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

    Gene ID: 83877, updated on 27-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (38988808..38996990, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (39265950..39274132, complement)
    RS_2024_09 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)

    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_2024_08

    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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