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TMEM182 transmembrane protein 182 [ Homo sapiens (human) ]

Gene ID: 130827, updated on 2-Nov-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, Nov 2024]
Expression
Biased expression in heart (RPKM 27.0), prostate (RPKM 2.7) and 2 other tissues See more
Orthologs
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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

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