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    TMEM225 transmembrane protein 225 [ Homo sapiens (human) ]

    Gene ID: 338661, updated on 5-Mar-2024

    Summary

    Official Symbol
    TMEM225provided by HGNC
    Official Full Name
    transmembrane protein 225provided by HGNC
    Primary source
    HGNC:HGNC:32390
    See related
    Ensembl:ENSG00000204300 AllianceGenome:HGNC:32390
    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
    PMP22CD; SPATA47; PPP1R154
    Summary
    Predicted to be involved in negative regulation of phosphatase activity. Predicted to be located in acrosomal membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 3.9) See more
    Orthologs
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    Genomic context

    Location:
    11q24.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (123882920..123885670, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (123911680..123914430, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (123753627..123756377, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:123711437-123712636 Neighboring gene olfactory receptor family 6 subfamily M member 2 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:123732543-123733042 Neighboring gene NANOG hESC enhancer GRCh37_chr11:123736074-123736587 Neighboring gene olfactory receptor family 6 subfamily M member 3 pseudogene Neighboring gene olfactory receptor family 8 subfamily D member 4 Neighboring gene olfactory receptor family 4 subfamily D member 5

    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

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    transmembrane protein 225
    Names
    PMP22 claudin domain-containing protein
    protein phosphatase 1, regulatory subunit 154
    spermatogenesis associated 47

    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_001013743.3NP_001013765.2  transmembrane protein 225 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AA437068, AP002407, AY634366, BX091037
      Consensus CDS
      CCDS31697.1
      UniProtKB/Swiss-Prot
      Q6GV28
      Related
      ENSP00000364166.2, ENST00000375026.7
    2. NM_001363605.2NP_001350534.1  transmembrane protein 225 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AP002407, KF455554
      UniProtKB/TrEMBL
      E9PLT9
      Related
      ENSP00000431282.1, ENST00000528595.1

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      123882920..123885670 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542802.4XP_011541104.1  transmembrane protein 225 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      123911680..123914430 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368627.1XP_054224602.1  transmembrane protein 225 isoform X1