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    TMEM87B transmembrane protein 87B [ Homo sapiens (human) ]

    Gene ID: 84910, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TMEM87Bprovided by HGNC
    Official Full Name
    transmembrane protein 87Bprovided by HGNC
    Primary source
    HGNC:HGNC:25913
    See related
    Ensembl:ENSG00000153214 MIM:617203; AllianceGenome:HGNC:25913
    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
    Summary
    This gene encodes a protein that may interact with human papillomavirus type 18 E6 oncogene. The protein is also likely to be involved in endosome-to-trans-Golgi network retrograde transport. The gene is expressed in adult and fetal tissues, including brain and heart. This gene is a component of the 2q13 deletion syndrome. Mutations in this gene may be associated with congenital heart defects. [provided by RefSeq, Aug 2016]
    Expression
    Ubiquitous expression in prostate (RPKM 18.0), colon (RPKM 17.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM87B in Genome Data Viewer
    Location:
    2q13
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (112055269..112119314)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (112482241..112546253)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (112812846..112876891)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene MER proto-oncogene, tyrosine kinase Neighboring gene RTRAF pseudogene 1 Neighboring gene SLC30A6 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 3720 Neighboring gene Sharpr-MPRA regulatory region 10261 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11868 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11869 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16389 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:112818151-112818365 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:112897779-112898492 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:112914115-112914944 Neighboring gene NANOG hESC enhancer GRCh37_chr2:112925881-112926394 Neighboring gene fibulin 7 Neighboring gene zinc finger CCCH-type containing 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11870 Neighboring gene CRISPRi-validated cis-regulatory element chr2.4107 Neighboring gene uncharacterized LOC124906182

    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 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. A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms. Hladilkova E, et al. Mol Cytogenet, 2015. PMID 26236398, Free PMC Article
    2. Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes. Riley KN, et al. Am J Med Genet A, 2015 Nov. PMID 26227573
    3. Expression of TMEM87B interacting with the human papillomavirus type 18 E6 oncogene in the Hela cDNA library by a yeast two-hybrid system. Li S, et al. Oncol Rep, 2008 Aug. PMID 18636207
    4. Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. Yu HC, et al. Cold Spring Harb Mol Case Stud, 2016 May. PMID 27148590, Free PMC Article
    5. Post-Golgi anterograde transport requires GARP-dependent endosome-to-TGN retrograde transport. Hirata T, et al. Mol Biol Cell, 2015 Sep 1. PMID 26157166, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Heterozygous loss of FBLN7 and TMEM87B account for some of the clinical features, including cardiac defects and craniofacial abnormalities associated with 2q13 deletion syndrome.
      Title: Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.
    Submit: New GeneRIF Correction

    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

    • FLJ14681

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in retrograde transport, endosome to Golgi IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within retrograde transport, endosome to Golgi IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 87B

    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.

    Genomic

    1. NG_051358.1 RefSeqGene

      Range
      5047..69092
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001329914.2 → NP_001316843.1  transmembrane protein 87B isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon and contains an additional alternate exon, compared to variant 1. It encodes isoform 2, which is of the same length, but differs in sequence, compared to isoform 1.
      Source sequence(s)
      AC092645, AC093675
      Consensus CDS
      CCDS92843.1
      UniProtKB/TrEMBL
      A0A494BZZ8, H7C0B3
      Related
      ENSP00000498298.2, ENST00000650799.2
      Conserved Domains (1) summary
      pfam06814
      Location:174 → 458
      Lung_7-TM_R; Lung seven transmembrane receptor

    2. NM_032824.3 → NP_116213.1  transmembrane protein 87B isoform 1 precursor

      See identical proteins and their annotated locations for NP_116213.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC092645, AI806006, AK027587, AK074243, DA550235
      Consensus CDS
      CCDS33275.1
      UniProtKB/Swiss-Prot
      A8K2M9, Q1RLN2, Q53R54, Q96K49
      UniProtKB/TrEMBL
      H7C0B3
      Related
      ENSP00000283206.4, ENST00000283206.9
      Conserved Domains (1) summary
      pfam06814
      Location:174 → 458
      Lung_7-TM_R; Lung seven transmembrane receptor

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      112055269..112119314
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005263827.3 → XP_005263884.1  transmembrane protein 87B isoform X1

      See identical proteins and their annotated locations for XP_005263884.1

      UniProtKB/TrEMBL
      H7C0B3
      Conserved Domains (1) summary
      pfam06814
      Location:173 → 457
      Lung_7-TM_R; Lung seven transmembrane receptor

    RNA

    1. XR_923049.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      112482241..112546253
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344246.1 → XP_054200221.1  transmembrane protein 87B isoform X1

    RNA

    1. XR_008486569.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96K49.1 GenPept UniProtKB/Swiss-Prot:Q96K49

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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