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TMEM64 transmembrane protein 64 [ Homo sapiens (human) ]

Gene ID: 169200, updated on 17-Jun-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
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Genomic context

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See TMEM64 in Genome Data Viewer
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.

Chemical Information
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