LOCUS       NM_030652               1298 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens EGF like domain multiple 8 (EGFL8), transcript variant
            1, mRNA.
ACCESSION   NM_030652
VERSION     NM_030652.4
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 1298)
  AUTHORS   Malik,R., Beaufort,N., Frerich,S., Gesierich,B., Georgakis,M.K.,
            Rannikmae,K., Ferguson,A.C., Haffner,C., Traylor,M., Ehrmann,M.,
            Sudlow,C.L.M. and Dichgans,M.
  TITLE     Whole-exome sequencing reveals a role of HTRA1 and EGFL8 in brain
            white matter hyperintensities
  JOURNAL   Brain 144 (9), 2670-2682 (2021)
   PUBMED   34626176
  REMARK    GeneRIF: Whole-exome sequencing reveals a role of HTRA1 and EGFL8
            in brain white matter hyperintensities.
REFERENCE   2  (bases 1 to 1298)
  AUTHORS   Wu,F., Zhang,F.Y., Tan,G.Q., Chen,W.J., Huang,B., Yan,L.,
            Zhang,H.L., Chen,S., Jiao,Y. and Wang,B.L.
  TITLE     Down-regulation of EGFL8 regulates migration, invasion and
            apoptosis of hepatocellular carcinoma through activating Notch
            signaling pathway
  JOURNAL   BMC Cancer 21 (1), 704 (2021)
   PUBMED   34130659
  REMARK    GeneRIF: Down-regulation of EGFL8 regulates migration, invasion and
            apoptosis of hepatocellular carcinoma through activating Notch
            signaling pathway.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1298)
  AUTHORS   Weiss,T., Taschner-Mandl,S., Janker,L., Bileck,A., Rifatbegovic,F.,
            Kromp,F., Sorger,H., Kauer,M.O., Frech,C., Windhager,R., Gerner,C.,
            Ambros,P.F. and Ambros,I.M.
  TITLE     Schwann cell plasticity regulates neuroblastic tumor cell
            differentiation via epidermal growth factor-like protein 8
  JOURNAL   Nat Commun 12 (1), 1624 (2021)
   PUBMED   33712610
  REMARK    GeneRIF: Schwann cell plasticity regulates neuroblastic tumor cell
            differentiation via epidermal growth factor-like protein 8.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1298)
  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   5  (bases 1 to 1298)
  AUTHORS   Wu,J.H., Lemaitre,R.N., Manichaikul,A., Guan,W., Tanaka,T., Foy,M.,
            Kabagambe,E.K., Djousse,L., Siscovick,D., Fretts,A.M., Johnson,C.,
            King,I.B., Psaty,B.M., McKnight,B., Rich,S.S., Chen,Y.D.,
            Nettleton,J.A., Tang,W., Bandinelli,S., Jacobs,D.R. Jr.,
            Browning,B.L., Laurie,C.C., Gu,X., Tsai,M.Y., Steffen,L.M.,
            Ferrucci,L., Fornage,M. and Mozaffarian,D.
  TITLE     Genome-wide association study identifies novel loci associated with
            concentrations of four plasma phospholipid fatty acids in the de
            novo lipogenesis pathway: results from the Cohorts for Heart and
            Aging Research in Genomic Epidemiology (CHARGE) consortium
  JOURNAL   Circ Cardiovasc Genet 6 (2), 171-183 (2013)
   PUBMED   23362303
REFERENCE   6  (bases 1 to 1298)
  AUTHORS   Stanescu,H.C., Arcos-Burgos,M., Medlar,A., Bockenhauer,D.,
            Kottgen,A., Dragomirescu,L., Voinescu,C., Patel,N., Pearce,K.,
            Hubank,M., Stephens,H.A., Laundy,V., Padmanabhan,S., Zawadzka,A.,
            Hofstra,J.M., Coenen,M.J., den Heijer,M., Kiemeney,L.A.,
            Bacq-Daian,D., Stengel,B., Powis,S.H., Brenchley,P., Feehally,J.,
            Rees,A.J., Debiec,H., Wetzels,J.F., Ronco,P., Mathieson,P.W. and
            Kleta,R.
  TITLE     Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous
            nephropathy
  JOURNAL   N Engl J Med 364 (7), 616-626 (2011)
   PUBMED   21323541
REFERENCE   7  (bases 1 to 1298)
  AUTHORS   Ucisik-Akkaya,E., Davis,C.F., Do,T.N., Morrison,B.A., Stemmer,S.M.,
            Amadio,W.J. and Dorak,M.T.
  TITLE     Examination of genetic polymorphisms in newborns for signatures of
            sex-specific prenatal selection
  JOURNAL   Mol Hum Reprod 16 (10), 770-777 (2010)
   PUBMED   20587610
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1298)
  AUTHORS   Barcellos,L.F., May,S.L., Ramsay,P.P., Quach,H.L., Lane,J.A.,
            Nititham,J., Noble,J.A., Taylor,K.E., Quach,D.L., Chung,S.A.,
            Kelly,J.A., Moser,K.L., Behrens,T.W., Seldin,M.F., Thomson,G.,
            Harley,J.B., Gaffney,P.M. and Criswell,L.A.
  TITLE     High-density SNP screening of the major histocompatibility complex
            in systemic lupus erythematosus demonstrates strong evidence for
            independent susceptibility regions
  JOURNAL   PLoS Genet 5 (10), e1000696 (2009)
   PUBMED   19851445
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 1298)
  AUTHORS   Valdes,A.M. and Thomson,G.
  CONSRTM   Type 1 Diabetes Genetics Consortium
  TITLE     Several loci in the HLA class III region are associated with T1D
            risk after adjusting for DRB1-DQB1
  JOURNAL   Diabetes Obes Metab 11 Suppl 1 (Suppl 1), 46-52 (2009)
   PUBMED   19143814
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (bases 1 to 1298)
  AUTHORS   Xie,T., Rowen,L., Aguado,B., Ahearn,M.E., Madan,A., Qin,S.,
            Campbell,R.D. and Hood,L.
  TITLE     Analysis of the gene-dense major histocompatibility complex class
            III region and its comparison to mouse
  JOURNAL   Genome Res 13 (12), 2621-2636 (2003)
   PUBMED   14656967
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL662884.11, BC052591.1, BC035574.1 and AB190520.1.
            
            On Nov 23, 2018 this sequence version replaced NM_030652.3.
            
            Transcript Variant: This variant (1) represents the shorter
            transcript but encodes the supported 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 :: BC035574.1, SRR7410570.262106.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000333845.11/ ENSP00000333380.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                AL662884.11        77422-77431
            11-33               BC052591.1         1-23
            34-907              BC035574.1         1-874
            908-1145            AB190520.1         836-1073
            1146-1298           BC052591.1         1160-1312
FEATURES             Location/Qualifiers
     source          1..1298
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.32"
     gene            1..1298
                     /gene="EGFL8"
                     /gene_synonym="C6orf8; NG3"
                     /note="EGF like domain multiple 8"
                     /db_xref="GeneID:80864"
                     /db_xref="HGNC:HGNC:13944"
                     /db_xref="MIM:609897"
     exon            1..63
                     /gene="EGFL8"
                     /gene_synonym="C6orf8; NG3"
                     /inference="alignment:Splign:2.1.0"
     exon            64..192
                     /gene="EGFL8"
                     /gene_synonym="C6orf8; NG3"
                     /inference="alignment:Splign:2.1.0"
     CDS             92..973
                     /gene="EGFL8"
                     /gene_synonym="C6orf8; NG3"
                     /note="epidermal growth factor-like protein 8;
                     VE-statin-2; EGF-like protein 8; vascular endothelial
                     statin-2"
                     /codon_start=1
                     /product="epidermal growth factor-like protein 8
                     precursor"
                     /protein_id="NP_085155.1"
                     /db_xref="CCDS:CCDS4743.1"
                     /db_xref="GeneID:80864"
                     /db_xref="HGNC:HGNC:13944"
                     /db_xref="MIM:609897"
                     /translation="MGSRAELCTLLGGFSFLLLLIPGEGAKGGSLRESQGVCSKQTLV
                     VPLHYNESYSQPVYKPYLTLCAGRRICSTYRTMYRVMWREVRREVQQTHAVCCQGWKK
                     RHPGALTCEAICAKPCLNGGVCVRPDQCECAPGWGGKHCHVDVDECRTSITLCSHHCF
                     NTAGSFTCGCPHDLVLGVDGRTCMEGSPEPPTSASILSVAVREAEKDERALKQEIHEL
                     RGRLERLEQWAGQAGAWVRAVLPVPPEELQPEQVAELWGRGDRIESLSDQVLLLEERL
                     GACSCEDNSLGLGVNHR"
     exon            193..315
                     /gene="EGFL8"
                     /gene_synonym="C6orf8; NG3"
                     /inference="alignment:Splign:2.1.0"
     exon            316..425
                     /gene="EGFL8"
                     /gene_synonym="C6orf8; NG3"
                     /inference="alignment:Splign:2.1.0"
     exon            426..521
                     /gene="EGFL8"
                     /gene_synonym="C6orf8; NG3"
                     /inference="alignment:Splign:2.1.0"
     exon            522..692
                     /gene="EGFL8"
                     /gene_synonym="C6orf8; NG3"
                     /inference="alignment:Splign:2.1.0"
     exon            693..772
                     /gene="EGFL8"
                     /gene_synonym="C6orf8; NG3"
                     /inference="alignment:Splign:2.1.0"
     exon            773..926
                     /gene="EGFL8"
                     /gene_synonym="C6orf8; NG3"
                     /inference="alignment:Splign:2.1.0"
     exon            927..1298
                     /gene="EGFL8"
                     /gene_synonym="C6orf8; NG3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1277..1282
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EGFL8"
                     /gene_synonym="C6orf8; NG3"
                     /note="hexamer: AATAAA"
     polyA_site      1298
                     /gene="EGFL8"
                     /gene_synonym="C6orf8; NG3"
                     /note="major polyA site"
ORIGIN      
        1 accagtctga gctgcttctg ctgaggctgg tctgcttgaa gcctcccagg agaaagaagc
       61 cagcctgtag ggtccagcgt caaagcgaat catggggtcc agggctgagc tgtgcactct
      121 cttaggcgga ttctccttcc tcctgctact gataccaggc gagggggcca agggtggatc
      181 cctcagagag agtcagggag tctgctccaa gcagacactg gtggtcccgc tccactacaa
      241 cgagtcctac agccaaccag tgtacaagcc ctacctgacc ttgtgcgctg ggaggcgcat
      301 ctgcagcact tacaggacca tgtaccgcgt tatgtggcgg gaggtgaggc gggaggttca
      361 gcagacccat gcagtgtgct gccagggctg gaagaagcgg cacccggggg cgctcacctg
      421 tgaagccatc tgcgccaagc cttgcctgaa cggaggcgtc tgcgttaggc ctgaccagtg
      481 cgagtgcgcc cccggctggg gagggaagca ctgtcatgtg gacgtggatg aatgtaggac
      541 cagcatcacc ctctgctcgc accattgttt taatacggca ggcagcttca cctgcggctg
      601 cccccatgac ctagtgctag gcgtggacgg gcgcacctgc atggaggggt ccccagagcc
      661 cccaaccagt gccagcatac tcagcgtggc cgttcgggag gcggaaaaag atgagcgcgc
      721 tctgaagcag gagattcacg agctgcgagg gcgcctggag cggctggagc agtgggccgg
      781 tcaggctggg gcctgggtca gagcggtgct gcccgtgccg cctgaagagc tgcagccaga
      841 acaggtggct gagctgtggg gccggggtga ccggatcgaa tctctcagcg accaggtgct
      901 gctgctggag gagaggctag gtgcctgctc ctgtgaggac aacagcctgg gcctcggcgt
      961 caatcatcga taagaagcct ctacagcacc cctgccccct aatttataca gaaaccggac
     1021 ccactaatcc tctgggattg gccgactgtg agctgcagat aaggctatca gccaccaaag
     1081 agcaatgaac aatggaaact tcagagagct gaagaaaggg ggaggcctgt gttcttggcc
     1141 tgcccctgag tcttctggct gggggcaggt tgcctgggca agaactgctt cttcaattcc
     1201 ttaacaaatg caaccaccaa cacccagatc tctctctctc tttattttca gtttttttgc
     1261 tgttatccag ataattaata aaaaccaacc acgcaaaa
//
