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    TMEM164 transmembrane protein 164 [ Homo sapiens (human) ]

    Gene ID: 84187, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TMEM164provided by HGNC
    Official Full Name
    transmembrane protein 164provided by HGNC
    Primary source
    HGNC:HGNC:26217
    See related
    Ensembl:ENSG00000157600 AllianceGenome:HGNC:26217
    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
    Also known as
    bB360B22.3
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in lung (RPKM 5.4), fat (RPKM 5.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM164 in Genome Data Viewer
    Location:
    Xq23
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (110002369..110184251)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (108450198..108632159)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (109245891..109427479)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene acyl-CoA synthetase long chain family member 4 Neighboring gene uncharacterized LOC105373311 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29847 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29848 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:108976221-108976341 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20936 Neighboring gene Sharpr-MPRA regulatory region 2605 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:109083294-109083806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29849 Neighboring gene Sharpr-MPRA regulatory region 2184 Neighboring gene RPS5 pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:109246549-109247204 Neighboring gene microRNA 652 Neighboring gene microRNA 3978 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:109403823-109404356 Neighboring gene uncharacterized LOC124905230 Neighboring gene NANOG hESC enhancer GRCh37_chrX:109488243-109488792 Neighboring gene AMMECR nuclear protein 1 Neighboring gene small nucleolar RNA, C/D box 96B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29851 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20939 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:109560826-109560981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20940 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:109561279-109561613 Neighboring gene uncharacterized LOC105373312

    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. TMEM164 is an acyltransferase that forms ferroptotic C20:4 ether phospholipids. Reed A, et al. Nat Chem Biol, 2023 Mar. PMID 36782012, Free PMC Article
    2. Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis. Poreau B, et al. Am J Med Genet A, 2019 Apr. PMID 30737907
    3. TMEM164 is a new determinant of autophagy-dependent ferroptosis. Liu J, et al. Autophagy, 2023 Mar. PMID 35947500, Free PMC Article
    4. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
    5. A novel p53 regulator, C16ORF72/TAPR1, buffers against telomerase inhibition. Benslimane Y, et al. Aging Cell, 2021 Apr. PMID 33660365, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes are associated with Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis.
      Title: Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis.
    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

    • FLJ20173, FLJ22679

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in positive regulation of ferroptosis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 164
    Names
    RP13-360B22.2

    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_001353849.2 → NP_001340778.1  transmembrane protein 164 isoform b

      Status: VALIDATED

      Source sequence(s)
      AL359079, AL360224
      Consensus CDS
      CCDS14550.2
      UniProtKB/Swiss-Prot
      B3KSQ8, F5H2P2, Q5U3C3
      Conserved Domains (1) summary
      pfam14808
      Location:10 → 273
      TMEM164; TMEM164 family

    2. NM_001353850.2 → NP_001340779.1  transmembrane protein 164 isoform c

      Status: VALIDATED

      Source sequence(s)
      AL359079, AL360224
      Conserved Domains (1) summary
      pfam14808
      Location:1 → 146
      TMEM164; TMEM164 family

    3. NM_001353851.2 → NP_001340780.1  transmembrane protein 164 isoform c

      Status: VALIDATED

      Source sequence(s)
      AL359079, AL360224, BU681952
      Conserved Domains (1) summary
      pfam14808
      Location:1 → 146
      TMEM164; TMEM164 family

    4. NM_001410717.1 → NP_001397646.1  transmembrane protein 164 isoform d

      Status: VALIDATED

      Source sequence(s)
      AL359079, AL360224
      Consensus CDS
      CCDS94649.1
      UniProtKB/TrEMBL
      A1PI58, F6RZ86
      Related
      ENSP00000288381.4, ENST00000288381.4

    5. NM_017698.3 → NP_060168.2  transmembrane protein 164 isoform a

      See identical proteins and their annotated locations for NP_060168.2

      Status: VALIDATED

      Source sequence(s)
      AK094127, AL359079, BU681952, CN349076
      Consensus CDS
      CCDS55475.1
      UniProtKB/Swiss-Prot
      Q5U3C3
      Related
      ENSP00000384075.2, ENST00000372072.7
      Conserved Domains (1) summary
      pfam14808
      Location:1 → 124
      TMEM164; TMEM164 family

    6. NM_032227.4 → NP_115603.2  transmembrane protein 164 isoform b

      See identical proteins and their annotated locations for NP_115603.2

      Status: VALIDATED

      Source sequence(s)
      AL359079, BC085605, BP295095, BU681952
      Consensus CDS
      CCDS14550.2
      UniProtKB/Swiss-Prot
      B3KSQ8, F5H2P2, Q5U3C3
      Related
      ENSP00000361138.2, ENST00000372068.7
      Conserved Domains (1) summary
      pfam14808
      Location:10 → 273
      TMEM164; TMEM164 family

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      110002369..110184251
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442570.1 → XP_047298526.1  transmembrane protein 164 isoform X5

    2. XM_047442566.1 → XP_047298522.1  transmembrane protein 164 isoform X2

      UniProtKB/TrEMBL
      A1PI58, F6RZ86

    3. XM_047442569.1 → XP_047298525.1  transmembrane protein 164 isoform X5

    4. XM_047442571.1 → XP_047298527.1  transmembrane protein 164 isoform X7

    5. XM_047442568.1 → XP_047298524.1  transmembrane protein 164 isoform X3

    6. XM_011531055.3 → XP_011529357.1  transmembrane protein 164 isoform X7

      See identical proteins and their annotated locations for XP_011529357.1

      UniProtKB/Swiss-Prot
      Q5U3C3
      Conserved Domains (1) summary
      pfam14808
      Location:1 → 124
      TMEM164; TMEM164 family

    7. XM_047442565.1 → XP_047298521.1  transmembrane protein 164 isoform X1

      UniProtKB/Swiss-Prot
      B3KSQ8, F5H2P2, Q5U3C3

    8. XM_017029899.2 → XP_016885388.1  transmembrane protein 164 isoform X5

      Conserved Domains (1) summary
      pfam14808
      Location:1 → 146
      TMEM164; TMEM164 family

    9. XM_047442573.1 → XP_047298529.1  transmembrane protein 164 isoform X8

    10. XM_047442572.1 → XP_047298528.1  transmembrane protein 164 isoform X7

    11. XM_005262205.5 → XP_005262262.1  transmembrane protein 164 isoform X1

      See identical proteins and their annotated locations for XP_005262262.1

      UniProtKB/Swiss-Prot
      B3KSQ8, F5H2P2, Q5U3C3
      Related
      ENSP00000361143.1, ENST00000372073.5
      Conserved Domains (1) summary
      pfam14808
      Location:10 → 273
      TMEM164; TMEM164 family

    12. XM_005262208.6 → XP_005262265.1  transmembrane protein 164 isoform X3

      Conserved Domains (1) summary
      pfam14808
      Location:28 → 171
      TMEM164; TMEM164 family

    13. XM_017029897.2 → XP_016885386.1  transmembrane protein 164 isoform X6

    14. XM_017029894.3 → XP_016885383.1  transmembrane protein 164 isoform X4

      Conserved Domains (1) summary
      pfam14808
      Location:12 → 154
      TMEM164; TMEM164 family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      108450198..108632159
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327964.1 → XP_054183939.1  transmembrane protein 164 isoform X5

    2. XM_054327959.1 → XP_054183934.1  transmembrane protein 164 isoform X2

      UniProtKB/TrEMBL
      A1PI58, F6RZ86

    3. XM_054327963.1 → XP_054183938.1  transmembrane protein 164 isoform X5

    4. XM_054327968.1 → XP_054183943.1  transmembrane protein 164 isoform X7

    5. XM_054327961.1 → XP_054183936.1  transmembrane protein 164 isoform X3

    6. XM_054327967.1 → XP_054183942.1  transmembrane protein 164 isoform X7

    7. XM_054327957.1 → XP_054183932.1  transmembrane protein 164 isoform X1

      UniProtKB/Swiss-Prot
      B3KSQ8, F5H2P2, Q5U3C3

    8. XM_054327965.1 → XP_054183940.1  transmembrane protein 164 isoform X5

    9. XM_054327970.1 → XP_054183945.1  transmembrane protein 164 isoform X8

    10. XM_054327969.1 → XP_054183944.1  transmembrane protein 164 isoform X7

    11. XM_054327958.1 → XP_054183933.1  transmembrane protein 164 isoform X1

      UniProtKB/Swiss-Prot
      B3KSQ8, F5H2P2, Q5U3C3

    12. XM_054327960.1 → XP_054183935.1  transmembrane protein 164 isoform X3

    13. XM_054327966.1 → XP_054183941.1  transmembrane protein 164 isoform X6

    14. XM_054327962.1 → XP_054183937.1  transmembrane protein 164 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5U3C3.1 GenPept UniProtKB/Swiss-Prot:Q5U3C3

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