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TMEM182 transmembrane protein 182 [ Homo sapiens (human) ]

Gene ID: 130827, updated on 26-Oct-2022

Summary

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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
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

See TMEM182 in Genome Data Viewer
Location:
2q12.1
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (102736935..102843838)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (103195615..103276359)
105.20220307 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 major facilitator superfamily domain containing 9 Neighboring gene long intergenic non-protein coding RNA 1796 Neighboring gene VISTA enhancer hs1212

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

Bibliography

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 

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_001321343.2NP_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:2177
    Claudin_2; PMP-22/EMP/MP20/Claudin tight junction
  2. NM_001321344.2NP_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:2177
    Claudin_2; PMP-22/EMP/MP20/Claudin tight junction
  3. NM_001321345.2NP_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:1124
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  4. NM_001321346.2NP_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:1578
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  5. NM_144632.5NP_653233.5  transmembrane protein 182 isoform a precursor

    Status: VALIDATED

    Source sequence(s)
    AC007251
    Consensus CDS
    CCDS2064.1
    UniProtKB/Swiss-Prot
    Q96NR4
    Related
    ENSP00000394178.2, ENST00000412401.3
    Conserved Domains (1) summary
    pfam13903
    Location:15220
    Claudin_2; PMP-22/EMP/MP20/Claudin tight junction

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_017003376.2XP_016858865.1  transmembrane protein 182 isoform X3

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

    See identical proteins and their annotated locations for XP_006712350.1

    Conserved Domains (1) summary
    pfam13903
    Location:15156
    Claudin_2; PMP-22/EMP/MP20/Claudin tight junction
  3. XM_017003375.2XP_016858864.1  transmembrane protein 182 isoform X2

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

    Conserved Domains (1) summary
    cl21598
    Location:15112
    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..103276359
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)