LOCUS       NM_006103                567 bp    mRNA    linear   PRI 20-OCT-2024
DEFINITION  Homo sapiens WAP four-disulfide core domain 2 (WFDC2), mRNA.
ACCESSION   NM_006103
VERSION     NM_006103.4
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 567)
  AUTHORS   Li,Y., Yu,C., Li,H., Feng,Y., Fan,P. and Chen,X.
  TITLE     Relationship between human epididymal protein 4 and depth of tumor
            invasion, postoperative recurrence, and metastasis of epithelial
            epithelial ovarian cancer
  JOURNAL   Asia Pac J Clin Oncol 20 (4), 472-480 (2024)
   PUBMED   38615275
  REMARK    GeneRIF: Relationship between human epididymal protein 4 and depth
            of tumor invasion, postoperative recurrence, and metastasis of
            epithelial epithelial ovarian cancer.
REFERENCE   2  (bases 1 to 567)
  AUTHORS   Dougherty,G.W., Ostrowski,L.E., Nothe-Menchen,T., Raidt,J.,
            Schramm,A., Olbrich,H., Yin,W., Sears,P.R., Dang,H., Smith,A.J.,
            Beule,A.G., Hjeij,R., Rutjes,N., Haarman,E.G., Maas,S.M.,
            Ferkol,T.W., Noone,P.G., Olivier,K.N., Bracht,D.C., Barbry,P.,
            Zaragosi,L.E., Fierville,M., Kliesch,S., Wohlgemuth,K., Konig,J.,
            George,S., Loges,N.T., Ceppe,A., Markovetz,M.R., Luo,H., Guo,T.,
            Rizk,H., Eldesoky,T., Dahlke,K., Boldt,K., Ueffing,M., Hill,D.B.,
            Pang,Y.P., Knowles,M.R., Zariwala,M.A. and Omran,H.
  TITLE     Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes
            Nasal Polyposis and Bronchiectasis
  JOURNAL   Am J Respir Crit Care Med 210 (1), 63-76 (2024)
   PUBMED   38626355
  REMARK    GeneRIF: Recessively Inherited Deficiency of Secreted WFDC2 (HE4)
            Causes Nasal Polyposis and Bronchiectasis.
REFERENCE   3  (bases 1 to 567)
  AUTHORS   Penick,E.R., Beltran,T.A., Choi,Y.S. and Wilson,K.L.
  TITLE     Human epididymis protein 4: Analysis of national health and
            nutrition examination survey data
  JOURNAL   Eur J Obstet Gynecol Reprod Biol 297, 86-90 (2024)
   PUBMED   38598900
  REMARK    GeneRIF: Human epididymis protein 4: Analysis of national health
            and nutrition examination survey data.
REFERENCE   4  (bases 1 to 567)
  AUTHORS   Zhang,Y., Yang,W., Han,X., Qiao,Y., Wang,H., Chen,T., Li,T. and
            Ou,W.B.
  TITLE     Knockdown of HE4 suppresses tumor growth and invasiveness in lung
            adenocarcinoma through regulation of EGFR signaling
  JOURNAL   Oncol Res 32 (6), 1119-1128 (2024)
   PUBMED   38827327
  REMARK    GeneRIF: Knockdown of HE4 suppresses tumor growth and invasiveness
            in lung adenocarcinoma through regulation of EGFR signaling.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 567)
  AUTHORS   Promchit,K. and Oranratanaphan,S.
  TITLE     Human Epididymis Protein 4 (HE4) and Cancer Antigen 125 (CA125) for
            Prediction of Optimal Primary Surgery in Non-Mucinous Epithelial
            Ovarian Cancer
  JOURNAL   Asian Pac J Cancer Prev 25 (1), 281-286 (2024)
   PUBMED   38285795
  REMARK    GeneRIF: Human Epididymis Protein 4 (HE4) and Cancer Antigen 125
            (CA125) for Prediction of Optimal Primary Surgery in Non-Mucinous
            Epithelial Ovarian Cancer.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 567)
  AUTHORS   Deloukas,P., Matthews,L.H., Ashurst,J., Burton,J., Gilbert,J.G.,
            Jones,M., Stavrides,G., Almeida,J.P., Babbage,A.K., Bagguley,C.L.,
            Bailey,J., Barlow,K.F., Bates,K.N., Beard,L.M., Beare,D.M.,
            Beasley,O.P., Bird,C.P., Blakey,S.E., Bridgeman,A.M., Brown,A.J.,
            Buck,D., Burrill,W., Butler,A.P., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M., Clark,G., Clark,L.N., Clark,S.Y.,
            Clee,C.M., Clegg,S., Cobley,V.E., Collier,R.E., Connor,R.,
            Corby,N.R., Coulson,A., Coville,G.J., Deadman,R., Dhami,P.,
            Dunn,M., Ellington,A.G., Frankland,J.A., Fraser,A., French,L.,
            Garner,P., Grafham,D.V., Griffiths,C., Griffiths,M.N., Gwilliam,R.,
            Hall,R.E., Hammond,S., Harley,J.L., Heath,P.D., Ho,S., Holden,J.L.,
            Howden,P.J., Huckle,E., Hunt,A.R., Hunt,S.E., Jekosch,K.,
            Johnson,C.M., Johnson,D., Kay,M.P., Kimberley,A.M., King,A.,
            Knights,A., Laird,G.K., Lawlor,S., Lehvaslaiho,M.H., Leversha,M.,
            Lloyd,C., Lloyd,D.M., Lovell,J.D., Marsh,V.L., Martin,S.L.,
            McConnachie,L.J., McLay,K., McMurray,A.A., Milne,S., Mistry,D.,
            Moore,M.J., Mullikin,J.C., Nickerson,T., Oliver,K., Parker,A.,
            Patel,R., Pearce,T.A., Peck,A.I., Phillimore,B.J.,
            Prathalingam,S.R., Plumb,R.W., Ramsay,H., Rice,C.M., Ross,M.T.,
            Scott,C.E., Sehra,H.K., Shownkeen,R., Sims,S., Skuce,C.D.,
            Smith,M.L., Soderlund,C., Steward,C.A., Sulston,J.E., Swann,M.,
            Sycamore,N., Taylor,R., Tee,L., Thomas,D.W., Thorpe,A., Tracey,A.,
            Tromans,A.C., Vaudin,M., Wall,M., Wallis,J.M., Whitehead,S.L.,
            Whittaker,P., Willey,D.L., Williams,L., Williams,S.A., Wilming,L.,
            Wray,P.W., Hubbard,T., Durbin,R.M., Bentley,D.R., Beck,S. and
            Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
REFERENCE   7  (bases 1 to 567)
  AUTHORS   Schummer,M., Ng,W.V., Bumgarner,R.E., Nelson,P.S., Schummer,B.,
            Bednarski,D.W., Hassell,L., Baldwin,R.L., Karlan,B.Y. and Hood,L.
  TITLE     Comparative hybridization of an array of 21,500 ovarian cDNAs for
            the discovery of genes overexpressed in ovarian carcinomas
  JOURNAL   Gene 238 (2), 375-385 (1999)
   PUBMED   10570965
REFERENCE   8  (bases 1 to 567)
  AUTHORS   Kirchhoff,C.
  TITLE     Molecular characterization of epididymal proteins
  JOURNAL   Rev Reprod 3 (2), 86-95 (1998)
   PUBMED   9685187
  REMARK    Review article
REFERENCE   9  (bases 1 to 567)
  AUTHORS   Kirchhoff,C., Habben,I., Ivell,R. and Krull,N.
  TITLE     A major human epididymis-specific cDNA encodes a protein with
            sequence homology to extracellular proteinase inhibitors
  JOURNAL   Biol Reprod 45 (2), 350-357 (1991)
   PUBMED   1686187
REFERENCE   10 (bases 1 to 567)
  AUTHORS   Kirchhoff,C., Osterhoff,C., Habben,I. and Ivell,R.
  TITLE     Cloning and analysis of mRNAs expressed specifically in the human
            epididymis
  JOURNAL   Int J Androl 13 (2), 155-167 (1990)
   PUBMED   1693137
  REMARK    Erratum:[Int J Androl 1990 Aug;13(4):327. Kirchloff C [corrected to
            Kirchhoff C]]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL031663.2, BI759775.1 and
            X63187.1.
            
            On Nov 23, 2018 this sequence version replaced NM_006103.3.
            
            Summary: This gene encodes a protein that is a member of the WFDC
            domain family. The WFDC domain, or WAP Signature motif, contains
            eight cysteines forming four disulfide bonds at the core of the
            protein, and functions as a protease inhibitor in many family
            members. This gene is expressed in pulmonary epithelial cells, and
            was also found to be expressed in some ovarian cancers. The encoded
            protein is a small secretory protein, which may be involved in
            sperm maturation. [provided by RefSeq, Jul 2008].
            
            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 :: DA441495.1, ERR279846.3957.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372676.8/ ENSP00000361761.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 AL031663.2         33505-33505
            2-252               BI759775.1         29-279
            253-330             X63187.1           254-331
            331-567             BI759775.1         358-594
FEATURES             Location/Qualifiers
     source          1..567
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     gene            1..567
                     /gene="WFDC2"
                     /gene_synonym="BENP; dJ461P17.6; EDDM4; HE4; WAP5"
                     /note="WAP four-disulfide core domain 2"
                     /db_xref="GeneID:10406"
                     /db_xref="HGNC:HGNC:15939"
                     /db_xref="MIM:617548"
     exon            1..108
                     /gene="WFDC2"
                     /gene_synonym="BENP; dJ461P17.6; EDDM4; HE4; WAP5"
                     /inference="alignment:Splign:2.1.0"
     CDS             30..404
                     /gene="WFDC2"
                     /gene_synonym="BENP; dJ461P17.6; EDDM4; HE4; WAP5"
                     /note="epididymal protein 4; human epididymis protein 4;
                     epididymis-specific, whey-acidic protein type,
                     four-disulfide core; WAP domain containing protein HE4-V4;
                     major epididymis-specific protein E4; epididymal secretory
                     protein E4; WAP four-disulfide core domain protein 2;
                     putative protease inhibitor WAP5; epididymis secretory
                     sperm binding protein"
                     /codon_start=1
                     /product="WAP four-disulfide core domain protein 2
                     precursor"
                     /protein_id="NP_006094.3"
                     /db_xref="CCDS:CCDS35501.1"
                     /db_xref="GeneID:10406"
                     /db_xref="HGNC:HGNC:15939"
                     /db_xref="MIM:617548"
                     /translation="MPACRLGPLAAALLLSLLLFGFTLVSGTGAEKTGVCPELQADQN
                     CTQECVSDSECADNLKCCSAGCATFCSLPNDKEGSCPQVNINFPQLGLCRDQCQVDSQ
                     CPGQMKCCRNGCGKVSCVTPNF"
     exon            109..252
                     /gene="WFDC2"
                     /gene_synonym="BENP; dJ461P17.6; EDDM4; HE4; WAP5"
                     /inference="alignment:Splign:2.1.0"
     exon            253..405
                     /gene="WFDC2"
                     /gene_synonym="BENP; dJ461P17.6; EDDM4; HE4; WAP5"
                     /inference="alignment:Splign:2.1.0"
     exon            406..567
                     /gene="WFDC2"
                     /gene_synonym="BENP; dJ461P17.6; EDDM4; HE4; WAP5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      546..551
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WFDC2"
                     /gene_synonym="BENP; dJ461P17.6; EDDM4; HE4; WAP5"
                     /note="hexamer: AATAAA"
     polyA_site      567
                     /gene="WFDC2"
                     /gene_synonym="BENP; dJ461P17.6; EDDM4; HE4; WAP5"
                     /note="major polyA site"
ORIGIN      
        1 acacctgcac cccgcccggg catagcacca tgcctgcttg tcgcctaggc ccgctagccg
       61 ccgccctcct cctcagcctg ctgctgttcg gcttcaccct agtctcaggc acaggagcag
      121 agaagactgg cgtgtgcccc gagctccagg ctgaccagaa ctgcacgcaa gagtgcgtct
      181 cggacagcga atgcgccgac aacctcaagt gctgcagcgc gggctgtgcc accttctgct
      241 ctctgcccaa tgataaggag ggttcctgcc cccaggtgaa cattaacttt ccccagctcg
      301 gcctctgtcg ggaccagtgc caggtggaca gccagtgtcc tggccagatg aaatgctgcc
      361 gcaatggctg tgggaaggtg tcctgtgtca ctcccaattt ctgagctcca gccaccacca
      421 ggctgagcag tgaggagaga aagtttctgc ctggccctgc atctggttcc agcccacctg
      481 ccctcccctt tttcgggact ctgtattccc tcttgggctg accacagctt ctccctttcc
      541 caaccaataa agtaaccact ttcagca
//
