LOCUS       NM_001424               5097 bp    mRNA    linear   PRI 27-APR-2025
DEFINITION  Homo sapiens epithelial membrane protein 2 (EMP2), mRNA.
ACCESSION   NM_001424
VERSION     NM_001424.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5097)
  AUTHORS   Mozaffari,K., Mekonnen,M., Harary,M., Lum,M., Aguirre,B.,
            Chandla,A., Wadehra,M. and Yang,I.
  TITLE     Epithelial membrane protein 2 (EMP2): A systematic review of its
            implications in pathogenesis
  JOURNAL   Acta Histochem 125 (1), 151976 (2023)
   PUBMED   36455339
  REMARK    GeneRIF: Epithelial membrane protein 2 (EMP2): A systematic review
            of its implications in pathogenesis.
            Review article
REFERENCE   2  (bases 1 to 5097)
  AUTHORS   Sun,M., Cherian,N., Liu,L., Chan,A.M., Aguirre,B., Chu,A.,
            Strawbridge,J., Kim,E.S., Lin,M.C., Tsui,I., Gordon,L.K. and
            Wadehra,M.
  TITLE     Epithelial membrane protein 2 (EMP2) regulates hypoxia-induced
            angiogenesis in the adult retinal pigment epithelial cell lines
  JOURNAL   Sci Rep 12 (1), 19432 (2022)
   PUBMED   36371458
  REMARK    GeneRIF: Epithelial membrane protein 2 (EMP2) regulates
            hypoxia-induced angiogenesis in the adult retinal pigment
            epithelial cell lines.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5097)
  AUTHORS   Kim,E.K. and Koo,J.S.
  TITLE     Expression of epithelial membrane protein (EMP) 1, EMP 2, and EMP 3
            in thyroid cancer
  JOURNAL   Histol Histopathol 37 (1), 51-61 (2022)
   PUBMED   34617578
  REMARK    GeneRIF: Expression of epithelial membrane protein (EMP) 1, EMP 2,
            and EMP 3 in thyroid cancer.
REFERENCE   4  (bases 1 to 5097)
  AUTHORS   Li,C.F., Chan,T.C., Pan,C.T., Vejvisithsakul,P.P., Lai,J.C.,
            Chen,S.Y., Hsu,Y.W., Shiao,M.S. and Shiue,Y.L.
  TITLE     EMP2 induces cytostasis and apoptosis via the TGFbeta/SMAD/SP1 axis
            and recruitment of P2RX7 in urinary bladder urothelial carcinoma
  JOURNAL   Cell Oncol (Dordr) 44 (5), 1133-1150 (2021)
   PUBMED   34339014
  REMARK    GeneRIF: EMP2 induces cytostasis and apoptosis via the
            TGFbeta/SMAD/SP1 axis and recruitment of P2RX7 in urinary bladder
            urothelial carcinoma.
            Erratum:[Cell Oncol (Dordr). 2024 Oct;47(5):2015-2017. doi:
            10.1007/s13402-024-00985-z. PMID: 39225904]
REFERENCE   5  (bases 1 to 5097)
  AUTHORS   Ma,Y., Schroder,D.C., Nenkov,M., Rizwan,M.N., Abubrig,M.,
            Sonnemann,J., Murrieta-Coxca,J.M., Morales-Prieto,D.M.,
            Westermann,M., Gassler,N. and Chen,Y.
  TITLE     Epithelial Membrane Protein 2 Suppresses Non-Small Cell Lung Cancer
            Cell Growth by Inhibition of MAPK Pathway
  JOURNAL   Int J Mol Sci 22 (6), 2944 (2021)
   PUBMED   33799364
  REMARK    GeneRIF: Epithelial Membrane Protein 2 Suppresses Non-Small Cell
            Lung Cancer Cell Growth by Inhibition of MAPK Pathway.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5097)
  AUTHORS   Wilson,H.L., Wilson,S.A., Surprenant,A. and North,R.A.
  TITLE     Epithelial membrane proteins induce membrane blebbing and interact
            with the P2X7 receptor C terminus
  JOURNAL   J Biol Chem 277 (37), 34017-34023 (2002)
   PUBMED   12107182
REFERENCE   7  (bases 1 to 5097)
  AUTHORS   Street,V.A., Goldy,J.D., Golden,A.S., Tempel,B.L., Bird,T.D. and
            Chance,P.F.
  TITLE     Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p
            identifies a novel locus for demyelinating neuropathies
  JOURNAL   Am J Hum Genet 70 (1), 244-250 (2002)
   PUBMED   11713717
  REMARK    GeneRIF: evaluation as candidate gene for Charcot-Marie-Tooth
            disease type 1C on chromosome 16p
REFERENCE   8  (bases 1 to 5097)
  AUTHORS   Liehr,T., Kuhlenbaumer,G., Wulf,P., Taylor,V., Suter,U., Van
            Broeckhoven,C., Lupski,J.R., Claussen,U. and Rautenstrauss,B.
  TITLE     Regional localization of the human epithelial membrane protein
            genes 1, 2, and 3 (EMP1, EMP2, EMP3) to 12p12.3, 16p13.2, and
            19q13.3
  JOURNAL   Genomics 58 (1), 106-108 (1999)
   PUBMED   10331954
REFERENCE   9  (bases 1 to 5097)
  AUTHORS   Ben-Porath,I. and Benvenisty,N.
  TITLE     Characterization of a tumor-associated gene, a member of a novel
            family of genes encoding membrane glycoproteins
  JOURNAL   Gene 183 (1-2), 69-75 (1996)
   PUBMED   8996089
REFERENCE   10 (bases 1 to 5097)
  AUTHORS   Taylor,V. and Suter,U.
  TITLE     Epithelial membrane protein-2 and epithelial membrane protein-3:
            two novel members of the peripheral myelin protein 22 gene family
  JOURNAL   Gene 175 (1-2), 115-120 (1996)
   PUBMED   8917086
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BF981157.1, BC009687.1,
            AK096403.1, AF190163.1, DA646653.1, BF982173.1, AL600791.1,
            AC027277.5, AK127600.1, BC016019.1, BP395690.1, BU951297.1 and
            AA854747.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001424.5.
            
            Summary: 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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BG546881.1, SRR1803617.41477.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155770 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000359543.8/ ENSP00000352540.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-544               BF981157.1         101-644
            545-760             BC009687.1         554-769
            761-1770            AK096403.1         3-1012
            1771-2130           AF190163.1         308-667
            2131-2200           DA646653.1         348-417
            2201-2314           BF982173.1         38-151
            2315-2386           AL600791.1         139-210
            2387-2387           AC027277.5         64044-64044
            2388-2470           AL600791.1         212-294
            2471-2476           DA646653.1         688-693
            2477-2818           AL600791.1         301-642
            2819-3586           AK127600.1         12-779
            3587-4043           BC016019.1         385-841
            4044-4941           AK096403.1         1345-2242
            4942-4942           BP395690.1         497-497
            4943-5095           BU951297.1         1-153               c
            5096-5097           AA854747.1         6-7                 c
FEATURES             Location/Qualifiers
     source          1..5097
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.13"
     gene            1..5097
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /note="epithelial membrane protein 2"
                     /db_xref="GeneID:2013"
                     /db_xref="HGNC:HGNC:3334"
                     /db_xref="MIM:602334"
     exon            1..50
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /inference="alignment:Splign:2.1.0"
     exon            51..188
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /inference="alignment:Splign:2.1.0"
     CDS             111..614
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /codon_start=1
                     /product="epithelial membrane protein 2"
                     /protein_id="NP_001415.1"
                     /db_xref="CCDS:CCDS10541.1"
                     /db_xref="GeneID:2013"
                     /db_xref="HGNC:HGNC:3334"
                     /db_xref="MIM:602334"
                     /translation="MLVLLAFIIAFHITSAALLFIATVDNAWWVGDEFFADVWRICTN
                     NTNCTVINDSFQEYSTLQAVQATMILSTILCCIAFFIFVLQLFRLKQGERFVLTSIIQ
                     LMSCLCVMIAASIYTDRREDIHDKNAKFYPVTREGSYGYSYILAWVAFACTFISGMMY
                     LILRKRK"
     exon            189..279
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /inference="alignment:Splign:2.1.0"
     exon            280..426
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /inference="alignment:Splign:2.1.0"
     exon            427..5097
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4417..4422
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /note="hexamer: ATTAAA"
     polyA_site      4445
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /note="major polyA site"
     regulatory      4924..4929
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /note="hexamer: AATAAA"
     polyA_site      4942
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /note="major polyA site"
     regulatory      5073..5078
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EMP2"
                     /gene_synonym="XMP"
                     /note="hexamer: GATAAA"
     polyA_site      5097
                     /gene="EMP2"
                     /gene_synonym="XMP"
ORIGIN      
        1 acccccagcc agtccgtcga tccagctgcc agcgcagccg ccagcgccgg cacatcccgc
       61 tctgggcttt aaacgtgacc cctcgcctcg actcgccctg ccctgtgaaa atgttggtgc
      121 ttcttgcttt catcatcgcc ttccacatca cctctgcagc cttgctgttc attgccaccg
      181 tcgacaatgc ctggtgggta ggagatgagt tttttgcaga tgtctggaga atatgtacca
      241 acaacacgaa ttgcacagtc atcaatgaca gctttcaaga gtactccacg ctgcaggcgg
      301 tccaggccac catgatcctc tccaccattc tctgctgcat cgccttcttc atcttcgtgc
      361 tccagctctt ccgcctgaag cagggagaga ggtttgtcct aacctccatc atccagctaa
      421 tgtcatgtct gtgtgtcatg attgcggcct ccatttatac agacaggcgt gaagacattc
      481 acgacaaaaa cgcgaaattc tatcccgtga ccagagaagg cagctacggc tactcctaca
      541 tcctggcgtg ggtggccttc gcctgcacct tcatcagcgg catgatgtac ctgatactga
      601 ggaagcgcaa atagagttcc ggagctgggt tgcttctgct gcagtacaga atccacattc
      661 agataaccat tttgtatata atcattattt tttgaggttt ttctagcaaa cgtattgttt
      721 cctttaaaag ccaaaaaaaa aaaaaaaaaa aaaaaaaaaa gaaaaaagaa aaaaaaaatc
      781 caaaagagag aagagttttt gcattcttga gatcagagaa tagactatga aggctggtat
      841 tcagaactgc tgcccactca aaagtctcaa caagacacaa gcaaaaatcc agcaatgctc
      901 aaatccaaaa gcactcggca ggacatttct taaccatggg gctgtgatgg gaggagagga
      961 gaggctggga aagccgggtc tctggggacg tgcttcctat gggtttcagc tggcccaagc
     1021 ccctcccgaa tctctctgct agtggtgggt ggaagagggt gaggtggggt ataggagaag
     1081 aatgacagct tcctgagagg tttcacccaa gttccaagtg agaagcaggt gtagtccctg
     1141 gcattctgtc tgtatccaaa ccagagccca gccatccctc cggtatcggg gtgggtcaga
     1201 aaaagtctca cctcaatttg ccgacagtgt cacctgcttg ccttaggaat ggtcatcctt
     1261 aacctgcgtg ccagatttag actcgtcttt aggcaaaacc tacagcgccc cccccctcac
     1321 cccagaccta cagaatcaga gtcttcaagg gatggggcca gggaatctgc atttctaacg
     1381 cgctccctgg gcaacgcttc agatgcgttg aagttgggga ccacggtgcc tgggccaggt
     1441 cagcagagct gcctcgtaaa tgctggggta tcgtcatgtg gagatgggga ggtgaatgca
     1501 acccccacag caggccaaaa ccttggcctc catcgccaca gctgtctaca tctagggccc
     1561 caaaactcca ttcctgagcc atgtgaactc atagacacct tcagggtgtg gggtacagcc
     1621 tccttcccat cttatcccag aaggcctctc ccttcttgtc cagcccttca tgctacacct
     1681 ggctggcctc tcacccctat ttctagagcc tcagaggacc catccaccat tcattcattc
     1741 attcattcat tcattcattc attcattcat caacataaat cataacttgc atgcatgtgc
     1801 caggcacagg ggataccctc tagagacaat ctcctcctag ggctcatggc ctagtggagg
     1861 agacagatta aaacttaatt agaaaaactg gctgggtaca gtggctcatg cttgtaatcc
     1921 cagcactttg ggaggctgag gcgggtggat cacctgaggt caggagttca agaccagcct
     1981 ggccaaaatg gtaaaacctg tctctactaa aaatacaaaa atgagctggg cgtggtggtg
     2041 catgcctgta atcccagcta tcaggtggct gaggcaggag aatcacttga aatgggaggt
     2101 ggaggttgca gtgagccgag accgtgccac tgcactccag cctgggtgac agagtgagac
     2161 tccatctcaa aaaaagaaaa aaaagaaaag aaactaatta cacactgtga tggaggctgc
     2221 aaagaacacc actaagaatt caaaatcagc tgggtgcggt ggctcacacc tgtaatccca
     2281 gcactttggg aggctgaggc aggtggatca caaggtcagg agttcaagac cagcctggcc
     2341 aacatggtga aaccccgtct ctaccgaaaa tacaacaaaa ttagcccggt gtggtggcag
     2401 gtgcctgtaa tcccagctac ttaggaggct gaggcaggag aatcgcttga aactgggagg
     2461 cggaggtcgc agtgagccga gattcaccac tgcactccag cccaggcgac agtctgagac
     2521 tccgtctcaa aaataaaacg attcaaaatc gaggcctgtg gcatggtagg gaggctgctt
     2581 tacgcgtgcc tattattaaa tgctcctgga ggcatttagg tatttagatc agtctaaata
     2641 tagctccatt cagttcgtgc agatgacagt tattgggcag tacctgtctg tgtaacaccc
     2701 agaaaacatg tctgtggagg ggcccatggt cccgacagta aatgcggtga gagggtccca
     2761 tagagctgga gttttcaagc tttaggggtt cccgtgctgc ttgggacagg ctgattcaga
     2821 gggtctgggt gaatgatttc caggtgattt taagactgtg ctgagaaata gggcttttgg
     2881 ggccttgtcc ttcaggatca aagcatgatg ctgtgtggca atgcagacca cccaggaacc
     2941 atcccaggag ataagctctt tgcacctcat tgtctttttc tgcttatgtt ggagcaggat
     3001 gctgggggct gtcctgggat ggggtgtggg acctcgtgct atttaaatac ttttgcactt
     3061 gaccttctgc tgagtggagt ggtggtttgc catcagctca gttccagtgg agctgaagag
     3121 acatctggtt tgagtagttt tagggccacc atggatatct cttcaatgca ggattggctc
     3181 tttccatctg ctctttcatt catttgtttt tgacagatag tattaaatgt ttaccatgtt
     3241 ccaggcactg tgtgaggctc tgaaaataca ggggtgagca aatccagata tcctccctgc
     3301 catcatgaag tttggagtct atgagatagg accccctccc tatggagaag ccaccaatgc
     3361 agtacagggt gacctggggc cagagacagg acaaatgtca cctcctgcct ccatgagata
     3421 ctctcactag tcatattgtg ggcaagaatg tggcttacac ccctagggtt aacaggatgc
     3481 tacccaagct catggaggaa gttgaatctt aagttccctt gaaactttct accttggtgg
     3541 cttttctata attttctttt ttctttttct tttttttttt tttttttgag actgagtttt
     3601 gctcttgttg cccaggctgg agtgcagtgg caccatcttg gctcaccgca acctctgcct
     3661 cctgggttca agtgattctc ctgcctcagc ctcccgagta gctgggatta caggcatgtc
     3721 ccaccatgcc cagctaattt ttgtattttt agtagagatg gggtttctcc atgttggtca
     3781 ggctggtttc gaactcccaa cctcaggtga tccgcccacc tcagccttcc aaagtgctgg
     3841 gattacaggc atgagccact gcgtctggcc ttctataatt ttctggtagt cacgatggaa
     3901 acaaacaaaa caccttagaa ccagagatcg accccctcaa gcaatacatc aattcccttc
     3961 acaagaaacg tcggggctac atgagtatct gtgttgaatg cggtctgaaa tgatcctatg
     4021 gattttcccg gctggttgcc actgctgtac aacattcagt gcccacatcc acctgtgcca
     4081 ttaagctttt ttgagacatg agagatgcct cttccctgct gtatgacatg catttgggaa
     4141 gttggaaaga aatgacaaaa tcagggagaa aacatccaag cttcttacct gtagatagaa
     4201 tcagccctca cttggtgctt attaccagtt attcaagaac aataacaaca acaaaattag
     4261 tagacatcca agaagcacat attaggacca aagatagcat caactgtatt tgaaggaact
     4321 gtagtttgcg cattttatga catttttata aagtactgta attctttcat tgaggggcta
     4381 tgtgatggag acagactaac tcattttgtt atttgcatta aaattatttt gggtctctgt
     4441 tcaaatgagt ttggagaatg cttgacttgt tggtctgtgt gaatgtgtat atatatatac
     4501 ctgaatacag gaacatcgga gacctattca ctcccacaca ctctgctata gtttgcgtgc
     4561 ttttgtggac acccctcatg aacaggctgg cgctctagga cgctctgtgt tcactgatga
     4621 tgaagaaacc tagaactcca agcctgtttg taaacacact aaacacagtg gcctagatag
     4681 aaactgtatc gtagtttaaa atctgcctcg cgggatgtta ctaaactcgc taatagttta
     4741 aaggttactt acaatagagc aagttggaca attttgtggt gttggggaaa tgttagggca
     4801 aggcctagag gttcattttg aatcttggtt tgtgacttta gggtagttag aaactttcta
     4861 cttaatgtac ctttaaaata gtccattttc tatgttttgt ataatctgaa actgtacatg
     4921 gaaaataaag tttaaaacca gattgcccag agcaagactc taatgttccc aacggtgatg
     4981 acatctaggg cagaatgctg ccattttgag gggcaggggg tcagctgatt tctcatcaag
     5041 ataataatgt atggttttta cactaagcaa ctgataaatg gacaatttat cactgga
//
