This gene encodes a neuronal-specific member of the tropomodulin family of actin-regulatory proteins. The encoded protein caps the pointed end of actin filaments preventing both elongation and depolymerization. The capping activity of this protein is dependent on its association with tropomyosin. Alternatively spliced transcript variants encoding different isoforms have been de... See more...

Aliases for TMOD2 Gene

Aliases for TMOD2 Gene

  • Tropomodulin 2 2 3 5
  • Neuronal Tropomodulin 2 3 4
  • NTMOD 2 3 4
  • Tropomodulin-2 3 4
  • Tropomodulin 2 (Neuronal) 3
  • N-TMOD 3
  • N-Tmod 4
  • TMOD2 5

External Ids for TMOD2 Gene

Previous GeneCards Identifiers for TMOD2 Gene

  • GC15P047601
  • GC15P045089
  • GC15P049622
  • GC15P049759
  • GC15P049831
  • GC15P052043
  • GC15P028878

Summaries for TMOD2 Gene

Entrez Gene Summary for TMOD2 Gene

  • This gene encodes a neuronal-specific member of the tropomodulin family of actin-regulatory proteins. The encoded protein caps the pointed end of actin filaments preventing both elongation and depolymerization. The capping activity of this protein is dependent on its association with tropomyosin. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2008]

GeneCards Summary for TMOD2 Gene

TMOD2 (Tropomodulin 2) is a Protein Coding gene. Diseases associated with TMOD2 include Cardiomyopathy, Familial Hypertrophic, 3 and Amyotrophic Lateral Sclerosis Type 5. 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 TMOD3.

UniProtKB/Swiss-Prot Summary for TMOD2 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 (By similarity).

Gene Wiki entry for TMOD2 Gene

Additional gene information for TMOD2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMOD2 Gene

Genomics for TMOD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TMOD2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMOD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMOD2

Top Transcription factor binding sites by QIAGEN in the TMOD2 gene promoter:
  • AML1a
  • c-Rel
  • Cart-1
  • HNF-1
  • HNF-1A
  • Lmo2
  • NF-kappaB
  • Pax-3
  • Pax-4a
  • Roaz

Genomic Locations for TMOD2 Gene

Genomic Locations for TMOD2 Gene
chr15:51,751,561-51,816,363
(GRCh38/hg38)
Size:
64,803 bases
Orientation:
Plus strand
chr15:52,043,758-52,108,565
(GRCh37/hg19)
Size:
64,808 bases
Orientation:
Plus strand

Genomic View for TMOD2 Gene

Genes around TMOD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMOD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMOD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMOD2 Gene

Proteins for TMOD2 Gene

  • Protein details for TMOD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZR1-TMOD2_HUMAN
    Recommended name:
    Tropomodulin-2
    Protein Accession:
    Q9NZR1
    Secondary Accessions:
    • B4DEW6

    Protein attributes for TMOD2 Gene

    Size:
    351 amino acids
    Molecular mass:
    39595 Da
    Quaternary structure:
    • Binds to the N-terminus of tropomyosin and to actin.

    Alternative splice isoforms for TMOD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMOD2 Gene

Post-translational modifications for TMOD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMOD2 Gene

No data available for DME Specific Peptides for TMOD2 Gene

Domains & Families for TMOD2 Gene

Gene Families for TMOD2 Gene

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

Protein Domains for TMOD2 Gene

InterPro:
Blocks:
  • Tropomodulin
ProtoNet:

Suggested Antigen Peptide Sequences for TMOD2 Gene

GenScript: Design optimal peptide antigens:
  • TMOD2 protein (Q4G0W6_HUMAN)
  • Neuronal tropomodulin (TMOD2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NZR1

UniProtKB/Swiss-Prot:

TMOD2_HUMAN :
  • Belongs to the tropomodulin family.
Family:
  • Belongs to the tropomodulin family.
genes like me logo Genes that share domains with TMOD2: view

Function for TMOD2 Gene

Molecular function for TMOD2 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 (By similarity).
GENATLAS Biochemistry:
tropomodulin 2,neuronal

Phenotypes From GWAS Catalog for TMOD2 Gene

Gene Ontology (GO) - Molecular Function for TMOD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005523 tropomyosin binding IEA,IBA 21873635
genes like me logo Genes that share ontologies with TMOD2: view
genes like me logo Genes that share phenotypes with TMOD2: view

Animal Models for TMOD2 Gene

MGI Knock Outs for TMOD2:

Animal Model Products

CRISPR Products

miRNA for TMOD2 Gene

miRTarBase miRNAs that target TMOD2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMOD2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMOD2 Gene

Localization for TMOD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMOD2 Gene

Cytoplasm, cytoskeleton.

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 TMOD2 gene
Compartment Confidence
cytoskeleton 4
nucleus 3
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMOD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IBA 21873635
GO:0005865 striated muscle thin filament IBA 21873635
GO:0030016 myofibril IBA 21873635
GO:0030426 growth cone IEA --
genes like me logo Genes that share ontologies with TMOD2: view

Pathways & Interactions for TMOD2 Gene

genes like me logo Genes that share pathways with TMOD2: view

Pathways by source for TMOD2 Gene

1 Sino Biological pathway for TMOD2 Gene
2 Reactome pathways for TMOD2 Gene

Gene Ontology (GO) - Biological Process for TMOD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction IBA 21873635
GO:0007015 actin filament organization IBA 21873635
GO:0007270 neuron-neuron synaptic transmission IEA --
GO:0007399 nervous system development TAS 10662549
GO:0007611 learning or memory IEA --
genes like me logo Genes that share ontologies with TMOD2: view

No data available for SIGNOR curated interactions for TMOD2 Gene

Drugs & Compounds for TMOD2 Gene

No Compound Related Data Available

Transcripts for TMOD2 Gene

mRNA/cDNA for TMOD2 Gene

2 REFSEQ mRNAs :
12 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 TMOD2

Alternative Splicing Database (ASD) splice patterns (SP) for TMOD2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1: -
SP2: - -
SP3:

Relevant External Links for TMOD2 Gene

GeneLoc Exon Structure for
TMOD2

Expression for TMOD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMOD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMOD2 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.1), Brain - Anterior cingulate cortex (BA24) (x4.6), and Brain - Cortex (x4.1).

Protein differential expression in normal tissues from HIPED for TMOD2 Gene

This gene is overexpressed in Brain (44.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMOD2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMOD2

SOURCE GeneReport for Unigene cluster for TMOD2 Gene:

Hs.513734

mRNA Expression by UniProt/SwissProt for TMOD2 Gene:

Q9NZR1-TMOD2_HUMAN
Tissue specificity: Neuronal-tissue specific.

Evidence on tissue expression from TISSUES for TMOD2 Gene

  • Nervous system(4.9)
  • Eye(4.4)
genes like me logo Genes that share expression patterns with TMOD2: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMOD2 Gene

Orthologs for TMOD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMOD2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TMOD2 30 31
  • 99.62 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TMOD2 30 31
  • 93.16 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TMOD2 30 31
  • 92.12 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tmod2 30 17 31
  • 90.03 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tmod2 30
  • 88.79 (n)
Oppossum
(Monodelphis domestica)
Mammalia TMOD2 31
  • 86 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TMOD2 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TMOD2 30 31
  • 78.82 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TMOD2 31
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tmod2 30
  • 73.12 (n)
Zebrafish
(Danio rerio)
Actinopterygii tmod2 30 31
  • 71.33 (n)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.683 30
Fruit Fly
(Drosophila melanogaster)
Insecta spdo 32
  • 34 (a)
Species where no ortholog for TMOD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 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 TMOD2 Gene

ENSEMBL:
Gene Tree for TMOD2 (if available)
TreeFam:
Gene Tree for TMOD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMOD2: view image

Paralogs for TMOD2 Gene

Paralogs for TMOD2 Gene

(8) SIMAP similar genes for TMOD2 Gene using alignment to 4 proteins:

  • TMOD2_HUMAN
  • G5EA42_HUMAN
  • H0YMA2_HUMAN
  • Q4G0W6_HUMAN
genes like me logo Genes that share paralogs with TMOD2: view

Variants for TMOD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMOD2 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs34791185 - p.Pro63Ala

Additional dbSNP identifiers (rs#s) for TMOD2 Gene

Structural Variations from Database of Genomic Variants (DGV) for TMOD2 Gene

Variant ID Type Subtype PubMed ID
nsv569409 CNV loss 21841781

Variation tolerance for TMOD2 Gene

Residual Variation Intolerance Score: 17.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.61; 45.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMOD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMOD2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMOD2 Gene

Disorders for TMOD2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TMOD2 Gene - From: DISEASES and Novoseek

- elite association - COSMIC cancer census association via MalaCards
Search TMOD2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TMOD2

genes like me logo Genes that share disorders with TMOD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMOD2 Gene

Publications for TMOD2 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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. 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
  4. Nuclear actin interactome analysis links actin to KAT14 histone acetyl transferase and mRNA splicing. (PMID: 30890647) Viita T … Vartiainen MK (Journal of cell science 2019) 3
  5. DYRK1A regulates the recruitment of 53BP1 to the sites of DNA damage in part through interaction with RNF169. (PMID: 30773093) Menon VR … Litovchick L (Cell cycle (Georgetown, Tex.) 2019) 3

Products for TMOD2 Gene

  • Signalway ELISA kits for TMOD2

Sources for TMOD2 Gene