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EMP2 (epithelial membrane protein 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2013
Gene nameGene Name - the full gene name approved by the HGNC.
Epithelial membrane protein 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
EMP2
SynonymsGene synonyms aliases
XMP
ChromosomeChromosome number
16
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.13
SummarySummary of gene provided in NCBI Entrez 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,
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs587777481 G>A Pathogenic Stop gained, coding sequence variant
rs587777482 C>T Pathogenic Missense variant, coding sequence variant
rs730882194 G>C Pathogenic Missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT703968 hsa-miR-548c-3p HITS-CLIP 23313552
MIRT703967 hsa-miR-6771-3p HITS-CLIP 23313552
MIRT703966 hsa-miR-4802-3p HITS-CLIP 23313552
MIRT703965 hsa-miR-3675-3p HITS-CLIP 23313552
MIRT703963 hsa-miR-4434 HITS-CLIP 23313552
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0001765 Process Membrane raft assembly ISS
GO:0001913 Process T cell mediated cytotoxicity ISS
GO:0001952 Process Regulation of cell-matrix adhesion IBA 21873635
GO:0001954 Process Positive regulation of cell-matrix adhesion IDA 16216233
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P54851
Protein name Epithelial membrane protein 2 (EMP-2) (Protein XMP)
Protein function Functions as a key regulator of cell membrane composition by regulating protein surface expression. Also, plays a role in regulation of processes including cell migration, cell proliferation, cell contraction and cell adhesion. Regulates transep
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00822 PMP22_Claudin
1 160
PMP-22/EMP/MP20/Claudin family
Family
Sequence
Sequence length 167
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
  Focal adhesion  
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs120074176, rs786205019 20732626
Glomerulonephritis Glomerulonephritis, Minimal Change rs778043831
Nephrotic syndrome Nephrotic Syndrome, NEPHROTIC SYNDROME, TYPE 10 rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391 24814193
Unknown
Disease name Disease term dbSNP ID References
Genetic steroid-resistant nephrotic syndrome Genetic steroid-resistant nephrotic syndrome
Nephritis NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 24814193
Steroid-sensitive nephrotic syndrome Steroid-sensitive nephrotic syndrome 24814193

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