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    TMEM171 transmembrane protein 171 [ Homo sapiens (human) ]

    Gene ID: 134285, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TMEM171provided by HGNC
    Official Full Name
    transmembrane protein 171provided by HGNC
    Primary source
    HGNC:HGNC:27031
    See related
    Ensembl:ENSG00000157111 AllianceGenome:HGNC:27031
    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
    PRP2
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in colon (RPKM 19.9), thyroid (RPKM 15.7) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM171 in Genome Data Viewer
    Location:
    5q13.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (73120575..73131809)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (73601908..73613146)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (72416402..72427636)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene FCH and mu domain containing endocytic adaptor 2 Neighboring gene CHP1 pseudogene 1 Neighboring gene uncharacterized LOC124901001 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:72415241-72415792 Neighboring gene uncharacterized LOC105379030 Neighboring gene 40S ribosomal protein S3-like

    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 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. Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. Okada Y, et al. Nat Genet, 2012 Jul 15. PMID 22797727, Free PMC Article
    2. Identification of G protein-coupled receptor genes from the human genome sequence. Takeda S, et al. FEBS Lett, 2002 Jun 5. PMID 12044878
    3. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Köttgen A, et al. Nat Genet, 2013 Feb. PMID 23263486, Free PMC Article
    4. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    EBI GWAS Catalog

    Description
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    EBI GWAS Catalog
    Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
    EBI GWAS Catalog

    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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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    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 171
    Names
    proline-rich protein PRP2

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001161342.3 → NP_001154814.1  transmembrane protein 171 isoform 2

      See identical proteins and their annotated locations for NP_001154814.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter isoform (2), compared to isoform 1.
      Source sequence(s)
      AC116345, BC035310, CN261444, DB334050, KF457920
      Consensus CDS
      CCDS54869.1
      UniProtKB/Swiss-Prot
      Q8WVE6
      Related
      ENSP00000287773.5, ENST00000287773.5
      Conserved Domains (1) summary
      pfam15471
      Location:4 → 317
      TMEM171; Transmembrane protein family 171

    2. NM_173490.8 → NP_775761.4  transmembrane protein 171 isoform 1

      See identical proteins and their annotated locations for NP_775761.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC116345, BC018083, KF457920
      Consensus CDS
      CCDS4017.1
      UniProtKB/Swiss-Prot
      Q8N0S1, Q8TDT7, Q8WVE6
      Related
      ENSP00000415030.2, ENST00000454765.7
      Conserved Domains (1) summary
      pfam15471
      Location:4 → 318
      TMEM171; Transmembrane protein family 171

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      73120575..73131809
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543156.2 → XP_011541458.1  transmembrane protein 171 isoform X1

      Conserved Domains (1) summary
      pfam15471
      Location:4 → 299
      TMEM171; Transmembrane protein family 171

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      73601908..73613146
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351625.1 → XP_054207600.1  transmembrane protein 171 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WVE6.3 GenPept UniProtKB/Swiss-Prot:Q8WVE6

    Gene LinkOut

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

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