LOCUS       NM_030578               1007 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens B9 domain containing 2 (B9D2), mRNA.
ACCESSION   NM_030578
VERSION     NM_030578.4
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 1007)
  AUTHORS   Caenen-Braz,C., Bouzhir,L. and Dupuis-Williams,P.
  TITLE     New functions of B9D2 in tight junctions and epithelial polarity
  JOURNAL   Sci Rep 14 (1), 25293 (2024)
   PUBMED   39455645
  REMARK    GeneRIF: New functions of B9D2 in tight junctions and epithelial
            polarity.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1007)
  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   3  (bases 1 to 1007)
  AUTHORS   Okazaki,M., Kobayashi,T., Chiba,S., Takei,R., Liang,L., Nakayama,K.
            and Katoh,Y.
  TITLE     Formation of the B9-domain protein complex MKS1-B9D2-B9D1 is
            essential as a diffusion barrier for ciliary membrane proteins
  JOURNAL   Mol Biol Cell 31 (20), 2259-2268 (2020)
   PUBMED   32726168
  REMARK    GeneRIF: Formation of the B9-domain protein complex MKS1-B9D2-B9D1
            is essential as a diffusion barrier for ciliary membrane proteins.
REFERENCE   4  (bases 1 to 1007)
  AUTHORS   Guey,L.T., Garcia-Closas,M., Murta-Nascimento,C., Lloreta,J.,
            Palencia,L., Kogevinas,M., Rothman,N., Vellalta,G., Calle,M.L.,
            Marenne,G., Tardon,A., Carrato,A., Garcia-Closas,R., Serra,C.,
            Silverman,D.T., Chanock,S., Real,F.X. and Malats,N.
  CONSRTM   EPICURO/Spanish Bladder Cancer Study investigators
  TITLE     Genetic susceptibility to distinct bladder cancer subphenotypes
  JOURNAL   Eur Urol 57 (2), 283-292 (2010)
   PUBMED   19692168
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 1007)
  AUTHORS   Bialas,N.J., Inglis,P.N., Li,C., Robinson,J.F., Parker,J.D.,
            Healey,M.P., Davis,E.E., Inglis,C.D., Toivonen,T., Cottell,D.C.,
            Blacque,O.E., Quarmby,L.M., Katsanis,N. and Leroux,M.R.
  TITLE     Functional interactions between the ciliopathy-associated Meckel
            syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR)
            proteins
  JOURNAL   J Cell Sci 122 (Pt 5), 611-624 (2009)
   PUBMED   19208769
  REMARK    GeneRIF: MKS-1 and MKS-1-related proteins 1 and 2 (MKSR-1/EPPB9,
            MKSR-2/B9D2), localize to transition zones/basal bodies of sensory
            cilia; subcellular localization is largely co-dependent, pointing
            to a functional relationship between the proteins
REFERENCE   6  (bases 1 to 1007)
  AUTHORS   Town,T., Breunig,J.J., Sarkisian,M.R., Spilianakis,C., Ayoub,A.E.,
            Liu,X., Ferrandino,A.F., Gallagher,A.R., Li,M.O., Rakic,P. and
            Flavell,R.A.
  TITLE     The stumpy gene is required for mammalian ciliogenesis
  JOURNAL   Proc Natl Acad Sci U S A 105 (8), 2853-2858 (2008)
   PUBMED   18287022
REFERENCE   7  (bases 1 to 1007)
  AUTHORS   Ponsard,C., Skowron-Zwarg,M., Seltzer,V., Perret,E., Gallinger,J.,
            Fisch,C., Dupuis-Williams,P., Caruso,N., Middendorp,S. and
            Tournier,F.
  TITLE     Identification of ICIS-1, a new protein involved in cilia stability
  JOURNAL   Front Biosci 12, 1661-1669 (2007)
   PUBMED   17127412
  REMARK    GeneRIF: The ICIS-1 (Involved in CIlia Stability-1)gene is
            localized within the TGF-beta1 promoter and is upregulated during
            mucociliary differentiation.
            GeneRIF: ICIS-1 is a new protein associated with ciliated cells and
            potentially related to cilia stability.  This gene is localized
            within the TGF-beta1 promoter and is ubiquitously expressed in
            human tissues.
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 1007)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   9  (bases 1 to 1007)
  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   10 (bases 1 to 1007)
  AUTHORS   Parisi,M. and Glass,I.
  TITLE     Joubert Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301500
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA196504.1, BM833644.1,
            BC004157.2 and BU609059.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_030578.3.
            
            Summary: This gene encodes a B9 domain protein, which are
            exclusively found in ciliated organisms. The gene is upregulated
            during mucociliary differentiation, and the encoded protein
            localizes to basal bodies and cilia. Disrupting expression of this
            gene results in ciliogenesis defects. [provided by RefSeq, Oct
            2009].
            
            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 :: SRR1163657.38730.1,
                                           SRR5189652.35644.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000243578.8/ ENSP00000243578.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 DA196504.1         178-180             c
            4-229               BM833644.1         1-226
            230-1003            BC004157.2         213-986
            1004-1007           BU609059.1         19-22               c
FEATURES             Location/Qualifiers
     source          1..1007
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..1007
                     /gene="B9D2"
                     /gene_synonym="ICIS-1; JBTS34; MKS10; MKSR-2; MKSR2"
                     /note="B9 domain containing 2"
                     /db_xref="GeneID:80776"
                     /db_xref="HGNC:HGNC:28636"
                     /db_xref="MIM:611951"
     exon            1..192
                     /gene="B9D2"
                     /gene_synonym="ICIS-1; JBTS34; MKS10; MKSR-2; MKSR2"
                     /inference="alignment:Splign:2.1.0"
     exon            193..284
                     /gene="B9D2"
                     /gene_synonym="ICIS-1; JBTS34; MKS10; MKSR-2; MKSR2"
                     /inference="alignment:Splign:2.1.0"
     CDS             197..724
                     /gene="B9D2"
                     /gene_synonym="ICIS-1; JBTS34; MKS10; MKSR-2; MKSR2"
                     /note="MKS1-related protein 2; involved in cIlia
                     stability-1; B9 protein domain 2"
                     /codon_start=1
                     /product="B9 domain-containing protein 2"
                     /protein_id="NP_085055.2"
                     /db_xref="CCDS:CCDS12579.1"
                     /db_xref="GeneID:80776"
                     /db_xref="HGNC:HGNC:28636"
                     /db_xref="MIM:611951"
                     /translation="MAEVHVIGQIIGASGFSESSLFCKWGIHTGAAWKLLSGVREGQT
                     QVDTPQIGDMAYWSHPIDLHFATKGLQGWPRLHFQVWSQDSFGRCQLAGYGFCHVPSS
                     PGTHQLACPTWRPLGSWREQLARAFVGGGPQLLHGDTIYSGADRYRLHTAAGGTVHLE
                     IGLLLRNFDRYGVEC"
     exon            285..410
                     /gene="B9D2"
                     /gene_synonym="ICIS-1; JBTS34; MKS10; MKSR-2; MKSR2"
                     /inference="alignment:Splign:2.1.0"
     exon            411..1007
                     /gene="B9D2"
                     /gene_synonym="ICIS-1; JBTS34; MKS10; MKSR-2; MKSR2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      983..988
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B9D2"
                     /gene_synonym="ICIS-1; JBTS34; MKS10; MKSR-2; MKSR2"
                     /note="hexamer: AGTAAA"
     polyA_site      1007
                     /gene="B9D2"
                     /gene_synonym="ICIS-1; JBTS34; MKS10; MKSR-2; MKSR2"
                     /note="major polyA site"
ORIGIN      
        1 agcaacaacc acggaaacca agacgagcgc ggtcgcggaa gtatcgcggc ttacatatct
       61 cgcagccagg cgggtcctgg gagaggcgcg agccaggcct ggtcggcgcc cgcggagaaa
      121 agaagcagtc aagcccatga actacaaccc cggttgccgc tttctcctct cctaaccgtt
      181 aagtgcgcta agggccatgg ctgaggtgca cgtgatcggg cagatcatag gggccagcgg
      241 tttctcggaa agtagcctct tctgcaagtg gggcattcac acaggggcgg catggaagct
      301 cctgtcaggc gtgcgggagg gccaaacgca agtggacacc ccgcagatag gggacatggc
      361 ttactggtcc caccccatcg acctgcactt cgccaccaaa ggtcttcaag gctggccccg
      421 gctccatttc caggtgtggt cccaggacag ctttggccgc tgccagcttg caggctatgg
      481 attttgccat gtgcccagta gcccgggcac ccaccagctg gcctgcccca cgtggcggcc
      541 cctgggcagt tggcgagaac agttggcacg ggctttcgtg ggtggtgggc cgcagctgct
      601 gcatggggac accatctaca gtggggccga ccgctatcgc ctgcacacag ctgctggtgg
      661 caccgtgcac ctggagatcg gcctgctgct ccgcaacttc gaccgctacg gcgtggagtg
      721 ctgagggact ctgcctccaa cgtcaccacc atccacaccc cggacaccca gtgatggggg
      781 aggatggcac agtggtcaag agcacagact ctagagactg tcagagctga ccccagctaa
      841 ggcatggcac cgcttctgtc ctttctagga cctcggggtc cctctgggcc cagtttccct
      901 atctgtaaat tggggacagt aaatgtatgg ggtcgcaggg tgttgagtga caggaggctg
      961 cttagccaca tgggaggtgc tcagtaaagg agagcaattc ttacagg
//
