LOCUS       NM_001040702             281 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens defensin beta 104B (DEFB104B), mRNA.
ACCESSION   NM_001040702
VERSION     NM_001040702.1
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 281)
  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   2  (bases 1 to 281)
  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   3  (bases 1 to 281)
  AUTHORS   Patil,A.A., Cai,Y., Sang,Y., Blecha,F. and Zhang,G.
  TITLE     Cross-species analysis of the mammalian beta-defensin gene family:
            presence of syntenic gene clusters and preferential expression in
            the male reproductive tract
  JOURNAL   Physiol Genomics 23 (1), 5-17 (2005)
   PUBMED   16033865
REFERENCE   4  (bases 1 to 281)
  AUTHORS   Taudien,S., Galgoczy,P., Huse,K., Reichwald,K., Schilhabel,M.,
            Szafranski,K., Shimizu,A., Asakawa,S., Frankish,A.,
            Loncarevic,I.F., Shimizu,N., Siddiqui,R. and Platzer,M.
  TITLE     Polymorphic segmental duplications at 8p23.1 challenge the
            determination of individual defensin gene repertoires and the
            assembly of a contiguous human reference sequence
  JOURNAL   BMC Genomics 5 (1), 92 (2004)
   PUBMED   15588320
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 281)
  AUTHORS   Boniotto,M., Ventura,M., Eskdale,J., Crovella,S. and Gallagher,G.
  TITLE     Evidence for duplication of the human defensin gene DEFB4 in
            chromosomal region 8p22-23 and implications for the analysis of SNP
            allele distribution
  JOURNAL   Genet Test 8 (3), 325-327 (2004)
   PUBMED   15727258
REFERENCE   6  (bases 1 to 281)
  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 281)
  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 281)
  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 281)
  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 281)
  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 AC130360.4.
            
            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, DEFB104B,
            represents the more telomeric copy. [provided by RefSeq, Oct 2014].
            
            ##Evidence-Data-START##
            Transcript exon combination :: GQ891489.1, ERR279833.8229.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267772 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match                 :: ENST00000316169.2/
                                                  ENSP00000322191.2
            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
            1-72                AC130360.4         163118-163189       c
            73-281              AC130360.4         158415-158623       c
FEATURES             Location/Qualifiers
     source          1..281
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..281
                     /gene="DEFB104B"
                     /gene_synonym="BD-4; DEFB-4; hBD-4"
                     /note="defensin beta 104B"
                     /db_xref="GeneID:503618"
                     /db_xref="HGNC:HGNC:26165"
     exon            1..72
                     /gene="DEFB104B"
                     /gene_synonym="BD-4; DEFB-4; hBD-4"
                     /inference="alignment:Splign:2.1.0"
     CDS             15..233
                     /gene="DEFB104B"
                     /gene_synonym="BD-4; DEFB-4; hBD-4"
                     /note="beta-defensin 104; beta-defensin 4; defensin, beta
                     104"
                     /codon_start=1
                     /product="beta-defensin 104 precursor"
                     /protein_id="NP_001035792.1"
                     /db_xref="CCDS:CCDS34812.1"
                     /db_xref="GeneID:503618"
                     /db_xref="HGNC:HGNC:26165"
                     /translation="MQRLVLLLAISLLLYQDLPVRSEFELDRICGYGTARCRKKCRSQ
                     EYRIGRCPNTYACCLRKWDESLLNRTKP"
     exon            73..281
                     /gene="DEFB104B"
                     /gene_synonym="BD-4; DEFB-4; hBD-4"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gcagccccag cattatgcag agacttgtgc tgctattagc catttctctt ctactctatc
       61 aagatcttcc agtgagaagc gaatttgaat tggacagaat atgtggttat gggactgccc
      121 gttgccggaa gaaatgtcgc agccaagaat acagaattgg aagatgtccc aacacctatg
      181 catgctgttt gagaaaatgg gatgagagct tactgaatcg tacaaaaccc tgaaacgcag
      241 tagtgctggt ccctagagtc gctggaagta ggacctcagt a
//
