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Aliases for TM2D3 Gene

Aliases for TM2D3 Gene

  • TM2 Domain Containing 3 2 3 5
  • Beta-Amyloid-Binding Protein-Like Protein 2 3 4
  • BBP-Like Protein 2 3 4
  • BLP2 3 4
  • TM2 Domain-Containing Protein 3 3

External Ids for TM2D3 Gene

Previous GeneCards Identifiers for TM2D3 Gene

  • GC15M100000
  • GC15M102173
  • GC15M078305

Summaries for TM2D3 Gene

Entrez Gene Summary for TM2D3 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. Several alternatively spliced transcript variants of this gene are described but the full length nature of some variants has not been determined. Multiple polyadenylation sites have been found in this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for TM2D3 Gene

TM2D3 (TM2 Domain Containing 3) is a Protein Coding gene. An important paralog of this gene is TM2D1.

Additional gene information for TM2D3 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TM2D3 Gene

Genomics for TM2D3 Gene

Regulatory Elements for TM2D3 Gene

Enhancers for TM2D3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H101650 1.4 ENCODE dbSUPER 31.6 +0.1 124 2 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 TM2D3 TARSL2 RNU6-807P
GH15H101640 1.4 Ensembl ENCODE dbSUPER 28.7 +10.4 10398 2 ELF3 PKNOX1 SIN3A ARID4B KLF17 ZNF2 RAD21 RFX5 ZNF143 DEK TM2D3 TARSL2 LOC100128108 SNRPA1 SELENOS RNU6-807P LINC02348
GH15H101445 2 FANTOM5 Ensembl ENCODE dbSUPER 13.1 +206.0 206018 2 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B DMAP1 YY1 SLC30A9 ZNF766 SNRPA1 PRKXP1 TM2D3 LINS1 LOC100419174 ASB7 ENSG00000270127 WASH3P PCSK6 CHSY1
GH15H101197 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13.3 +448.1 448149 14 HDGF PKNOX1 FOXA2 SIN3A FEZF1 TCF12 GATA2 ZNF143 FOS ATF7 CHSY1 SNRPA1 LOC100419174 LINS1 PRKXP1 TM2D3 WASH3P ASB7 LRRK1 GC15M101194
GH15H101454 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12 +196.4 196435 2 HDAC1 FOXA2 PKNOX1 YY1 RCOR1 ATF7 CREM USF2 ZEB2 NR2F2 PCSK6 TM2D3 CHSY1 PIR54076 LOC105371028
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TM2D3 on UCSC Golden Path with GeneCards custom track

Promoters for TM2D3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000082069 191 2001 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Location for TM2D3 Gene

Chromosome:
15
Start:
101,621,444 bp from pter
End:
101,652,391 bp from pter
Size:
30,948 bases
Orientation:
Minus strand

Genomic View for TM2D3 Gene

Genes around TM2D3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TM2D3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TM2D3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TM2D3 Gene

Proteins for TM2D3 Gene

  • Protein details for TM2D3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BRN9-TM2D3_HUMAN
    Recommended name:
    TM2 domain-containing protein 3
    Protein Accession:
    Q9BRN9
    Secondary Accessions:
    • B2RDK9
    • Q9H046
    • Q9H651

    Protein attributes for TM2D3 Gene

    Size:
    247 amino acids
    Molecular mass:
    27118 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TM2D3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TM2D3 Gene

Post-translational modifications for TM2D3 Gene

  • Glycosylation at posLast=4646, posLast=8787, Asn140, Asn157, and posLast=169169
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TM2D3 Gene

Domains & Families for TM2D3 Gene

Gene Families for TM2D3 Gene

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

Protein Domains for TM2D3 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9BRN9

UniProtKB/Swiss-Prot:

TM2D3_HUMAN :
  • Belongs to the TM2 family.
Family:
  • Belongs to the TM2 family.
genes like me logo Genes that share domains with TM2D3: view

Function for TM2D3 Gene

Phenotypes From GWAS Catalog for TM2D3 Gene

Phenotypes for TM2D3 Gene

genes like me logo Genes that share phenotypes with TM2D3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TM2D3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TM2D3 Gene

Localization for TM2D3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TM2D3 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 TM2D3 gene
Compartment Confidence
plasma membrane 2
extracellular 2
nucleus 2
cytosol 2
mitochondrion 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TM2D3 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 TM2D3: view

Pathways & Interactions for TM2D3 Gene

SuperPathways for TM2D3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TM2D3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TM2D3 Gene

Drugs & Compounds for TM2D3 Gene

No Compound Related Data Available

Transcripts for TM2D3 Gene

Unigene Clusters for TM2D3 Gene

TM2 domain containing 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TM2D3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TM2D3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c
SP1: - - - - - -
SP2: - - - - - - -
SP3: - -
SP4: -
SP5: - - - - -
SP6: - - -
SP7: - -
SP8: - - - -
SP9:

Relevant External Links for TM2D3 Gene

GeneLoc Exon Structure for
TM2D3
ECgene alternative splicing isoforms for
TM2D3

Expression for TM2D3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TM2D3 Gene

Protein differential expression in normal tissues from HIPED for TM2D3 Gene

This gene is overexpressed in Heart (68.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TM2D3 Gene



Protein tissue co-expression partners for TM2D3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TM2D3 Gene:

TM2D3

SOURCE GeneReport for Unigene cluster for TM2D3 Gene:

Hs.288912

mRNA Expression by UniProt/SwissProt for TM2D3 Gene:

Q9BRN9-TM2D3_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for TM2D3 Gene

  • Nervous system(4.5)
  • Intestine(4.3)
  • Lymph node(4.3)
  • Muscle(4.3)
genes like me logo Genes that share expression patterns with TM2D3: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TM2D3 Gene

Orthologs for TM2D3 Gene

This gene was present in the common ancestor of animals.

Orthologs for TM2D3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TM2D3 33 34
  • 98.65 (n)
dog
(Canis familiaris)
Mammalia TM2D3 33 34
  • 88.39 (n)
rat
(Rattus norvegicus)
Mammalia Tm2d3 33
  • 85.56 (n)
mouse
(Mus musculus)
Mammalia Tm2d3 33 16 34
  • 84.89 (n)
cow
(Bos Taurus)
Mammalia TM2D3 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TM2D3 34
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TM2D3 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves TM2D3 33 34
  • 73.89 (n)
lizard
(Anolis carolinensis)
Reptilia TM2D3 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tm2d3 33
  • 68.73 (n)
Str.3843 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.19592 33
zebrafish
(Danio rerio)
Actinopterygii tm2d3 33 34
  • 65.04 (n)
fruit fly
(Drosophila melanogaster)
Insecta amx 33 34
  • 56.7 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006109 33
  • 56.18 (n)
worm
(Caenorhabditis elegans)
Secernentea C41D11.9 33 34
  • 50.21 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6955 34
  • 70 (a)
OneToOne
Species where no ortholog for TM2D3 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)
  • 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 TM2D3 Gene

ENSEMBL:
Gene Tree for TM2D3 (if available)
TreeFam:
Gene Tree for TM2D3 (if available)

Paralogs for TM2D3 Gene

Paralogs for TM2D3 Gene

Pseudogenes.org Pseudogenes for TM2D3 Gene

genes like me logo Genes that share paralogs with TM2D3: view

Variants for TM2D3 Gene

Sequence variations from dbSNP and Humsavar for TM2D3 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1000169868 -- 101,652,474(+) TTTCG(C/T)TGTCC upstream-variant-2KB
rs1000228998 -- 101,636,975(+) ATATG(A/G)GTGAG intron-variant
rs1000245959 -- 101,633,978(+) ACAAA(C/T)AGAAA intron-variant
rs1000315610 -- 101,650,706(+) TATAA(C/T)ATTTA intron-variant
rs1000530524 -- 101,635,304(+) TTAGA(A/G)AAGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TM2D3 Gene

Variant ID Type Subtype PubMed ID
dgv113e55 CNV gain 17911159
dgv2675n100 CNV gain 25217958
dgv2677n100 CNV loss 25217958
dgv2679n100 CNV loss 25217958
dgv2680n100 CNV gain 25217958
dgv4792n54 CNV gain 21841781
esv2761688 CNV gain+loss 21179565
esv3345038 CNV insertion 20981092
esv3581879 CNV loss 25503493
esv3637519 CNV gain 21293372
esv3637520 CNV gain 21293372
esv3892746 CNV gain 25118596
nsv1046557 CNV gain 25217958
nsv1051784 CNV gain 25217958
nsv457293 CNV gain 19166990
nsv528761 CNV gain 19592680
nsv570905 CNV gain 21841781
nsv570906 CNV loss 21841781

Variation tolerance for TM2D3 Gene

Residual Variation Intolerance Score: 67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.90; 35.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TM2D3 Gene

Human Gene Mutation Database (HGMD)
TM2D3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TM2D3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TM2D3 Gene

Disorders for TM2D3 Gene

Relevant External Links for TM2D3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TM2D3

No disorders were found for TM2D3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TM2D3 Gene

Publications for TM2D3 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 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  4. Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease. (PMID: 27764101) Jakobsdottir J … van Duijn CM (PLoS genetics 2016) 3 60
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60

Products for TM2D3 Gene

Sources for TM2D3 Gene

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