The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or p... See more...

Aliases for TM2D2 Gene

Aliases for TM2D2 Gene

  • TM2 Domain Containing 2 2 3 5
  • Beta-Amyloid-Binding Protein-Like Protein 1 3 4
  • TM2 Domain-Containing Protein 2 3 4
  • BBP-Like Protein 1 3 4
  • BLP1 3 4

External Ids for TM2D2 Gene

Previous GeneCards Identifiers for TM2D2 Gene

  • GC08M038968
  • GC08M038846
  • GC08M037379

Summaries for TM2D2 Gene

Entrez Gene Summary for TM2D2 Gene

  • The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. This gene has multiple alternatively spliced transcript variants which encode two different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for TM2D2 Gene

TM2D2 (TM2 Domain Containing 2) is a Protein Coding gene. Diseases associated with TM2D2 include Cone-Rod Dystrophy 9 and Lung Carcinoma In Situ. An important paralog of this gene is TM2D3.

Additional gene information for TM2D2 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TM2D2 Gene

Genomics for TM2D2 Gene

GeneHancer (GH) Regulatory Elements for TM2D2 Gene

Promoters and enhancers for TM2D2 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 TM2D2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TM2D2

Top Transcription factor binding sites by QIAGEN in the TM2D2 gene promoter:
  • AML1a
  • deltaCREB
  • FOXD3
  • FOXI1
  • FOXL1
  • HFH-3
  • POU3F2
  • SRF
  • SRF (504 AA)

Genomic Locations for TM2D2 Gene

Genomic Locations for TM2D2 Gene
chr8:38,988,808-38,996,824
(GRCh38/hg38)
Size:
8,017 bases
Orientation:
Minus strand
chr8:38,846,327-38,854,343
(GRCh37/hg19)
Size:
8,017 bases
Orientation:
Minus strand

Genomic View for TM2D2 Gene

Genes around TM2D2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TM2D2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TM2D2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TM2D2 Gene

Proteins for TM2D2 Gene

  • Protein details for TM2D2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BX73-TM2D2_HUMAN
    Recommended name:
    TM2 domain-containing protein 2
    Protein Accession:
    Q9BX73
    Secondary Accessions:
    • B2RBK4
    • D3DSX8
    • Q8N0X9

    Protein attributes for TM2D2 Gene

    Size:
    214 amino acids
    Molecular mass:
    22871 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TM2D2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TM2D2 Gene

Post-translational modifications for TM2D2 Gene

  • Glycosylation at Asn92

No data available for DME Specific Peptides for TM2D2 Gene

Domains & Families for TM2D2 Gene

Gene Families for TM2D2 Gene

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

Protein Domains for TM2D2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TM2D2 Gene

GenScript: Design optimal peptide antigens:
  • Beta-amyloid-binding protein-like protein 1 (TM2D2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BX73

UniProtKB/Swiss-Prot:

TM2D2_HUMAN :
  • Belongs to the TM2 family.
Family:
  • Belongs to the TM2 family.
genes like me logo Genes that share domains with TM2D2: view

Function for TM2D2 Gene

Phenotypes From GWAS Catalog for TM2D2 Gene

genes like me logo Genes that share phenotypes with TM2D2: view

Animal Model Products

CRISPR Products

miRNA for TM2D2 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TM2D2

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TM2D2 Gene

Localization for TM2D2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TM2D2 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 TM2D2 gene
Compartment Confidence
plasma membrane 3
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TM2D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TM2D2: view

Pathways & Interactions for TM2D2 Gene

PathCards logo

SuperPathways for TM2D2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TM2D2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TM2D2 Gene

Drugs & Compounds for TM2D2 Gene

No Compound Related Data Available

Transcripts for TM2D2 Gene

mRNA/cDNA for TM2D2 Gene

4 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
10 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 TM2D2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TM2D2 Gene

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

Relevant External Links for TM2D2 Gene

GeneLoc Exon Structure for
TM2D2

Expression for TM2D2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TM2D2 Gene

Protein differential expression in normal tissues from HIPED for TM2D2 Gene

This gene is overexpressed in Heart (43.7), Fetal testis (8.7), and Testis (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TM2D2 Gene



Protein tissue co-expression partners for TM2D2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TM2D2

SOURCE GeneReport for Unigene cluster for TM2D2 Gene:

Hs.7471

mRNA Expression by UniProt/SwissProt for TM2D2 Gene:

Q9BX73-TM2D2_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for TM2D2 Gene

  • Pancreas(4.3)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with TM2D2: 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 TM2D2 Gene

Orthologs for TM2D2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TM2D2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TM2D2 31 30
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TM2D2 31 30
  • 91.9 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TM2D2 31 30
  • 89.56 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tm2d2 30
  • 83.88 (n)
mouse
(Mus musculus)
Mammalia Tm2d2 17 31 30
  • 83.72 (n)
oppossum
(Monodelphis domestica)
Mammalia TM2D2 31
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TM2D2 31
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves TM2D2 31 30
  • 70.35 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TM2D2 31
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tm2d2 30
  • 66.84 (n)
zebrafish
(Danio rerio)
Actinopterygii tm2d2 31 30
  • 65.85 (n)
OneToOne
Dr.16550 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002821 30
  • 58.11 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11103 31 30
  • 56.43 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C02F5.13 31 30
  • 54.14 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea Cin.8437 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8437 30
Species where no ortholog for TM2D2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 TM2D2 Gene

ENSEMBL:
Gene Tree for TM2D2 (if available)
TreeFam:
Gene Tree for TM2D2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TM2D2: view image

Paralogs for TM2D2 Gene

Paralogs for TM2D2 Gene

genes like me logo Genes that share paralogs with TM2D2: view

Variants for TM2D2 Gene

Additional dbSNP identifiers (rs#s) for TM2D2 Gene

Structural Variations from Database of Genomic Variants (DGV) for TM2D2 Gene

Variant ID Type Subtype PubMed ID
nsv820251 CNV loss 19587683

Variation tolerance for TM2D2 Gene

Residual Variation Intolerance Score: 48.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.94; 19.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TM2D2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TM2D2

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 TM2D2 Gene

Disorders for TM2D2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TM2D2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cone-rod dystrophy 9
  • retinitis pigmentosa 9
lung carcinoma in situ
cone-rod dystrophy 6
  • retinitis pigmentosa 6
- elite association - COSMIC cancer census association via MalaCards
Search TM2D2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TM2D2

genes like me logo Genes that share disorders with TM2D2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TM2D2 Gene

Publications for TM2D2 Gene

  1. 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 54
  2. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. (PMID: 29676528) Khanna R … Parnaik VK (The FEBS journal 2018) 3 54
  3. ΔNp63α Suppresses TGFB2 Expression and RHOA Activity to Drive Cell Proliferation in Squamous Cell Carcinomas. (PMID: 30232004) Abraham CG … Espinosa JM (Cell reports 2018) 3 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4 54

Products for TM2D2 Gene

Sources for TM2D2 Gene