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

Gene ID: 9694, updated on 5-Mar-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
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Genomic context

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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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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
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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