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Aliases for MTPN Gene

Aliases for MTPN Gene

  • Myotrophin 2 3 3 5
  • Granule Cell Differentiation Protein 2 3
  • Protein V-1 3 4
  • GCDP 3
  • V-1 3

External Ids for MTPN Gene

Previous GeneCards Identifiers for MTPN Gene

  • GC07U990334
  • GC07M133953
  • GC07M135013
  • GC07M135027
  • GC07M135068
  • GC07M135262
  • GC07M135613

Summaries for MTPN Gene

Entrez Gene Summary for MTPN Gene

  • The transcript produced from this gene is bi-cistronic and can encode both myotrophin and leucine zipper protein 6. The myotrophin protein is associated with cardiac hypertrophy, where it is involved in the conversion of NFkappa B p50-p65 heterodimers to p50-p50 and p65-p65 homodimers. This protein also has a potential function in cerebellar morphogenesis, and it may be involved in the differentiation of cerebellar neurons, particularly of granule cells. A cryptic ORF at the 3' end of this transcript uses a novel internal ribosome entry site and a non-AUG translation initiation codon to produce leucine zipper protein 6, a 6.4 kDa tumor antigen that is associated with myeloproliferative disease. [provided by RefSeq, Jul 2008]

GeneCards Summary for MTPN Gene

MTPN (Myotrophin) is a Protein Coding gene. Diseases associated with MTPN include Muscle Hypertrophy and Dilated Cardiomyopathy.

UniProtKB/Swiss-Prot for MTPN Gene

  • Promotes dimerization of NF-kappa-B subunits and regulates NF-kappa-B transcription factor activity (By similarity). Plays a role in the regulation of the growth of actin filaments. Inhibits the activity of the F-actin-capping protein complex formed by the CAPZA1 and CAPZB heterodimer. Promotes growth of cardiomyocytes, but not cardiomyocyte proliferation. Promotes cardiac muscle hypertrophy.

Gene Wiki entry for MTPN Gene

Additional gene information for MTPN Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTPN Gene

Genomics for MTPN Gene

GeneHancer (GH) Regulatory Elements for MTPN Gene

Promoters and enhancers for MTPN 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
GH07J135970 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 658.4 +3.1 3061 7.6 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B MTPN NUP205 LUZP6 RNU6-223P
GH07J135978 Enhancer 0.9 ENCODE dbSUPER 656.7 -1.3 -1287 0.2 HDAC1 MEIS2 PKNOX1 CEBPG CTBP1 SCRT2 ATF7 SMARCE1 SCRT1 L3MBTL2 MTPN LUZP6 LOC105375523
GH07J135927 Promoter 0.5 EPDnew 650.2 +50.2 50198 0.1 GC07M135928 ENSG00000224746 MTPN RNU6-223P LUZP6
GH07J135942 Enhancer 1.1 ENCODE dbSUPER 19.6 +34.2 34233 2 ATF1 PKNOX1 ARNT IRF4 NCOA2 TCF12 ATF7 RUNX3 KDM4B JUNB MTPN NUP205 GC07M135928 RNU6-223P LUZP6
GH07J135938 Enhancer 0.9 dbSUPER 19.9 +37.4 37430 3.7 ATF1 PKNOX1 ARNT TCF12 GATA2 ZFP91 ATF7 CAVIN1 NCOA1 ZNF592 MTPN NUP205 GC07M135928 RNU6-223P LUZP6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTPN on UCSC Golden Path with GeneCards custom track

Genomic Locations for MTPN Gene

Genomic Locations for MTPN Gene
chr7:135,926,755-135,977,456
(GRCh38/hg38)
Size:
50,702 bases
Orientation:
Minus strand
chr7:135,611,503-135,662,204
(GRCh37/hg19)
Size:
50,702 bases
Orientation:
Minus strand

Genomic View for MTPN Gene

Genes around MTPN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MTPN Gene

Proteins for MTPN Gene

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

    Protein Symbol:
    P58546-MTPN_HUMAN
    Recommended name:
    Myotrophin
    Protein Accession:
    P58546

    Protein attributes for MTPN Gene

    Size:
    118 amino acids
    Molecular mass:
    12895 Da
    Quaternary structure:
    • Interacts with RELA (By similarity). Interacts with the heterodimer formed by CAPZA1 and CAPZB.
    Miscellaneous:
    • This protein is produced by a bicistronic gene which also produces the MPD6 protein from a non-overlapping reading frame. MPD6 belongs to a group of cryptic antigens without conventional genomic structure. It is encoded by a cryptic open reading frame located in the 3-untranslated region of MTPN.

    Three dimensional structures from OCA and Proteopedia for MTPN Gene

neXtProt entry for MTPN Gene

Post-translational modifications for MTPN Gene

  • Ubiquitination at Lys11 and Lys4
  • Modification sites at PhosphoSitePlus

Other Protein References for MTPN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MTPN Gene

Domains & Families for MTPN Gene

Gene Families for MTPN Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for MTPN Gene

Suggested Antigen Peptide Sequences for MTPN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P58546

UniProtKB/Swiss-Prot:

MTPN_HUMAN :
  • Belongs to the myotrophin family.
Family:
  • Belongs to the myotrophin family.
genes like me logo Genes that share domains with MTPN: view

Function for MTPN Gene

Molecular function for MTPN Gene

UniProtKB/Swiss-Prot Function:
Promotes dimerization of NF-kappa-B subunits and regulates NF-kappa-B transcription factor activity (By similarity). Plays a role in the regulation of the growth of actin filaments. Inhibits the activity of the F-actin-capping protein complex formed by the CAPZA1 and CAPZB heterodimer. Promotes growth of cardiomyocytes, but not cardiomyocyte proliferation. Promotes cardiac muscle hypertrophy.
UniProtKB/Swiss-Prot Induction:
Up-regulated in heart left ventricle of patients with severe coronary artery disease and history of myocardial ischemia. Up-regulated in heart left ventricle of patients with dilated cardiomyopathy.

Phenotypes From GWAS Catalog for MTPN Gene

Gene Ontology (GO) - Molecular Function for MTPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with MTPN: view
genes like me logo Genes that share phenotypes with MTPN: view

Animal Model Products

CRISPR Products

miRNA for MTPN Gene

miRTarBase miRNAs that target MTPN

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTPN

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

Localization for MTPN Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTPN Gene

Cytoplasm. Nucleus. Cytoplasm, perinuclear region.

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 MTPN gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 2
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MTPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol ISS,IEA --
GO:0008290 F-actin capping protein complex IDA 16895918
GO:0030424 axon IEA --
genes like me logo Genes that share ontologies with MTPN: view

Pathways & Interactions for MTPN Gene

No Data Available

Gene Ontology (GO) - Biological Process for MTPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006417 regulation of translation NAS 12031792
GO:0006584 catecholamine metabolic process IEA --
GO:0008361 regulation of cell size IDA 10329199
GO:0010557 positive regulation of macromolecule biosynthetic process IEA,ISS --
GO:0010613 positive regulation of cardiac muscle hypertrophy IMP,IEA 10329199
genes like me logo Genes that share ontologies with MTPN: view

No data available for Pathways by source and SIGNOR curated interactions for MTPN Gene

Drugs & Compounds for MTPN Gene

(2) Drugs for MTPN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with MTPN: view

Transcripts for MTPN Gene

mRNA/cDNA for MTPN Gene

(1) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(642) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MTPN Gene

Myotrophin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTPN

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b
SP1:
SP2: - -

Relevant External Links for MTPN Gene

GeneLoc Exon Structure for
MTPN
ECgene alternative splicing isoforms for
MTPN

Expression for MTPN Gene

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

Protein differential expression in normal tissues from HIPED for MTPN Gene

This gene is overexpressed in Peripheral blood mononuclear cells (6.2).

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



Protein tissue co-expression partners for MTPN Gene

NURSA nuclear receptor signaling pathways regulating expression of MTPN Gene:

MTPN

SOURCE GeneReport for Unigene cluster for MTPN Gene:

Hs.602015

mRNA Expression by UniProt/SwissProt for MTPN Gene:

P58546-MTPN_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for MTPN Gene

  • Nervous system(4.7)
  • Lung(4.6)
  • Skin(3)
  • Heart(2.7)
  • Muscle(2.6)
genes like me logo Genes that share expression patterns with MTPN: view

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

Orthologs for MTPN Gene

This gene was present in the common ancestor of animals.

Orthologs for MTPN Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 100 (a)
OneToMany
-- 34
  • 97 (a)
OneToMany
-- 34
  • 97 (a)
OneToMany
-- 34
  • 94 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia MTPN 34 33
  • 100 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mtpn 16 34 33
  • 97.46 (n)
rat
(Rattus norvegicus)
Mammalia Mtpn 33
  • 96.89 (n)
dog
(Canis familiaris)
Mammalia MTPN 34 33
  • 96.05 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MTPN 34 33
  • 94.92 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTPN 34
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTPN 34 33
  • 90.68 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTPN 34
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtpn 33
  • 74.29 (n)
MGC76285 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.5094 33
zebrafish
(Danio rerio)
Actinopterygii mtpn 34 33
  • 72.88 (n)
OneToOne
wufa10f07 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7923 33
fruit fly
(Drosophila melanogaster)
Insecta CG31715 34 33
  • 60.63 (n)
OneToMany
CG7423 34
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C43H6.3 34 33
  • 51.99 (n)
OneToOne
Species where no ortholog for MTPN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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 MTPN Gene

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

Paralogs for MTPN Gene

No data available for Paralogs for MTPN Gene

Variants for MTPN Gene

Sequence variations from dbSNP and Humsavar for MTPN Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000031670 -- 135,977,456(-) TGCGCATGCGCA/TGCGCATGCGCATGCGCA 5_prime_UTR_variant, upstream_transcript_variant
rs1000104844 -- 135,977,363(-) G/C 5_prime_UTR_variant
rs1000132480 -- 135,964,943(-) A/G intron_variant
rs1000209192 -- 135,960,240(-) A/G intron_variant
rs1000230659 -- 135,971,935(-) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
nsv824314 CNV loss 20364138
nsv949952 CNV duplication 24416366

Variation tolerance for MTPN Gene

Residual Variation Intolerance Score: 51.8% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTPN Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MTPN Gene

MalaCards: The human disease database

(2) MalaCards diseases for MTPN Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
muscle hypertrophy
  • mslhp
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
- elite association - COSMIC cancer census association via MalaCards
Search MTPN in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MTPN

genes like me logo Genes that share disorders with MTPN: view

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

Publications for MTPN Gene

  1. Assignment of myotrophin to human chromosome band 7q33-->q35 by in situ hybridization. (PMID: 11474205) Mitra S … Sen S (Cytogenetics and cell genetics 2001) 2 3 22 58
  2. cDNA sequence and characterization of the gene that encodes human myotrophin/V-1 protein, a mediator of cardiac hypertrophy. (PMID: 10329199) Anderson KM … Chabot-Fletcher M (Journal of molecular and cellular cardiology 1999) 3 4 22 58
  3. Binding of myotrophin/V-1 to actin-capping protein: implications for how capping protein binds to the filament barbed end. (PMID: 16895918) Bhattacharya N … Cooper JA (The Journal of biological chemistry 2006) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 58

Products for MTPN Gene

Sources for MTPN Gene

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