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

Gene ID: 83877, updated on 9-Feb-2020

Summary

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
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

Genomic context

See TM2D2 in Genome Data Viewer
Location:
8p11.22
Exon count:
5
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (38988808..38997139, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (38846327..38854335, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene pleckstrin homology domain containing A2 Neighboring gene HtrA serine peptidase 4 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

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC125813, MGC125814

Gene Ontology Provided by GOA

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

General protein information

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

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_001024380.2NP_001019551.1  TM2 domain-containing protein 2 isoform b

    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:103152
    TM2; TM2 domain
  2. NM_001024381.2NP_001019552.1  TM2 domain-containing protein 2 isoform b

    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:103152
    TM2; TM2 domain
  3. NM_031940.4NP_114146.3  TM2 domain-containing protein 2 isoform b

    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:103152
    TM2; TM2 domain
  4. NM_078473.3NP_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
    Q9BX73
    Related
    ENSP00000416050.2, ENST00000456397.7
    Conserved Domains (1) summary
    pfam05154
    Location:146195
    TM2; TM2 domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    38988808..38997139 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544667.2XP_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:103152
    TM2; TM2 domain
  2. XM_005273657.3XP_005273714.1  TM2 domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005273714.1

    UniProtKB/Swiss-Prot
    Q9BX73
    Conserved Domains (1) summary
    pfam05154
    Location:103152
    TM2; TM2 domain
  3. XM_006716408.4XP_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:103152
    TM2; TM2 domain
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