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    TMEM182 transmembrane protein 182 [ Homo sapiens (human) ]

    Gene ID: 130827, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TMEM182provided by HGNC
    Official Full Name
    transmembrane protein 182provided by HGNC
    Primary source
    HGNC:HGNC:26391
    See related
    Ensembl:ENSG00000170417 AllianceGenome:HGNC:26391
    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
    Summary
    Predicted to be involved in myotube cell development involved in skeletal muscle regeneration; negative regulation of myoblast differentiation; and negative regulation of myoblast fusion. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in heart (RPKM 27.0), prostate (RPKM 2.7) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM182 in Genome Data Viewer
    Location:
    2q12.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (102736935..102843838)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (103195615..103302530)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (103353394..103434138)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 9 member A2 Neighboring gene uncharacterized LOC124905954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:103324753-103325253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11834 Neighboring gene major facilitator superfamily domain containing 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16308 Neighboring gene long intergenic non-protein coding RNA 1796 Neighboring gene VISTA enhancer hs1212 Neighboring gene long intergenic non-protein coding RNA 1935

    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. Identification of a TMEM182 rs141764639 polymorphism associated with central obesity by regulating tumor necrosis factor-α in a Korean population. Ma M, et al. J Diabetes Complications, 2020 Dec. PMID 32938560
    2. Expression and regulation of transcript for the novel transmembrane protein Tmem182 in the adipocyte and muscle lineage. Wu Y, et al. BMC Res Notes, 2008 Sep 19. PMID 18803820, Free PMC Article
    3. Identification of a genetic variant at 2q12.1 associated with blood pressure in East Asians by genome-wide scan including gene-environment interactions. Kim YK, et al. BMC Med Genet, 2014 Jun 5. PMID 24903457, Free PMC Article
    4. TNF-α-induced miR-450a mediates TMEM182 expression to promote oral squamous cell carcinoma motility. Hsing EW, et al. PLoS One, 2019. PMID 30893332, Free PMC Article
    5. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. Lauc G, et al. PLoS Genet, 2013. PMID 23382691, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of a TMEM182 rs141764639 polymorphism associated with central obesity by regulating tumor necrosis factor-alpha in a Korean population.
      Title: Identification of a TMEM182 rs141764639 polymorphism associated with central obesity by regulating tumor necrosis factor-α in a Korean population.
    2. Tumor necrosis factor alpha (TNF-alpha)-mediated expression of TMEM182 was regulated by miR-450a induction in oral squamous cell carcinoma. MiR-450a-reduced cellular adhesion was abolished by TMEM182 restoration.
      Title: TNF-α-induced miR-450a mediates TMEM182 expression to promote oral squamous cell carcinoma motility.
    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

    EBI GWAS Catalog

    Description
    Identification of a genetic variant at 2q12.1 associated with blood pressure in East-Asians by genome-wide scan including gene-environment interactions.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    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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    Markers

    Homology

    Clone Names

    • FLJ30294, DKFZp779G1758, DKFZp779K1556, DKFZp779M1870

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in muscle organ development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in myotube cell development involved in skeletal muscle regeneration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in myotube differentiation involved in skeletal muscle regeneration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of myoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of myoblast fusion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 182

    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_001321343.2 → NP_001308272.2  transmembrane protein 182 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) and variant 3 both encode the same isoform (b).
      Source sequence(s)
      AC007251
      Consensus CDS
      CCDS82489.1
      UniProtKB/TrEMBL
      B8ZZ71
      Conserved Domains (1) summary
      pfam13903
      Location:2 → 177
      Claudin_2; PMP-22/EMP/MP20/Claudin tight junction

    2. NM_001321344.2 → NP_001308273.2  transmembrane protein 182 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) and variant 2 both encode the same isoform (b).
      Source sequence(s)
      AC007251
      Consensus CDS
      CCDS82489.1
      UniProtKB/TrEMBL
      B8ZZ71
      Related
      ENSP00000387184.1, ENST00000409173.5
      Conserved Domains (1) summary
      pfam13903
      Location:2 → 177
      Claudin_2; PMP-22/EMP/MP20/Claudin tight junction

    3. NM_001321345.2 → NP_001308274.2  transmembrane protein 182 isoform c

      Status: VALIDATED

      Source sequence(s)
      AC007251
      Consensus CDS
      CCDS82490.1
      Related
      ENSP00000387258.1, ENST00000409528.5
      Conserved Domains (1) summary
      cl21598
      Location:1 → 124
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    4. NM_001321346.2 → NP_001308275.2  transmembrane protein 182 isoform d

      Status: VALIDATED

      Source sequence(s)
      AC007251
      Consensus CDS
      CCDS92825.1
      UniProtKB/TrEMBL
      A0A494C0U9
      Related
      ENSP00000498739.1, ENST00000488134.5
      Conserved Domains (1) summary
      cl21598
      Location:15 → 78
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    5. NM_144632.5 → NP_653233.5  transmembrane protein 182 isoform a precursor

      Status: VALIDATED

      Source sequence(s)
      AC007251
      Consensus CDS
      CCDS2064.1
      UniProtKB/Swiss-Prot
      C9JML7, Q3B7B8, Q53TT9, Q6GMU0, Q6ZP80, Q8WW45, Q96NR4
      Related
      ENSP00000394178.2, ENST00000412401.3
      Conserved Domains (1) summary
      pfam13903
      Location:15 → 220
      Claudin_2; PMP-22/EMP/MP20/Claudin tight junction

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      102736935..102843838
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017003376.2 → XP_016858865.1  transmembrane protein 182 isoform X3

    2. XM_006712287.2 → XP_006712350.1  transmembrane protein 182 isoform X1

      See identical proteins and their annotated locations for XP_006712350.1

      Conserved Domains (1) summary
      pfam13903
      Location:15 → 156
      Claudin_2; PMP-22/EMP/MP20/Claudin tight junction

    3. XM_017003375.2 → XP_016858864.1  transmembrane protein 182 isoform X2

    4. XM_006712288.4 → XP_006712351.1  transmembrane protein 182 isoform X4

      Conserved Domains (1) summary
      cl21598
      Location:15 → 112
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    RNA

    1. XR_427070.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      103195615..103302530
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340596.1 → XP_054196571.1  transmembrane protein 182 isoform X3

    2. XM_054340594.1 → XP_054196569.1  transmembrane protein 182 isoform X1

    3. XM_054340595.1 → XP_054196570.1  transmembrane protein 182 isoform X2

    4. XM_054340597.1 → XP_054196572.1  transmembrane protein 182 isoform X4

    RNA

    1. XR_008486284.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZP80.2 GenPept UniProtKB/Swiss-Prot:Q6ZP80

    Gene LinkOut

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

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