LOCUS       NM_016938               1934 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens EGF containing fibulin extracellular matrix protein 2
            (EFEMP2), transcript variant 1, mRNA.
ACCESSION   NM_016938
VERSION     NM_016938.5
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 1934)
  AUTHORS   Sadeghipour,P., Valuian,M., Ghasemi,S., Rafiee,F., Pourirahim,M.,
            Mahmoodian,M., Maleki,M. and Kalayinia,S.
  TITLE     Whole-exome sequencing uncovers a novel EFEMP2 gene variant
            (c.C247T) associated with dominant nonsyndromic thoracic aortic
            aneurysm
  JOURNAL   Lab Med 55 (4), 447-453 (2024)
   PUBMED   38113391
  REMARK    GeneRIF: Whole-exome sequencing uncovers a novel EFEMP2 gene
            variant (c.C247T) associated with dominant nonsyndromic thoracic
            aortic aneurysm.
REFERENCE   2  (bases 1 to 1934)
  AUTHORS   Shen,X., Jin,X., Fang,S. and Chen,J.
  TITLE     EFEMP2 upregulates PD-L1 expression via EGFR/ERK1/2/c-Jun signaling
            to promote the invasion of ovarian cancer cells
  JOURNAL   Cell Mol Biol Lett 28 (1), 53 (2023)
   PUBMED   37420173
  REMARK    GeneRIF: EFEMP2 upregulates PD-L1 expression via EGFR/ERK1/2/c-Jun
            signaling to promote the invasion of ovarian cancer cells.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1934)
  AUTHORS   Nguyen,T.A.V., Lino,C.A., Hang,H.T., Alves,J.V., Thang,B.Q.,
            Shin,S.J., Sugiyama,K., Matsunaga,H., Takeyama,H., Yamashiro,Y. and
            Yanagisawa,H.
  TITLE     Protective Role of Endothelial Fibulin-4 in Valvulo-Arterial
            Integrity
  JOURNAL   J Am Heart Assoc 12 (1), e026942 (2023)
   PUBMED   36565192
  REMARK    GeneRIF: Protective Role of Endothelial Fibulin-4 in
            Valvulo-Arterial Integrity.
REFERENCE   4  (bases 1 to 1934)
  AUTHORS   Zhang,D., Liu,H., Wang,W., Xu,G., Yin,C. and Wang,S.
  TITLE     STEAP2 promotes osteosarcoma progression by inducing
            epithelial-mesenchymal transition via the PI3K/AKT/mTOR signaling
            pathway and is regulated by EFEMP2
  JOURNAL   Cancer Biol Ther 23 (1), 1-16 (2022)
   PUBMED   36316642
  REMARK    GeneRIF: STEAP2 promotes osteosarcoma progression by inducing
            epithelial-mesenchymal transition via the PI3K/AKT/mTOR signaling
            pathway and is regulated by EFEMP2.
REFERENCE   5  (bases 1 to 1934)
  AUTHORS   Gallagher,W.M., Greene,L.M., Ryan,M.P., Sierra,V., Berger,A.,
            Laurent-Puig,P. and Conseiller,E.
  TITLE     Human fibulin-4: analysis of its biosynthetic processing and mRNA
            expression in normal and tumour tissues
  JOURNAL   FEBS Lett 489 (1), 59-66 (2001)
   PUBMED   11231014
REFERENCE   6  (bases 1 to 1934)
  AUTHORS   Katsanis,N., Venable,S., Smith,J.R. and Lupski,J.R.
  TITLE     Isolation of a paralog of the Doyne honeycomb retinal dystrophy
            gene from the multiple retinopathy critical region on 11q13
  JOURNAL   Hum Genet 106 (1), 66-72 (2000)
   PUBMED   10982184
REFERENCE   7  (bases 1 to 1934)
  AUTHORS   Giltay,R., Timpl,R. and Kostka,G.
  TITLE     Sequence, recombinant expression and tissue localization of two
            novel extracellular matrix proteins, fibulin-3 and fibulin-4
  JOURNAL   Matrix Biol 18 (5), 469-480 (1999)
   PUBMED   10601734
REFERENCE   8  (bases 1 to 1934)
  AUTHORS   Gallagher,W.M., Argentini,M., Sierra,V., Bracco,L., Debussche,L.
            and Conseiller,E.
  TITLE     MBP1: a novel mutant p53-specific protein partner with oncogenic
            properties
  JOURNAL   Oncogene 18 (24), 3608-3616 (1999)
   PUBMED   10380882
REFERENCE   9  (bases 1 to 1934)
  AUTHORS   Loeys,B., De Paepe,A. and Urban,Z.
  TITLE     EFEMP2-Related Cutis Laxa
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   21563328
REFERENCE   10 (bases 1 to 1934)
  AUTHORS   Milewicz,D.M. and Cecchi,A.C.
  TITLE     Heritable Thoracic Aortic Disease Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301299
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP382163.1, BC010456.1,
            BQ478413.1, AF124486.1 and BC018871.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_016938.4.
            
            Summary: A large number of extracellular matrix proteins have been
            found to contain variations of the epidermal growth factor (EGF)
            domain and have been implicated in functions as diverse as blood
            coagulation, activation of complement and determination of cell
            fate during development. The protein encoded by this gene contains
            four EGF2 domains and six calcium-binding EGF2 domains. This gene
            is necessary for elastic fiber formation and connective tissue
            development. Defects in this gene are cause of an autosomal
            recessive cutis laxa syndrome. Alternatively spliced transcript
            variants have been identified for this gene. [provided by RefSeq,
            Jan 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the functional protein.
            
            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 :: SRR3476690.1057676.1,
                                           SRR3476690.151404.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000307998.11/ ENSP00000309953.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-68                BP382163.1         45-112
            69-899              BC010456.1         59-889
            900-900             BQ478413.1         454-454
            901-1550            BC010456.1         891-1540
            1551-1932           AF124486.1         1426-1807
            1933-1934           BC018871.2         1812-1813
FEATURES             Location/Qualifiers
     source          1..1934
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..1934
                     /gene="EFEMP2"
                     /gene_synonym="ARCL1B; FBLN4; MBP1; UPH1"
                     /note="EGF containing fibulin extracellular matrix protein
                     2"
                     /db_xref="GeneID:30008"
                     /db_xref="HGNC:HGNC:3219"
                     /db_xref="MIM:604633"
     exon            1..118
                     /gene="EFEMP2"
                     /gene_synonym="ARCL1B; FBLN4; MBP1; UPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            119..236
                     /gene="EFEMP2"
                     /gene_synonym="ARCL1B; FBLN4; MBP1; UPH1"
                     /inference="alignment:Splign:2.1.0"
     CDS             126..1457
                     /gene="EFEMP2"
                     /gene_synonym="ARCL1B; FBLN4; MBP1; UPH1"
                     /note="fibulin 4; mutant p53 binding protein 1; FIBL-4;
                     EGF containing fibulin like extracellular matrix protein
                     2"
                     /codon_start=1
                     /product="EGF-containing fibulin-like extracellular matrix
                     protein 2 precursor"
                     /protein_id="NP_058634.4"
                     /db_xref="CCDS:CCDS8116.1"
                     /db_xref="GeneID:30008"
                     /db_xref="HGNC:HGNC:3219"
                     /db_xref="MIM:604633"
                     /translation="MLPCASCLPGSLLLWALLLLLLGSASPQDSEEPDSYTECTDGYE
                     WDPDSQHCRDVNECLTIPEACKGEMKCINHYGGYLCLPRSAAVINDLHGEGPPPPVPP
                     AQHPNPCPPGYEPDDQDSCVDVDECAQALHDCRPSQDCHNLPGSYQCTCPDGYRKIGP
                     ECVDIDECRYRYCQHRCVNLPGSFRCQCEPGFQLGPNNRSCVDVNECDMGAPCEQRCF
                     NSYGTFLCRCHQGYELHRDGFSCSDIDECSYSSYLCQYRCINEPGRFSCHCPQGYQLL
                     ATRLCQDIDECESGAHQCSEAQTCVNFHGGYRCVDTNRCVEPYIQVSENRCLCPASNP
                     LCREQPSSIVHRYMTITSERSVPADVFQIQATSVYPGAYNAFQIRAGNSQGDFYIRQI
                     NNVSAMLVLARPVTGPREYVLDLEMVTMNSLMSYRASSVLRLTVFVGAYTF"
     exon            237..285
                     /gene="EFEMP2"
                     /gene_synonym="ARCL1B; FBLN4; MBP1; UPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            286..492
                     /gene="EFEMP2"
                     /gene_synonym="ARCL1B; FBLN4; MBP1; UPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            493..615
                     /gene="EFEMP2"
                     /gene_synonym="ARCL1B; FBLN4; MBP1; UPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            616..732
                     /gene="EFEMP2"
                     /gene_synonym="ARCL1B; FBLN4; MBP1; UPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            733..852
                     /gene="EFEMP2"
                     /gene_synonym="ARCL1B; FBLN4; MBP1; UPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            853..972
                     /gene="EFEMP2"
                     /gene_synonym="ARCL1B; FBLN4; MBP1; UPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            973..1099
                     /gene="EFEMP2"
                     /gene_synonym="ARCL1B; FBLN4; MBP1; UPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1100..1295
                     /gene="EFEMP2"
                     /gene_synonym="ARCL1B; FBLN4; MBP1; UPH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1296..1934
                     /gene="EFEMP2"
                     /gene_synonym="ARCL1B; FBLN4; MBP1; UPH1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1533..1538
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFEMP2"
                     /gene_synonym="ARCL1B; FBLN4; MBP1; UPH1"
                     /note="hexamer: AATAAA"
     polyA_site      1550
                     /gene="EFEMP2"
                     /gene_synonym="ARCL1B; FBLN4; MBP1; UPH1"
                     /note="major polyA site"
     regulatory      1909..1914
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFEMP2"
                     /gene_synonym="ARCL1B; FBLN4; MBP1; UPH1"
                     /note="hexamer: TATAAA"
     polyA_site      1934
                     /gene="EFEMP2"
                     /gene_synonym="ARCL1B; FBLN4; MBP1; UPH1"
                     /note="major polyA site"
ORIGIN      
        1 gcttcctggg gccgcgcgtc cagggagctg tgccgtccgc ccgtccgtct gcccgcaggc
       61 attgcccgag ccagccgagc cgccagagcc gcgggccgcg ggggtgtcgc gggcccaacc
      121 ccaggatgct cccctgcgcc tcctgcctac ccgggtctct actgctctgg gcgctgctac
      181 tgttgctctt gggatcagct tctcctcagg attctgaaga gcccgacagc tacacggaat
      241 gcacagatgg ctatgagtgg gacccagaca gccagcactg ccgggatgtc aacgagtgtc
      301 tgaccatccc tgaggcctgc aagggggaaa tgaagtgcat caaccactac gggggctact
      361 tgtgcctgcc ccgctccgct gccgtcatca acgacctaca cggcgaggga cccccgccac
      421 cagtgcctcc cgctcaacac cccaacccct gcccaccagg ctatgagccc gacgatcagg
      481 acagctgtgt ggatgtggac gagtgtgccc aggccctgca cgactgtcgc cccagccagg
      541 actgccataa cttgcctggc tcctatcagt gcacctgccc tgatggttac cgcaagatcg
      601 ggcccgagtg tgtggacata gacgagtgcc gctaccgcta ctgccagcac cgctgcgtga
      661 acctgcctgg ctccttccgc tgccagtgcg agccgggctt ccagctgggg cctaacaacc
      721 gctcctgtgt tgatgtgaac gagtgtgaca tgggggcccc atgcgagcag cgctgcttca
      781 actcctatgg gaccttcctg tgtcgctgcc accagggcta tgagctgcat cgggatggct
      841 tctcctgcag tgatattgat gagtgtagct actccagcta cctctgtcag taccgctgca
      901 tcaacgagcc aggccgtttc tcctgccact gcccacaggg ttaccagctg ctggccacac
      961 gcctctgcca agacattgat gagtgtgagt ctggtgcgca ccagtgctcc gaggcccaaa
     1021 cctgtgtcaa cttccatggg ggctaccgct gcgtggacac caaccgctgc gtggagccct
     1081 acatccaggt ctctgagaac cgctgtctct gcccggcctc caaccctcta tgtcgagagc
     1141 agccttcatc cattgtgcac cgctacatga ccatcacctc ggagcggagc gtgcccgctg
     1201 acgtgttcca gatccaggcg acctccgtct accccggtgc ctacaatgcc tttcagatcc
     1261 gtgctggaaa ctcgcagggg gacttttaca ttaggcaaat caacaacgtc agcgccatgc
     1321 tggtcctcgc ccggccggtg acgggccccc gggagtacgt gctggacctg gagatggtca
     1381 ccatgaattc cctcatgagc taccgggcca gctctgtact gaggctcacc gtctttgtag
     1441 gggcctacac cttctgagga gcaggaggga gccaccctcc ctgcagctac cctagctgag
     1501 gagcctgttg tgaggggcag aatgagaaag gcaataaagg gagaaagaaa gtcctggtgg
     1561 ctgaggtggg cgggtcacac tgcaggaagc ctcaggctgg ggcagggtgg cacttggggg
     1621 ggcaggccaa gttcacctaa atgggggtct ctatatgttc aggcccaggg gcccccattg
     1681 acaggagctg ggagctctgc accacgagct tcagtcaccc cgagaggaga ggaggtaacg
     1741 aggagggcgg actccaggcc ccggcccaga gatttggact tggctggctt gcaggggtcc
     1801 taagaaactc cactctggac agcgccagga ggccctgggt tccattccta actctgcctc
     1861 aaactgtaca tttggataag ccctagtagt tccctgggcc tgtttttcta taaaacgagg
     1921 caactggact gtta
//
