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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
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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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