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

Gene ID: 9694, updated on 2-Mar-2021

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
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
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

See EMC2 in Genome Data Viewer
Location:
8q23.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (108443624..108489196)
105.20201022 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 ribosomal protein S17 pseudogene 14 Neighboring gene dnaJ homolog subfamily B member 6-like Neighboring gene transmembrane protein 74 Neighboring gene uncharacterized LOC102723368

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

Associated conditions

Description Tests
A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to membrane insertase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
EMC complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
EMC complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
extrinsic component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 

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)

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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_001329493.2NP_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
  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
    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
    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: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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