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TMEM171 transmembrane protein 171 [ Homo sapiens (human) ]

Gene ID: 134285, updated on 2-Nov-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, Nov 2024]
Expression
Biased expression in colon (RPKM 19.9), thyroid (RPKM 15.7) and 7 other tissues See more
Orthologs
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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)

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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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

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