LOCUS       NM_001018113            3017 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens FA complementation group B (FANCB), transcript variant
            1, mRNA.
ACCESSION   NM_001018113
VERSION     NM_001018113.3
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 3017)
  AUTHORS   Su,L., Huang,H., Gao,M., Li,Y., Shi,R., Chen,C., Li,X., Zhu,G.,
            Liu,H. and Chen,J.
  TITLE     [Association of CDH1, FANCB and APC Gene Polymorphisms with Lung
            Cancer Susceptibility in Chinese Population]
  JOURNAL   Zhongguo Fei Ai Za Zhi 25 (9), 658-664 (2022)
   PUBMED   36172730
  REMARK    GeneRIF: [Association of CDH1, FANCB and APC Gene Polymorphisms
            with Lung Cancer Susceptibility in Chinese Population].
REFERENCE   2  (bases 1 to 3017)
  AUTHORS   Glaas,M.F., Wiek,C., Wolter,L.M., Roellecke,K., Balz,V.,
            Okpanyi,V., Wagenmann,M., Hoffmann,T.K., Grasslin,R.,
            Plettenberg,C., Schipper,J., Hanenberg,H. and Scheckenbach,K.
  TITLE     Mutational and Functional Analysis of FANCB as a Candidate Gene for
            Sporadic Head and Neck Squamous Cell Carcinomas
  JOURNAL   Anticancer Res 38 (3), 1317-1325 (2018)
   PUBMED   29491055
  REMARK    GeneRIF: Four single nucleotide polymorphisms were identified,
            three of which were located in untranslated regions of Fanconi
            anemia group B protein (FANCB) and predicted to be associated with
            normal function.
REFERENCE   3  (bases 1 to 3017)
  AUTHORS   Asur,R.S., Kimble,D.C., Lach,F.P., Jung,M., Donovan,F.X., Kamat,A.,
            Noonan,R.J., Thomas,J.W., Park,M., Chines,P., Vlachos,A.,
            Auerbach,A.D., Smogorzewska,A. and Chandrasekharappa,S.C.
  TITLE     Somatic mosaicism of an intragenic FANCB duplication in both
            fibroblast and peripheral blood cells observed in a Fanconi anemia
            patient leads to milder phenotype
  JOURNAL   Mol Genet Genomic Med 6 (1), 77-91 (2018)
   PUBMED   29193904
  REMARK    GeneRIF: We identified a 9154 bp intragenic duplication in FANCB,
            covering the first coding exon 3 and the flanking regions. The
            duplicated allele gives rise to an aberrant transcript containing
            exon 3 duplication, predicted to introduce a stop codon in FANCB
            protein (p.A319*).
REFERENCE   4  (bases 1 to 3017)
  AUTHORS   Huang,Y., Leung,J.W., Lowery,M., Matsushita,N., Wang,Y., Shen,X.,
            Huong,D., Takata,M., Chen,J. and Li,L.
  TITLE     Modularized functions of the Fanconi anemia core complex
  JOURNAL   Cell Rep 7 (6), 1849-1857 (2014)
   PUBMED   24910428
  REMARK    Erratum:[Cell Rep. 2016 Mar 22;14(11):2761-3]
REFERENCE   5  (bases 1 to 3017)
  AUTHORS   Presta,L., Sims,P., Meng,Y.G., Moran,P., Bullens,S., Bunting,S.,
            Schoenfeld,J., Lowe,D., Lai,J., Rancatore,P., Iverson,M., Lim,A.,
            Chisholm,V., Kelley,R.F., Riederer,M. and Kirchhofer,D.
  TITLE     Generation of a humanized, high affinity anti-tissue factor
            antibody for use as a novel antithrombotic therapeutic
  JOURNAL   Thromb Haemost 85 (3), 379-389 (2001)
   PUBMED   11307801
REFERENCE   6  (bases 1 to 3017)
  AUTHORS   Huang,M., Syed,R., Stura,E.A., Stone,M.J., Stefanko,R.S., Ruf,W.,
            Edgington,T.S. and Wilson,I.A.
  TITLE     The mechanism of an inhibitory antibody on TF-initiated blood
            coagulation revealed by the crystal structures of human tissue
            factor, Fab 5G9 and TF.G9 complex
  JOURNAL   J Mol Biol 275 (5), 873-894 (1998)
   PUBMED   9480775
REFERENCE   7  (bases 1 to 3017)
  AUTHORS   Joenje,H., Oostra,A.B., Wijker,M., di Summa,F.M., van Berkel,C.G.,
            Rooimans,M.A., Ebell,W., van Weel,M., Pronk,J.C., Buchwald,M. and
            Arwert,F.
  TITLE     Evidence for at least eight Fanconi anemia genes
  JOURNAL   Am J Hum Genet 61 (4), 940-944 (1997)
   PUBMED   9382107
REFERENCE   8  (bases 1 to 3017)
  AUTHORS   Muller,Y.A., Ultsch,M.H. and de Vos,A.M.
  TITLE     The crystal structure of the extracellular domain of human tissue
            factor refined to 1.7 A resolution
  JOURNAL   J Mol Biol 256 (1), 144-159 (1996)
   PUBMED   8609606
REFERENCE   9  (bases 1 to 3017)
  AUTHORS   Scott,D.A.
  TITLE     Esophageal Atresia / Tracheoesophageal Fistula Overview - RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301753
REFERENCE   10 (bases 1 to 3017)
  AUTHORS   Mehta,P.A. and Ebens,C.
  TITLE     Fanconi Anemia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301575
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK091383.1, BP236844.1 and
            AC140846.3.
            
            On Nov 22, 2018 this sequence version replaced NM_001018113.2.
            
            Summary: This gene encodes a member of the Fanconi anemia
            complementation group B. This protein is assembled into a
            nucleoprotein complex that is involved in the repair of DNA
            lesions. Mutations in this gene can cause chromosome instability
            and VACTERL syndrome with hydrocephalus. [provided by RefSeq, Apr
            2016].
            
            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 :: BC136558.1, SRR14038195.1933098.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000650831.1/ ENSP00000498215.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 AK091383.1         1-7
            8-205               BP236844.1         1-198
            206-3015            AK091383.1         85-2894
            3016-3017           AC140846.3         2929-2930           c
FEATURES             Location/Qualifiers
     source          1..3017
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     gene            1..3017
                     /gene="FANCB"
                     /gene_synonym="FA2; FAAP90; FAAP95; FAB; FACB"
                     /note="FA complementation group B"
                     /db_xref="GeneID:2187"
                     /db_xref="HGNC:HGNC:3583"
                     /db_xref="MIM:300515"
     exon            1..84
                     /gene="FANCB"
                     /gene_synonym="FA2; FAAP90; FAAP95; FAB; FACB"
                     /inference="alignment:Splign:2.1.0"
     exon            85..205
                     /gene="FANCB"
                     /gene_synonym="FA2; FAAP90; FAAP95; FAB; FACB"
                     /inference="alignment:Splign:2.1.0"
     exon            206..1226
                     /gene="FANCB"
                     /gene_synonym="FA2; FAAP90; FAAP95; FAB; FACB"
                     /inference="alignment:Splign:2.1.0"
     CDS             276..2855
                     /gene="FANCB"
                     /gene_synonym="FA2; FAAP90; FAAP95; FAB; FACB"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Fanconi anemia-associated polypeptide of 95 kDa; Fanconi
                     anemia group B protein; Fanconi anemia complementation
                     group B"
                     /codon_start=1
                     /product="Fanconi anemia group B protein isoform 1"
                     /protein_id="NP_001018123.1"
                     /db_xref="CCDS:CCDS14161.1"
                     /db_xref="GeneID:2187"
                     /db_xref="HGNC:HGNC:3583"
                     /db_xref="MIM:300515"
                     /translation="MTSKQAMSSNEQERLLCYNGEVLVFQLSKGNFADKEPTKTPILH
                     VRRMVFDRGTKVFVQKSTGFFTIKEENSHLKIMCCNCVSDFRTGINLPYIVIEKNKKN
                     NVFEYFLLILHSTNKFEMRLSFKLGYEMKDGLRVLNGPLILWRHVKAFFFISSQTGKV
                     VSVSGNFSSIQWAGEIENLGMVLLGLKECCLSEEECTQEPSKSDYAIWNTKFCVYSLE
                     SQEVLSDIYIIPPAYSSVVTYVHICATEIIKNQLRISLIALTRKNQLISFQNGTPKNV
                     CQLPFGDPCAVQLMDSGGGNLFFVVSFISNNACAVWKESFQVAAKWEKLSLVLIDDFI
                     GSGTEQVLLLFKDSLNSDCLTSFKITDLGKINYSSEPSDCNEDDLFEDKQENRYLVVP
                     PLETGLKVCFSSFRELRQHLLLKEKIISKSYKALINLVQGKDDNTSSAEEKECLVPLC
                     GEEENSVHILDEKLSDNFQDSEQLVEKIWYRVIDDSLVVGVKTTSSLKLSLNDVTLSL
                     LMDQAHDSRFRLLKCQNRVIKLSTNPFPAPYLMPCEIGLEAKRVTLTPDSKKEESFVC
                     EHPSKKECVQIITAVTSLSPLLTFSKFCCTVLLQIMERESGNCPKDRYVVCGRVFLSL
                     EDLSTGKYLLTFPKKKPIEHMEDLFALLAAFHKSCFQITSPGYALNSMKVWLLEHMKC
                     EIIKEFPEVYFCERPGSFYGTLFTWKQRTPFEGILIIYSRNQTVMFQCLHNLIRILPI
                     NCFLKNLKSGSENFLIDNMAFTLEKELVTLSSLSSAIAKHESNFMQRCEVSKGKSSVV
                     AAALSDRRENIHPYRKELQREKKKMLQTNLKVSGALYREITLKVAEVQLKSDFAAQKL
                     SNL"
     exon            1227..1379
                     /gene="FANCB"
                     /gene_synonym="FA2; FAAP90; FAAP95; FAB; FACB"
                     /inference="alignment:Splign:2.1.0"
     exon            1380..1472
                     /gene="FANCB"
                     /gene_synonym="FA2; FAAP90; FAAP95; FAB; FACB"
                     /inference="alignment:Splign:2.1.0"
     exon            1473..1601
                     /gene="FANCB"
                     /gene_synonym="FA2; FAAP90; FAAP95; FAB; FACB"
                     /inference="alignment:Splign:2.1.0"
     exon            1602..1771
                     /gene="FANCB"
                     /gene_synonym="FA2; FAAP90; FAAP95; FAB; FACB"
                     /inference="alignment:Splign:2.1.0"
     exon            1772..2202
                     /gene="FANCB"
                     /gene_synonym="FA2; FAAP90; FAAP95; FAB; FACB"
                     /inference="alignment:Splign:2.1.0"
     exon            2203..2440
                     /gene="FANCB"
                     /gene_synonym="FA2; FAAP90; FAAP95; FAB; FACB"
                     /inference="alignment:Splign:2.1.0"
     exon            2441..3017
                     /gene="FANCB"
                     /gene_synonym="FA2; FAAP90; FAAP95; FAB; FACB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2996..3001
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FANCB"
                     /gene_synonym="FA2; FAAP90; FAAP95; FAB; FACB"
                     /note="hexamer: AATAAA"
     polyA_site      3017
                     /gene="FANCB"
                     /gene_synonym="FA2; FAAP90; FAAP95; FAB; FACB"
                     /note="major polyA site"
ORIGIN      
        1 aggatgcagc gcgctggcgg gaggtttgga gcagatggat accgtatcga cgtggggcct
       61 ccggtatgtt gccgctgcgt tgagtttcat aagtacaagc cagacctttg atttacctac
      121 cctatcttct ttactgatga agctgaaact actttgtgat gcctattgtc ccagatcttt
      181 ctgttaattg cctaacaaca aaccagttta gaaacatcaa ctggaatcaa tttgcatttg
      241 aaaattagat cagcacaaag acttgatatt gtggaatgac tagcaaacaa gcaatgtcat
      301 ctaacgaaca agaaaggctc ttgtgttata atggggaagt ccttgttttc cagttgtcta
      361 aaggaaattt tgcagataaa gagcctacaa aaacacccat attacatgtc agaagaatgg
      421 tatttgacag aggaacaaaa gtatttgttc agaagtccac tggatttttt accataaagg
      481 aagaaaactc tcatttaaaa atcatgtgtt gcaactgtgt gtcagatttc agaactggaa
      541 ttaacctccc ttacattgtg atagaaaaaa ataaaaagaa taatgttttt gaatattttt
      601 tactaatcct tcacagtact aataaatttg aaatgcgttt gagttttaaa ctaggctatg
      661 agatgaagga tggcctaagg gtccttaatg gccctttaat tttatggagg catgtcaaag
      721 cattcttctt tatctcttct caaactggca aagttgttag tgtgtcaggt aacttttcct
      781 ctattcagtg ggcaggggag attgaaaatt taggtatggt tttattggga ctaaaggaat
      841 gttgtttatc tgaggaagaa tgtactcaag agccttcaaa atcagattat gcaatttgga
      901 ataccaaatt ttgtgtatat tctcttgaaa gtcaagaagt attaagtgat atatacatta
      961 ttcctcctgc ttacagcagt gtggtgactt atgtacatat ttgtgcaact gagatcatca
     1021 aaaaccagtt aagaatatct ctcattgccc ttactcgaaa gaatcagctg atttcatttc
     1081 agaatggaac tcctaaaaat gtgtgccagc ttccatttgg agatccttgt gcagttcaac
     1141 ttatggattc aggtggagga aacctctttt tcgttgtatc ctttatatcc aataatgctt
     1201 gtgctgtatg gaaagagagc tttcaggttg ctgctaaatg ggaaaaactt agcttagtac
     1261 tgatagatga ctttattgga agtggaactg aacaagtact cctacttttt aaggactcct
     1321 tgaactcaga ctgcctgact tcatttaaaa taacggatct tggaaaaata aactattcga
     1381 gtgaaccatc agattgcaat gaagatgact tatttgaaga caaacaagag aatcgttacc
     1441 tggtggttcc acctctagaa acaggactga aagtttgttt ttcttctttt cgggaattac
     1501 ggcagcatct gttgcttaag gaaaaaatta tttcaaaatc ttacaaagct ttaataaacc
     1561 tagttcaagg aaaagatgat aatacgtcaa gtgcagagga gaaggaatgt cttgttcctc
     1621 tttgtggtga agaagaaaat tctgtccata tcttagatga aaagttatca gacaattttc
     1681 aagattcaga acagctagta gagaagatat ggtatcgtgt aatagatgat agcttggttg
     1741 ttggagtgaa aactacatct tctttgaagc tgtccctgaa tgatgtgact ttatcattgt
     1801 taatggatca agcccatgac tccagatttc ggcttctaaa gtgtcaaaat agggtgatta
     1861 agttgagtac aaatcctttc ccagcaccat acttgatgcc atgtgaaata ggattggaag
     1921 caaaaagggt cacgttgacc cctgatagca agaaagagga aagctttgtt tgtgaacacc
     1981 catctaagaa agagtgtgta cagataatta ctgctgtaac atctctttca ccacttttaa
     2041 cattcagtaa attttgttgc actgtactgc tacaaattat ggagagagaa agtggtaact
     2101 gtcctaaaga tcgttatgtt gtgtgtggca gagttttttt aagtctagaa gatctttcaa
     2161 ctgggaagta cctactgaca tttccaaaga agaaacctat agagcacatg gaagatcttt
     2221 ttgcacttct tgcagcattc cataaatctt gttttcaaat cacatcaccc ggctatgccc
     2281 tgaattcaat gaaggtgtgg ctcttagaac atatgaaatg tgaaataatc aaagaatttc
     2341 cagaagtgta cttttgtgaa agaccgggaa gtttctatgg gacactcttc acttggaaac
     2401 agagaacacc attcgaaggg attttaataa tctattccag gaatcaaaca gttatgttcc
     2461 agtgccttca taatctcatc agaattctcc ctataaactg tttcctcaaa aatctaaaat
     2521 caggaagtga gaatttccta attgataata tggcatttac tttggagaag gaactagtca
     2581 cccttagttc tctttcttct gccatagcta aacatgaaag caattttatg cagaggtgtg
     2641 aagtgagcaa aggaaagagt agtgtcgtcg cggctgcttt atcagacaga agggaaaata
     2701 tccatcccta cagaaaagaa cttcagagag aaaagaagaa aatgttgcaa acgaacctaa
     2761 aagtgagtgg tgccctttac agagaaataa ctttgaaagt agctgaggtt cagttgaaat
     2821 cagactttgc tgcacagaaa ctgagtaatt tataattata atttcaattt gatcatattt
     2881 taaaatatgt tttcaccacc atataagatt ttggttctac ttgctatatg cctcctttgt
     2941 aaaaataaac accgaggctt actgtagtag aaactttagt tttgatgatg cacaaaataa
     3001 acagcagtgg ttctcaa
//
