LOCUS       NM_031885               2704 bp    mRNA    linear   PRI 20-OCT-2024
DEFINITION  Homo sapiens Bardet-Biedl syndrome 2 (BBS2), transcript variant 1,
            mRNA.
ACCESSION   NM_031885
VERSION     NM_031885.5
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 2704)
  AUTHORS   Li,M., Li,Y., Wen,T., Zhou,H. and Xie,W.
  TITLE     Clinical features of a novel compound heterozygous genotype of the
            BBS2 gene: a case report
  JOURNAL   J Int Med Res 52 (8), 3000605241274239 (2024)
   PUBMED   39175229
  REMARK    GeneRIF: Clinical features of a novel compound heterozygous
            genotype of the BBS2 gene: a case report.
REFERENCE   2  (bases 1 to 2704)
  AUTHORS   Kantaputra,P., Dejkhamron,P., Sittiwangkul,R., Katanyuwong,K.,
            Ngamphiw,C., Sonsuwan,N., Intachai,W., Tongsima,S., Beales,P.L. and
            Buranaphatthana,W.
  TITLE     Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2,
            BBS7, and EVC2 Mutations
  JOURNAL   Genes (Basel) 14 (1), 84 (2022)
   PUBMED   36672825
  REMARK    GeneRIF: Dental Anomalies in Ciliopathies: Lessons from Patients
            with BBS2, BBS7, and EVC2 Mutations.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2704)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 2704)
  AUTHORS   Katsanis,N., Ansley,S.J., Badano,J.L., Eichers,E.R., Lewis,R.A.,
            Hoskins,B.E., Scambler,P.J., Davidson,W.S., Beales,P.L. and
            Lupski,J.R.
  TITLE     Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian
            recessive disorder
  JOURNAL   Science 293 (5538), 2256-2259 (2001)
   PUBMED   11567139
  REMARK    GeneRIF: Unaffected individuals in 2 pedigrees had 2 but not all 3
            mutations that affecteds had which suggests that Bardet-Biedle
            syndrome might not be a single-gene recessive disease but a complex
            trait requiring three mutant alleles to manifest the phenotype.
REFERENCE   5  (bases 1 to 2704)
  AUTHORS   Nishimura,D.Y., Searby,C.C., Carmi,R., Elbedour,K., Van
            Maldergem,L., Fulton,A.B., Lam,B.L., Powell,B.R., Swiderski,R.E.,
            Bugge,K.E., Haider,N.B., Kwitek-Black,A.E., Ying,L., Duhl,D.M.,
            Gorman,S.W., Heon,E., Iannaccone,A., Bonneau,D., Biesecker,L.G.,
            Jacobson,S.G., Stone,E.M. and Sheffield,V.C.
  TITLE     Positional cloning of a novel gene on chromosome 16q causing
            Bardet-Biedl syndrome (BBS2)
  JOURNAL   Hum Mol Genet 10 (8), 865-874 (2001)
   PUBMED   11285252
REFERENCE   6  (bases 1 to 2704)
  AUTHORS   Beales,P.L., Reid,H.A., Griffiths,M.H., Maher,E.R., Flinter,F.A.
            and Woolf,A.S.
  TITLE     Renal cancer and malformations in relatives of patients with
            Bardet-Biedl syndrome
  JOURNAL   Nephrol Dial Transplant 15 (12), 1977-1985 (2000)
   PUBMED   11096143
REFERENCE   7  (bases 1 to 2704)
  AUTHORS   Kwitek-Black,A.E., Carmi,R., Duyk,G.M., Buetow,K.H., Elbedour,K.,
            Parvari,R., Yandava,C.N., Stone,E.M. and Sheffield,V.C.
  TITLE     Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for
            non-allelic genetic heterogeneity
  JOURNAL   Nat Genet 5 (4), 392-396 (1993)
   PUBMED   8298649
REFERENCE   8  (bases 1 to 2704)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line 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   20301743
REFERENCE   9  (bases 1 to 2704)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   10 (bases 1 to 2704)
  AUTHORS   Forsyth,R. and Gunay-Aygun,M.
  TITLE     Bardet-Biedl Syndrome Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301537
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA437930.1, AC009155.3,
            AF342736.1 and DB316257.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jan 13, 2020 this sequence version replaced NM_031885.4.
            
            Summary: This gene is a member of the Bardet-Biedl syndrome (BBS)
            gene family. Bardet-Biedl syndrome is an autosomal recessive
            disorder characterized by severe pigmentary retinopathy, obesity,
            polydactyly, renal malformation and cognitive disability. The
            proteins encoded by BBS gene family members are structurally
            diverse and the similar phenotypes exhibited by mutations in BBS
            gene family members is likely due to their shared roles in cilia
            formation and function. Many BBS proteins localize to the basal
            bodies, ciliary axonemes, and pericentriolar regions of cells. BBS
            proteins may also be involved in intracellular trafficking via
            microtubule-related transport. The protein encoded by this gene
            forms a multiprotein BBSome complex with seven other BBS
            proteins.[provided by RefSeq, Oct 2014].
            
            Transcript Variant: Variants 1 and 2 encodes the same protein.
            
            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 :: AK027635.1, AF342736.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000245157.11/ ENSP00000245157.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-370               DA437930.1         76-445
            371-371             AC009155.3         51965-51965         c
            372-467             DA437930.1         447-542
            468-2638            AF342736.1         727-2897
            2639-2704           DB316257.1         39-104              c
FEATURES             Location/Qualifiers
     source          1..2704
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q13"
     gene            1..2704
                     /gene="BBS2"
                     /gene_synonym="BBS; RP74"
                     /note="Bardet-Biedl syndrome 2"
                     /db_xref="GeneID:583"
                     /db_xref="HGNC:HGNC:967"
                     /db_xref="MIM:606151"
     exon            1..279
                     /gene="BBS2"
                     /gene_synonym="BBS; RP74"
                     /inference="alignment:Splign:2.1.0"
     CDS             163..2328
                     /gene="BBS2"
                     /gene_synonym="BBS; RP74"
                     /note="bardet-Biedl syndrome 2 protein"
                     /codon_start=1
                     /product="BBSome complex member BBS2"
                     /protein_id="NP_114091.4"
                     /db_xref="CCDS:CCDS32451.1"
                     /db_xref="GeneID:583"
                     /db_xref="HGNC:HGNC:967"
                     /db_xref="MIM:606151"
                     /translation="MLLPVFTLKLRHKISPRMVAIGRYDGTHPCLAAATQTGKVFIHN
                     PHTRNQHVSASRVFQSPLESDVSLLSINQAVSCLTAGVLNPELGYDALLVGTQTNLLA
                     YDVYNNSDLFYREVADGANAIVLGTLGDISSPLAIIGGNCALQGFNHEGSDLFWTVTG
                     DNVNSLALCDFDGDGKKELLVGSEDFDIRVFKEDEIVAEMTETEIVTSLCPMYGSRFG
                     YALSNGTVGVYDKTSRYWRIKSKNHAMSIHAFDLNSDGVNELITGWSNGKVDARSDRT
                     GEVIFKDNFSSAIAGVVEGDYRMDGHIQLICCSVDGEIRGYLPGTAEMRGNLMDTSAE
                     QDLIRELSQKKQNLLLELRNYEENAKAELASPLNEADGHRGIIPANTRLHTTLSVSLG
                     NETQTAHTELRISTSNDTIIRAVLIFAEGIFTGESHVVHPSIHNLSSSICIPIVPPKD
                     VPVDLHLKAFVGYRSSTQFHVFESTRQLPRFSMYALTSLDPASEPISYVNFTIAERAQ
                     RVVVWLGQNFLLPEDTHIQNAPFQVCFTSLRNGGHLHIKIKLSGEITINTDDIDLAGD
                     IIQSMASFFAIEDLQVEADFPVYFEELRKVLVKVDEYHSVHQKLSADMADHSNLIRSL
                     LVGAEDARLMRDMKTMKSRYMELYDLNRDLLNGYKIRCNNHTELLGNLKAVNQAIQRA
                     GRLRVGKPKNQVITACRDAIRSNNINTLFKIMRVGTASS"
     exon            280..507
                     /gene="BBS2"
                     /gene_synonym="BBS; RP74"
                     /inference="alignment:Splign:2.1.0"
     exon            508..633
                     /gene="BBS2"
                     /gene_synonym="BBS; RP74"
                     /inference="alignment:Splign:2.1.0"
     exon            634..696
                     /gene="BBS2"
                     /gene_synonym="BBS; RP74"
                     /inference="alignment:Splign:2.1.0"
     exon            697..774
                     /gene="BBS2"
                     /gene_synonym="BBS; RP74"
                     /inference="alignment:Splign:2.1.0"
     exon            775..879
                     /gene="BBS2"
                     /gene_synonym="BBS; RP74"
                     /inference="alignment:Splign:2.1.0"
     exon            880..966
                     /gene="BBS2"
                     /gene_synonym="BBS; RP74"
                     /inference="alignment:Splign:2.1.0"
     exon            967..1102
                     /gene="BBS2"
                     /gene_synonym="BBS; RP74"
                     /inference="alignment:Splign:2.1.0"
     exon            1103..1242
                     /gene="BBS2"
                     /gene_synonym="BBS; RP74"
                     /inference="alignment:Splign:2.1.0"
     exon            1243..1387
                     /gene="BBS2"
                     /gene_synonym="BBS; RP74"
                     /inference="alignment:Splign:2.1.0"
     exon            1388..1559
                     /gene="BBS2"
                     /gene_synonym="BBS; RP74"
                     /inference="alignment:Splign:2.1.0"
     exon            1560..1689
                     /gene="BBS2"
                     /gene_synonym="BBS; RP74"
                     /inference="alignment:Splign:2.1.0"
     exon            1690..1821
                     /gene="BBS2"
                     /gene_synonym="BBS; RP74"
                     /inference="alignment:Splign:2.1.0"
     exon            1822..1959
                     /gene="BBS2"
                     /gene_synonym="BBS; RP74"
                     /inference="alignment:Splign:2.1.0"
     exon            1960..2072
                     /gene="BBS2"
                     /gene_synonym="BBS; RP74"
                     /inference="alignment:Splign:2.1.0"
     exon            2073..2221
                     /gene="BBS2"
                     /gene_synonym="BBS; RP74"
                     /inference="alignment:Splign:2.1.0"
     exon            2222..2704
                     /gene="BBS2"
                     /gene_synonym="BBS; RP74"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2683..2688
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBS2"
                     /gene_synonym="BBS; RP74"
                     /note="hexamer: ATTAAA"
     polyA_site      2704
                     /gene="BBS2"
                     /gene_synonym="BBS; RP74"
                     /note="major polyA site"
ORIGIN      
        1 aggcggtacc tggacgggtt cgtcccgggc tgtttcgcgt ccggcctgag gcggctgggg
       61 ccgcgcaggt agtgtccctg cacttcttgc ccgggcgcgt gaggccagct ccgctgcgct
      121 tgtctccagc ttccagccct cctcccctaa gccgccgcca tcatgctgct gcctgtgttc
      181 accctgaaac tgcgccacaa aatcagcccc cgaatggtgg ccatagggcg ctacgacggg
      241 actcacccgt gcctggcggc cgccacccaa acgggcaagg tttttattca taatcctcat
      301 acacggaacc agcatgtcag tgcatccagg gtcttccaga gccccctgga atctgatgtt
      361 tctcttctca gcattaacca ggcagtcagc tgtctgactg caggcgtatt gaaccctgag
      421 cttggctatg atgccctttt agtggggaca cagactaatc ttttggctta tgatgtctac
      481 aataattcgg atttgttcta cagagaggta gcagatgggg caaatgcaat tgtgctgggg
      541 acattgggag acatttcttc ccctcttgcg attattggtg gcaattgtgc tctgcaaggt
      601 ttcaatcatg aaggaagtga tctcttttgg acggttactg gagacaatgt taattccttg
      661 gccttgtgtg actttgatgg tgatggaaag aaagagcttc ttgttggatc tgaggatttt
      721 gatatccgag tttttaagga agatgagatt gtggcagaaa tgacagaaac agagatagtc
      781 acctctcttt gtcccatgta tggcagtcga tttggttatg ccctttccaa tggcacagtt
      841 ggagtttatg acaaaacatc ccgatactgg agaattaaat cgaaaaatca tgccatgagc
      901 attcatgctt ttgaccttaa ttctgatgga gtgaatgaac tgataactgg ttggtccaat
      961 gggaaggttg atgctcgaag tgaccgaact ggggaggtca tctttaagga caatttttct
     1021 tctgcaattg ccggtgtggt agagggagat taccggatgg atggccacat acagttaatc
     1081 tgctgctcag tggatgggga aatccggggc tacctgcctg gcacggctga gatgaggggc
     1141 aacctcatgg acaccagtgc agagcaggac ctgatccgag agctgagtca gaagaagcag
     1201 aatctgttgc tggaactccg taactatgag gaaaatgcca aggctgaatt ggccagtcca
     1261 ctgaacgagg ctgatgggca tcggggcata atcccagcca ataccaggct ccacaccacg
     1321 ctctcagtca gcctggggaa tgagacccaa actgctcata cagaattacg catttccact
     1381 tctaatgaca ccatcatccg agcagtattg atttttgcag aaggaatttt tacaggtgaa
     1441 agccacgtgg tacatcccag cattcacaac ctctccagtt ccatctgcat ccctattgtg
     1501 cctcccaaag atgtccctgt ggatctgcac ttgaaggcat tcgtgggtta cagaagcagc
     1561 acccagtttc atgtatttga atcgacaaga cagctccctc gattctccat gtatgcgctg
     1621 accagcctgg accctgccag tgagccaatc agttatgtta actttaccat tgcagaacgg
     1681 gcacagaggg ttgttgtatg gctcggtcag aactttctgt taccagaaga cactcacatt
     1741 cagaatgctc catttcaagt gtgtttcaca tctttacgga atggcggcca cctgcatata
     1801 aaaataaaac ttagtggaga gatcactata aatactgatg atattgattt ggctggtgat
     1861 atcatccagt caatggcatc attttttgct attgaagacc ttcaagtaga agcggatttt
     1921 cctgtctatt ttgaggaatt acgaaaggtg ctagttaagg tggatgaata tcattcagtg
     1981 catcagaagc tcagtgctga tatggctgat cattctaatt tgatccgaag tttgctggtc
     2041 ggagctgagg atgctcgtct gatgagggac atgaaaacaa tgaagagtcg ttatatggaa
     2101 ctctatgacc ttaatagaga cttgctaaat ggatataaaa ttcgctgtaa caatcacaca
     2161 gagctgttgg gaaacctcaa agcagtaaat caagcaattc aaagagcagg tcgtctgcgg
     2221 gttggaaaac caaagaacca ggtgatcact gcttgtcggg atgcaattcg aagcaataac
     2281 atcaacacac tgttcaaaat catgcgagtg gggacagctt cttcctaggt gaggaaaata
     2341 caggtcatga agttcctggc aaagattttc tgttaaaaac ctatgctggt ttgctttgga
     2401 tcacaccctg gtgaaccccg ggtgctaaga atgaaaataa ccttggtgag ttgtacaaat
     2461 taaagacaaa gaactacatg tgaagataga cttgctttct atttttaaat cagtagtagt
     2521 actgttgctg aataatacta ggtttttatg gaataggatg aatgcttttg aagtattagg
     2581 gcttcagagt ccaattttgc ttatttatgg tatataaata catatttttt tcttgaaatt
     2641 gcaattgagt ttgtactttt caaatagatt atctactttt tcattaaaat gtaaagatgt
     2701 taaa
//
