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TMEM171 transmembrane protein 171 [ Homo sapiens (human) ]

Gene ID: 134285, updated on 11-Jun-2021

Summary

Official Symbol
TMEM171provided by HGNC
Official Full Name
transmembrane protein 171provided by HGNC
Primary source
HGNC:HGNC:27031
See related
Ensembl:ENSG00000157111
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
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

See TMEM171 in Genome Data Viewer
Location:
5q13.2
Exon count:
4
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (73120575..73131814)
105.20201022 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 CTD nuclear envelope phosphatase 1 pseudogene Neighboring gene CHP1 pseudogene 1 Neighboring gene uncharacterized LOC105379030 Neighboring gene 40S ribosomal protein S3 pseudogene

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

Associated conditions

Description Tests
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
GeneReviews: Not available
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_001161342.3NP_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:4317
    TMEM171; Transmembrane protein family 171
  2. NM_173490.8NP_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
    Q8WVE6
    Related
    ENSP00000415030.2, ENST00000454765.7
    Conserved Domains (1) summary
    pfam15471
    Location:4318
    TMEM171; Transmembrane protein family 171

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    73120575..73131814
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    pfam15471
    Location:4299
    TMEM171; Transmembrane protein family 171
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