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    TMEM64 transmembrane protein 64 [ Homo sapiens (human) ]

    Gene ID: 169200, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TMEM64provided by HGNC
    Official Full Name
    transmembrane protein 64provided by HGNC
    Primary source
    HGNC:HGNC:25441
    See related
    Ensembl:ENSG00000180694 MIM:620429; AllianceGenome:HGNC:25441
    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 be involved in negative regulation of canonical Wnt signaling pathway; negative regulation of osteoblast differentiation; and positive regulation of fat cell differentiation. Predicted to act upstream of or within several processes, including positive regulation of bone resorption; positive regulation of osteoclast differentiation; and regulation of ATPase activity. Predicted to be located in endoplasmic reticulum. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 12.6), fat (RPKM 10.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    8q21.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (90621995..90646083, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (91746004..91770093, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (91634223..91658311, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901975 Neighboring gene Sharpr-MPRA regulatory region 14354 Neighboring gene RNA, 5S ribosomal pseudogene 273 Neighboring gene NANOG hESC enhancer GRCh37_chr8:91581326-91581827 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:91591610-91592572 Neighboring gene long intergenic non-protein coding RNA 1030 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27613 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19351 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19352 Neighboring gene translation initiation factor IF-2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:91678635-91679135 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:91695833-91696820 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:91696821-91697808 Neighboring gene uncharacterized LOC105375633 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:91712756-91713256 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:91713257-91713757 Neighboring gene N-terminal EF-hand calcium binding protein 1

    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. Altered Levels of mRNAs for Calcium-Binding/Associated Proteins, Annexin A1, S100A4, and TMEM64, in Peripheral Blood Mononuclear Cells Are Associated with Osteoporosis. Dera AA, et al. Dis Markers, 2019. PMID 31814858, Free PMC Article
    2. Tmem64 modulates calcium signaling during RANKL-mediated osteoclast differentiation. Kim H, et al. Cell Metab, 2013 Feb 5. PMID 23395171, Free PMC Article
    3. Importin 8 is a gene silencing factor that targets argonaute proteins to distinct mRNAs. Weinmann L, et al. Cell, 2009 Feb 6. PMID 19167051
    4. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
    5. The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation. Faust TB, et al. Elife, 2018 May 30. PMID 29845934, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. [TMEM64 is highly expressed in hepatocellular carcinoma and promotes tumor cell proliferation and invasion].
      Title: [TMEM64 is highly expressed in hepatocellular carcinoma and promotes tumor cell proliferation and invasion].
    2. Low TMEM64 expression is associated with Osteoporosis.
      Title: Altered Levels of mRNAs for Calcium-Binding/Associated Proteins, Annexin A1, S100A4, and TMEM64, in Peripheral Blood Mononuclear Cells Are Associated with Osteoporosis.
    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

    • DKFZp762C1112

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in negative regulation of canonical Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of osteoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in osteoclast differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of bone resorption IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of osteoclast differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cytosolic calcium ion concentration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 64

    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_001008495.4 → NP_001008495.2  transmembrane protein 64 isoform 1

      See identical proteins and their annotated locations for NP_001008495.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB015752, AC106038
      Consensus CDS
      CCDS34920.2
      UniProtKB/Swiss-Prot
      B4DUC0, F5GXM4, Q2HIZ7, Q6YI46, Q8N3G6
      Related
      ENSP00000414786.2, ENST00000458549.7
      Conserved Domains (1) summary
      COG0398
      Location:123 → 294
      TVP38; Uncharacterized membrane protein YdjX, TVP38/TMEM64 family, SNARE-associated domain [Function unknown]

    2. NM_001146273.1 → NP_001139745.1  transmembrane protein 64 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AA044031, AB015752, AC106038, AK300583
      Consensus CDS
      CCDS55260.1
      UniProtKB/Swiss-Prot
      Q6YI46
      Related
      ENSP00000411951.2, ENST00000418210.2
      Conserved Domains (1) summary
      COG0398
      Location:123 → 277
      TVP38; Uncharacterized membrane protein YdjX, TVP38/TMEM64 family, SNARE-associated domain [Function unknown]

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      90621995..90646083 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      91746004..91770093 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6YI46.2 GenPept UniProtKB/Swiss-Prot:Q6YI46

    Gene LinkOut

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

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