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    TMEM88 transmembrane protein 88 [ Homo sapiens (human) ]

    Gene ID: 92162, updated on 8-Dec-2018

    Summary

    Official Symbol
    TMEM88provided by HGNC
    Official Full Name
    transmembrane protein 88provided by HGNC
    Primary source
    HGNC:HGNC:32371
    See related
    Ensembl:ENSG00000167874 MIM:617813
    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
    Expression
    Broad expression in fat (RPKM 7.7), placenta (RPKM 7.1) and 23 other tissues See more
    Orthologs

    Genomic context

    See TMEM88 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (7854886..7856099)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7758181..7759417)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene dynein axonemal heavy chain 2 Neighboring gene uncharacterized LOC105371516 Neighboring gene uncharacterized LOC107987244 Neighboring gene lysine demethylase 6B Neighboring gene cytochrome b5 domain containing 1 Neighboring gene N(alpha)-acetyltransferase 38, NatC auxiliary subunit Neighboring gene chromodomain helicase DNA binding protein 3 Neighboring gene small Cajal body-specific RNA 21

    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

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    NHGRI GWA Catalog

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ20025, MGC71744

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    PDZ domain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    PDZ domain binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein localization to plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    protein stabilization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    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_001319941.1NP_001306870.1  transmembrane protein 88 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC104581
      Consensus CDS
      CCDS82058.1
      UniProtKB/TrEMBL
      I3L2J3
      Related
      ENSP00000459725.1, ENST00000574668.1
    2. NM_203411.1NP_981956.1  transmembrane protein 88 isoform 1

      See identical proteins and their annotated locations for NP_981956.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC057812
      Consensus CDS
      CCDS11121.1
      UniProtKB/Swiss-Prot
      Q6PEY1
      Related
      ENSP00000301599.6, ENST00000301599.6

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

      Range
      7854886..7856099
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005256856.3XP_005256913.1  transmembrane protein 88 isoform X1

      See identical proteins and their annotated locations for XP_005256913.1

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