LOCUS       NM_080389                316 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens defensin beta 104A (DEFB104A), mRNA.
ACCESSION   NM_080389 XM_928786
VERSION     NM_080389.3
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 316)
  AUTHORS   Li,X., Duan,D., Yang,J., Wang,P., Han,B., Zhao,L., Jepsen,S.,
            Dommisch,H., Winter,J. and Xu,Y.
  TITLE     The expression of human beta-defensins (hBD-1, hBD-2, hBD-3, hBD-4)
            in gingival epithelia
  JOURNAL   Arch Oral Biol 66, 15-21 (2016)
   PUBMED   26874342
  REMARK    GeneRIF: Expression of hBD-1, hBD-2, hBD-3, and hBD-4 in healthy
            and chronic periodontitis gingiva.
REFERENCE   2  (bases 1 to 316)
  AUTHORS   Semlali,A., Al Amri,A., Azzi,A., Al Shahrani,O., Arafah,M.,
            Kohailan,M., Aljebreen,A.M., Alharbi,O., Almadi,M.A., Azzam,N.A.,
            Parine,N.R., Rouabhia,M. and Alanazi,M.S.
  TITLE     Expression and new exon mutations of the human Beta defensins and
            their association on colon cancer development
  JOURNAL   PLoS One 10 (6), e0126868 (2015)
   PUBMED   26038828
  REMARK    GeneRIF: there is a significant link between innate immunity
            deregulation through disruption of cationic peptides (hBDs) and the
            potential development of colon cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 316)
  AUTHORS   Barrera,G.J., Sanchez,G. and Gonzalez,J.E.
  TITLE     Trefoil factor 3 isolated from human breast milk downregulates
            cytokines (IL8 and IL6) and promotes human beta defensin (hBD2 and
            hBD4) expression in intestinal epithelial cells HT-29
  JOURNAL   Bosn J Basic Med Sci 12 (4), 256-264 (2012)
   PUBMED   23198942
  REMARK    GeneRIF: TFF3 activated the epithelial cells in culture to produce
            beta defensins 2 (hBD2) and beta defensins 4
REFERENCE   4  (bases 1 to 316)
  AUTHORS   Musumeci,G., Carnazza,M.L., Leonardi,R. and Loreto,C.
  TITLE     Expression of beta-defensin-4 in 'an in vivo and ex vivo model' of
            human osteoarthritic knee meniscus
  JOURNAL   Knee Surg Sports Traumatol Arthrosc 20 (2), 216-222 (2012)
   PUBMED   21879330
  REMARK    GeneRIF: Data suggest an activation of b-defensin-4 induction, in
            human knee meniscus by the osteoarthritis inflammatory process as a
            result of an endogenous antibiotic defense mechanism accompanied by
            an intrinsic effort of tissue remodeling.
REFERENCE   5  (bases 1 to 316)
  AUTHORS   Park,J.J., Oh,B.R., Kim,J.Y., Park,J.A., Kim,C., Lee,Y.J.,
            Song,Y.W., Armour,J.A. and Lee,E.B.
  TITLE     Copy number variation of beta-defensin genes in Behcet's disease
  JOURNAL   Clin Exp Rheumatol 29 (4 Suppl 67), S20-S23 (2011)
   PUBMED   21385545
  REMARK    GeneRIF: Our results suggest that copy number variation of DEFB4
            may not contribute to the pathogenesis of Behcet's disease.
REFERENCE   6  (bases 1 to 316)
  AUTHORS   Hollox,E.J., Armour,J.A. and Barber,J.C.
  TITLE     Extensive normal copy number variation of a beta-defensin
            antimicrobial-gene cluster
  JOURNAL   Am J Hum Genet 73 (3), 591-600 (2003)
   PUBMED   12916016
REFERENCE   7  (bases 1 to 316)
  AUTHORS   Semple,C.A., Rolfe,M. and Dorin,J.R.
  TITLE     Duplication and selection in the evolution of primate beta-defensin
            genes
  JOURNAL   Genome Biol 4 (5), R31 (2003)
   PUBMED   12734011
REFERENCE   8  (bases 1 to 316)
  AUTHORS   Yamaguchi,Y., Nagase,T., Makita,R., Fukuhara,S., Tomita,T.,
            Tominaga,T., Kurihara,H. and Ouchi,Y.
  TITLE     Identification of multiple novel epididymis-specific beta-defensin
            isoforms in humans and mice
  JOURNAL   J Immunol 169 (5), 2516-2523 (2002)
   PUBMED   12193721
REFERENCE   9  (bases 1 to 316)
  AUTHORS   Schutte,B.C., Mitros,J.P., Bartlett,J.A., Walters,J.D., Jia,H.P.,
            Welsh,M.J., Casavant,T.L. and McCray,P.B. Jr.
  TITLE     Discovery of five conserved beta -defensin gene clusters using a
            computational search strategy
  JOURNAL   Proc Natl Acad Sci U S A 99 (4), 2129-2133 (2002)
   PUBMED   11854508
  REMARK    Erratum:[Proc Natl Acad Sci U S A 2002 Oct 29;99(22):14611]
REFERENCE   10 (bases 1 to 316)
  AUTHORS   Garcia,J.R., Krause,A., Schulz,S., Rodriguez-Jimenez,F.J.,
            Kluver,E., Adermann,K., Forssmann,U., Frimpong-Boateng,A., Bals,R.
            and Forssmann,W.G.
  TITLE     Human beta-defensin 4: a novel inducible peptide with a specific
            salt-sensitive spectrum of antimicrobial activity
  JOURNAL   FASEB J 15 (10), 1819-1821 (2001)
   PUBMED   11481241
  REMARK    GeneRIF: Beta-defensin 104 displays antimicrobial activity against
            S. carnosus, E. coli, S. cerevisiae, and P. aeruginosa (strong).
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC084121.13 and BC100851.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_080389.2.
            
            Summary: Defensins form a family of antimicrobial and cytotoxic
            peptides made by neutrophils. Defensins are short, processed
            peptide molecules that are classified by structure into three
            groups: alpha-defensins, beta-defensins and theta-defensins. All
            beta-defensin genes are densely clustered in four to five syntenic
            chromosomal regions. Chromosome 8p23 contains at least two copies
            of the duplicated beta-defensin cluster. This duplication results
            in two identical copies of defensin, beta 104, DEFB104A and
            DEFB104B, in head-to-head orientation. This gene, DEFB104A,
            represents the more centromeric copy. [provided by RefSeq, Oct
            2014].
            
            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##
            RNAseq introns :: single sample supports all introns SAMN03267772
                              [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match                 :: ENST00000314265.3/
                                                  ENSP00000320813.2
            Protein has antimicrobial activity :: PMID: 11481241
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-35                AC084121.13        1676-1710           c
            36-316              BC100851.1         1-281
FEATURES             Location/Qualifiers
     source          1..316
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..316
                     /gene="DEFB104A"
                     /gene_synonym="BD-4; DEFB-4; DEFB104; DEFB4; hBD-4"
                     /note="defensin beta 104A"
                     /db_xref="GeneID:140596"
                     /db_xref="HGNC:HGNC:18115"
     exon            1..107
                     /gene="DEFB104A"
                     /gene_synonym="BD-4; DEFB-4; DEFB104; DEFB4; hBD-4"
                     /inference="alignment:Splign:2.1.0"
     CDS             50..268
                     /gene="DEFB104A"
                     /gene_synonym="BD-4; DEFB-4; DEFB104; DEFB4; hBD-4"
                     /note="defensin, beta 4; beta-defensin 104"
                     /codon_start=1
                     /product="beta-defensin 104 precursor"
                     /protein_id="NP_525128.2"
                     /db_xref="CCDS:CCDS34834.1"
                     /db_xref="GeneID:140596"
                     /db_xref="HGNC:HGNC:18115"
                     /translation="MQRLVLLLAISLLLYQDLPVRSEFELDRICGYGTARCRKKCRSQ
                     EYRIGRCPNTYACCLRKWDESLLNRTKP"
     exon            108..316
                     /gene="DEFB104A"
                     /gene_synonym="BD-4; DEFB-4; DEFB104; DEFB4; hBD-4"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 ggtgattccc tccgacttgc gtctgcttct cgccagcagc cccagcatta tgcagagact
       61 tgtgctgcta ttagccattt ctcttctact ctatcaagat cttccagtga gaagcgaatt
      121 tgaattggac agaatatgtg gttatgggac tgcccgttgc cggaagaaat gtcgcagcca
      181 agaatacaga attggaagat gtcccaacac ctatgcatgc tgtttgagaa aatgggatga
      241 gagcttactg aatcgtacaa aaccctgaaa cgcagtagtg ctggtcccta gagtcgctgg
      301 aagtaggacc tcagta
//
