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Aliases for EMC9 Gene

Aliases for EMC9 Gene

  • ER Membrane Protein Complex Subunit 9 2 3 5
  • Family With Sequence Similarity 158, Member A 2 3
  • C14orf122 3 4
  • FAM158A 3 4
  • Chromosome 14 Open Reading Frame 122 2
  • UPF0172 Protein FAM158A 3
  • Protein FAM158A 4
  • CGI-112 3

External Ids for EMC9 Gene

Previous HGNC Symbols for EMC9 Gene

  • C14orf122
  • FAM158A

Previous GeneCards Identifiers for EMC9 Gene

  • GC14M024609

Summaries for EMC9 Gene

GeneCards Summary for EMC9 Gene

EMC9 (ER Membrane Protein Complex Subunit 9) is a Protein Coding gene. An important paralog of this gene is EMC8.

Additional gene information for EMC9 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EMC9 Gene

Genomics for EMC9 Gene

GeneHancer (GH) Regulatory Elements for EMC9 Gene

Promoters and enhancers for EMC9 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I024139 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 590.7 +0.6 592 3.7 PKNOX1 SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 EMC9 ENSG00000259321 NFATC4 NGDN HOMEZ IPO4 THTPA TSSK4 PABPN1 MDP1
GH14I024145 Enhancer 0.2 ENCODE 550.8 -1.6 -1562 0 MIR7703 GC14M024146 EMC9
GH14I024135 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 31.8 +5.0 5017 2.9 HDGF CLOCK FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF213 PSME1 EMC9 RNF31 ENSG00000259321
GH14I024144 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 30.5 -5.3 -5263 3.7 HDGF PKNOX1 CLOCK SMAD1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 RNF31 PSME2 EMC9
GH14I024130 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 28.9 +9.8 9812 3.2 ELF3 NFIB ARID4B SIN3A DMAP1 ZNF48 RARA YY1 SLC30A9 CREM FITM1 EMC9 PSME1 ENSG00000259371
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EMC9 on UCSC Golden Path with GeneCards custom track

Genomic Locations for EMC9 Gene

Genomic Locations for EMC9 Gene
chr14:24,138,959-24,141,588
(GRCh38/hg38)
Size:
2,630 bases
Orientation:
Minus strand
chr14:24,608,174-24,610,797
(GRCh37/hg19)

Genomic View for EMC9 Gene

Genes around EMC9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EMC9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EMC9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EMC9 Gene

Proteins for EMC9 Gene

  • Protein details for EMC9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y3B6-EMC9_HUMAN
    Recommended name:
    ER membrane protein complex subunit 9
    Protein Accession:
    Q9Y3B6
    Secondary Accessions:
    • D3DS60
    • Q9BUM3

    Protein attributes for EMC9 Gene

    Size:
    208 amino acids
    Molecular mass:
    23061 Da
    Quaternary structure:
    • Component of the ER membrane protein complex (EMC).

neXtProt entry for EMC9 Gene

Post-translational modifications for EMC9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EMC9 Gene

Domains & Families for EMC9 Gene

Gene Families for EMC9 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for EMC9 Gene

Suggested Antigen Peptide Sequences for EMC9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y3B6

UniProtKB/Swiss-Prot:

EMC9_HUMAN :
  • Belongs to the EMC8/EMC9 family.
Family:
  • Belongs to the EMC8/EMC9 family.
genes like me logo Genes that share domains with EMC9: view

Function for EMC9 Gene

Phenotypes From GWAS Catalog for EMC9 Gene

Gene Ontology (GO) - Molecular Function for EMC9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with EMC9: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for EMC9 Gene

Localization for EMC9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EMC9 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EMC9 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 3
mitochondrion 1
nucleus 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EMC9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 22119785
GO:0072546 ER membrane protein complex IDA 22119785
genes like me logo Genes that share ontologies with EMC9: view

Pathways & Interactions for EMC9 Gene

No data available for Pathways by source and SIGNOR curated interactions for EMC9 Gene

Drugs & Compounds for EMC9 Gene

No Compound Related Data Available

Transcripts for EMC9 Gene

Unigene Clusters for EMC9 Gene

ER membrane protein complex subunit 9:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for EMC9 Gene

No ASD Table

Relevant External Links for EMC9 Gene

GeneLoc Exon Structure for
EMC9
ECgene alternative splicing isoforms for
EMC9

Expression for EMC9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EMC9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EMC9 Gene

This gene is overexpressed in Tonsil (53.0) and Platelet (16.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EMC9 Gene



Protein tissue co-expression partners for EMC9 Gene

NURSA nuclear receptor signaling pathways regulating expression of EMC9 Gene:

EMC9

SOURCE GeneReport for Unigene cluster for EMC9 Gene:

Hs.271614

Evidence on tissue expression from TISSUES for EMC9 Gene

  • Skin(4.2)
genes like me logo Genes that share expression patterns with EMC9: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EMC9 Gene

Orthologs for EMC9 Gene

This gene was present in the common ancestor of animals.

Orthologs for EMC9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EMC9 33 34
  • 99.68 (n)
dog
(Canis familiaris)
Mammalia EMC9 33 34
  • 91.87 (n)
cow
(Bos Taurus)
Mammalia EMC9 33 34
  • 91.38 (n)
rat
(Rattus norvegicus)
Mammalia Emc9 33
  • 87.7 (n)
mouse
(Mus musculus)
Mammalia Emc9 33 16 34
  • 86.83 (n)
oppossum
(Monodelphis domestica)
Mammalia EMC9 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia emc9 33
  • 56.54 (n)
zebrafish
(Danio rerio)
Actinopterygii emc9 33 34
  • 56.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3501 33 34
  • 48.5 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010320 33
  • 46.28 (n)
worm
(Caenorhabditis elegans)
Secernentea F25H2.4 34
  • 27 (a)
OneToMany
Species where no ortholog for EMC9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EMC9 Gene

ENSEMBL:
Gene Tree for EMC9 (if available)
TreeFam:
Gene Tree for EMC9 (if available)

Paralogs for EMC9 Gene

Paralogs for EMC9 Gene

(2) SIMAP similar genes for EMC9 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with EMC9: view

Variants for EMC9 Gene

Sequence variations from dbSNP and Humsavar for EMC9 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000829856 -- 24,143,826(-) T/C upstream_transcript_variant
rs1000965185 -- 24,143,489(-) C/T upstream_transcript_variant
rs1002072671 -- 24,140,373(-) C/G intron_variant
rs1002140383 -- 24,141,642(-) C/A 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1002144510 -- 24,139,041(-) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for EMC9 Gene

Variant ID Type Subtype PubMed ID
nsv564057 CNV loss 21841781

Variation tolerance for EMC9 Gene

Residual Variation Intolerance Score: 76.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.87; 34.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EMC9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EMC9

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EMC9 Gene

Disorders for EMC9 Gene

Additional Disease Information for EMC9

No disorders were found for EMC9 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EMC9 Gene

Publications for EMC9 Gene

  1. Defining human ERAD networks through an integrative mapping strategy. (PMID: 22119785) Christianson JC … Kopito RR (Nature cell biology 2011) 2 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for EMC9 Gene

Sources for EMC9 Gene

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