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    TMEM88 transmembrane protein 88 [ Homo sapiens (human) ]

    Gene ID: 92162, updated on 5-Mar-2024

    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; AllianceGenome:HGNC:32371
    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
    Summary
    Predicted to enable PDZ domain binding activity. Involved in negative regulation of canonical Wnt signaling pathway; protein localization to plasma membrane; and protein stabilization. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in fat (RPKM 7.7), placenta (RPKM 7.1) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    17p13.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7855066..7856099)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7760392..7761425)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7758384..7759417)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene translation initiation factor IF-2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8140 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11645 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7742757-7743257 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8143 Neighboring gene lysine demethylase 6B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11646 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8144 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11647 Neighboring gene uncharacterized LOC107987244 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr17:7754177-7755141 and GRCh37_chr17:7755142-7756105 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7756106-7757070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7759303-7759840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11650 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7760574-7761436 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7761437-7762298 Neighboring gene N-alpha-acetyltransferase 38, NatC auxiliary subunit Neighboring gene cytochrome b5 domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11653 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8147 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7792539-7793108 Neighboring gene chromodomain helicase DNA binding protein 3 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:7797066-7798265 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:7806009-7806616 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:7806617-7807223 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 Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20025, MGC71744

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables PDZ domain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables PDZ domain binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_203411.2NP_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, ENST00000301599.7

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      7855066..7856099
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005256856.4XP_005256913.1  transmembrane protein 88 isoform X1

      See identical proteins and their annotated locations for XP_005256913.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      7760392..7761425
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317780.1XP_054173755.1  transmembrane protein 88 isoform X1