GGRNA | NM_006361.5

LOCUS       NM_006361               3047 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens homeobox B13 (HOXB13), mRNA.
ACCESSION   NM_006361
VERSION     NM_006361.5  GI:84043952
KEYWORDS    RefSeq.
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 3047)
  AUTHORS   Stott-Miller,M., Karyadi,D.M., Smith,T., Kwon,E.M., Kolb,S.,
            Stanford,J.L. and Ostrander,E.A.
  TITLE     HOXB13 mutations in a population-based, case-control study of
            prostate cancer
  JOURNAL   Prostate 73 (6), 634-641 (2013)
   PUBMED   23129385
  REMARK    GeneRIF: These results confirm the association of a rare HOXB13
            mutation with prostate cancer in the general population and suggest
            that this variant may be associated with features of more
            aggressive disease.
REFERENCE   2  (bases 1 to 3047)
  AUTHORS   Kluzniak W, Wokolorczyk D, Kashyap A, Jakubowska A, Gronwald J,
            Huzarski T, Byrski T, Debniak T, Golab A, Gliniewicz B, Sikorski A,
            Switala J, Borkowski T, Borkowski A, Antczak A, Wojnar L, Przybyla
            J, Sosnowski M, Malkiewicz B, Zdrojowy R, Sikorska-Radek P, Matych
            J, Wilkosz J, Rozanski W, Kis J, Bar K, Bryniarski P, Paradysz A,
            Jersak K, Niemirowicz J, Slupski P, Jarzemski P, Skrzypczyk M,
            Dobruch J, Domagala P, Akbari MR, Lubinski J, Narod SA and Cybulski
            C.
  CONSRTM   Polish Hereditary Prostate Cancer Consortium
  TITLE     The G84E mutation in the HOXB13 gene is associated with an
            increased risk of prostate cancer in Poland
  JOURNAL   Prostate 73 (5), 542-548 (2013)
   PUBMED   23334858
  REMARK    GeneRIF: The G84E mutation predisposes to prostate cancer in
            Poland, but accounts for only a small proportion of cases; the G84E
            founder mutation might be present in other Slavic populations.
REFERENCE   3  (bases 1 to 3047)
  AUTHORS   Schroeck,F.R., Zuhlke,K.A., Siddiqui,J., Siddiqui,R., Cooney,K.A.
            and Wei,J.T.
  TITLE     Testing for the recurrent HOXB13 G84E germline mutation in men with
            clinical indications for prostate biopsy
  JOURNAL   J. Urol. 189 (3), 849-853 (2013)
   PUBMED   23036981
  REMARK    GeneRIF: The HOXB13 G84E variant is rare in this cohort, even among
            those with a positive family history. Our findings question the
            utility of testing for this variant among unselected men presenting
            for a diagnostic prostate biopsy.
REFERENCE   4  (bases 1 to 3047)
  AUTHORS   Xu J, Lange EM, Lu L, Zheng SL, Wang Z, Thibodeau SN,
            Cannon-Albright LA, Teerlink CC, Camp NJ, Johnson AM, Zuhlke KA,
            Stanford JL, Ostrander EA, Wiley KE, Isaacs SD, Walsh PC, Maier C,
            Luedeke M, Vogel W, Schleutker J, Wahlfors T, Tammela T, Schaid D,
            McDonnell SK, DeRycke MS, Cancel-Tassin G, Cussenot O, Wiklund F,
            Gronberg H, Eeles R, Easton D, Kote-Jarai Z, Whittemore AS, Hsieh
            CL, Giles GG, Hopper JL, Severi G, Catalona WJ, Mandal D, Ledet E,
            Foulkes WD, Hamel N, Mahle L, Moller P, Powell I, Bailey-Wilson JE,
            Carpten JD, Seminara D, Cooney KA and Isaacs WB.
  CONSRTM   International Consortium for Prostate Cancer Genetics
  TITLE     HOXB13 is a susceptibility gene for prostate cancer: results from
            the International Consortium for Prostate Cancer Genetics (ICPCG)
  JOURNAL   Hum. Genet. 132 (1), 5-14 (2013)
   PUBMED   23064873
  REMARK    GeneRIF: findings demonstrate that the HOXB13 G84E mutation is
            present in ~5 % of prostate cancer families, predominantly of
            European descent, and confirm its association with prostate cancer
            risk
REFERENCE   5  (bases 1 to 3047)
  AUTHORS   Akbari,M.R., Kluzniak,W., Rodin,R., Li,S., Wokolorczyk,D.,
            Royer,R., Kashyap,A., Menkiszak,J., Lubinski,J., Narod,S.A. and
            Cybulski,C.
  TITLE     The HOXB13 p.Gly84Glu mutation is not associated with the risk of
            breast cancer
  JOURNAL   Breast Cancer Res. Treat. 136 (3), 907-909 (2012)
   PUBMED   23099437
  REMARK    GeneRIF: Women who carry the HOXB13 Gly84Glu mutation are not at
            increased risk of breast cancer.
REFERENCE   6  (bases 1 to 3047)
  AUTHORS   Komuves,L.G., Ma,X.K., Stelnicki,E., Rozenfeld,S., Oda,Y. and
            Largman,C.
  TITLE     HOXB13 homeodomain protein is cytoplasmic throughout fetal skin
            development
  JOURNAL   Dev. Dyn. 227 (2), 192-202 (2003)
   PUBMED   12761847
  REMARK    GeneRIF: Epidermal HOXB13 signal was detected over the entire body
            surface, but surprisingly, essentially all of the signal was
            cytoplasmic in developing skin.
REFERENCE   7  (bases 1 to 3047)
  AUTHORS   Kosaki,K., Kosaki,R., Suzuki,T., Yoshihashi,H., Takahashi,T.,
            Sasaki,K., Tomita,M., McGinnis,W. and Matsuo,N.
  TITLE     Complete mutation analysis panel of the 39 human HOX genes
  JOURNAL   Teratology 65 (2), 50-62 (2002)
   PUBMED   11857506
REFERENCE   8  (bases 1 to 3047)
  AUTHORS   Stelnicki,E.J., Arbeit,J., Cass,D.L., Saner,C., Harrison,M. and
            Largman,C.
  TITLE     Modulation of the human homeobox genes PRX-2 and HOXB13 in scarless
            fetal wounds
  JOURNAL   J. Invest. Dermatol. 111 (1), 57-63 (1998)
   PUBMED   9665387
REFERENCE   9  (bases 1 to 3047)
  AUTHORS   Shen,W.F., Montgomery,J.C., Rozenfeld,S., Moskow,J.J.,
            Lawrence,H.J., Buchberg,A.M. and Largman,C.
  TITLE     AbdB-like Hox proteins stabilize DNA binding by the Meis1
            homeodomain proteins
  JOURNAL   Mol. Cell. Biol. 17 (11), 6448-6458 (1997)
   PUBMED   9343407
REFERENCE   10 (bases 1 to 3047)
  AUTHORS   Zeltser,L., Desplan,C. and Heintz,N.
  TITLE     Hoxb-13: a new Hox gene in a distant region of the HOXB cluster
            maintains colinearity
  JOURNAL   Development 122 (8), 2475-2484 (1996)
   PUBMED   8756292
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY937237.1 and BC070233.1.
            On Dec 29, 2005 this sequence version replaced gi:70167332.
            
            Summary: This gene encodes a transcription factor that belongs to
            the homeobox gene family. Genes of this family are highly conserved
            among vertebrates and essential for vertebrate embryonic
            development. This gene has been implicated to play a role in fetal
            skin development and cutaneous regeneration. In mice, a similar
            gene was shown to exhibit temporal and spatial colinearity in the
            main body axis of the embryo, but was not expressed in the
            secondary axes, which suggests functions in body patterning along
            the axis. This gene and other HOXB genes form a gene cluster at
            chromosome the 17q21-22 region. [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 :: AY937237.1, BC070233.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025084, ERS025088 [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-521               AY937237.1         10-530
            522-1418            BC070233.1         457-1353
            1419-3047           AY937237.1         1428-3056
FEATURES             Location/Qualifiers
     source          1..3047
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..3047
                     /gene="HOXB13"
                     /gene_synonym="PSGD"
                     /note="homeobox B13"
                     /db_xref="GeneID:10481"
                     /db_xref="HGNC:5112"
                     /db_xref="MIM:604607"
     exon            1..757
                     /gene="HOXB13"
                     /gene_synonym="PSGD"
                     /inference="alignment:Splign:1.39.8"
     CDS             157..1011
                     /gene="HOXB13"
                     /gene_synonym="PSGD"
                     /note="homeo box B13"
                     /codon_start=1
                     /product="homeobox protein Hox-B13"
                     /protein_id="NP_006352.2"
                     /db_xref="GI:62865866"
                     /db_xref="CCDS:CCDS11536.1"
                     /db_xref="GeneID:10481"
                     /db_xref="HGNC:5112"
                     /db_xref="MIM:604607"
                     /translation="

MEPGNYATLDGAKDIEGLLGAGGGRNLVAHSPLTSHPAAPTLMPAVNYAPLDLPGSAEPPKQCHPCPGVPQGTSPAPVPYGYFGGGYYSCRVSRSSLKPCAQAATLAAYPAETPTAGEEYPSRPTEFAFYPGYPGTYQPMASYLDVSVVQTLGAPGEPRHDSLLPVDSYQSWALAGGWNSQMCCQGEQNPPGPFWKAAFADSSGQHPPDACAFRRGRKKRIPYSKGQLRELEREYAANKFITKDKRRKISAATSLSERQITIWFQNRRVKEKKVLAKVKNSATP

"
     misc_feature    184..525
                     /gene="HOXB13"
                     /gene_synonym="PSGD"
                     /note="Hox protein A13 N terminal; Region: HoxA13_N;
                     pfam12284"
                     /db_xref="CDD:152719"
     misc_feature    805..975
                     /gene="HOXB13"
                     /gene_synonym="PSGD"
                     /note="Homeodomain;  DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; Region:
                     homeodomain; cd00086"
                     /db_xref="CDD:28970"
     misc_feature    order(805..819,823..825,874..876,892..894,931..933,
                     937..942,949..954,958..966,970..975)
                     /gene="HOXB13"
                     /gene_synonym="PSGD"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(811..813,820..822,940..942,949..954,961..963)
                     /gene="HOXB13"
                     /gene_synonym="PSGD"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     variation       301
                     /gene="HOXB13"
                     /gene_synonym="PSGD"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:11551892"
     variation       486
                     /gene="HOXB13"
                     /gene_synonym="PSGD"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:33993186"
     variation       522
                     /gene="HOXB13"
                     /gene_synonym="PSGD"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:8556"
     variation       630
                     /gene="HOXB13"
                     /gene_synonym="PSGD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:35033273"
     exon            758..3038
                     /gene="HOXB13"
                     /gene_synonym="PSGD"
                     /inference="alignment:Splign:1.39.8"
     STS             866..1477
                     /gene="HOXB13"
                     /gene_synonym="PSGD"
                     /standard_name="HOXB13_3036"
                     /db_xref="UniSTS:462254"
     STS             1010..1238
                     /gene="HOXB13"
                     /gene_synonym="PSGD"
                     /standard_name="STS-U81599"
                     /db_xref="UniSTS:3855"
     variation       1312
                     /gene="HOXB13"
                     /gene_synonym="PSGD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2280353"
     variation       1330
                     /gene="HOXB13"
                     /gene_synonym="PSGD"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2280354"
     variation       2168
                     /gene="HOXB13"
                     /gene_synonym="PSGD"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1056656"
ORIGIN

tcttgcgtcaagacggccgtgctgagcgaatgcaggcgacttgcgagctgggagcgatttaaaacgctttggattcccccggcctgggtggggagagcgagctgggtgccccctagattccccgcccccgcacctcatgagccgaccctcggctccatggagcccggcaattatgccaccttggatggagccaaggatatcgaaggcttgctgggagcgggaggggggcggaatctggtcgcccactcccctctgaccagccacccagcggcgcctacgctgatgcctgctgtcaactatgcccccttggatctgccaggctcggcggagccgccaaagcaatgccacccatgccctggggtgccccaggggacgtccccagctcccgtgccttatggttactttggaggcgggtactactcctgccgagtgtcccggagctcgctgaaaccctgtgcccaggcagccaccctggccgcgtaccccgcggagactcccacggccggggaagagtaccccagccgccccactgagtttgccttctatccgggatatccgggaacctaccagcctatggccagttacctggacgtgtctgtggtgcagactctgggtgctcctggagaaccgcgacatgactccctgttgcctgtggacagttaccagtcttgggctctcgctggtggctggaacagccagatgtgttgccagggagaacagaacccaccaggtcccttttggaaggcagcatttgcagactccagcgggcagcaccctcctgacgcctgcgcctttcgtcgcggccgcaagaaacgcattccgtacagcaaggggcagttgcgggagctggagcgggagtatgcggctaacaagttcatcaccaaggacaagaggcgcaagatctcggcagccaccagcctctcggagcgccagattaccatctggtttcagaaccgccgggtcaaagagaagaaggttctcgccaaggtgaagaacagcgctaccccttaagagatctccttgcctgggtgggaggagcgaaagtgggggtgtcctggggagaccaggaacctgccaagcccaggctggggccaaggactctgctgagaggcccctagagacaacacccttcccaggccactggctgctggactgttcctcaggagcggcctgggtacccagtatgtgcagggagacggaaccccatgtgacagcccactccaccagggttcccaaagaacctggcccagtcataatcattcatcctgacagtggcaataatcacgataaccagtactagctgccatgatcgttagcctcatattttctatctagagctctgtagagcactttagaaaccgctttcatgaattgagctaattatgaataaatttggaaggcgatccctttgcagggaagctttctctcagacccccttccattacacctctcaccctggtaacagcaggaagactgaggagaggggaacgggcagattcgttgtgtggctgtgatgtccgtttagcatttttctcagctgacagctgggtaggtggacaattgtagaggctgtctcttcctccctccttgtccaccccatagggtgtacccactggtcttggaagcacccatccttaatacgatgatttttctgtcgtgtgaaaatgaagccagcaggctgcccctagtcagtccttccttccagagaaaaagagatttgagaaagtgcctgggtaattcaccattaatttcctcccccaaactctctgagtcttcccttaatatttctggtggttctgaccaaagcaggtcatggtttgttgagcatttgggatcccagtgaagtagatgtttgtagccttgcatacttagcccttcccaggcacaaacggagtggcagagtggtgccaaccctgttttcccagtccacgtagacagattcacagtgcggaattctggaagctggagacagacgggctctttgcagagccgggactctgagagggacatgagggcctctgcctctgtgttcattctctgatgtcctgtacctgggctcagtgcccggtgggactcatctcctggccgcgcagcaaagccagcgggttcgtgctggtccttcctgcaccttaggctgggggtggggggcctgccggcgcattctccacgattgagcgcacaggcctgaagtctggacaacccgcagaaccgaagctccgagcagcgggtcggtggcgagtagtggggtcggtggcgagcagttggtggtgggccgcggccgccactacctcgaggacatttccctcccggagccagctctcctagaaaccccgcggcggccgccgcagccaagtgtttatggcccgcggtcgggtgggatcctagccctgtctcctctcctgggaaggagtgagggtgggacgtgacttagacacctacaaatctatttaccaaagaggagcccgggactgagggaaaaggccaaagagtgtgagtgcatgcggactgggggttcaggggaagaggacgaggaggaggaagatgaggtcgatttcctgatttaaaaaatcgtccaagccccgtggtccagcttaaggtcctcggttacatgcgccgctcagagcaggtcactttctgccttccacgtcctccttcaaggaagccccatgtgggtagctttcaatatcgcaggttcttactcctctgcctctataagctcaaacccaccaacgatcgggcaagtaaaccccctccctcgccgacttcggaactggcgagagttcagcgcagatgggcctgtggggagggggcaagatagatgagggggagcggcatggtgcggggtgaccccttggagagaggaaaaaggccacaagaggggctgccaccgccactaacggagatggccctggtagagacctttgggggtctggaacctctggactccccatgctctaactcccacactctgctatcagaaacttaaacttgaggattttctctgtttttcactcgcaataaattcagagcaaacaaaaaaaaaaaaa

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