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 motilin-associated peptide (MAP). Three transcript variants encoding different preproprotein isoforms but the same mature pepti... See more...

Aliases for MLN Gene

Aliases for MLN Gene

  • Motilin 2 3 5
  • Prepromotilin 2 3
  • Promotilin 3 4

External Ids for MLN Gene

Previous GeneCards Identifiers for MLN Gene

  • GC06M033764
  • GC06M033809
  • GC06M033870
  • GC06M033504
  • GC06M033762

Summaries for MLN Gene

Entrez Gene Summary for MLN Gene

  • 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 motilin-associated peptide (MAP). Three transcript variants encoding different preproprotein isoforms but the same mature peptide have been found for this gene. [provided by RefSeq, May 2010]

GeneCards Summary for MLN Gene

MLN (Motilin) is a Protein Coding gene. Diseases associated with MLN include Gastroparesis and Paralytic Ileus. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and hormone activity.

UniProtKB/Swiss-Prot Summary for MLN Gene

  • Plays an important role in the regulation of interdigestive gastrointestinal motility and indirectly causes rhythmic contraction of duodenal and colonic smooth muscle.

Additional gene information for MLN Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MLN Gene

Genomics for MLN Gene

GeneHancer (GH) Regulatory Elements for MLN Gene

Promoters and enhancers for MLN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J033802 Enhancer 0.3 Ensembl 500.7 +1.5 1515 1 GLIS1 SPI1 MLN lnc-MLN-2 LEMD2 BAK1 IP6K3 ENSG00000287089 LOC105375024
GH06J033803 Promoter 0.3 EPDnew 500.7 0.0 -7 0.1 MLN lnc-MLN-2
GH06J033805 Enhancer 0.2 Ensembl 500.7 -0.6 -585 0.4 MLN lnc-MLN-2 BAK1 piR-40163-093
GH06J033804 Enhancer 0.2 dbSUPER 500.7 -1.8 -1834 2.1 MLN lnc-MLN-2 LEMD2 IP6K3 BAK1 piR-40163-093
GH06J034143 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.9 -340.9 -340858 2.4 EP300 CTCF ZFX ZIC2 ZNF423 GABPA ZBTB26 REST CHD1 HDAC2 GRM4 LEMD2 RING1 HCG25 MLN ENSG00000272217 PACSIN1 RF00017-5443 RF00017-5442
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MLN on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MLN

Top Transcription factor binding sites by QIAGEN in the MLN gene promoter:
  • aMEF-2
  • MEF-2A
  • NRSF form 1
  • NRSF form 2

Genomic Locations for MLN Gene

Genomic Locations for MLN Gene
chr6:33,794,672-33,804,016
(GRCh38/hg38)
Size:
9,345 bases
Orientation:
Minus strand
chr6:33,762,449-33,771,793
(GRCh37/hg19)
Size:
9,345 bases
Orientation:
Minus strand

Genomic View for MLN Gene

Genes around MLN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MLN Gene

Proteins for MLN Gene

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

    Protein Symbol:
    P12872-MOTI_HUMAN
    Recommended name:
    Promotilin
    Protein Accession:
    P12872
    Secondary Accessions:
    • B7ZLR7
    • E9PDN2
    • J3KN51
    • Q2M1L2
    • Q5T975
    • Q6NSY7

    Protein attributes for MLN Gene

    Size:
    115 amino acids
    Molecular mass:
    12920 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MLN Gene

    Alternative splice isoforms for MLN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MLN Gene

Post-translational modifications for MLN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MLN Gene

Protein Products

  • Signalway Proteins for MLN

No data available for DME Specific Peptides for MLN Gene

Domains & Families for MLN Gene

Gene Families for MLN Gene

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

Protein Domains for MLN Gene

Blocks:
  • Motilin/ghrelin
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MLN Gene

GenScript: Design optimal peptide antigens:
  • Promotilin (MOTI_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P12872

UniProtKB/Swiss-Prot:

MOTI_HUMAN :
  • Belongs to the motilin family.
Family:
  • Belongs to the motilin family.
genes like me logo Genes that share domains with MLN: view

Function for MLN Gene

Molecular function for MLN Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in the regulation of interdigestive gastrointestinal motility and indirectly causes rhythmic contraction of duodenal and colonic smooth muscle.
GENATLAS Biochemistry:
motilin,regulator of gastrointestinal motility,secreted by enterochromaffin cells of the duodenum and small intestine,also expressed in brain and bronchi. Affects gastric motility by stimulating interdigestive antrum and duodenal contractions

Phenotypes From GWAS Catalog for MLN Gene

Gene Ontology (GO) - Molecular Function for MLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 hormone activity IEA --
GO:0031788 motilin receptor binding IPI 10381885
genes like me logo Genes that share ontologies with MLN: view
genes like me logo Genes that share phenotypes with MLN: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MLN Gene

Localization for MLN Gene

Subcellular locations from UniProtKB/Swiss-Prot for MLN Gene

Secreted.

Subcellular locations from

COMPARTMENTS
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 MLN gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
genes like me logo Genes that share ontologies with MLN: view

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

Pathways & Interactions for MLN Gene

genes like me logo Genes that share pathways with MLN: view

SIGNOR curated interactions for MLN Gene

Activates:

Gene Ontology (GO) - Biological Process for MLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G protein-coupled receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with MLN: view

Drugs & Compounds for MLN Gene

(44) Drugs for MLN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for MLN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MLN: view

Transcripts for MLN Gene

mRNA/cDNA for MLN Gene

3 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

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

No ASD Table

Relevant External Links for MLN Gene

GeneLoc Exon Structure for
MLN

Expression for MLN Gene

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

mRNA differential expression in normal tissues according to GTEx for MLN Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x40.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MLN

SOURCE GeneReport for Unigene cluster for MLN Gene:

Hs.2813

Evidence on tissue expression from TISSUES for MLN Gene

  • Nervous system(4.4)
  • Intestine(3.9)
  • Stomach(3)
  • Gall bladder(2.6)
  • Blood(2.5)
  • Muscle(2)
genes like me logo Genes that share expression patterns with MLN: view

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

Orthologs for MLN Gene

This gene was present in the common ancestor of chordates.

Orthologs for MLN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MLN 31 30
  • 98.55 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MLN 31 30
  • 84.71 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MLN 31 30
  • 83.5 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MLN 31
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MLN 31
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves MLN 31
  • 46 (a)
OneToOne
Species where no ortholog for MLN 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for MLN Gene

ENSEMBL:
Gene Tree for MLN (if available)
TreeFam:
Gene Tree for MLN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MLN: view image

Paralogs for MLN Gene

No data available for Paralogs for MLN Gene

Variants for MLN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MLN Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs2281820 - p.Val15Ala

Additional dbSNP identifiers (rs#s) for MLN Gene

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

Variant ID Type Subtype PubMed ID
dgv10610n54 CNV loss 21841781
esv3608630 CNV gain 21293372
nsv509128 CNV insertion 20534489

Variation tolerance for MLN Gene

Residual Variation Intolerance Score: 67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.02; 20.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MLN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MLN

SNP Genotyping and Copy Number Assay Products

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

Disorders for MLN Gene

MalaCards: The human disease database

(40) MalaCards diseases for MLN Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
gastroparesis
  • gastric atonia
paralytic ileus
duodenogastric reflux
ileus
  • ileus of intestine
gastroesophageal reflux
  • ger
- elite association - COSMIC cancer census association via MalaCards
Search MLN in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MLN

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

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

Publications for MLN Gene

  1. Absence of motilin gene mutations in infantile hypertrophic pyloric stenosis. (PMID: 18358279) Svenningsson A … Nordenskjöld A (Journal of pediatric surgery 2008) 3 23 41 54
  2. The motilin gene: subregional localisation, tissue expression, DNA polymorphisms and exclusion as a candidate gene for the HLA-associated immotile cilia syndrome. (PMID: 7989042) Gasparini P … Zelante L (Human genetics 1994) 3 23 41 54
  3. Genome-wide association analysis of age-at-onset in Alzheimer's disease. (PMID: 22005931) Kamboh MI … Lopez OL (Molecular psychiatry 2012) 3 41 54
  4. Covariation of plasma ghrelin and motilin in irritable bowel syndrome. (PMID: 20338210) Sjölund K … Wierup N (Peptides 2010) 3 23 54
  5. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PMID: 19851445) Barcellos LF … Criswell LA (PLoS genetics 2009) 3 41 54

Products for MLN Gene

Sources for MLN Gene