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    EMC2 ER membrane protein complex subunit 2 [ Homo sapiens (human) ]

    Gene ID: 9694, updated on 17-Jun-2024

    Summary

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    Official Symbol
    EMC2provided by HGNC
    Official Full Name
    ER membrane protein complex subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:28963
    See related
    Ensembl:ENSG00000104412 MIM:607722; AllianceGenome:HGNC:28963
    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
    TTC35; KIAA0103
    Summary
    Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane. Is extrinsic component of endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 34.1), fat (RPKM 27.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EMC2 in Genome Data Viewer
    Location:
    8q23.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (108443624..108489196)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (109572105..109617653)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (109455853..109501425)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 3 subunit E Neighboring gene uncharacterized LOC105375704 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:109298807-109299390 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr8:109299391-109299976 Neighboring gene ribosomal protein S17 pseudogene 14 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19467 Neighboring gene dnaJ homolog subfamily B member 6-like Neighboring gene uncharacterized LOC124902049 Neighboring gene transmembrane protein 74

    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
    • 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. A CRISPR-Based Screen Identifies Genes Essential for West-Nile-Virus-Induced Cell Death. Ma H, et al. Cell Rep, 2015 Jul 28. PMID 26190106, Free PMC Article
    2. WNK1 is an assembly factor for the human ER membrane protein complex. Pleiner T, et al. Mol Cell, 2021 Jul 1. PMID 33964204, Free PMC Article
    3. Identification of RSPO2 Fusion Mutations and Target Therapy Using a Porcupine Inhibitor. Li C, et al. Sci Rep, 2018 Sep 24. PMID 30250044, Free PMC Article
    4. Nuclear envelope proteomics: novel integral membrane proteins of the inner nuclear membrane. Dreger M, et al. Proc Natl Acad Sci U S A, 2001 Oct 9. PMID 11593002, Free PMC Article
    5. Structural basis for membrane insertion by the human ER membrane protein complex. Pleiner T, et al. Science, 2020 Jul 24. PMID 32439656, Free PMC Article

    See all (73) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. We then examined the oncogenic effects of the RSPO2-EMC2 fusion gene and confirmed that it can drive oncogenesis, sustain tumor growth and promote metastasis.
      Title: Identification of RSPO2 Fusion Mutations and Target Therapy Using a Porcupine Inhibitor.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to membrane insertase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein insertion into ER membrane by stop-transfer membrane-anchor sequence IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein insertion into ER membrane by stop-transfer membrane-anchor sequence IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in tail-anchored membrane protein insertion into ER membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of EMC complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of EMC complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of EMC complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of EMC complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in extrinsic component of endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ER membrane protein complex subunit 2
    Names
    TPR repeat protein 35
    tetratricopeptide repeat domain 35
    tetratricopeptide repeat protein 35

    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_001329493.2 → NP_001316422.1  ER membrane protein complex subunit 2 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC022634, AP002088
      UniProtKB/TrEMBL
      A8K4K9, Q53HG5

    2. NM_001329494.2 → NP_001316423.1  ER membrane protein complex subunit 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC022634, AP002088

    3. NM_001329495.2 → NP_001316424.1  ER membrane protein complex subunit 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC022634, AP002088
      UniProtKB/TrEMBL
      A8K4K9, Q53HG5
      Conserved Domains (2) summary
      TIGR02917
      Location:103 → 241
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:121 → 151
      TPR; TPR repeat [structural motif]

    4. NM_014673.5 → NP_055488.1  ER membrane protein complex subunit 2 isoform 2

      See identical proteins and their annotated locations for NP_055488.1

      Status: VALIDATED

      Source sequence(s)
      AC022634, BC021667
      Consensus CDS
      CCDS6309.1
      UniProtKB/Swiss-Prot
      Q15006, Q8WUE1
      UniProtKB/TrEMBL
      A8K4K9, Q53HG5
      Related
      ENSP00000220853.3, ENST00000220853.8
      Conserved Domains (2) summary
      TIGR02917
      Location:102 → 240
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:120 → 150
      TPR; TPR repeat [structural motif]

    RNA

    1. NR_138033.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC022634, AP002088

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      108443624..108489196
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      109572105..109617653
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15006.1 GenPept UniProtKB/Swiss-Prot:Q15006

    Gene LinkOut

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

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