TM2D1 TM2 domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TM2D1provided by HGNC
Official Full Name: TM2 domain containing 1provided by HGNC
Primary source: HGNC:HGNC:24142
See related: Ensembl:ENSG00000162604 MIM:610080
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: BBP
Summary: 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]
Expression: Ubiquitous expression in thyroid (RPKM 16.4), adrenal (RPKM 15.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p31.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
109.20210514	current	GRCh38.p13 (GCF_000001405.39)	1	NC_000001.11 (61681046..61725141, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (62146718..62190813, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A two-electrode voltage-clamp technique is used to determine that BBP is not directly coupled to G alpha(i/o), G alpha(s), or G alpha(q) proteins and that BBP may need a component other than amyloid precursor protein to exert its toxic effect with A beta.
Title: Beta-amyloid peptide binding protein does not couple to G protein in a heterologous Xenopus expression system.
sAPP increased the proportion of migrating keratinocytes and their directional persistence. sAPP appeared to operate synergistically with fibronectin with respect to its motogenic effect.
Title: The secretory beta-amyloid precursor protein is a motogen for human epidermal keratinocytes.
These findings reveal that low density lipoprotein receptor-related protein 1B is a novel binding partner of beta-amyloid precursor protein (APP) that functions to decrease APP processing to amyloid beta peptides.
Title: The low density lipoprotein receptor-related protein 1B retains beta-amyloid precursor protein at the cell surface and reduces amyloid-beta peptide production.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S2193 (e-PCR)
- UniSTS:64786

SHGC-74894 (e-PCR)
- UniSTS:22550

D1S1423 (e-PCR)
- UniSTS:149619

SHGC-74933 (e-PCR)
- UniSTS:66166

D1S2501E (e-PCR)
- UniSTS:154023

D10S1624 (e-PCR)
- UniSTS:42938

RH92344 (e-PCR)
- UniSTS:89793

Homology

Homologs of the TM2D1 gene: The TM2D1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, and frog.
Orthologs from Annotation Pipeline: 294 organisms have orthologs with human gene TM2D1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables amyloid-beta binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in apoptotic signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
located_in integral component of plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: TM2 domain-containing protein 1

Names: Beta-amyloid peptide binding protein; amyloid-beta-binding protein; beta-amyloid-binding protein; hBBP

NCBI Reference Sequences (RefSeq)

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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)

NM_032027.3 → NP_114416.1 TM2 domain-containing protein 1 precursor

See identical proteins and their annotated locations for NP_114416.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the protein-coding transcript.

Source sequence(s)

AC099791

Consensus CDS

CCDS65554.1

UniProtKB/Swiss-Prot

Q9BX74

Related

ENSP00000475700.1, ENST00000606498.5

Conserved Domains (1) summary

pfam05154
Location:117 → 166

TM2; TM2 domain

RNA

NR_135160.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC099791, AF353990, AK311705, BC029486, BG700625
NR_135161.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC099791, AF353990, AI168073, AK311705, BC029486
NR_135162.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses two alternate splice junctions and contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC099791, AF353990, AK311705, BC029486, BU664262