TM2D1 Gene (Protein Coding)

TM2 Domain Containing 1

GC01M061681
GIFtS:
33
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 c... See more...

Aliases for TM2D1 Gene

Aliases for TM2D1 Gene

  • TM2 Domain Containing 1 2 3 5
  • BBP 2 3 4
  • Beta-Amyloid Peptide Binding Protein 2 3
  • TM2 Domain-Containing Protein 1 3 4
  • Amyloid-Beta-Binding Protein 3 4
  • HBBP 3 4
  • Beta-Amyloid-Binding Protein 3
  • TM2D1 5

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 and Mast Syndrome. 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 Summary 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 , Rfam classification and piRNA Summary for TM2D1 Gene

Genomics for TM2D1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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
GH01J061724 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 612.8 +0.7 659 3.1 SP1 HNRNPL CREB1 GATAD2A PRDM10 REST ZNF629 TFE3 NFKBIZ POLR2A TM2D1 lnc-KANK4-7 USP1 piR-52079-011 NFIA
GH01J062356 Enhancer 1.2 FANTOM5 Ensembl ENCODE 23.2 -629.3 -629277 5.8 ZNF629 PRDM1 ZNF501 SCRT2 RBAK ZNF140 ZXDB CEBPB ZEB1 FOS USP1 TM2D1 ENSG00000271200 KANK4 RNU6-371P DOCK7 HSALNG0004061 piR-50443-019
GH01J061048 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10 +671.6 671643 9.6 CEBPG HNRNPL GATAD2A CTCF TEAD4 PRDM10 ZNF629 LEF1 IKZF1 ZNF692 NFIA-AS1 TM2D1 NFIA NFIA-AS2 Hsa-Mir-95-P3-v2_3p-001
GH01J061752 Enhancer 0.8 Ensembl ENCODE 16.3 -28.6 -28578 3.6 GATAD2A SOX13 RCOR2 MNT TCF7 FOXA2 CREM SAP130 ZGPAT PRDM6 TM2D1 RNU6-414P PATJ RNU6-1177P ENSG00000271200 RF00017-228 L1TD1
GH01J061138 Enhancer 1.3 Ensembl ENCODE dbSUPER 9.8 +583.9 583922 5.8 PRDM10 ZNF629 ZNF512 LEF1 IKZF1 ZNF692 JUND FOXA1 PRDM1 ZIC2 NFIA-AS1 NFIA-AS2 TM2D1 lnc-PATJ-2 NFIA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TM2D1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TM2D1

Top Transcription factor binding sites by QIAGEN in the TM2D1 gene promoter:
  • CREB
  • Elk-1
  • GATA-1
  • GATA-6
  • IRF-2
  • Lhx3a
  • LHX3b
  • Nkx2-2
  • Pax-3
  • Pax-4a

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)
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 Structure • Gene Density

RefSeq DNA sequence for TM2D1 Gene

Proteins for TM2D1 Gene

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  • 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

Protein Expression for TM2D1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TM2D1 Gene

  • N-glycosylated.
  • Glycosylation at Asn72, Asn87, Asn96, and Asn197
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • TM2D1_HUMAN (1813)

Other Protein References for TM2D1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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:
  • Beta-amyloid-binding protein (TM2D1_HUMAN)

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

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  1. Animal Model
  2. CRISPR
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  6. Cell Line

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 21873635
GO:0004930 G protein-coupled receptor activity IBA 21873635
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

  • Taconic Biosciences Mouse Models for TM2D1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TM2D1

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
nucleus 4
plasma membrane 3
mitochondrion 2
endoplasmic reticulum 1
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
See all subcellular structures

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

PathCards logo

SuperPathways for TM2D1 Gene

No Data Available

Interacting Proteins for TM2D1 Gene

STRING Interaction Network Preview (showing top 4 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000475700 Q9BX74-TM2D1_HUMAN for TM2D1 Gene via STRING IID

GPS-Prot Interaction Network for TM2D1

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 IEA --
GO:0097190 apoptotic signaling pathway IBA 21873635
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

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  1. Drug
No Compound Related Data Available

Transcripts for TM2D1 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for TM2D1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
12 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 TM2D1

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

Expression for TM2D1 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TM2D1 Gene

mRNA expression in normal human tissues for TM2D1 Gene
mRNA expression by GTEx for TM2D1 GenemRNA expression by BioGPS 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 and MOPED for TM2D1 Gene



Protein tissue co-expression partners for TM2D1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(3.8)
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 30 31
  • 99.68 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia TM2D1 31
  • 97 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TM2D1 31
  • 92 (a)
 OneToOne
LOC479551 30
  • 91.3 (n)
Cow
(Bos Taurus)
 Mammalia TM2D1 30 31
  • 89.27 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Tm2d1 30 17 31
  • 85.67 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Tm2d1 30
  • 84.86 (n)
Chicken
(Gallus gallus)
 Aves TM2D1 30 31
  • 72.53 (n)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia tm2d1 30
  • 68.46 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.16476 30
Zebrafish
(Danio rerio)
 Actinopterygii tm2d1 30 31
  • 64.86 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP007485 30
  • 51.63 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG10795 30 31
  • 50 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea Y66D12A.21 30 31
  • 48.82 (n)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.6883 31
  • 49 (a)
 OneToOne
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.8088 30
Species where no ortholog for TM2D1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for TM2D1: view image

Paralogs for TM2D1 Gene

Paralogs for TM2D1 Gene

(59) SIMAP similar genes for TM2D1 Gene using alignment to 7 proteins:

  • TM2D1_HUMAN
  • J3KPA2_HUMAN
  • U3KPS6_HUMAN
  • U3KPW4_HUMAN
  • U3KQ44_HUMAN
  • U3KQF9_HUMAN
  • U3KQS3_HUMAN

Pseudogenes.org Pseudogenes for TM2D1 Gene

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

Variants for TM2D1 Gene

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Additional dbSNP identifiers (rs#s) for TM2D1 Gene

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

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

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

SNP Genotyping and Copy Number Assay Products

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 TM2D1 Gene

Disorders for TM2D1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
alzheimer disease
  • ad
mast syndrome
  • spastic paraplegia 21, autosomal recessive; spg21
chromosome 1p36 deletion syndrome
  • monosomy 1p36 syndrome
- 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

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 23
  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
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  4. Ubiquitin-mediated proteolysis of HuR by heat shock. (PMID: 19322201) Abdelmohsen K … Gorospe M (The EMBO journal 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

ExternalLinks

View latest publications for TM2D1 gene in Mastermind

Products for TM2D1 Gene

  • Signalway ELISA kits for TM2D1

Sources for TM2D1 Gene