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

    Gene ID: 9694, updated on 5-Mar-2024

    Summary

    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
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    Genomic context

    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

    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

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

    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)

    NEW Try the new Transcript table

    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_001329493.2NP_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_001329494.2NP_001316423.1  ER membrane protein complex subunit 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC022634, AP002088
    3. NM_001329495.2NP_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:103241
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:121151
      TPR; TPR repeat [structural motif]
    4. NM_014673.5NP_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:102240
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:120150
      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)