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TM2D2 TM2 domain containing 2 [ Homo sapiens (human) ]

Gene ID: 83877, updated on 17-Jun-2024

Summary

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Official Symbol
TM2D2provided by HGNC
Official Full Name
TM2 domain containing 2provided by HGNC
Primary source
HGNC:HGNC:24127
See related
Ensembl:ENSG00000169490 MIM:610081; AllianceGenome:HGNC:24127
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BLP1
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. This gene has multiple alternatively spliced transcript variants which encode two different isoforms. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in placenta (RPKM 10.1), kidney (RPKM 10.0) and 25 other tissues See more
Orthologs
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Genomic context

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See TM2D2 in Genome Data Viewer
Location:
8p11.22
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (38988808..38996990, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (39265950..39274132, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (38846327..38854028, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901937 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27267 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38771665-38772346 Neighboring gene pleckstrin homology domain containing A2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38793869-38794549 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38794550-38795229 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27270 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27271 Neighboring gene Sharpr-MPRA regulatory region 15086 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38853156-38853678 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:38853679-38854200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27275 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19140 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27276 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27277 Neighboring gene HtrA serine peptidase 4 Neighboring gene Sharpr-MPRA regulatory region 279 Neighboring gene ADAM metallopeptidase domain 9 Neighboring gene small nucleolar RNA, C/D box 38D Neighboring gene ADAM metallopeptidase domain 32 Neighboring gene ribosomal protein L3 pseudogene 10

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. beta -Amyloid peptide-induced apoptosis regulated by a novel protein containing a g protein activation module. Kajkowski EM, et al. J Biol Chem, 2001 Jun 1. PMID 11278849
  2. ΔNp63α Suppresses TGFB2 Expression and RHOA Activity to Drive Cell Proliferation in Squamous Cell Carcinomas. Abraham CG, et al. Cell Rep, 2018 Sep 18. PMID 30232004, Free PMC Article
  3. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. Otsuki T, et al. DNA Res, 2005. PMID 16303743
  4. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528
  5. Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism. Antoniali G, et al. Nat Commun, 2017 Oct 6. PMID 28986522, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC125813, MGC125814

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
TM2 domain-containing protein 2
Names
BBP-like protein 1
beta-amyloid-binding protein-like protein 1

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)

  1. NM_001024380.2 → NP_001019551.1  TM2 domain-containing protein 2 isoform b precursor

    See identical proteins and their annotated locations for NP_001019551.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter and has a distinct N-terminus compared to isoform a. Variants 2, 3, and 4 all encode isoform b.
    Source sequence(s)
    AC108863, AK075027, BG424960
    Consensus CDS
    CCDS43733.1
    UniProtKB/Swiss-Prot
    Q9BX73
    Conserved Domains (1) summary
    pfam05154
    Location:103 → 152
    TM2; TM2 domain

  2. NM_001024381.2 → NP_001019552.1  TM2 domain-containing protein 2 isoform b precursor

    See identical proteins and their annotated locations for NP_001019552.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter and has a distinct N-terminus compared to isoform a. Variants 2, 3, and 4 all encode isoform b.
    Source sequence(s)
    AC108863, AL834224, BG424960
    Consensus CDS
    CCDS43733.1
    UniProtKB/Swiss-Prot
    Q9BX73
    Related
    ENSP00000391674.2, ENST00000456845.6
    Conserved Domains (1) summary
    pfam05154
    Location:103 → 152
    TM2; TM2 domain

  3. NM_031940.4 → NP_114146.3  TM2 domain-containing protein 2 isoform b precursor

    See identical proteins and their annotated locations for NP_114146.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter and has a distinct N-terminus compared to isoform a. Variants 2, 3, and 4 all encode isoform b.
    Source sequence(s)
    AC108863, AK075027, BG424960
    Consensus CDS
    CCDS43733.1
    UniProtKB/Swiss-Prot
    Q9BX73
    Related
    ENSP00000380260.2, ENST00000397070.6
    Conserved Domains (1) summary
    pfam05154
    Location:103 → 152
    TM2; TM2 domain

  4. NM_078473.3 → NP_510882.1  TM2 domain-containing protein 2 isoform a precursor

    See identical proteins and their annotated locations for NP_510882.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AC108863, AF353991, BG424960
    Consensus CDS
    CCDS6111.1
    UniProtKB/Swiss-Prot
    B2RBK4, D3DSX8, Q8N0X9, Q9BX73
    Related
    ENSP00000416050.2, ENST00000456397.7
    Conserved Domains (1) summary
    pfam05154
    Location:146 → 195
    TM2; TM2 domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    38988808..38996990 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544667.3 → XP_011542969.1  TM2 domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011542969.1

    UniProtKB/Swiss-Prot
    Q9BX73
    Conserved Domains (1) summary
    pfam05154
    Location:103 → 152
    TM2; TM2 domain

  2. XM_006716408.5 → XP_006716471.1  TM2 domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_006716471.1

    UniProtKB/Swiss-Prot
    Q9BX73
    Conserved Domains (1) summary
    pfam05154
    Location:103 → 152
    TM2; TM2 domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    39265950..39274132 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054361339.1 → XP_054217314.1  TM2 domain-containing protein 2 isoform X1

  2. XM_054361340.1 → XP_054217315.1  TM2 domain-containing protein 2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BX73.1 GenPept UniProtKB/Swiss-Prot:Q9BX73

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