Aliases for TMOD4 Gene

Aliases for TMOD4 Gene

  • Tropomodulin 4 2 3 5
  • Skeletal Muscle Tropomodulin 3 4
  • Tropomodulin 4 (Muscle) 2 3
  • Actin-Capping Protein 2 3
  • Skeletal Tropomodulin 2 3
  • Tropomodulin-4 3 4
  • Sk-Tmod 2 4
  • SK-TMOD 3
  • TMOD4 5

External Ids for TMOD4 Gene

Previous GeneCards Identifiers for TMOD4 Gene

  • GC01U990301
  • GC01M146889
  • GC01M147917
  • GC01M148359
  • GC01M147955
  • GC01M149409
  • GC01M151142
  • GC01M122520

Summaries for TMOD4 Gene

GeneCards Summary for TMOD4 Gene

TMOD4 (Tropomodulin 4) is a Protein Coding gene. Diseases associated with TMOD4 include Deafness, Autosomal Recessive 102 and Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency. Among its related pathways are Cardiac conduction and Striated Muscle Contraction. Gene Ontology (GO) annotations related to this gene include actin binding and tropomyosin binding. An important paralog of this gene is TMOD1.

UniProtKB/Swiss-Prot Summary for TMOD4 Gene

  • Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton.

Gene Wiki entry for TMOD4 Gene

Additional gene information for TMOD4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMOD4 Gene

Genomics for TMOD4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TMOD4 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
GH01J151174 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 600.7 +0.8 802 2.2 CTCF PRDM1 PATZ1 POLR2A SPI1 SUPT5H GLIS1 ZNF398 ZNF143 RAD21 MN308799 TMOD4 lnc-TMOD4-1 LYSMD1 NONHSAG002898.2 VPS72
GH01J151177 Promoter 0.3 EPDnew 600.7 -1.7 -1735 0.1 MN308799 TMOD4 lnc-TMOD4-1 VPS72 lnc-VPS72-2
GH01J151184 Promoter 0.3 EPDnew 600.4 -8.1 -8051 0.1 TMOD4 MN308799 VPS72 lnc-VPS72-2
GH01J151193 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 13.3 -21.4 -21403 7.8 CEBPG SP1 CREB1 GATAD2A CTCF ARID3A PRDM10 ZNF629 REST TFE3 PIP5K1A NONHSAG002903.2 RF00017-344 LYSMD1 BNIPL PSMD4 TMOD4 SCNM1 ZNF687 ZNF687-AS1
GH01J151142 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11 +31.1 31075 6.1 SP1 CREB1 GATAD2A PRDM10 IKZF1 ZNF692 TARDBP ZNF143 RFX1 ZIC2 SEMA6C BNIPL GABPB2 PRUNE1 TMOD4 PIP5K1A VPS72 RNU6-884P LYSMD1 C1orf56
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMOD4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMOD4

Top Transcription factor binding sites by QIAGEN in the TMOD4 gene promoter:
  • GATA-2
  • IRF-7A
  • MZF-1
  • Nkx3-1
  • Nkx3-1 v3
  • NRSF form 1
  • NRSF form 2
  • RORalpha2
  • Sox5
  • Sox9

Genomic Locations for TMOD4 Gene

Genomic Locations for TMOD4 Gene
chr1:151,169,986-151,176,284
(GRCh38/hg38)
Size:
6,299 bases
Orientation:
Minus strand
chr1:151,142,462-151,148,760
(GRCh37/hg19)
Size:
6,299 bases
Orientation:
Minus strand

Genomic View for TMOD4 Gene

Genes around TMOD4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMOD4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMOD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMOD4 Gene

Proteins for TMOD4 Gene

  • Protein details for TMOD4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZQ9-TMOD4_HUMAN
    Recommended name:
    Tropomodulin-4
    Protein Accession:
    Q9NZQ9
    Secondary Accessions:
    • B7Z6N9
    • Q5JR83
    • Q8WVL3
    • Q9UKH2

    Protein attributes for TMOD4 Gene

    Size:
    345 amino acids
    Molecular mass:
    39335 Da
    Quaternary structure:
    • Binds to the N-terminus of tropomyosin and to actin.

    Alternative splice isoforms for TMOD4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMOD4 Gene

Post-translational modifications for TMOD4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMOD4 Gene

No data available for DME Specific Peptides for TMOD4 Gene

Domains & Families for TMOD4 Gene

Gene Families for TMOD4 Gene

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

Protein Domains for TMOD4 Gene

InterPro:
Blocks:
  • Tropomodulin
ProtoNet:

Suggested Antigen Peptide Sequences for TMOD4 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57600, moderately similar to Tropomodulin-4 (B7Z6N9_HUMAN)
  • cDNA FLJ35381 fis, clone SKMUS2007359, highly similar to Tropomodulin 4 (muscle) (Q8N706_HUMAN)
  • Skeletal muscle tropomodulin (TMOD4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NZQ9

UniProtKB/Swiss-Prot:

TMOD4_HUMAN :
  • Belongs to the tropomodulin family.
Family:
  • Belongs to the tropomodulin family.
genes like me logo Genes that share domains with TMOD4: view

Function for TMOD4 Gene

Molecular function for TMOD4 Gene

UniProtKB/Swiss-Prot Function:
Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton.
GENATLAS Biochemistry:
tropomodulin 4,expressed in muscle

Phenotypes From GWAS Catalog for TMOD4 Gene

Gene Ontology (GO) - Molecular Function for TMOD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005523 tropomyosin binding IEA,IBA 21873635
GO:0051015 actin filament binding IEA --
genes like me logo Genes that share ontologies with TMOD4: view
genes like me logo Genes that share phenotypes with TMOD4: view

Animal Models for TMOD4 Gene

MGI Knock Outs for TMOD4:
  • Tmod4 Tmod4<tm1(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for TMOD4 Gene

miRTarBase miRNAs that target TMOD4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMOD4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMOD4 Gene

Localization for TMOD4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMOD4 Gene

Cytoplasm, cytoskeleton. Note=In myofibrils with sarcomeric structure, localizes to the pointed end of actin thin filaments (PubMed:25250574). {ECO:0000269 PubMed:25250574}.

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 TMOD4 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
plasma membrane 2
nucleus 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TMOD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IBA 21873635
GO:0005865 striated muscle thin filament IEA,IDA 25250574
GO:0030016 myofibril IBA 21873635
genes like me logo Genes that share ontologies with TMOD4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMOD4 Gene

Pathways & Interactions for TMOD4 Gene

genes like me logo Genes that share pathways with TMOD4: view

Pathways by source for TMOD4 Gene

1 Sino Biological pathway for TMOD4 Gene
2 Reactome pathways for TMOD4 Gene

Gene Ontology (GO) - Biological Process for TMOD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction IBA 21873635
GO:0007015 actin filament organization IBA 21873635
GO:0030239 myofibril assembly IBA 21873635
GO:0051694 pointed-end actin filament capping IEA --
genes like me logo Genes that share ontologies with TMOD4: view

No data available for SIGNOR curated interactions for TMOD4 Gene

Drugs & Compounds for TMOD4 Gene

(2) Drugs for TMOD4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with TMOD4: view

Transcripts for TMOD4 Gene

mRNA/cDNA for TMOD4 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMOD4

Alternative Splicing Database (ASD) splice patterns (SP) for TMOD4 Gene

No ASD Table

Relevant External Links for TMOD4 Gene

GeneLoc Exon Structure for
TMOD4

Expression for TMOD4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMOD4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMOD4 Gene

This gene is overexpressed in Muscle - Skeletal (x49.2).

Protein differential expression in normal tissues from HIPED for TMOD4 Gene

This gene is overexpressed in Esophagus (43.0) and Brain (26.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMOD4 Gene



Protein tissue co-expression partners for TMOD4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMOD4

SOURCE GeneReport for Unigene cluster for TMOD4 Gene:

Hs.709681

mRNA Expression by UniProt/SwissProt for TMOD4 Gene:

Q9NZQ9-TMOD4_HUMAN
Tissue specificity: Highly expressed in skeletal muscle.

Evidence on tissue expression from TISSUES for TMOD4 Gene

  • Muscle(4.9)
  • Heart(2.1)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with TMOD4: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TMOD4 Gene

Orthologs for TMOD4 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMOD4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TMOD4 30 31
  • 99.9 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TMOD4 30 31
  • 92.95 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TMOD4 30 31
  • 92.75 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tmod4 30 17 31
  • 90.43 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tmod4 30
  • 89.95 (n)
Oppossum
(Monodelphis domestica)
Mammalia TMOD4 31
  • 87 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TMOD4 31
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC100857513 30
  • 72.58 (n)
SKTMOD 31
  • 69 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TMOD4 31
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tmod4 30
  • 69.59 (n)
Str.17389 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.24784 30
Zebrafish
(Danio rerio)
Actinopterygii tmod4 30 31
  • 68.87 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta spdo 32
  • 34 (a)
Species where no ortholog for TMOD4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
  • Worm (Caenorhabditis elegans)

Evolution for TMOD4 Gene

ENSEMBL:
Gene Tree for TMOD4 (if available)
TreeFam:
Gene Tree for TMOD4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMOD4: view image

Paralogs for TMOD4 Gene

Paralogs for TMOD4 Gene

(6) SIMAP similar genes for TMOD4 Gene using alignment to 6 proteins:

  • TMOD4_HUMAN
  • B7Z6N9_HUMAN
  • K7EQW4_HUMAN
  • K7ES04_HUMAN
  • Q5JR82_HUMAN
  • Q8N706_HUMAN
genes like me logo Genes that share paralogs with TMOD4: view

Variants for TMOD4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMOD4 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs11800088 - p.Asn336Ser

Additional dbSNP identifiers (rs#s) for TMOD4 Gene

Structural Variations from Database of Genomic Variants (DGV) for TMOD4 Gene

Variant ID Type Subtype PubMed ID
dgv2n68 CNV loss 17160897
nsv522840 CNV gain 19592680

Variation tolerance for TMOD4 Gene

Residual Variation Intolerance Score: 78.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.09; 50.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMOD4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMOD4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMOD4 Gene

Disorders for TMOD4 Gene

MalaCards: The human disease database

(6) MalaCards diseases for TMOD4 Gene - From: DISEASES and GeneCards

genes like me logo Genes that share disorders with TMOD4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMOD4 Gene

Publications for TMOD4 Gene

  1. Sequencing, expression analysis, and mapping of three unique human tropomodulin genes and their mouse orthologs. (PMID: 10662549) Cox PR … Zoghbi HY (Genomics 2000) 2 3 4 23
  2. Identification of a novel tropomodulin isoform, skeletal tropomodulin, that caps actin filament pointed ends in fast skeletal muscle. (PMID: 10497209) Almenar-Queralt A … Fowler VM (The Journal of biological chemistry 1999) 2 3 4
  3. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. (PMID: 25250574) Yuen M … Clarke NF (The Journal of clinical investigation 2014) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. 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

Products for TMOD4 Gene

  • Signalway ELISA kits for TMOD4
  • Signalway Proteins for TMOD4

Sources for TMOD4 Gene