MLN (motilin)

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Gene Gene information from NCBI Gene database.
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Entrez ID 4295
Gene name Motilin
Gene symbol MLN
Synonyms (NCBI Gene)
-
Chromosome 6
Chromosome location 6p21.31
Summary This gene encodes a small peptide hormone that is secreted by cells of the small intestine to regulate gastrointestinal contractions and motility. Proteolytic processing of the secreted protein produces the mature peptide and a byproduct referred to as mo
miRNA miRNA information provided by mirtarbase database.
19 Show/Hide all (19)
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miRTarBase ID miRNA Experiments Reference
MIRT018464 hsa-miR-335-5p Microarray 18185580
MIRT661928 hsa-miR-4779 HITS-CLIP 23824327
MIRT661927 hsa-miR-4762-5p HITS-CLIP 23824327
MIRT661926 hsa-miR-186-3p HITS-CLIP 23824327
MIRT661925 hsa-miR-150-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0005179 Function Hormone activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
GO:0007165 Process Signal transduction IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
158270 7141 ENSG00000096395
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P12872
Protein name Promotilin [Cleaved into: Motilin; Motilin-associated peptide (MAP)]
Protein function Plays an important role in the regulation of interdigestive gastrointestinal motility and indirectly causes rhythmic contraction of duodenal and colonic smooth muscle.
PDB 1LBJ , 8IBV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04643 Motilin_assoc 61 → 115 Motilin/ghrelin-associated peptide Family
PF04644 Motilin_ghrelin 27 → 53 Motilin/ghrelin Family
Sequence 
MVSRKAVAALLVVHVAAMLASQTEAFVPIFTYGELQRMQEKERNKGQKKSLSVWQRSGEE
GPVDPAEPIREEENEMIKLTAPLEIGMRMNSRQLEKYPATLEGLLSEMLPQHAAK
Sequence length 115
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway Reactome Pathway
Neuroactive ligand-receptor interaction Peptide ligand-binding receptors
Hormone signaling G alpha (q) signalling events
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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.
Show/Hide Unknown Diseases (13)
Phenotype Name Clinical Significance Source Reference Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 34446935
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE — GWAS catalog 35915156
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE — GWAS catalog 23850713
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESSENTIAL TREMOR — GWAS catalog 27797806
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER — GWAS catalog 34594039
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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MLNR 3 shared pathwaysHormone signaling, Peptide ligand-binding receptors, G alpha (q) signalling events Related via 3 shared pathways including Hormone signaling, Peptide ligand-binding receptors. TRH 3 shared pathwaysHormone signaling, Peptide ligand-binding receptors, G alpha (q) signalling events Related via 3 shared pathways including Hormone signaling, Peptide ligand-binding receptors. PMCH 3 shared pathwaysHormone signaling, Peptide ligand-binding receptors, G alpha (q) signalling events Related via 3 shared pathways including Hormone signaling, Peptide ligand-binding receptors. TRHR 3 shared pathwaysHormone signaling, Peptide ligand-binding receptors, G alpha (q) signalling events Related via 3 shared pathways including Hormone signaling, Peptide ligand-binding receptors. MCHR2 3 shared pathwaysHormone signaling, Peptide ligand-binding receptors, G alpha (q) signalling events Related via 3 shared pathways including Hormone signaling, Peptide ligand-binding receptors.
Diabetes mellitus type 2 Linked via 2 of 5 related genesMLNR, TRHR Major depressive disorder Linked via 2 of 5 related genesTRH, PMCH Hypertension Linked via 2 of 5 related genesTRH, TRHR Bipolar disorder Linked via 2 of 5 related genesPMCH, MCHR2 Schizophrenia Linked via 2 of 5 related genesTRHR, MCHR2