Motilin is a 22 amino acid peptide hormone expressed throughout the gastrointestinal (GI) tract. The protein encoded by this gene is a motilin receptor which is a member of the G-protein coupled receptor 1 family. This member is a multi-pass transmembrane protein, and is an important therapeutic target for the treatment of hypomotility disorders. [provided by RefSeq, Aug 2011] See more...

Aliases for MLNR Gene

Aliases for MLNR Gene

  • Motilin Receptor 2 3 4 5
  • G Protein-Coupled Receptor 38 2 3
  • GPR38 3 4
  • MTLR1 3 4
  • G-Protein Coupled Receptor 38 4
  • MTLR 4

External Ids for MLNR Gene

Previous HGNC Symbols for MLNR Gene

  • GPR38

Previous GeneCards Identifiers for MLNR Gene

  • GC13P047593
  • GC13P048692
  • GC13P049794
  • GC13P030588

Summaries for MLNR Gene

Entrez Gene Summary for MLNR Gene

  • Motilin is a 22 amino acid peptide hormone expressed throughout the gastrointestinal (GI) tract. The protein encoded by this gene is a motilin receptor which is a member of the G-protein coupled receptor 1 family. This member is a multi-pass transmembrane protein, and is an important therapeutic target for the treatment of hypomotility disorders. [provided by RefSeq, Aug 2011]

GeneCards Summary for MLNR Gene

MLNR (Motilin Receptor) is a Protein Coding gene. Diseases associated with MLNR include Gastroparesis and Diabetic Autonomic Neuropathy. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and growth hormone-releasing hormone receptor activity. An important paralog of this gene is GHSR.

UniProtKB/Swiss-Prot Summary for MLNR Gene

Tocris Summary for MLNR Gene

  • The motilin receptor is a Gq/11-protein-coupled receptor that mediates progastrokinetic effects. It is found at its highest concentrations in the nerves of the antral wall of the stomach and is also found at significant levels throughout the smooth muscle of the upper GI tract.

Gene Wiki entry for MLNR Gene

Additional gene information for MLNR Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MLNR Gene

Genomics for MLNR Gene

GeneHancer (GH) Regulatory Elements for MLNR Gene

Promoters and enhancers for MLNR 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
GH13J049219 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 500.7 +0.1 63 1.6 POLR2G CTCF CTBP1 HDAC2 EZH2 ZNF282 TBP TFDP1 MBD1 GABPB1 MLNR FNDC3A RF00017-1426 LOC105370203
GH13J049222 Enhancer 0.3 Ensembl 500.7 +1.8 1763 0.6 EZH2 SUZ12 MLNR RF00017-1426 LOC105370203
GH13J049400 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 10.9 +180.3 180330 2.9 ZNF217 REST RFX1 CUX1 CTBP1 NCOR1 TBP JUND SPI1 GATA3 CAB39L PHF11 MLNR piR-50437-147 lnc-RCBTB1-2 lnc-RCBTB1-3
GH13J049184 Enhancer 0.7 Ensembl ENCODE 12.2 -36.7 -36737 4.8 SPI1 BATF FOS EBF1 JUN HLF NFIC IKZF1 IKZF2 RUNX3 FNDC3A MLNR COX7CP1 piR-55361-145
GH13J049298 Enhancer 0.6 Ensembl ENCODE 11.3 +79.3 79252 1.2 POLR2G TGIF2 TBP ZNF18 SOX5 SOX13 MLNR PHF11 CDADC1 lnc-CDADC1-1 RF00017-1427
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MLNR on UCSC Golden Path with GeneCards custom track

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

Top Transcription factor binding sites by QIAGEN in the MLNR gene promoter:
  • AML1a
  • Egr-2
  • FOXD3
  • GCNF-2
  • IRF-7A
  • Pax-2
  • Pax-2a
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for MLNR Gene

Genomic Locations for MLNR Gene
chr13:49,220,338-49,222,377
(GRCh38/hg38)
Size:
2,040 bases
Orientation:
Plus strand
chr13:49,794,474-49,796,513
(GRCh37/hg19)
Size:
2,040 bases
Orientation:
Plus strand

Genomic View for MLNR Gene

Genes around MLNR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MLNR Gene

Proteins for MLNR Gene

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

    Protein Symbol:
    O43193-MTLR_HUMAN
    Recommended name:
    Motilin receptor
    Protein Accession:
    O43193

    Protein attributes for MLNR Gene

    Size:
    412 amino acids
    Molecular mass:
    45344 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MLNR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MLNR Gene

Post-translational modifications for MLNR Gene

  • Glycosylation at Asn6 and Asn192
  • Modification sites at PhosphoSitePlus

Other Protein References for MLNR Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MLNR Gene

Domains & Families for MLNR Gene

Gene Families for MLNR Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • G-protein coupled receptors
  • Predicted membrane proteins

Protein Domains for MLNR Gene

Suggested Antigen Peptide Sequences for MLNR Gene

GenScript: Design optimal peptide antigens:
  • G-protein coupled receptor 38 (MTLR_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43193

UniProtKB/Swiss-Prot:

MTLR_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with MLNR: view

Function for MLNR Gene

Molecular function for MLNR Gene

UniProtKB/Swiss-Prot Function:
Receptor for motilin.

Gene Ontology (GO) - Molecular Function for MLNR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008528 G protein-coupled peptide receptor activity IPI,IEA 10381885
GO:0042562 hormone binding IPI 10381885
genes like me logo Genes that share ontologies with MLNR: view
genes like me logo Genes that share phenotypes with MLNR: view

miRNA for MLNR Gene

miRTarBase miRNAs that target MLNR

Clone Products

  • Addgene plasmids for MLNR

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MLNR Gene

Localization for MLNR Gene

Subcellular locations from UniProtKB/Swiss-Prot for MLNR Gene

Cell membrane; Multi-pass membrane protein.

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 MLNR gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MLNR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MLNR: view

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

Pathways & Interactions for MLNR Gene

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

SIGNOR curated interactions for MLNR Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for MLNR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with MLNR: view

Drugs & Compounds for MLNR Gene

(37) Drugs for MLNR Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Roxithromycin Approved, Investigational, Withdrawn Pharma Full agonist, Agonist, inhibitor 11
Erythromycin Approved, Investigational, Vet_approved Pharma Target, agonist 115
Azithromycin Approved Pharma binder 431
Mitemcinal Investigational Pharma Target, agonist 0
Camicinal Investigational Pharma 0

(4) Additional Compounds for MLNR Gene - From: IUPHAR and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ABT-229
Full agonist, Agonist

(3) Tocris Compounds for MLNR Gene

Compound Action Cas Number
ANQ 11125 Selective motilin receptor antagonist 153966-48-4
MA 2029 Potent and selective, competitive motilin receptor antagonist; orally active 287206-61-5
Motilin (human, porcine) Endogenous peptide regulator of gastrointestinal motility 52906-92-0

(4) ApexBio Compounds for MLNR Gene

Compound Action Cas Number
ANQ 11125 Motilin receptor antagonist,selective 153966-48-4
GSK962040 hydrochloride 923565-22-4
MA 2029 287206-61-5
Motilin (human, porcine) 52906-92-0
genes like me logo Genes that share compounds with MLNR: view

Drug Products

Transcripts for MLNR Gene

mRNA/cDNA for MLNR Gene

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

Clone Products

  • Addgene plasmids for MLNR

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

No ASD Table

Relevant External Links for MLNR Gene

GeneLoc Exon Structure for
MLNR

Expression for MLNR Gene

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

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

This gene is overexpressed in Stomach (x15.2).

Protein differential expression in normal tissues from HIPED for MLNR Gene

This gene is overexpressed in Monocytes (51.4) and Stomach (17.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MLNR Gene



Protein tissue co-expression partners for MLNR Gene

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

SOURCE GeneReport for Unigene cluster for MLNR Gene:

Hs.248126

mRNA Expression by UniProt/SwissProt for MLNR Gene:

O43193-MTLR_HUMAN
Tissue specificity: Expressed only in thyroid, stomach, and bone marrow.

Evidence on tissue expression from TISSUES for MLNR Gene

  • Stomach(4.4)
  • Intestine(2.1)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with MLNR: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for MLNR Gene

Orthologs for MLNR Gene

This gene was present in the common ancestor of animals.

Orthologs for MLNR Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MLNR 31 30
  • 86.73 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MLNR 30
  • 84.88 (n)
MTLR 31
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MLNR 31
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Trhr2 31
  • 24 (a)
ManyToMany
chicken
(Gallus gallus)
Aves MLNR 31 30
  • 73.31 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MLNR 31
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mlnr 30
  • 57.82 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100536406 30
  • 57.88 (n)
MLNR 31
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta capaR 31
  • 23 (a)
ManyToMany
Pk1r 31
  • 23 (a)
ManyToMany
CG8795 31
  • 18 (a)
ManyToMany
CG8784 31
  • 15 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea nmur-1 31
  • 23 (a)
ManyToMany
nmur-2 31
  • 23 (a)
ManyToMany
nmur-4 31
  • 23 (a)
ManyToMany
nmur-3 31
  • 20 (a)
ManyToMany
Species where no ortholog for MLNR 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • wheat (Triticum aestivum)

Evolution for MLNR Gene

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

Paralogs for MLNR Gene

(4) SIMAP similar genes for MLNR Gene using alignment to 1 proteins:

  • MTLR_HUMAN
genes like me logo Genes that share paralogs with MLNR: view

Variants for MLNR Gene

Additional dbSNP identifiers (rs#s) for MLNR Gene

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

Variant ID Type Subtype PubMed ID
nsv832607 CNV loss 17160897

Variation tolerance for MLNR Gene

Residual Variation Intolerance Score: 68.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.94; 36.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MLNR Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MLNR Gene

Disorders for MLNR Gene

MalaCards: The human disease database

(13) MalaCards diseases for MLNR Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
gastroparesis
  • gastric atonia
diabetic autonomic neuropathy
  • diabetic neuropathies
colonic pseudo-obstruction
  • primary chronic pseudo-obstruction of colon
lung occult small cell carcinoma
  • occult small cell carcinoma of lung
functional colonic disease
  • colonic diseases, functional
- elite association - COSMIC cancer census association via MalaCards
Search MLNR in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MLNR

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 MLNR: view

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

Publications for MLNR Gene

  1. Growth hormone secretagogue receptor family members and ligands. (PMID: 11322507) Smith RG … Howard A (Endocrine 2001) 3 4 23 54
  2. Receptor for motilin identified in the human gastrointestinal system. (PMID: 10381885) Feighner SD … Howard AD (Science (New York, N.Y.) 1999) 3 4 23 54
  3. Cloning and characterization of two human G protein-coupled receptor genes (GPR38 and GPR39) related to the growth hormone secretagogue and neurotensin receptors. (PMID: 9441746) McKee KK … Van der Ploeg LH (Genomics 1997) 2 3 4 54
  4. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PMID: 20424473) Yokoyama K … Hosoya T (Nephron. Clinical practice 2010) 3 41 54
  5. Desensitization and internalization of the human motilin receptor is independent of the C-terminal tail. (PMID: 18420306) Mitselos A … Depoortere I (Peptides 2008) 3 23 54

Products for MLNR Gene

Sources for MLNR Gene