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TM2D3 TM2 domain containing 3 [ Homo sapiens (human) ]

Gene ID: 80213, updated on 24-Nov-2020

Summary

Official Symbol
TM2D3provided by HGNC
Official Full Name
TM2 domain containing 3provided by HGNC
Primary source
HGNC:HGNC:24128
See related
Ensembl:ENSG00000184277 MIM:610014
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BLP2
Summary
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]
Expression
Ubiquitous expression in brain (RPKM 24.1), ovary (RPKM 18.7) and 25 other tissues See more
Orthologs

Genomic context

See TM2D3 in Genome Data Viewer
Location:
15q26.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (101632977..101652381, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (102173429..102192594, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene small nuclear ribonucleoprotein polypeptide C pseudogene 18 Neighboring gene long intergenic non-protein coding RNA 2348 Neighboring gene RNA, U6 small nuclear 807, pseudogene Neighboring gene threonyl-tRNA synthetase 3 Neighboring gene ubiquitin-conjugating enzyme E2Q2 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
lateral inhibition IGI
Inferred from Genetic Interaction
more info
PubMed 
lateral inhibition ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of Notch signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
spanning component of plasma membrane ISM
Inferred from Sequence Model
more info
PubMed 

General protein information

Preferred Names
TM2 domain-containing protein 3
Names
BBP-like protein 2
almondex homolog
beta-amyloid-binding protein-like protein 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001307960.2NP_001294889.1  TM2 domain-containing protein 3 isoform c precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region and uses an alternate terminal exon compared to variant 1. The encoded isoform (c) is shorter and has a distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC090164, AK297048
    Consensus CDS
    CCDS76795.1
    UniProtKB/TrEMBL
    B4DLL2, E7EPS7
    Related
    ENSP00000402179.2, ENST00000428002.6
  2. NM_001308026.2NP_001294955.1  TM2 domain-containing protein 3 isoform d precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate terminal exon compared to variant 1. The encoded isoform (d) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC090164, AK297048, BM984342, BU595412
    Consensus CDS
    CCDS76796.1
    UniProtKB/TrEMBL
    B4DLL2, H0YNS4
    Related
    ENSP00000454131.1, ENST00000559107.5
  3. NM_025141.4NP_079417.2  TM2 domain-containing protein 3 isoform b precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon within the coding region, but maintains the same reading frame, as compared to variant 1. Thus isoform b lacks an internal fragment of 26 aa compared to isoform a.
    Source sequence(s)
    AC090164, BQ272585
    Consensus CDS
    CCDS10392.1
    UniProtKB/Swiss-Prot
    Q9BRN9
    Related
    ENSP00000327584.3, ENST00000347970.7
    Conserved Domains (1) summary
    pfam05154
    Location:156205
    TM2; TM2 domain
  4. NM_078474.3NP_510883.2  TM2 domain-containing protein 3 isoform a precursor

    See identical proteins and their annotated locations for NP_510883.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the full length isoform.
    Source sequence(s)
    AC090164, BC006150
    Consensus CDS
    CCDS10393.1
    UniProtKB/Swiss-Prot
    Q9BRN9
    Related
    ENSP00000330433.3, ENST00000333202.8
    Conserved Domains (1) summary
    pfam05154
    Location:182231
    TM2; TM2 domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    101632977..101652381 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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