆☆☆
Found in Text Mining only
Obesity Obesity Pubtator 23950976 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Seizures Seizures Pubtator 31467394 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only