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Aliases for EMC3 Gene

Aliases for EMC3 Gene

  • ER Membrane Protein Complex Subunit 3 2 3 5
  • Transmembrane Protein 111 2 3 4
  • TMEM111 3 4
  • Partial Optokinetic Response B 3
  • 30 KDa Protein 3
  • POB 3

External Ids for EMC3 Gene

Previous HGNC Symbols for EMC3 Gene

  • TMEM111

Previous GeneCards Identifiers for EMC3 Gene

  • GC03M010007

Summaries for EMC3 Gene

GeneCards Summary for EMC3 Gene

EMC3 (ER Membrane Protein Complex Subunit 3) is a Protein Coding gene. Diseases associated with EMC3 include Primary Cutaneous Amyloidosis.

Additional gene information for EMC3 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 EMC3 Gene

Genomics for EMC3 Gene

GeneHancer (GH) Regulatory Elements for EMC3 Gene

Promoters and enhancers for EMC3 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
GH03I009985 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.3 +24.0 23984 2.5 HDGF PKNOX1 CLOCK MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B EMC3-AS1 EMC3 FANCD2 BRPF1 BRK1 GHRLOS RNU6-670P FANCD2OS PRRT3 SETD5
GH03I010008 Promoter/Enhancer 1.4 Ensembl ENCODE 550.8 +0.9 885 3.1 PKNOX1 ATF1 ZFP64 ARID4B SIN3A DMAP1 GLIS2 ATF7 ZNF263 SP3 EMC3 ENSG00000206567 JAGN1 SETD5 BRPF1 BRK1 RNU6-670P FANCD2 IL17RE PRRT3
GH03I009975 Enhancer 1.5 Ensembl ENCODE dbSUPER 0.3 +32.9 32903 4.8 HDGF PKNOX1 CLOCK FOXA2 ARNT ARID4B SIN3A ZNF2 YY1 ZNF766 PIR57234 FANCD2 TTLL3 BRPF1 THUMPD3-AS1 BRK1 SETD5 PRRT3 CIDECP ENSG00000269894
GH03I009983 Enhancer 0.7 ENCODE 0.3 +28.0 27979 0.2 HDGF CTCF ZNF362 TRIM22 ZNF384 ZNF2 RAD21 ZBTB49 ZSCAN21 GLIS2 TTLL3 BRPF1 SETD5 FANCD2 RNU6-670P PRRT3 GHRLOS RPUSD3 THUMPD3-AS1 GHRL
GH03I009969 Enhancer 0.7 ENCODE 0.3 +40.7 40675 2.6 CLOCK CEBPG ZBTB40 CTBP1 GATA3 FOXK2 SCRT2 FOSL2 FOS SMARCE1 BRK1 FANCD2OS IL17RC RNU6-882P IL17RE FANCD2 CIDECP VHL RPUSD3 JAGN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EMC3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for EMC3 Gene

Genomic Locations for EMC3 Gene
chr3:9,962,537-10,011,116
(GRCh38/hg38)
Size:
48,580 bases
Orientation:
Minus strand
chr3:10,004,221-10,052,800
(GRCh37/hg19)

Genomic View for EMC3 Gene

Genes around EMC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EMC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EMC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EMC3 Gene

Proteins for EMC3 Gene

  • Protein details for EMC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P0I2-EMC3_HUMAN
    Recommended name:
    ER membrane protein complex subunit 3
    Protein Accession:
    Q9P0I2
    Secondary Accessions:
    • B2R4Z9
    • Q53GH8
    • Q6ZMC2

    Protein attributes for EMC3 Gene

    Size:
    261 amino acids
    Molecular mass:
    29952 Da
    Quaternary structure:
    • Component of the ER membrane protein complex (EMC).
    SequenceCaution:
    • Sequence=BAD18807.1; Type=Erroneous termination; Positions=222; Note=Translated as Trp.; Evidence={ECO:0000305};

    Alternative splice isoforms for EMC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EMC3 Gene

Post-translational modifications for EMC3 Gene

No Post-translational modifications

Other Protein References for EMC3 Gene

No data available for DME Specific Peptides for EMC3 Gene

Domains & Families for EMC3 Gene

Gene Families for EMC3 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for EMC3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EMC3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9P0I2

UniProtKB/Swiss-Prot:

EMC3_HUMAN :
  • Belongs to the EMC3 family.
Family:
  • Belongs to the EMC3 family.
genes like me logo Genes that share domains with EMC3: view

Function for EMC3 Gene

Gene Ontology (GO) - Molecular Function for EMC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with EMC3: view

Phenotypes for EMC3 Gene

GenomeRNAi human phenotypes for EMC3:
genes like me logo Genes that share phenotypes with EMC3: view

miRNA for EMC3 Gene

miRTarBase miRNAs that target EMC3

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EMC3 Gene

Localization for EMC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EMC3 Gene

Membrane; Multi-pass membrane protein.

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 EMC3 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 2
cytoskeleton 2
cytosol 2
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Microtubules (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EMC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IDA 22119785
GO:0072546 ER membrane protein complex IDA 22119785
genes like me logo Genes that share ontologies with EMC3: view

Pathways & Interactions for EMC3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EMC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0034975 protein folding in endoplasmic reticulum IBA --
genes like me logo Genes that share ontologies with EMC3: view

No data available for Pathways by source and SIGNOR curated interactions for EMC3 Gene

Drugs & Compounds for EMC3 Gene

No Compound Related Data Available

Transcripts for EMC3 Gene

Unigene Clusters for EMC3 Gene

ER membrane protein complex subunit 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EMC3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9
SP1: - -
SP2: -
SP3: - - - -
SP4:

Relevant External Links for EMC3 Gene

GeneLoc Exon Structure for
EMC3
ECgene alternative splicing isoforms for
EMC3

Expression for EMC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EMC3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EMC3 Gene

This gene is overexpressed in Bone (11.5) and Placenta (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EMC3 Gene



Protein tissue co-expression partners for EMC3 Gene

NURSA nuclear receptor signaling pathways regulating expression of EMC3 Gene:

EMC3

SOURCE GeneReport for Unigene cluster for EMC3 Gene:

Hs.475392

Evidence on tissue expression from TISSUES for EMC3 Gene

  • Adrenal gland(4.3)
  • Intestine(4.3)
  • Liver(4.3)
  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with EMC3: 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 EMC3 Gene

Orthologs for EMC3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EMC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EMC3 33
  • 100 (n)
TMEM111 34
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EMC3 34
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EMC3 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EMC3 33 34
  • 94.89 (n)
cow
(Bos Taurus)
Mammalia EMC3 33 34
  • 93.49 (n)
mouse
(Mus musculus)
Mammalia Emc3 33 16 34
  • 91.44 (n)
rat
(Rattus norvegicus)
Mammalia Emc3 33
  • 89.53 (n)
chicken
(Gallus gallus)
Aves EMC3 33 34
  • 83.27 (n)
lizard
(Anolis carolinensis)
Reptilia EMC3 34
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia emc3 33
  • 80.59 (n)
Str.1909 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.34728 33
zebrafish
(Danio rerio)
Actinopterygii emc3 33 34
  • 75.1 (n)
wufi32f05 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1284 33
fruit fly
(Drosophila melanogaster)
Insecta CG6750 34
  • 61 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea emc-3 34
  • 58 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AIM27 34
  • 30 (a)
OneToOne
EMC3 36
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G12590 33
  • 52.53 (n)
rice
(Oryza sativa)
Liliopsida Os09g0497400 33
  • 56.03 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9956 34
  • 65 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4027 33
Species where no ortholog for EMC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EMC3 Gene

ENSEMBL:
Gene Tree for EMC3 (if available)
TreeFam:
Gene Tree for EMC3 (if available)

Paralogs for EMC3 Gene

Pseudogenes.org Pseudogenes for EMC3 Gene

genes like me logo Genes that share paralogs with EMC3: view

No data available for Paralogs for EMC3 Gene

Variants for EMC3 Gene

Sequence variations from dbSNP and Humsavar for EMC3 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000041788 -- 9,963,006(-) C/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000078926 -- 9,980,878(-) G/C intron_variant
rs1000202791 -- 9,975,504(-) G/C intron_variant
rs1000235520 -- 9,980,449(-) T/C intron_variant
rs1000289192 -- 10,007,052(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EMC3 Gene

Variant ID Type Subtype PubMed ID
esv3595256 CNV loss 21293372
nsv589648 CNV loss 21841781
nsv834615 CNV loss 17160897

Variation tolerance for EMC3 Gene

Residual Variation Intolerance Score: 34.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.74; 15.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EMC3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EMC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EMC3 Gene

Disorders for EMC3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EMC3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
primary cutaneous amyloidosis
  • familial primary localized cutaneous amyloidosis
- elite association - COSMIC cancer census association via MalaCards
Search EMC3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EMC3

genes like me logo Genes that share disorders with EMC3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EMC3 Gene

Publications for EMC3 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. Coexpression network based on natural variation in human gene expression reveals gene interactions and functions. (PMID: 19797678) Nayak RR … Cheung VG (Genome research 2009) 2 3 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. 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
  5. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PMID: 10931946) Hu RM … Chen JL (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4 58

Products for EMC3 Gene

Sources for EMC3 Gene

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