Aliases for THUMPD2 Gene

Aliases for THUMPD2 Gene

  • THUMP Domain Containing 2 2 3 5
  • THUMP Domain-Containing Protein 2 3 4
  • C2orf8 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • Chromosome 2 Open Reading Frame 8 2
  • SAM-Dependent Methyltransferase 3
  • THUMPD2 5
  • MGC2454 2

External Ids for THUMPD2 Gene

Previous HGNC Symbols for THUMPD2 Gene

  • C2orf8

Previous GeneCards Identifiers for THUMPD2 Gene

  • GC02M039938
  • GC02M039875

Summaries for THUMPD2 Gene

GeneCards Summary for THUMPD2 Gene

THUMPD2 (THUMP Domain Containing 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include RNA binding and methyltransferase activity. An important paralog of this gene is THUMPD3.

Additional gene information for THUMPD2 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for THUMPD2 Gene

Genomics for THUMPD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for THUMPD2 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 THUMPD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for THUMPD2

Top Transcription factor binding sites by QIAGEN in the THUMPD2 gene promoter:
  • COMP1
  • FOXJ2
  • FOXJ2 (long isoform)
  • FOXL1
  • Lmo2
  • NF-1/L
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • Sox9

Genomic Locations for THUMPD2 Gene

Genomic Locations for THUMPD2 Gene
chr2:39,736,060-39,779,276
(GRCh38/hg38)
Size:
43,217 bases
Orientation:
Minus strand
chr2:39,963,200-40,006,416
(GRCh37/hg19)
Size:
43,217 bases
Orientation:
Minus strand

Genomic View for THUMPD2 Gene

Genes around THUMPD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
THUMPD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for THUMPD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for THUMPD2 Gene

Proteins for THUMPD2 Gene

  • Protein details for THUMPD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BTF0-THUM2_HUMAN
    Recommended name:
    THUMP domain-containing protein 2
    Protein Accession:
    Q9BTF0
    Secondary Accessions:
    • A8K7I7
    • Q53TT8
    • Q53TV0

    Protein attributes for THUMPD2 Gene

    Size:
    503 amino acids
    Molecular mass:
    56433 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH04163.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH13299.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAL26317.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAY14769.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for THUMPD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for THUMPD2 Gene

Post-translational modifications for THUMPD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for THUMPD2 Gene

Domains & Families for THUMPD2 Gene

Gene Families for THUMPD2 Gene

Protein Domains for THUMPD2 Gene

InterPro:
Blocks:
  • Putative RNA methylase
ProtoNet:

Suggested Antigen Peptide Sequences for THUMPD2 Gene

GenScript: Design optimal peptide antigens:
  • THUMP domain containing 2, isoform CRA_b (D6W593_HUMAN)
  • THUMP domain-containing protein 2 (THUM2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BTF0

UniProtKB/Swiss-Prot:

THUM2_HUMAN :
  • Belongs to the methyltransferase superfamily.
Family:
  • Belongs to the methyltransferase superfamily.
genes like me logo Genes that share domains with THUMPD2: view

Function for THUMPD2 Gene

Phenotypes From GWAS Catalog for THUMPD2 Gene

Gene Ontology (GO) - Molecular Function for THUMPD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0008168 methyltransferase activity IEA --
GO:0016423 tRNA (guanine) methyltransferase activity IBA 21873635
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with THUMPD2: view
genes like me logo Genes that share phenotypes with THUMPD2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for THUMPD2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for THUMPD2 Gene

Localization for THUMPD2 Gene

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 THUMPD2 gene
Compartment Confidence
nucleus 2
cytosol 2
mitochondrion 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for THUMPD2 Gene

Pathways & Interactions for THUMPD2 Gene

PathCards logo

SuperPathways for THUMPD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for THUMPD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030488 tRNA methylation IBA 21873635
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with THUMPD2: view

No data available for Pathways by source and SIGNOR curated interactions for THUMPD2 Gene

Drugs & Compounds for THUMPD2 Gene

(1) Additional Compounds for THUMPD2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with THUMPD2: view

Transcripts for THUMPD2 Gene

mRNA/cDNA for THUMPD2 Gene

11 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
9 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 THUMPD2

Alternative Splicing Database (ASD) splice patterns (SP) for THUMPD2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c
SP1: -
SP2: - -
SP3: -
SP4:

Relevant External Links for THUMPD2 Gene

GeneLoc Exon Structure for
THUMPD2

Expression for THUMPD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for THUMPD2 Gene

Protein differential expression in normal tissues from HIPED for THUMPD2 Gene

This gene is overexpressed in Prostate (24.7), CD4 Tcells (21.1), and Ovary (13.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for THUMPD2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for THUMPD2

SOURCE GeneReport for Unigene cluster for THUMPD2 Gene:

Hs.468254

mRNA Expression by UniProt/SwissProt for THUMPD2 Gene:

Q9BTF0-THUM2_HUMAN
Tissue specificity: Expressed in a variety of tissues including brain, colon, gingiva, heart, kidney, liver, lung, placenta, small intestine, spleen and thymus.

Evidence on tissue expression from TISSUES for THUMPD2 Gene

  • Intestine(4.2)
  • Muscle(4.2)
genes like me logo Genes that share expression patterns with THUMPD2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for THUMPD2 Gene

Orthologs for THUMPD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for THUMPD2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia THUMPD2 30 31
  • 99.47 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia THUMPD2 30 31
  • 87.56 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia THUMPD2 30 31
  • 83.8 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Thumpd2 30 17 31
  • 77 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Thumpd2 30
  • 74.67 (n)
Oppossum
(Monodelphis domestica)
Mammalia THUMPD2 31
  • 66 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia THUMPD2 31
  • 59 (a)
OneToOne
Chicken
(Gallus gallus)
Aves THUMPD2 30 31
  • 63.69 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia THUMPD2 31
  • 48 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia thumpd2 30
  • 56.54 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7066 30
Zebrafish
(Danio rerio)
Actinopterygii thumpd2 30 31
  • 53.18 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea M04B2.2 31
  • 22 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 24 (a)
OneToMany
Species where no ortholog for THUMPD2 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 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 THUMPD2 Gene

ENSEMBL:
Gene Tree for THUMPD2 (if available)
TreeFam:
Gene Tree for THUMPD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for THUMPD2: view image

Paralogs for THUMPD2 Gene

Paralogs for THUMPD2 Gene

genes like me logo Genes that share paralogs with THUMPD2: view

Variants for THUMPD2 Gene

Additional dbSNP identifiers (rs#s) for THUMPD2 Gene

Structural Variations from Database of Genomic Variants (DGV) for THUMPD2 Gene

Variant ID Type Subtype PubMed ID
esv3590439 CNV loss 21293372
nsv2696 CNV deletion 18451855
nsv833870 CNV gain 17160897
nsv833881 CNV loss 17160897

Variation tolerance for THUMPD2 Gene

Residual Variation Intolerance Score: 26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.32; 53.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for THUMPD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
THUMPD2

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 THUMPD2 Gene

Disorders for THUMPD2 Gene

Additional Disease Information for THUMPD2

No disorders were found for THUMPD2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for THUMPD2 Gene

Publications for THUMPD2 Gene

  1. Localization, genomic organization, and alternative transcription of a novel human SAM-dependent methyltransferase gene on chromosome 2p22-->p21. (PMID: 12063391) Zhang Y … Hart TC (Cytogenetics and cell genetics 2001) 2 3 4 23
  2. Genome-wide association scan for five major dimensions of personality. (PMID: 18957941) Terracciano A … Costa PT (Molecular psychiatry 2010) 3 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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
  5. Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis. (PMID: 31536960) Moutaoufik MT … Babu M (iScience 2019) 3

Products for THUMPD2 Gene

Sources for THUMPD2 Gene