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Aliases for TM2D1 Gene

Aliases for TM2D1 Gene

  • TM2 Domain Containing 1 2 3 5
  • Beta-Amyloid-Binding Protein 3 4
  • HBBP 3 4
  • BBP 3 4

External Ids for TM2D1 Gene

Previous GeneCards Identifiers for TM2D1 Gene

  • GC01M061859
  • GC01M062146
  • GC01M060259

Summaries for TM2D1 Gene

Entrez Gene Summary for TM2D1 Gene

  • The protein encoded by this gene is a beta-amyloid peptide-binding protein. It contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily and known to be important in heterotrimeric G protein activation. Beta-amyloid peptide has been established to be a causative factor in neuron death and the consequent diminution of cognitive abilities observed in Alzheimer's disease. This protein may be a target of neurotoxic beta-amyloid peptide, and may mediate cellular vulnerability to beta-amyloid peptide toxicity through a G protein-regulated program of cell death. Several transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]

GeneCards Summary for TM2D1 Gene

TM2D1 (TM2 Domain Containing 1) is a Protein Coding gene. Diseases associated with TM2D1 include alzheimer disease. GO annotations related to this gene include G-protein coupled receptor activity and beta-amyloid binding. An important paralog of this gene is TM2D3.

UniProtKB/Swiss-Prot for TM2D1 Gene

  • May participate in beta-amyloid-induced apoptosis via its interaction with beta-APP42.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TM2D1 Gene

Genomics for TM2D1 Gene

Regulatory Elements for TM2D1 Gene

Promoters for TM2D1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TM2D1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TM2D1 Gene

Chromosome:
1
Start:
61,681,046 bp from pter
End:
61,725,423 bp from pter
Size:
44,378 bases
Orientation:
Minus strand

Genomic View for TM2D1 Gene

Genes around TM2D1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TM2D1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TM2D1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TM2D1 Gene

Proteins for TM2D1 Gene

  • Protein details for TM2D1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BX74-TM2D1_HUMAN
    Recommended name:
    TM2 domain-containing protein 1
    Protein Accession:
    Q9BX74
    Secondary Accessions:
    • A6NDA8

    Protein attributes for TM2D1 Gene

    Size:
    207 amino acids
    Molecular mass:
    22327 Da
    Quaternary structure:
    • Interacts with beta-APP42 (beta-amyloid protein 42) peptide of APP.

neXtProt entry for TM2D1 Gene

Proteomics data for TM2D1 Gene at MOPED

Post-translational modifications for TM2D1 Gene

No data available for DME Specific Peptides for TM2D1 Gene

Domains & Families for TM2D1 Gene

Protein Domains for TM2D1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TM2D1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BX74

UniProtKB/Swiss-Prot:

TM2D1_HUMAN :
  • Belongs to the TM2 family.
Family:
  • Belongs to the TM2 family.
genes like me logo Genes that share domains with TM2D1: view

No data available for Gene Families for TM2D1 Gene

Function for TM2D1 Gene

Molecular function for TM2D1 Gene

UniProtKB/Swiss-Prot Function:
May participate in beta-amyloid-induced apoptosis via its interaction with beta-APP42.

Gene Ontology (GO) - Molecular Function for TM2D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G-protein coupled receptor activity IBA --
genes like me logo Genes that share ontologies with TM2D1: view
genes like me logo Genes that share phenotypes with TM2D1: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TM2D1 Gene

Localization for TM2D1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TM2D1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TM2D1 Gene COMPARTMENTS Subcellular localization image for TM2D1 gene
Compartment Confidence
nucleus 5
plasma membrane 4
mitochondrion 2
cytosol 1
endoplasmic reticulum 1

No data available for Gene Ontology (GO) - Cellular Components for TM2D1 Gene

Pathways & Interactions for TM2D1 Gene

SuperPathways for TM2D1 Gene

No Data Available

Interacting Proteins for TM2D1 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000360222%0d%0a9606.ENSP00000284981%0d%0a9606.ENSP00000385269%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000360222 Q9BX74-TM2D1_HUMAN for TM2D1 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for TM2D1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TM2D1 Gene

Drugs & Compounds for TM2D1 Gene

No Compound Related Data Available

Transcripts for TM2D1 Gene

Unigene Clusters for TM2D1 Gene

TM2 domain containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TM2D1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11
SP1: - - - - - - -
SP2: - - -
SP3: - - - -
SP4: - -
SP5: - - - -
SP6: - - - - -
SP7: -
SP8:

Relevant External Links for TM2D1 Gene

GeneLoc Exon Structure for
TM2D1
ECgene alternative splicing isoforms for
TM2D1

Expression for TM2D1 Gene

mRNA expression in normal human tissues for TM2D1 Gene

Protein differential expression in normal tissues from HIPED for TM2D1 Gene

This gene is overexpressed in Gallbladder (43.9) and Ovary (25.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TM2D1 Gene



SOURCE GeneReport for Unigene cluster for TM2D1 Gene Hs.656790

mRNA Expression by UniProt/SwissProt for TM2D1 Gene

Q9BX74-TM2D1_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with TM2D1: view

Protein tissue co-expression partners for TM2D1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TM2D1 Gene

Orthologs for TM2D1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TM2D1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TM2D1 35
  • 89.27 (n)
  • 90.24 (a)
TM2D1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC479551 35
  • 91.3 (n)
  • 92.75 (a)
TM2D1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tm2d1 35
  • 85.67 (n)
  • 85.51 (a)
Tm2d1 16
Tm2d1 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TM2D1 35
  • 99.68 (n)
  • 99.03 (a)
TM2D1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tm2d1 35
  • 84.86 (n)
  • 85.02 (a)
oppossum
(Monodelphis domestica)
Mammalia TM2D1 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves TM2D1 35
  • 72.53 (n)
  • 73.87 (a)
TM2D1 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tm2d1 35
  • 68.46 (n)
  • 71.51 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16476 35
zebrafish
(Danio rerio)
Actinopterygii tm2d1 35
  • 64.86 (n)
  • 71.69 (a)
tm2d1 36
  • 62 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007485 35
  • 51.63 (n)
  • 48.37 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10795 35
  • 50 (n)
  • 46.62 (a)
CG10795 36
  • 39 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y66D12A.21 35
  • 48.82 (n)
  • 39.35 (a)
Y66D12A.21 36
  • 35 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8088 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6883 36
  • 49 (a)
OneToOne
Species with no ortholog for TM2D1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • lizard (Anolis carolinensis)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 TM2D1 Gene

ENSEMBL:
Gene Tree for TM2D1 (if available)
TreeFam:
Gene Tree for TM2D1 (if available)

Paralogs for TM2D1 Gene

Paralogs for TM2D1 Gene

Pseudogenes.org Pseudogenes for TM2D1 Gene

genes like me logo Genes that share paralogs with TM2D1: view

Variants for TM2D1 Gene

Sequence variations from dbSNP and Humsavar for TM2D1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1064482 -- 61,681,856(-) CTAGA(A/T)TTTAG intron-variant
rs1064483 -- 61,681,854(-) AGATT(C/T)TAGGT intron-variant
rs1064484 -- 61,681,846(-) GGTCT(C/T)CCAAA intron-variant
rs1064485 -- 61,681,842(-) TCCCA(A/T)ACATT intron-variant
rs1064486 -- 61,681,786(-) TCAAC(G/T)GTATC intron-variant

Variation tolerance for TM2D1 Gene

Gene Damage Index Score: 2.34; 41.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TM2D1 Gene

HapMap Linkage Disequilibrium report
TM2D1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TM2D1 Gene

Disorders for TM2D1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TM2D1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards
Search TM2D1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TM2D1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TM2D1
genes like me logo Genes that share disorders with TM2D1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TM2D1 Gene

Publications for TM2D1 Gene

  1. Beta-amyloid peptide-induced apoptosis regulated by a novel protein containing a G protein activation module. (PMID: 11278849) Kajkowski E.M. … Ozenberger B.A. (J. Biol. Chem. 2001) 2 3 4 67
  2. Beta-amyloid peptide binding protein does not couple to G protein in a heterologous Xenopus expression system. (PMID: 12836168) Lee Y. … Kaang B.-K. (J. Neurosci. Res. 2003) 3 23
  3. The secretory beta-amyloid precursor protein is a motogen for human epidermal keratinocytes. (PMID: 12553667) Kirfel G. … Herzog V. (Eur. J. Cell Biol. 2002) 2 3
  4. Ubiquitin-mediated proteolysis of HuR by heat shock. (PMID: 19322201) Abdelmohsen K. … Gorospe M. (EMBO J. 2009) 3
  5. tRNA recognition, processing, and disease: hypotheses around an unorthodox type of RNase P in human mitochondria. (PMID: 19376274) Holzmann J. … Rossmanith W. (Mitochondrion 2009) 23

Products for TM2D1 Gene

Sources for TM2D1 Gene

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