LOCUS       NM_022772               3030 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens EPS8 signaling adaptor L2 (EPS8L2), mRNA.
ACCESSION   NM_022772 XM_938900 XM_943941 XM_943946 XM_943952 XM_943954
            XM_943956 XM_943960 XM_943963 XM_943966
VERSION     NM_022772.4
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 3030)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 3030)
  AUTHORS   Dahmani,M., Ammar-Khodja,F., Bonnet,C., Lefevre,G.M.,
            Hardelin,J.P., Ibrahim,H., Mallek,Z. and Petit,C.
  TITLE     EPS8L2 is a new causal gene for childhood onset autosomal recessive
            progressive hearing loss
  JOURNAL   Orphanet J Rare Dis 10, 96 (2015)
   PUBMED   26282398
  REMARK    GeneRIF: frame-shift variant (c.1014delC; p.Ser339Alafs*15) was
            identified in EPS8L2, encoding Epidermal growth factor receptor
            Pathway Substrate 8 L2, a protein of hair cells' stereocilia
            previously implicated in progressive deafness in the mouse
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3030)
  AUTHORS   Guo,Z., Neilson,L.J., Zhong,H., Murray,P.S., Zanivan,S. and
            Zaidel-Bar,R.
  TITLE     E-cadherin interactome complexity and robustness resolved by
            quantitative proteomics
  JOURNAL   Sci Signal 7 (354), rs7 (2014)
   PUBMED   25468996
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3030)
  AUTHORS   Kesimer,M., Scull,M., Brighton,B., DeMaria,G., Burns,K., O'Neal,W.,
            Pickles,R.J. and Sheehan,J.K.
  TITLE     Characterization of exosome-like vesicles released from human
            tracheobronchial ciliated epithelium: a possible role in innate
            defense
  JOURNAL   FASEB J 23 (6), 1858-1868 (2009)
   PUBMED   19190083
REFERENCE   5  (bases 1 to 3030)
  AUTHORS   Gonzalez-Begne,M., Lu,B., Han,X., Hagen,F.K., Hand,A.R.,
            Melvin,J.E. and Yates,J.R.
  TITLE     Proteomic analysis of human parotid gland exosomes by
            multidimensional protein identification technology (MudPIT)
  JOURNAL   J Proteome Res 8 (3), 1304-1314 (2009)
   PUBMED   19199708
REFERENCE   6  (bases 1 to 3030)
  AUTHORS   Gonzales,P.A., Pisitkun,T., Hoffert,J.D., Tchapyjnikov,D.,
            Star,R.A., Kleta,R., Wang,N.S. and Knepper,M.A.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   7  (bases 1 to 3030)
  AUTHORS   Offenhauser,N., Borgonovo,A., Disanza,A., Romano,P., Ponzanelli,I.,
            Iannolo,G., Di Fiore,P.P. and Scita,G.
  TITLE     The eps8 family of proteins links growth factor stimulation to
            actin reorganization generating functional redundancy in the
            Ras/Rac pathway
  JOURNAL   Mol Biol Cell 15 (1), 91-98 (2004)
   PUBMED   14565974
  REMARK    Erratum:[Mol Biol Cell. 2019 Sep 1;30(19):2535. doi:
            10.1091/mbc.E03-06-0427-corr.. PMID: 31465253]
REFERENCE   8  (bases 1 to 3030)
  AUTHORS   Tocchetti,A., Confalonieri,S., Scita,G., Di Fiore,P.P. and
            Betsholtz,C.
  TITLE     In silico analysis of the EPS8 gene family: genomic organization,
            expression profile, and protein structure
  JOURNAL   Genomics 81 (2), 234-244 (2003)
   PUBMED   12620401
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY074929.1, BC101481.1 and
            AK025824.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_022772.3.
            
            Summary: This gene encodes a member of the EPS8 gene family. The
            encoded protein, like other members of the family, is thought to
            link growth factor stimulation to actin organization, generating
            functional redundancy in the pathways that regulate actin
            cytoskeletal remodeling. [provided by RefSeq, Dec 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK025588.1, AK025824.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000318562.13/ ENSP00000320828.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-436               AY074929.1         137-572
            437-2337            BC101481.1         341-2241
            2338-3030           AK025824.1         2367-3059
FEATURES             Location/Qualifiers
     source          1..3030
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..3030
                     /gene="EPS8L2"
                     /gene_synonym="DFNB106; EPS8R2"
                     /note="EPS8 signaling adaptor L2"
                     /db_xref="GeneID:64787"
                     /db_xref="HGNC:HGNC:21296"
                     /db_xref="MIM:614988"
     exon            1..58
                     /gene="EPS8L2"
                     /gene_synonym="DFNB106; EPS8R2"
                     /inference="alignment:Splign:2.1.0"
     exon            59..180
                     /gene="EPS8L2"
                     /gene_synonym="DFNB106; EPS8R2"
                     /inference="alignment:Splign:2.1.0"
     CDS             137..2284
                     /gene="EPS8L2"
                     /gene_synonym="DFNB106; EPS8R2"
                     /note="EPS8-related protein 2; epidermal growth factor
                     receptor pathway substrate 8-related protein 2; EPS8 like
                     2"
                     /codon_start=1
                     /product="epidermal growth factor receptor kinase
                     substrate 8-like protein 2"
                     /protein_id="NP_073609.2"
                     /db_xref="CCDS:CCDS31328.1"
                     /db_xref="GeneID:64787"
                     /db_xref="HGNC:HGNC:21296"
                     /db_xref="MIM:614988"
                     /translation="MSQSGAVSCCPGATNGSLGRSDGVAKMSPKDLFEQRKKYSNSNV
                     IMHETSQYHVQHLATFIMDKSEAITSVDDAIRKLVQLSSKEKIWTQEMLLQVNDQSLR
                     LLDIESQEELEDFPLPTVQRSQTVLNQLRYPSVLLLVCQDSEQSKPDVHFFHCDEVEA
                     ELVHEDIESALADCRLGKKMRPQTLKGHQEKIRQRQSILPPPQGPAPIPFQHRGGDSP
                     EAKNRVGPQVPLSEPGFRRRESQEEPRAVLAQKIEKETQILNCALDDIEWFVARLQKA
                     AEAFKQLNQRKKGKKKGKKAPAEGVLTLRARPPSEGEFIDCFQKIKLAINLLAKLQKH
                     IQNPSAAELVHFLFGPLDLIVNTCSGPDIARSVSCPLLSRDAVDFLRGHLVPKEMSLW
                     ESLGESWMRPRSEWPREPQVPLYVPKFHSGWEPPVDVLQEAPWEVEGLASAPIEEVSP
                     VSRQSIRNSQKHSPTSEPTPPGDALPPVSSPHTHRGYQPTPAMAKYVKILYDFTARNA
                     NELSVLKDEVLEVLEDGRQWWKLRSRSGQAGYVPCNILGEARPEDAGAPFEQAGQKYW
                     GPASPTHKLPPSFPGNKDELMQHMDEVNDELIRKISNIRAQPQRHFRVERSQPVSQPL
                     TYESGPDEVRAWLEAKAFSPRIVENLGILTGPQLFSLNKEELKKVCGEEGVRVYSQLT
                     MQKAFLEKQQSGSELEELMNKFHSMNQRRGEDS"
     exon            181..236
                     /gene="EPS8L2"
                     /gene_synonym="DFNB106; EPS8R2"
                     /inference="alignment:Splign:2.1.0"
     exon            237..301
                     /gene="EPS8L2"
                     /gene_synonym="DFNB106; EPS8R2"
                     /inference="alignment:Splign:2.1.0"
     exon            302..463
                     /gene="EPS8L2"
                     /gene_synonym="DFNB106; EPS8R2"
                     /inference="alignment:Splign:2.1.0"
     exon            464..613
                     /gene="EPS8L2"
                     /gene_synonym="DFNB106; EPS8R2"
                     /inference="alignment:Splign:2.1.0"
     exon            614..693
                     /gene="EPS8L2"
                     /gene_synonym="DFNB106; EPS8R2"
                     /inference="alignment:Splign:2.1.0"
     exon            694..836
                     /gene="EPS8L2"
                     /gene_synonym="DFNB106; EPS8R2"
                     /inference="alignment:Splign:2.1.0"
     exon            837..904
                     /gene="EPS8L2"
                     /gene_synonym="DFNB106; EPS8R2"
                     /inference="alignment:Splign:2.1.0"
     exon            905..1031
                     /gene="EPS8L2"
                     /gene_synonym="DFNB106; EPS8R2"
                     /inference="alignment:Splign:2.1.0"
     exon            1032..1120
                     /gene="EPS8L2"
                     /gene_synonym="DFNB106; EPS8R2"
                     /inference="alignment:Splign:2.1.0"
     exon            1121..1195
                     /gene="EPS8L2"
                     /gene_synonym="DFNB106; EPS8R2"
                     /inference="alignment:Splign:2.1.0"
     exon            1196..1344
                     /gene="EPS8L2"
                     /gene_synonym="DFNB106; EPS8R2"
                     /inference="alignment:Splign:2.1.0"
     exon            1345..1477
                     /gene="EPS8L2"
                     /gene_synonym="DFNB106; EPS8R2"
                     /inference="alignment:Splign:2.1.0"
     exon            1478..1590
                     /gene="EPS8L2"
                     /gene_synonym="DFNB106; EPS8R2"
                     /inference="alignment:Splign:2.1.0"
     exon            1591..1696
                     /gene="EPS8L2"
                     /gene_synonym="DFNB106; EPS8R2"
                     /inference="alignment:Splign:2.1.0"
     exon            1697..1816
                     /gene="EPS8L2"
                     /gene_synonym="DFNB106; EPS8R2"
                     /inference="alignment:Splign:2.1.0"
     exon            1817..1889
                     /gene="EPS8L2"
                     /gene_synonym="DFNB106; EPS8R2"
                     /inference="alignment:Splign:2.1.0"
     exon            1890..2070
                     /gene="EPS8L2"
                     /gene_synonym="DFNB106; EPS8R2"
                     /inference="alignment:Splign:2.1.0"
     exon            2071..2203
                     /gene="EPS8L2"
                     /gene_synonym="DFNB106; EPS8R2"
                     /inference="alignment:Splign:2.1.0"
     exon            2204..3030
                     /gene="EPS8L2"
                     /gene_synonym="DFNB106; EPS8R2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3006..3011
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EPS8L2"
                     /gene_synonym="DFNB106; EPS8R2"
                     /note="hexamer: ATTAAA"
     polyA_site      3030
                     /gene="EPS8L2"
                     /gene_synonym="DFNB106; EPS8R2"
                     /note="major polyA site"
ORIGIN      
        1 agacggacgc accggcgagc gccgagggga caggccgagc gcggggcgcc ggaggcaggt
       61 gtgggacagg cactggcctc agaccggggc cacactgagg tctgcccttc tcccgctggc
      121 cgccacccaa gacaccatga gccagtccgg ggccgtgagc tgctgcccgg gtgccaccaa
      181 tggcagcctg ggccggtccg acggtgtggc caagatgagc cccaaggacc tgtttgagca
      241 gaggaagaag tattccaact ccaacgtcat catgcacgag acctcgcagt accacgtcca
      301 gcacctggcc acattcatca tggacaagag cgaagccatc acgtctgtgg acgacgccat
      361 ccggaagctg gtgcagctga gctccaagga gaagatctgg acccaggaga tgctgctgca
      421 ggtgaacgac cagtcgctgc ggctgctgga catcgagtca caggaggagc tggaagactt
      481 cccgctgccc acggtgcagc gcagccagac ggtcctcaac cagctgcgct acccgtctgt
      541 gctgctgctc gtgtgccagg actcggagca gagcaagccg gatgtccact tcttccactg
      601 cgatgaggtg gaggcagagc tggtgcacga ggacatcgag agcgcgttgg ccgactgccg
      661 gctgggcaag aagatgcggc cgcagaccct gaagggacac caggagaaga ttcggcagcg
      721 gcagtccatc ctgcctcctc cccagggccc ggcgcccatc cccttccagc accgcggcgg
      781 ggattccccg gaggccaaga atcgcgtggg cccgcaggtg ccactcagcg agccaggttt
      841 ccgccgtcgg gagtcgcagg aggagccgcg ggccgtgctg gctcagaaga tagagaagga
      901 gacgcaaatc ctcaactgcg ccctggacga catcgagtgg tttgtggccc ggctgcagaa
      961 ggcagccgag gctttcaagc agctgaacca gcggaaaaag gggaagaaga agggcaagaa
     1021 ggcgccagca gagggcgtcc tcacactgcg ggcacggccc ccctctgagg gcgagttcat
     1081 cgactgcttc cagaaaatca agctggcgat taacttgctg gcaaagctgc agaagcacat
     1141 ccagaacccc agcgccgcgg agctcgtgca cttcctcttc gggcctctgg acctgatcgt
     1201 caacacctgc agtggcccag acatcgcacg ctccgtctcc tgcccactgc tctcccgaga
     1261 tgccgtggac ttcctgcgcg gccacctggt ccctaaggag atgtcgctgt gggagtcact
     1321 gggagagagc tggatgcggc cccgttccga gtggccgcgg gagccacagg tgcccctcta
     1381 cgtgcccaag ttccacagcg gctgggagcc tcctgtggat gtgctgcagg aggccccctg
     1441 ggaggtggag gggctggcgt ctgcccccat cgaggaggtg agtccagtga gccgacagtc
     1501 cataagaaac tcccagaagc acagccccac ttcagagccc acccccccgg gggatgccct
     1561 accaccagtc agctccccac atactcacag gggctaccag ccaacaccag ccatggccaa
     1621 gtacgtcaag atcctgtatg acttcacagc ccgaaatgcc aacgagctat cggtgctcaa
     1681 ggatgaggtc ctagaggtgc tggaggacgg ccggcagtgg tggaagctgc gcagccgcag
     1741 cggccaggcg gggtacgtgc cctgcaacat cctaggcgag gcgcgaccgg aggacgccgg
     1801 cgccccgttc gagcaggccg gtcagaagta ctggggcccc gccagcccga cccacaagct
     1861 acccccaagc ttcccgggga acaaagacga gctcatgcag cacatggacg aggtcaacga
     1921 cgagctcatc cggaaaatca gcaacatcag ggcgcagcca cagaggcact tccgcgtgga
     1981 gcgcagccag cccgtgagcc agccgctcac ctacgagtcg ggtccggacg aggtccgcgc
     2041 ctggctggaa gccaaggcct tcagcccgcg gatcgtggag aacctgggca tcctgaccgg
     2101 gccgcagctc ttctccctca acaaggagga gctgaagaaa gtgtgcggcg aggagggcgt
     2161 ccgcgtgtac agccagctca ccatgcagaa ggccttcctg gagaagcagc aaagtgggtc
     2221 ggagctggaa gaactcatga acaagtttca ttccatgaat cagaggaggg gggaggacag
     2281 ctaggcccag ctgccttggg ctggggcctg cggaggggaa gcccacccac aatgcatgga
     2341 gtattatttt tatatgtgta tgtattttgt atcaaggaca cggagggggt gtggtgctgg
     2401 ctagaggtcc ctgcccctgt ctggaggcac aacgcccatc cttaggccaa acagtaccca
     2461 aggcctcagc ccacaccaag actaatctca gccaaacctg ctgcttggtg gtgccagccc
     2521 cttgtccacc ttctcttgag gccacagaac tccctggggc tggggcctct ttctctggcc
     2581 tcccctgtgc acctgggggg tcctggcccc tgtgatgctc ccccatcccc acccacttct
     2641 acatccatcc acaccccagg gtgagctgga gctccaggct ggccaggctg aacctcgcac
     2701 acacgcagag ttctgctccc tgaggggggc ccgggagggg ctccagcagg aggccgtggg
     2761 tgccattcgg gggaaagtgg gggaacgaca cacacttcac ctgcaagggc cgacaacgca
     2821 ggggacaccg tgccggcttc agacactccc agcgcccact cttacaggcc caggactgga
     2881 gctttctctg gccaagtttc aggccaatga tccccgcatg gtgttggggg tgctggtgtg
     2941 tcttggtgcc tggacttgag tctcacccta cagatgagag gtggctgagg caccagggct
     3001 aagcaattaa accagttaag tctcccagga
//
