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Aliases for TM2D1 Gene

Aliases for TM2D1 Gene

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

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. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and amyloid-beta binding. An important paralog of this gene is TM2D3.

UniProtKB/Swiss-Prot for TM2D1 Gene

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

Additional gene information for TM2D1 Gene

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

Genomics for TM2D1 Gene

GeneHancer (GH) Regulatory Elements for TM2D1 Gene

Promoters and enhancers for TM2D1 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
GH01I061723 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.3 311 2.4 PKNOX1 SMAD1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 YY1 SLC30A9 TM2D1 ENSG00000270742 USP1 GC01M061668
GH01I062356 Enhancer 1.3 FANTOM5 Ensembl ENCODE 23.2 -631.3 -631277 0.6 ZNF493 ZFP64 INSM2 KLF17 ZEB1 ZNF155 ZNF213 ZNF366 ZNF143 FOS USP1 ENSG00000271200 TM2D1 DOCK7 KANK4 LOC105378768
GH01I061048 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE dbSUPER 10 +671.6 671643 9.6 CLOCK FEZF1 DMAP1 YY1 ZNF213 ZNF143 SP3 MEF2D SSRP1 GLIS1 NFIA-AS2 NFIA-AS1 TM2D1 NFIA GC01P061077 GC01P060986
GH01I061741 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 4.9 -17.3 -17303 2.8 ARID4B FEZF1 BRCA1 ZNF121 GLIS2 KLF7 KLF13 SP3 SP5 YY2 PATJ ENSG00000271200 TM2D1 PIR51379
GH01I061753 Enhancer 0.5 ENCODE 16.3 -29.1 -29143 1.2 JUND ZNF362 PRDM6 FOS SP7 TM2D1 RNU6-414P PATJ RNU6-1177P PIR51379
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TM2D1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TM2D1 gene promoter:

Genomic Locations for TM2D1 Gene

Genomic Locations for TM2D1 Gene
chr1:61,681,046-61,725,423
(GRCh38/hg38)
Size:
44,378 bases
Orientation:
Minus strand
chr1:62,146,718-62,191,095
(GRCh37/hg19)

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 APP beta-APP42 (amyloid-beta protein 42).

neXtProt entry for TM2D1 Gene

Post-translational modifications for TM2D1 Gene

No data available for DME Specific Peptides for TM2D1 Gene

Domains & Families for TM2D1 Gene

Gene Families for TM2D1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

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

Function for TM2D1 Gene

Molecular function for TM2D1 Gene

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

Phenotypes From GWAS Catalog for TM2D1 Gene

Gene Ontology (GO) - Molecular Function for TM2D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding IBA --
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

Clone 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
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 TM2D1 gene
Compartment Confidence
plasma membrane 4
nucleus 3
mitochondrion 2
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TM2D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TM2D1: view

Pathways & Interactions for TM2D1 Gene

SuperPathways for TM2D1 Gene

No Data Available

Interacting Proteins for TM2D1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000360222%0d%0a9606.ENSP00000284981%0d%0a9606.ENSP00000263574%0d%0a
Selected Interacting proteins: Q9BX74-TM2D1_HUMAN ENSP00000360222 for TM2D1 Gene via IID STRING

Gene Ontology (GO) - Biological Process for TM2D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0007186 G-protein coupled receptor signaling pathway IBA --
GO:0097190 apoptotic signaling pathway IBA --
genes like me logo Genes that share ontologies with TM2D1: view

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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for TM2D1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TM2D1 Gene:

TM2D1

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.

Evidence on tissue expression from TISSUES for TM2D1 Gene

  • Nervous system(3.4)
genes like me logo Genes that share expression patterns with TM2D1: 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 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
chimpanzee
(Pan troglodytes)
Mammalia TM2D1 33 34
  • 99.68 (n)
oppossum
(Monodelphis domestica)
Mammalia TM2D1 34
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TM2D1 34
  • 92 (a)
OneToOne
LOC479551 33
  • 91.3 (n)
cow
(Bos Taurus)
Mammalia TM2D1 33 34
  • 89.27 (n)
mouse
(Mus musculus)
Mammalia Tm2d1 33 16 34
  • 85.67 (n)
rat
(Rattus norvegicus)
Mammalia Tm2d1 33
  • 84.86 (n)
chicken
(Gallus gallus)
Aves TM2D1 33 34
  • 72.53 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia tm2d1 33
  • 68.46 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16476 33
zebrafish
(Danio rerio)
Actinopterygii tm2d1 33 34
  • 64.86 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007485 33
  • 51.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10795 33 34
  • 50 (n)
worm
(Caenorhabditis elegans)
Secernentea Y66D12A.21 33 34
  • 48.82 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6883 34
  • 49 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8088 33
Species where no ortholog for TM2D1 was found in the sources mined by GeneCards:
  • 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

Variants for TM2D1 Gene

Sequence variations from dbSNP and Humsavar for TM2D1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000037178 -- 61,695,402(-) G/C intron_variant
rs1000121072 -- 61,685,056(-) C/T intron_variant
rs1000172170 -- 61,703,108(-) A/T intron_variant
rs1000398432 -- 61,691,876(-) C/G intron_variant
rs1000422467 -- 61,698,241(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TM2D1 Gene

Variant ID Type Subtype PubMed ID
nsv950774 CNV duplication 24416366
nsv473122 CNV novel sequence insertion 20440878

Variation tolerance for TM2D1 Gene

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

Additional Variant Information for TM2D1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TM2D1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TM2D1 Gene

Disorders for TM2D1 Gene

MalaCards: The human disease database

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

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

Additional Disease Information for 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 binding protein does not couple to G protein in a heterologous Xenopus expression system. (PMID: 12836168) Lee Y … Kaang BK (Journal of neuroscience research 2003) 3 4 22 58
  2. beta -Amyloid peptide-induced apoptosis regulated by a novel protein containing a g protein activation module. (PMID: 11278849) Kajkowski EM … Ozenberger BA (The Journal of biological chemistry 2001) 2 3 4 58
  3. Ubiquitin-mediated proteolysis of HuR by heat shock. (PMID: 19322201) Abdelmohsen K … Gorospe M (The EMBO journal 2009) 3 58
  4. tRNA recognition, processing, and disease: hypotheses around an unorthodox type of RNase P in human mitochondria. (PMID: 19376274) Holzmann J … Rossmanith W (Mitochondrion 2009) 22 58
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P … Vidal M (Genomics 2007) 3 58

Products for TM2D1 Gene

Sources for TM2D1 Gene

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