Aliases for EMC4 Gene

Aliases for EMC4 Gene

  • ER Membrane Protein Complex Subunit 4 2 3 4 5
  • Transmembrane Protein 85 2 3 4
  • Cell Proliferation-Inducing Gene 17 Protein 3 4
  • TMEM85 3 4
  • PIG17 2 3
  • FLJ90746 2
  • MGC24415 2
  • EMC4 5

External Ids for EMC4 Gene

Previous HGNC Symbols for EMC4 Gene

  • TMEM85

Previous GeneCards Identifiers for EMC4 Gene

  • GC15P034519

Summaries for EMC4 Gene

GeneCards Summary for EMC4 Gene

EMC4 (ER Membrane Protein Complex Subunit 4) is a Protein Coding gene. Diseases associated with EMC4 include Agenesis Of The Corpus Callosum With Peripheral Neuropathy and Fundus Dystrophy.

UniProtKB/Swiss-Prot Summary for EMC4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EMC4 Gene

Genomics for EMC4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EMC4 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
GH15J034223 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 0.0 -12 2.8 HNRNPL CREB1 GATAD2A PRDM10 REST ZNF629 RFX1 SIX5 LEF1 IKZF1 EMC4 piR-38196 piR-41306-086 NOP10 SLC12A6 NUTM1 KATNBL1
GH15J034100 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.7 -123.3 -123312 3.4 BRCA1 SP1 CREB1 REST ZNF629 RFX1 SIX5 IKZF1 ZNF692 POLR2A PGBD4 EMC7 lnc-KATNBL1-2 AVEN KATNBL1 EMC4 RPL32P2
GH15J034317 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 8.8 +93.8 93759 3.9 GATAD2A ZNF629 REST TFE3 LEF1 IKZF1 FOXA1 PRDM1 RBFOX2 PKNOX1 SLC12A6 NOP10 GOLGA8A AQR ENSG00000259287 ENSG00000259408 EMC4 lnc-NOP10-1 RF00017-1746
GH15J034208 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 9.1 -15.8 -15813 3.2 SP1 GATAD2A CTCF HNRNPL IKZF1 ZNF692 POLR2A BACH1 TARDBP JUND KATNBL1 lnc-KATNBL1-1 NOP10 EMC4 hsa-miR-5095-152 PGBD4
GH15J034252 Enhancer 0.7 Ensembl 12.5 +27.9 27888 0.2 ZNF24 NR2C1 DPF2 EP300 NFE2 ZNF316 MAFF NR2C2 EP400 MAFG piR-38583-006 NOP10 EMC4 LPCAT4 SLC12A6 NUTM1 ENSG00000259468
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EMC4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EMC4

Genomic Locations for EMC4 Gene

Genomic Locations for EMC4 Gene
chr15:34,225,013-34,230,156
(GRCh38/hg38)
Size:
5,144 bases
Orientation:
Plus strand
chr15:34,517,200-34,522,357
(GRCh37/hg19)
Size:
5,158 bases
Orientation:
Plus strand

Genomic View for EMC4 Gene

Genes around EMC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EMC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EMC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EMC4 Gene

Proteins for EMC4 Gene

  • Protein details for EMC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5J8M3-EMC4_HUMAN
    Recommended name:
    ER membrane protein complex subunit 4
    Protein Accession:
    Q5J8M3
    Secondary Accessions:
    • A8K3A9
    • B4DJQ4
    • Q96KX9
    • Q9BUI5
    • Q9P0T9

    Protein attributes for EMC4 Gene

    Size:
    183 amino acids
    Molecular mass:
    20087 Da
    Quaternary structure:
    • Component of the ER membrane protein complex (EMC).

    Alternative splice isoforms for EMC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EMC4 Gene

Post-translational modifications for EMC4 Gene

  • Ubiquitination at Lys16 and Lys50
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EMC4 Gene

Domains & Families for EMC4 Gene

Gene Families for EMC4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for EMC4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EMC4 Gene

GenScript: Design optimal peptide antigens:
  • Cell proliferation-inducing gene 17 protein (TMM85_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5J8M3

UniProtKB/Swiss-Prot:

EMC4_HUMAN :
  • Belongs to the EMC4 family.
Family:
  • Belongs to the EMC4 family.
genes like me logo Genes that share domains with EMC4: view

Function for EMC4 Gene

Molecular function for EMC4 Gene

UniProtKB/Swiss-Prot Function:
May mediate anti-apoptotic activity.

Phenotypes From GWAS Catalog for EMC4 Gene

genes like me logo Genes that share phenotypes with EMC4: view

Animal Models for EMC4 Gene

MGI Knock Outs for EMC4:
  • Emc4 Emc4<tm1(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EMC4

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for EMC4 Gene

Localization for EMC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EMC4 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 EMC4 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 3
mitochondrion 2
cytosol 2
plasma membrane 1
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Focal adhesion sites (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EMC4 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 EMC4: view

Pathways & Interactions for EMC4 Gene

PathCards logo

SuperPathways for EMC4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EMC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
genes like me logo Genes that share ontologies with EMC4: view

No data available for Pathways by source and SIGNOR curated interactions for EMC4 Gene

Drugs & Compounds for EMC4 Gene

No Compound Related Data Available

Transcripts for EMC4 Gene

mRNA/cDNA for EMC4 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EMC4

Alternative Splicing Database (ASD) splice patterns (SP) for EMC4 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c · 6d · 6e
SP1: - - - - - -
SP2: - - - - -
SP3: - - - - - - - -
SP4: - - - - -
SP5: - - - - - - - -
SP6: - - - -
SP7: - - - - - - - - - -
SP8: - - - - - - - - - -
SP9:
SP10: - -

Relevant External Links for EMC4 Gene

GeneLoc Exon Structure for
EMC4

Expression for EMC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EMC4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EMC4 Gene

This gene is overexpressed in Bone (25.1) and Peripheral blood mononuclear cells (14.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EMC4 Gene



Protein tissue co-expression partners for EMC4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EMC4

SOURCE GeneReport for Unigene cluster for EMC4 Gene:

Hs.250905

mRNA Expression by UniProt/SwissProt for EMC4 Gene:

Q5J8M3-EMC4_HUMAN
Tissue specificity: Isoform 1 is expressed in brain and heart. Isoform 2 is expressed in heart.

Evidence on tissue expression from TISSUES for EMC4 Gene

  • Nervous system(4.4)
  • Liver(4.4)
  • Blood(4.3)
  • Kidney(2.4)
  • Skin(2.3)
  • Gall bladder(2)
genes like me logo Genes that share expression patterns with EMC4: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for EMC4 Gene

Orthologs for EMC4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EMC4 Gene

Organism Taxonomy Gene Similarity Type Details
Oppossum
(Monodelphis domestica)
Mammalia EMC4 31
  • 98 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia EMC4 30 31
  • 96.36 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EMC4 30 31
  • 94.72 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EMC4 30 31
  • 94.17 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Emc4 30
  • 93.62 (n)
Mouse
(Mus musculus)
Mammalia Emc4 30 17 31
  • 93.44 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia EMC4 31
  • 91 (a)
OneToOne
Chicken
(Gallus gallus)
Aves EMC4 30 31
  • 65.69 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EMC4 31
  • 87 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia emc4 30
  • 75.56 (n)
MGC75691 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.8318 30
Zebrafish
(Danio rerio)
Actinopterygii emc4 30 31 31
  • 70.81 (n)
OneToMany
Dr.11020 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11082 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG11137 30 31
  • 56.84 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010558 30
  • 55.76 (n)
Worm
(Caenorhabditis elegans)
Secernentea perm-3 30 31
  • 51.74 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EMC4 31 33
  • 26 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G10780 30
  • 45.29 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0360500 30
  • 45.86 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3102 31
  • 54 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1875 30
Species where no ortholog for EMC4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 EMC4 Gene

ENSEMBL:
Gene Tree for EMC4 (if available)
TreeFam:
Gene Tree for EMC4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EMC4: view image

Paralogs for EMC4 Gene

No data available for Paralogs for EMC4 Gene

Variants for EMC4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EMC4 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
884491 Uncertain Significance: Agenesis of the corpus callosum with peripheral neuropathy 34,230,053(+) A/C NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
884492 Uncertain Significance: Agenesis of the corpus callosum with peripheral neuropathy 34,230,126(+) A/G NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
rs552491692 Uncertain Significance: Agenesis of the corpus callosum with peripheral neuropathy 34,230,039(+) C/A NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
rs566558212 Uncertain Significance: Agenesis of the corpus callosum with peripheral neuropathy 34,230,149(+) T/TA NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
rs779743332 Uncertain Significance: not provided 34,227,813(+) C/T NONSENSE,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for EMC4 Gene

Structural Variations from Database of Genomic Variants (DGV) for EMC4 Gene

Variant ID Type Subtype PubMed ID
dgv4456n54 CNV gain 21841781
esv33337 CNV gain+loss 17666407
esv3569431 CNV gain 25503493
nsv1052620 CNV gain 25217958

Variation tolerance for EMC4 Gene

Residual Variation Intolerance Score: 37.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.88; 18.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EMC4 Gene

Human Gene Mutation Database (HGMD)
EMC4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EMC4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EMC4 Gene

Disorders for EMC4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for EMC4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
agenesis of the corpus callosum with peripheral neuropathy
  • accpn
fundus dystrophy
  • retinal dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search EMC4 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with EMC4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EMC4 Gene

Publications for EMC4 Gene

  1. Transmembrane protein 85 from both human (TMEM85) and yeast (YGL231c) inhibit hydrogen peroxide mediated cell death in yeast. (PMID: 18586032) Ring G … Greenwood MT (FEBS letters 2008) 2 3 4 23
  2. Defining human ERAD networks through an integrative mapping strategy. (PMID: 22119785) Christianson JC … Kopito RR (Nature cell biology 2011) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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
  5. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 3 4

Products for EMC4 Gene

Sources for EMC4 Gene