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This gene encodes a tetraspan protein of the PMP22/EMP family. The encoded protein regulates cell membrane composition. It has been associated with various functions including endocytosis, cell signaling, cell proliferation, cell migration, cell adhesion, cell death, cholesterol homeostasis, urinary albumin excretion, and embryo implantation. It is known to negatively regulate ... See more...
Aliases for EMP2 Gene
External Ids for EMP2 Gene
- HGNC: 3334
- NCBI Entrez Gene: 2013
- Ensembl: ENSG00000213853
- OMIM®: 602334
- UniProtKB/Swiss-Prot: P54851
Previous GeneCards Identifiers for EMP2 Gene
- GC16M010419
- GC16M010771
- GC16M010588
- GC16M010593
- GC16M010529
- GC16M010622
Summaries for EMP2 Gene
-
This gene encodes a tetraspan protein of the PMP22/EMP family. The encoded protein regulates cell membrane composition. It has been associated with various functions including endocytosis, cell signaling, cell proliferation, cell migration, cell adhesion, cell death, cholesterol homeostasis, urinary albumin excretion, and embryo implantation. It is known to negatively regulate caveolin-1, a scaffolding protein which is the main component of the caveolae plasma membrane invaginations found in most cell types. Through activation of PTK2 it positively regulates vascular endothelial growth factor A. It also modulates the function of specific integrin isomers in the plasma membrane. Up-regulation of this gene has been linked to cancer progression in multiple different tissues. Mutations in this gene have been associated with nephrotic syndrome type 10 (NPHS10). [provided by RefSeq, Mar 2015]
GeneCards Summary for EMP2 Gene
EMP2 (Epithelial Membrane Protein 2) is a Protein Coding gene. Diseases associated with EMP2 include Nephrotic Syndrome, Type 10 and Genetic Steroid-Resistant Nephrotic Syndrome. Gene Ontology (GO) annotations related to this gene include protein kinase binding and kinase binding. An important paralog of this gene is EMP1.
UniProtKB/Swiss-Prot Summary for EMP2 Gene
-
Functions as a key regulator of cell membrane composition by regulating proteins surface expression. Also, plays a role in regulation of processes including cell migration, cell proliferation, cell contraction and cell adhesion. Negatively regulates caveolae formation by reducing CAV1 expression and CAV1 amount by increasing lysosomal degradation (PubMed:24814193). Facilitates surface trafficking and formation of lipid rafts bearing GPI-anchor proteins (By similarity). Regulates surface expression of MHC1 and ICAM1 proteins increasing susceptibility to T-cell mediated cytotoxicity (By similarity). Regulates the plasma membrane expression of the integrin heterodimers ITGA6-ITGB1, ITGA5-ITGB3 and ITGA5-ITGB1 resulting in modulation of cell-matrix adhesion (PubMed:16216233). Also regulates many processes through PTK2. Regulates blood vessel endothelial cell migration and angiogenesis by regulating VEGF protein expression through PTK2 activation (PubMed:23439602). Regulates cell migration and cell contraction through PTK2 and SRC activation (PubMed:21637765, PubMed:22728127). Regulates focal adhesion density, F-actin conformation and cell adhesion capacity through interaction with PTK2 (PubMed:19494199). Positively regulates cell proliferation (PubMed:24814193). Plays a role during cell death and cell blebbing (PubMed:12107182). Promotes angiogenesis and vasculogenesis through induction of VEGFA via a HIF1A-dependent pathway (PubMed:23334331). Also plays a role in embryo implantation by regulating surface trafficking of integrin heterodimer ITGA5-ITGB3 (PubMed:16487956). May play a role in glomerular filtration (By similarity).
Additional gene information for EMP2 Gene
- HGNC (3334)
- NCBI Entrez Gene (2013)
- Ensembl (ENSG00000213853)
- OMIM® (602334)
- UniProtKB/Swiss-Prot (P54851)
- Open Targets Platform(ENSG00000213853)
- Monarch Initiative
- Search for EMP2 at DataMed
- Search for EMP2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EMP2 Gene
Genomics for EMP2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for EMP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around EMP2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EMP2
- Top Transcription factor binding sites by QIAGEN in the EMP2 gene promoter:
-
- AP-1
- c-Fos
- c-Jun
- FosB
- FOXJ2 (long isoform)
- Fra-1
- JunB
- JunD
- MAZR
- S8
Genomic Locations for EMP2 Gene
Latest Assembly
- chr16:10,528,422-10,580,632
- (GRCh38/hg38)
- Size:
- 52,211 bases
- Orientation:
- Minus strand
Previous Assembly
- chr16:10,622,279-10,674,455
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 52,177 bases
- Orientation:
- Minus strand
- chr16:10,622,279-10,674,555
- (GRCh37/hg19 by Ensembl)
- Size:
- 52,277 bases
- Orientation:
- Minus strand
Genomic View for EMP2 Gene
Genes around EMP2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16p13.13 by HGNC
- 16p13.13 by Entrez Gene
- 16p13.13 by Ensembl
EMP2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for EMP2 Gene
Proteins for EMP2 Gene
-
Protein details for EMP2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P54851-EMP2_HUMAN
- Recommended name:
- Epithelial membrane protein 2
- Protein Accession:
- P54851
- B2R7V6
- D3DUF8
Protein attributes for EMP2 Gene
- Size:
- 167 amino acids
- Molecular mass:
- 19199 Da
- Quaternary structure:
-
- Interacts with PTK2; regulates PTK2 activation and localization (PubMed:19494199, PubMed:21637765). Interacts with ITGB3; regulates the levels of the heterodimer ITGA5-ITGB3 integrin surface expression (PubMed:16216233). Interacts with P2RX7 (via C-terminus) (PubMed:12107182). Interacts with ITGB1; the interaction may be direct or indirect and ITGB1 has a heterodimer form (By similarity).
Protein Expression for EMP2 Gene
Post-translational modifications for EMP2 Gene
Other Protein References for EMP2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences EMP2 Antibody
- Novus Biologicals Antibodies for EMP2
-
Abcam antibodies for EMP2
- Invitrogen Antibodies for EMP2 (AFLGC-EMP2)
- antibodies-online: Show 10 available EMP2 Antibodies ranked by validation data
-
Custom Antibody ServicesProSci Antibodies for EMP2
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for EMP2
- Origene Custom Protein Services for EMP2
- antibodies-online: Search results for available EMP2 related products ranked by validation data
-
Abcam proteins for EMP2
Assay products for research
- antibodies-online: Search results for available EMP2 related products ranked by validation data
No data available for DME Specific Peptides for EMP2 Gene
Domains & Families for EMP2 Gene
Gene Families for EMP2 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted membrane proteins
Protein Domains for EMP2 Gene
- InterPro:
- Blocks:
-
- Epithelial membrane protein EMP-2 signature
- PMP-22/EMP/MP20 family
- ProtoNet:
Suggested Antigen Peptide Sequences for EMP2 Gene
- GenScript: Design optimal peptide antigens:
-
- Protein XMP (EMP2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P54851- Family:
-
- Belongs to the PMP-22/EMP/MP20 family.
Function for EMP2 Gene
Molecular function for EMP2 Gene
- UniProtKB/Swiss-Prot Function:
- Functions as a key regulator of cell membrane composition by regulating proteins surface expression. Also, plays a role in regulation of processes including cell migration, cell proliferation, cell contraction and cell adhesion. Negatively regulates caveolae formation by reducing CAV1 expression and CAV1 amount by increasing lysosomal degradation (PubMed:24814193). Facilitates surface trafficking and formation of lipid rafts bearing GPI-anchor proteins (By similarity). Regulates surface expression of MHC1 and ICAM1 proteins increasing susceptibility to T-cell mediated cytotoxicity (By similarity). Regulates the plasma membrane expression of the integrin heterodimers ITGA6-ITGB1, ITGA5-ITGB3 and ITGA5-ITGB1 resulting in modulation of cell-matrix adhesion (PubMed:16216233). Also regulates many processes through PTK2. Regulates blood vessel endothelial cell migration and angiogenesis by regulating VEGF protein expression through PTK2 activation (PubMed:23439602). Regulates cell migration and cell contraction through PTK2 and SRC activation (PubMed:21637765, PubMed:22728127). Regulates focal adhesion density, F-actin conformation and cell adhesion capacity through interaction with PTK2 (PubMed:19494199). Positively regulates cell proliferation (PubMed:24814193). Plays a role during cell death and cell blebbing (PubMed:12107182). Promotes angiogenesis and vasculogenesis through induction of VEGFA via a HIF1A-dependent pathway (PubMed:23334331). Also plays a role in embryo implantation by regulating surface trafficking of integrin heterodimer ITGA5-ITGB3 (PubMed:16487956). May play a role in glomerular filtration (By similarity).
- UniProtKB/Swiss-Prot Induction:
- Up-regulated by progesterone, increasing plasma membrane expression.
- GENATLAS Biochemistry:
- epithelial membrane protein 2
Phenotypes From GWAS Catalog for EMP2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005178 | integrin binding | IPI | 16216233 |
| GO:0005515 | protein binding | IPI | 12107182 |
| GO:0019900 | kinase binding | IPI | 19494199 |
| GO:0019901 | protein kinase binding | IPI | 21637765 |
Phenotypes for EMP2 Gene
- MGI mutant phenotypes for EMP2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for EMP2:
-
- Increased viability
- no effect
- Decreased vaccinia virus (VACV) infection
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Inconclusive
- Increased circadian period length
- Decreased viability in glioblastoma multiforme (GBM) lineage
- Dynamic nuclei (hole, folded or small irregular), decreased viability (cell death)
- Increased G1 DNA content
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Increased shRNA abundance with PLX4720
Animal Models for research
-
Taconic Biosciences Mouse Models for EMP2
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for EMP2 - Starting at $85 >
- * EMP2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for EMP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EMP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for EMP2
miRNA for EMP2 Gene
- miRTarBase miRNAs that target EMP2
-
- mmu-miR-362-5p (MIRT009008)
- mmu-miR-340-5p (MIRT010670)
- hsa-miR-153-5p (MIRT073735)
- hsa-miR-1250-3p (MIRT073739)
- hsa-miR-3165 (MIRT529074)
- hsa-miR-6880-5p (MIRT529075)
- hsa-miR-8071 (MIRT529076)
- hsa-miR-4790-3p (MIRT529077)
- mmu-miR-1903 (MIRT593289)
- mmu-miR-207 (MIRT593290)
- hsa-miR-6079 (MIRT629556)
- hsa-miR-6514-3p (MIRT629557)
- hsa-miR-7977 (MIRT629558)
- hsa-miR-24-3p (MIRT629559)
- hsa-miR-4284 (MIRT629560)
- hsa-miR-3202 (MIRT629561)
- hsa-miR-4533 (MIRT629562)
- hsa-miR-6847-3p (MIRT629563)
- hsa-miR-6811-3p (MIRT629564)
- hsa-miR-214-5p (MIRT629565)
- hsa-miR-5693 (MIRT629566)
- hsa-miR-383-3p (MIRT629567)
- hsa-miR-3149 (MIRT658661)
- hsa-miR-767-5p (MIRT658662)
- hsa-miR-502-3p (MIRT658663)
- hsa-miR-501-3p (MIRT658664)
- hsa-miR-7850-5p (MIRT658665)
- hsa-miR-5004-3p (MIRT658666)
- hsa-miR-6833-3p (MIRT658667)
- hsa-miR-4768-5p (MIRT658668)
- hsa-miR-548aw (MIRT658669)
- hsa-miR-4753-3p (MIRT658670)
- hsa-miR-6873-3p (MIRT658671)
- hsa-miR-1290 (MIRT658672)
- hsa-miR-876-5p (MIRT658673)
- hsa-miR-3167 (MIRT658674)
- hsa-miR-1468-3p (MIRT658675)
- hsa-miR-548x-5p (MIRT658676)
- hsa-miR-548g-5p (MIRT658677)
- hsa-miR-548f-5p (MIRT658678)
- hsa-miR-548aj-5p (MIRT658679)
- hsa-miR-130b-5p (MIRT658680)
- hsa-miR-6817-3p (MIRT658681)
- hsa-miR-7110-3p (MIRT658682)
- hsa-miR-548x-3p (MIRT658683)
- hsa-miR-548j-3p (MIRT658684)
- hsa-miR-548aq-3p (MIRT658685)
- hsa-miR-548am-3p (MIRT658686)
- hsa-miR-548aj-3p (MIRT658687)
- hsa-miR-548ah-3p (MIRT658688)
- hsa-miR-548ae-3p (MIRT658689)
- hsa-miR-8070 (MIRT670375)
- hsa-miR-3187-3p (MIRT670376)
- hsa-miR-4435 (MIRT670377)
- hsa-miR-588 (MIRT670378)
- hsa-miR-4701-5p (MIRT670379)
- hsa-miR-548s (MIRT670380)
- hsa-miR-640 (MIRT670381)
- hsa-miR-203b-3p (MIRT670382)
- hsa-miR-7158-3p (MIRT670383)
- hsa-miR-378a-5p (MIRT670384)
- hsa-miR-6131 (MIRT670385)
- hsa-miR-4755-3p (MIRT670386)
- hsa-miR-6759-3p (MIRT670387)
- hsa-miR-4680-5p (MIRT670388)
- hsa-miR-4635 (MIRT670389)
- hsa-miR-3663-5p (MIRT670390)
- hsa-miR-3653-5p (MIRT670391)
- hsa-miR-6747-3p (MIRT670392)
- hsa-miR-6821-3p (MIRT676937)
- hsa-miR-6790-3p (MIRT676938)
- hsa-miR-150-5p (MIRT676939)
- hsa-miR-186-3p (MIRT676940)
- hsa-miR-3934-5p (MIRT676941)
- hsa-miR-764 (MIRT676942)
- hsa-miR-125a-3p (MIRT676943)
- hsa-miR-4531 (MIRT703960)
- hsa-miR-4684-5p (MIRT703961)
- hsa-miR-5703 (MIRT703962)
- hsa-miR-4434 (MIRT703963)
- hsa-miR-4516 (MIRT703964)
- hsa-miR-3675-3p (MIRT703965)
- hsa-miR-4802-3p (MIRT703966)
- hsa-miR-6771-3p (MIRT703967)
- hsa-miR-548c-3p (MIRT703968)
- hsa-miR-129-5p (MIRT783478)
- hsa-miR-3119 (MIRT784564)
- hsa-miR-651-3p (MIRT788324)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EMP2
- Browse OriGene Inhibitory RNA Products For EMP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EMP2
Clone products for research
- Applied Biological Materials (abm): Clones for EMP2 - Starting at $45 >
- * EMP2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for EMP2
- Addgene plasmids for EMP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EMP2
Cell Lines for research
-
Horizon Cell Lines for EMP2
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for EMP2 Gene
Localization for EMP2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for EMP2 Gene
- Golgi apparatus membrane. Multi-pass membrane protein. Cell membrane. Apical cell membrane. Membrane raft. Cytoplasm. Nucleus. Note=Localizes in cytoplasm, foot processes and cell bodies of podocytes and nucleus of endothelial cells of kidney. Localizes to the apical cell surface in the luminal epithelium and glandular epithelium. Colocalized with ITGB1 and GPI-anchor proteins on plasma membrane. {ECO:0000250 UniProtKB:O88662, ECO:0000250 UniProtKB:Q66HH2}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 4 |
| golgi apparatus | 4 |
| cytosol | 3 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
- Cytosol (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IEA | -- |
| GO:0005634 | nucleus | ISS | -- |
| GO:0005737 | cytoplasm | IBA,IDA | 21637765 |
| GO:0005794 | Golgi apparatus | ISS | -- |
| GO:0005829 | cytosol | IEA | -- |
Pathways & Interactions for EMP2 Gene
Interacting Proteins for EMP2 Gene
GPS-Prot Interaction Network for EMP2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001765 | membrane raft assembly | ISS | -- |
| GO:0001913 | T cell mediated cytotoxicity | ISS | -- |
| GO:0001952 | regulation of cell-matrix adhesion | IBA | 21873635 |
| GO:0001954 | positive regulation of cell-matrix adhesion | IDA | 16216233 |
| GO:0003093 | regulation of glomerular filtration | IDA | 24814193 |
No data available for Pathways by source and SIGNOR curated interactions for EMP2 Gene
Transcripts for EMP2 Gene
mRNA/cDNA for EMP2 Gene
- 1 REFSEQ mRNAs :
- 22 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000342147 3582 nts (view in UCSC)
- ENST00000359543 5097 nts (view in UCSC)
- ENST00000536829 781 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for EMP2 - Starting at $85 >
- * EMP2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for EMP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EMP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for EMP2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EMP2
- Browse OriGene Inhibitory RNA Products For EMP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EMP2
Clone products for research
- Applied Biological Materials (abm): Clones for EMP2 - Starting at $45 >
- * EMP2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for EMP2
- Addgene plasmids for EMP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EMP2
Relevant External Links for EMP2 Gene
- GeneLoc Exon Structure for
- EMP2
Expression for EMP2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Muscle Progenitor Cells Mandibular Arch Muscles
- Muscle Progenitor Cells Hyoid Arch Muscles
-
Brain (Nervous System)
- Adult Endothelial Cells Blood Brain Barrier
- Medulla Oblongata
-
Trophoblast (Extraembryonic Tissues)
- Mural Trophectoderm Cells Mural Trophectoderm
-
Endothelium (Cardiovascular System)
- Adult Endothelial Cells Blood Brain Barrier
- Gut Tube (Gastrointestinal Tract)
- Lung (Respiratory System)
- Neural Tube (Nervous System)
- Thymus (Hematopoietic System)
- Inner Cell Mass (Early Embryonic Tissues)
mRNA differential expression in normal tissues according to GTEx for EMP2 Gene
This gene is overexpressed in Lung (x6.1).
This gene is overexpressed in Ovary (51.7) and Liver (12.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EMP2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EMP2
SOURCE GeneReport for Unigene cluster for EMP2 Gene:
Hs.531561mRNA Expression by UniProt/SwissProt for EMP2 Gene:
P54851-EMP2_HUMAN
Tissue specificity:
Expressed in ciliary body epithelia, sclera, cornea, and retinal pigment epithelium (at protein level) (PubMed:12710941).
Evidence on tissue expression from TISSUES for EMP2 Gene
- Lung(4.9)
- Spleen(4.3)
- Intestine(2.9)
- Skin(2.7)
- Heart(2.3)
- Nervous system(2.3)
- Liver(2.2)
- Kidney(2.1)
- Eye(2.1)
- Muscle(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for EMP2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- immune
- integumentary
- lymphatic
- respiratory
- urinary
Regions:
Thorax:
- lung
Abdomen:
- kidney
General:
- blood
- blood vessel
- coagulation system
- lymph node
- lymph vessel
- red blood cell
- skin
- white blood cell
Primer products for research
-
OriGene qPCR primer pairs for EMP2
-
OriGene qPCR primer pairs and template standards for EMP2
Gene Expression Assays for research
Orthologs for EMP2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | EMP2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | EMP2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | EMP2 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Emp2 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Emp2 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | EMP2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | EMP2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | EMP2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | EMP2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | emp2 30 |
|
||
| Str.2727 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC52916 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | emp2 30 31 |
|
OneToOne |
- Species where no ortholog for EMP2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- Fruit Fly (Drosophila melanogaster)
- 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 Vase (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 EMP2 Gene
- ENSEMBL:
- Gene Tree for EMP2 (if available)
- TreeFam:
- Gene Tree for EMP2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for EMP2: view image
Paralogs for EMP2 Gene
Variants for EMP2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EMP2 Gene
| SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1468756555 | Uncertain Significance: not provided | 10,538,037(-) |
G/C NM_001424.6(EMP2):c.207C>G (p.Ile69Met) |
MISSENSE | |
| rs1504883 | Benign: not specified | 10,538,088(-) |
G/A NM_001424.6(EMP2):c.170-14C>T |
INTRON | |
| rs1567199317 | Uncertain Significance: not provided | 10,532,987(-) |
T/C NM_001424.6(EMP2):c.422A>G (p.Tyr141Cys) |
MISSENSE | |
| rs587777481 | Pathogenic: Nephrotic syndrome, type 10 | 10,538,060(-) |
G/A NM_001424.6(EMP2):c.184C>T (p.Gln62Ter) |
NONSENSE | |
| rs587777482 | Pathogenic: Nephrotic syndrome, type 10. Nephrotic syndrome 10 (NPHS10) [MIM:615861] | 10,547,590(-) |
C/Tp.Ala10Thr NM_001424.6(EMP2):c.28G>A (p.Ala10Thr) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2663799 | CNV | deletion | 23128226 |
| esv3637903 | CNV | loss | 21293372 |
| esv3637906 | CNV | loss | 21293372 |
| esv3892791 | CNV | loss | 25118596 |
| nsv1040428 | CNV | gain | 25217958 |
| nsv1043748 | CNV | gain | 25217958 |
| nsv1051406 | CNV | loss | 25217958 |
| nsv516716 | CNV | loss | 19592680 |
| nsv528167 | CNV | loss | 19592680 |
Residual Variation Intolerance Score:
39.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.30;
6.73% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for EMP2 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EMP2 Gene
Disorders for EMP2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| nephrotic syndrome, type 10 |
|
|
| genetic steroid-resistant nephrotic syndrome |
|
|
| nephrotic syndrome |
|
|
| diamond-blackfan anemia 10 |
|
|
| pyosalpinx |
|
|
Search EMP2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
EMP2_HUMAN- Nephrotic syndrome 10 (NPHS10) [MIM:615861]: A form of nephrotic syndrome, a renal disease clinically characterized by focal segmental glomerulosclerosis, progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. NPHS10 is a steroid-sensitive form characterized by onset in childhood and remission without end-stage kidney disease. {ECO:0000269 PubMed:24814193}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for EMP2
- Genetic Association Database
- (GAD)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for EMP2 Gene
Publications for EMP2 Gene
- Epithelial membrane protein-2 regulates surface expression of alphavbeta3 integrin in the endometrium. (PMID: 16216233) Wadehra M … Braun J (Developmental biology 2005) 2 3 4 23
- Mutations in EMP2 cause childhood-onset nephrotic syndrome. (PMID: 24814193) Gee HY … Hildebrandt F (American journal of human genetics 2014) 3 4 74
- Functional consequences of interactions between FAK and epithelial membrane protein 2 (EMP2). (PMID: 19494199) Morales SA … Gordon LK (Investigative ophthalmology & visual science 2009) 3 4 23
- Steroid hormone regulation of EMP2 expression and localization in the endometrium. (PMID: 18400107) Wadehra M … Braun J (Reproductive biology and endocrinology : RB&E 2008) 3 4 23
- Epithelial membrane protein-2 is expressed in discrete anatomical regions of the eye. (PMID: 12710941) Wadehra M … Goodglick L (Experimental and molecular pathology 2003) 3 4 23
ExternalLinks
Products for EMP2 Gene
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Sources for EMP2 Gene
- (1) GeneCards
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