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Aliases for EMB Gene

Aliases for EMB Gene

  • Embigin 2 3 3 5
  • Embigin Homolog (Mouse) 2
  • Embigin Homolog 3
  • GP70 3

External Ids for EMB Gene

Previous GeneCards Identifiers for EMB Gene

  • GC05M049731
  • GC05M046656
  • GC05M049693

Summaries for EMB Gene

Entrez Gene Summary for EMB Gene

  • This gene encodes a transmembrane glycoprotein that is a member of the immunoglobulin superfamily. The encoded protein may be involved in cell growth and development by mediating interactions between the cell and extracellular matrix. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Jan 2009]

GeneCards Summary for EMB Gene

EMB (Embigin) is a Protein Coding gene. Diseases associated with EMB include Splenic Manifestation Of Leukemia and Thymus Lymphoma. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and MAPK-Erk Pathway. An important paralog of this gene is BSG.

UniProtKB/Swiss-Prot for EMB Gene

  • Plays a role in the outgrowth of motoneurons and in the formation of neuromuscular junctions. Following muscle denervation, promotes nerve terminal sprouting and the formation of additional acetylcholine receptor clusters at synaptic sites without affecting terminal Schwann cell number or morphology. Delays the retraction of terminal sprouts following re-innervation of denervated endplates. May play a role in targeting the monocarboxylate transporters SLC16A1 and SLC16A7 to the cell membrane (By similarity).

Additional gene information for EMB Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EMB Gene

Genomics for EMB Gene

GeneHancer (GH) Regulatory Elements for EMB Gene

Promoters and enhancers for EMB 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
GH05I050439 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 570.6 +2.0 2044 3 SIN3A FEZF1 ZNF2 GLIS2 KLF7 RUNX3 SP3 YY2 REST ZNF610 EMB PIR39947
GH05I050444 Enhancer 1.1 Ensembl ENCODE dbSUPER 19.2 -2.3 -2343 2.5 ZNF146 BMI1 BATF IRF4 POLR2A ETV6 BCLAF1 IKZF2 RUNX3 SMARCA5 EMB GC05P050464
GH05I050419 Enhancer 0.6 dbSUPER 31.8 +22.6 22637 1.4 OSR2 ZNF202 ZNF146 PRDM6 ZNF280D ZNF213 ZSCAN5C ZNF580 PIR39947 EMB PARP8 GC05M050397
GH05I050427 Enhancer 0.9 Ensembl ENCODE dbSUPER 20.3 +13.5 13518 4.3 JUND PRDM6 TRIM22 ETV6 ZNF24 EMB PIR39947
GH05I050501 Enhancer 0.9 Ensembl ENCODE 20 -58.6 -58613 1 PKNOX1 BMI1 BATF RELA ATF7 ETV6 IKZF2 RUNX3 TRIM22 JUNB EMB GC05M050468 ENSG00000271455
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EMB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EMB gene promoter:

Genomic Locations for EMB Gene

Genomic Locations for EMB Gene
chr5:50,396,192-50,443,307
(GRCh38/hg38)
Size:
47,116 bases
Orientation:
Minus strand
chr5:49,692,026-49,739,082
(GRCh37/hg19)

Genomic View for EMB Gene

Genes around EMB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for EMB Gene

Proteins for EMB Gene

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

    Protein Symbol:
    Q6PCB8-EMB_HUMAN
    Recommended name:
    Embigin
    Protein Accession:
    Q6PCB8
    Secondary Accessions:
    • B7Z6S3
    • B7Z902

    Protein attributes for EMB Gene

    Size:
    327 amino acids
    Molecular mass:
    36881 Da
    Quaternary structure:
    • Interacts with SLC16A1 and SLC16A7.

    Alternative splice isoforms for EMB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EMB Gene

Post-translational modifications for EMB Gene

  • Ubiquitination at posLast=135135 and Lys223
  • Glycosylation at Asn54, Asn61, Asn75, Asn85, Asn100, posLast=189189, posLast=196196, Asn213, and posLast=218218
  • Modification sites at PhosphoSitePlus

Other Protein References for EMB Gene

No data available for DME Specific Peptides for EMB Gene

Domains & Families for EMB Gene

Gene Families for EMB Gene

Suggested Antigen Peptide Sequences for EMB Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EMB: view

No data available for UniProtKB/Swiss-Prot for EMB Gene

Function for EMB Gene

Molecular function for EMB Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the outgrowth of motoneurons and in the formation of neuromuscular junctions. Following muscle denervation, promotes nerve terminal sprouting and the formation of additional acetylcholine receptor clusters at synaptic sites without affecting terminal Schwann cell number or morphology. Delays the retraction of terminal sprouts following re-innervation of denervated endplates. May play a role in targeting the monocarboxylate transporters SLC16A1 and SLC16A7 to the cell membrane (By similarity).

Phenotypes From GWAS Catalog for EMB Gene

Gene Ontology (GO) - Molecular Function for EMB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008028 monocarboxylic acid transmembrane transporter activity TAS --
genes like me logo Genes that share ontologies with EMB: view

Phenotypes for EMB Gene

MGI mutant phenotypes for EMB:
inferred from 1 alleles
GenomeRNAi human phenotypes for EMB:
genes like me logo Genes that share phenotypes with EMB: view

Animal Models for EMB Gene

MGI Knock Outs for EMB:
  • Emb tm1b(KOMP)Wtsi

Animal Model Products

  • Taconic Biosciences Mouse Models for EMB

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EMB Gene

Localization for EMB Gene

Subcellular locations from UniProtKB/Swiss-Prot for EMB Gene

Cell membrane; Single-pass type I membrane protein. Cell junction, synapse. Note=Localizes to the neuromuscular junctions. {ECO:0000250 UniProtKB:P21995}.

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 EMB gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for EMB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with EMB: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EMB Gene

Pathways & Interactions for EMB Gene

genes like me logo Genes that share pathways with EMB: view

Gene Ontology (GO) - Biological Process for EMB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035879 plasma membrane lactate transport ISS --
genes like me logo Genes that share ontologies with EMB: view

No data available for SIGNOR curated interactions for EMB Gene

Drugs & Compounds for EMB Gene

(1) Drugs for EMB Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for EMB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with EMB: view

Transcripts for EMB Gene

Unigene Clusters for EMB Gene

Embigin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

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

Relevant External Links for EMB Gene

GeneLoc Exon Structure for
EMB
ECgene alternative splicing isoforms for
EMB

Expression for EMB Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EMB Gene

This gene is overexpressed in Whole Blood (x18.4).

Protein differential expression in normal tissues from HIPED for EMB Gene

This gene is overexpressed in Monocytes (22.6), Testis (10.3), Heart (10.2), Peripheral blood mononuclear cells (8.3), and Blymphocyte (7.6).

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



Protein tissue co-expression partners for EMB Gene

NURSA nuclear receptor signaling pathways regulating expression of EMB Gene:

EMB

SOURCE GeneReport for Unigene cluster for EMB Gene:

Hs.561411

Evidence on tissue expression from TISSUES for EMB Gene

  • Intestine(4.3)
  • Spleen(3)
  • Blood(2.9)
  • Bone marrow(2.9)
  • Lymph node(2.4)
  • Lung(2)
genes like me logo Genes that share expression patterns with EMB: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EMB Gene

Orthologs for EMB Gene

This gene was present in the common ancestor of animals.

Orthologs for EMB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EMB 33 34
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia EMB 33 34
  • 84.37 (n)
cow
(Bos Taurus)
Mammalia EMB 33 34
  • 83.05 (n)
rat
(Rattus norvegicus)
Mammalia Emb 33
  • 76.99 (n)
mouse
(Mus musculus)
Mammalia Emb 33 16 34
  • 75.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 50 (a)
OneToMany
-- 34
  • 48 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia EMB 34
  • 33 (a)
OneToOne
chicken
(Gallus gallus)
Aves EMB 33
  • 57.48 (n)
ZOV3 34
  • 31 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EMB 34
  • 32 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia emb 33
  • 51.22 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-261c8.5 33
  • 53.4 (n)
EMB 34
  • 26 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Bsg 34
  • 7 (a)
OneToMany
Species where no ortholog for EMB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for EMB Gene

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

Paralogs for EMB Gene

Paralogs for EMB Gene

Pseudogenes.org Pseudogenes for EMB Gene

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

Variants for EMB Gene

Sequence variations from dbSNP and Humsavar for EMB Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000056652 -- 50,431,963(-) G/A intron_variant
rs1000087049 -- 50,438,884(-) A/C intron_variant
rs1000108700 -- 50,432,348(-) G/GG intron_variant
rs1000164500 -- 50,416,889(-) TCT/T intron_variant
rs1000646857 -- 50,409,465(-) A/C intron_variant

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

Variant ID Type Subtype PubMed ID
dgv5664n100 CNV gain 25217958
dgv5665n100 CNV gain 25217958
nsv1032003 CNV gain 25217958
nsv4819 CNV insertion 18451855
nsv523212 CNV gain 19592680
nsv950690 CNV duplication 24416366
nsv950691 CNV duplication 24416366
nsv980641 CNV duplication 23825009

Variation tolerance for EMB Gene

Residual Variation Intolerance Score: 47.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.65; 31.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EMB Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for EMB Gene

MalaCards: The human disease database

(3) MalaCards diseases for EMB Gene - From: DISEASES

Disorder Aliases PubMed IDs
splenic manifestation of leukemia
  • splenic leukemia
thymus lymphoma
  • thymic lymphoma
spleen cancer
  • malignant splenic tumor
- elite association - COSMIC cancer census association via MalaCards
Search EMB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EMB

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

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

Publications for EMB Gene

  1. Embigin, a developmentally expressed member of the immunoglobulin super family, is also expressed during regression of prostate and mammary gland. (PMID: 9438341) Guenette RS … Tenniswood M (Developmental genetics 1997) 2 3 22 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. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. Embigin is overexpressed in pancreatic ductal adenocarcinoma and regulates cell motility through epithelial to mesenchymal transition via the TGF-β pathway. (PMID: 25773908) Jung DE … Song SY (Molecular carcinogenesis 2016) 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 EMB Gene

Sources for EMB Gene

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