LOCUS       NM_172692               3552 bp    mRNA    linear   ROD 26-SEP-2023
DEFINITION  Mus musculus glucosidase beta 2 (Gba2), mRNA.
ACCESSION   NM_172692
VERSION     NM_172692.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 3552)
  AUTHORS   Akiyama H, Ide M, Nagatsuka Y, Sayano T, Nakanishi E, Uemura N,
            Yuyama K, Yamaguchi Y, Kamiguchi H, Takahashi R, Aerts JMFG,
            Greimel P and Hirabayashi Y.
  TITLE     Glucocerebrosidases catalyze a transgalactosylation reaction that
            yields a newly-identified brain sterol metabolite, galactosylated
            cholesterol
  JOURNAL   J Biol Chem 295 (16), 5257-5277 (2020)
   PUBMED   32144204
REFERENCE   2  (bases 1 to 3552)
  AUTHORS   Clarke E, Jantrachotechatchawan C, Buhidma Y, Broadstock M, Yu L,
            Howlett D, Aarsland D, Ballard C and Francis PT.
  TITLE     Age-related neurochemical and behavioural changes in D409V/WT GBA1
            mouse: Relevance to lewy body dementia
  JOURNAL   Neurochem Int 129, 104502 (2019)
   PUBMED   31299418
  REMARK    GeneRIF: In heterozygous GBA1 mutant mice, there was also
            significantly reduced GBA2 GCase enzyme activity specifically
            within the hippocampus.  Such reductions in GBA2 GCase enzyme could
            contribute to the pathological and behavioural effects seen.
REFERENCE   3  (bases 1 to 3552)
  AUTHORS   Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J,
            Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z,
            Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP.
  TITLE     Mouse screen reveals multiple new genes underlying mouse and human
            hearing loss
  JOURNAL   PLoS Biol 17 (4), e3000194 (2019)
   PUBMED   30973865
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3552)
  AUTHORS   Woeste MA, Stern S, Raju DN, Grahn E, Dittmann D, Gutbrod K,
            Dormann P, Hansen JN, Schonauer S, Marx CE, Hamzeh H, Korschen HG,
            Aerts JMFG, Bonigk W, Endepols H, Sandhoff R, Geyer M, Berger TK,
            Bradke F and Wachten D.
  TITLE     Species-specific differences in nonlysosomal glucosylceramidase
            GBA2 function underlie locomotor dysfunction arising from
            loss-of-function mutations
  JOURNAL   J Biol Chem 294 (11), 3853-3871 (2019)
   PUBMED   30662006
  REMARK    GeneRIF: results shed light on the molecular mechanism underlying
            the pathogenesis of GBA2-related hereditary spastic paraplegia
            (HSP), autosomal-recessive cerebellar ataxia (ARCA) and reveal
            species-specific differences in GBA2 function in vivo
REFERENCE   5  (bases 1 to 3552)
  AUTHORS   von Gerichten J, Schlosser K, Lamprecht D, Morace I, Eckhardt M,
            Wachten D, Jennemann R, Grone HJ, Mack M and Sandhoff R.
  TITLE     Diastereomer-specific quantification of bioactive hexosylceramides
            from bacteria and mammals
  JOURNAL   J Lipid Res 58 (6), 1247-1258 (2017)
   PUBMED   28373486
REFERENCE   6  (bases 1 to 3552)
  AUTHORS   Yildiz Y, Matern H, Thompson B, Allegood JC, Warren RL, Ramirez DM,
            Hammer RE, Hamra FK, Matern S and Russell DW.
  TITLE     Mutation of beta-glucosidase 2 causes glycolipid storage disease
            and impaired male fertility
  JOURNAL   J Clin Invest 116 (11), 2985-2994 (2006)
   PUBMED   17080196
  REMARK    GeneRIF: GBA2 is a glucosylceramidase whose loss causes
            accumulation of glycolipids and an endoplasmic reticulum storage
            disease
REFERENCE   7  (bases 1 to 3552)
  AUTHORS   Lau NC, Seto AG, Kim J, Kuramochi-Miyagawa S, Nakano T, Bartel DP
            and Kingston RE.
  TITLE     Characterization of the piRNA complex from rat testes
  JOURNAL   Science 313 (5785), 363-367 (2006)
   PUBMED   16778019
REFERENCE   8  (bases 1 to 3552)
  AUTHORS   Blackshaw S, Harpavat S, Trimarchi J, Cai L, Huang H, Kuo WP, Weber
            G, Lee K, Fraioli RE, Cho SH, Yung R, Asch E, Ohno-Machado L, Wong
            WH and Cepko CL.
  TITLE     Genomic analysis of mouse retinal development
  JOURNAL   PLoS Biol 2 (9), E247 (2004)
   PUBMED   15226823
REFERENCE   9  (bases 1 to 3552)
  AUTHORS   Okazaki N, F-Kikuno R, Ohara R, Inamoto S, Koseki H, Hiraoka S,
            Saga Y, Seino S, Nishimura M, Kaisho T, Hoshino K, Kitamura H,
            Nagase T, Ohara O and Koga H.
  TITLE     Prediction of the coding sequences of mouse homologues of KIAA
            gene: IV. The complete nucleotide sequences of 500 mouse
            KIAA-homologous cDNAs identified by screening of terminal sequences
            of cDNA clones randomly sampled from size-fractionated libraries
  JOURNAL   DNA Res 11 (3), 205-218 (2004)
   PUBMED   15368895
REFERENCE   10 (bases 1 to 3552)
  AUTHORS   Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng
            EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC,
            Babbitt PC and Ferrin TE.
  TITLE     BayGenomics: a resource of insertional mutations in mouse embryonic
            stem cells
  JOURNAL   Nucleic Acids Res 31 (1), 278-281 (2003)
   PUBMED   12520002
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK158174.1, BB869336.1 and BC056935.1.
            
            [WARNING] On Oct 20, 2023 this sequence was replaced by
            NM_172692.4.
            
            On Jun 18, 2009 this sequence version replaced NM_172692.2.
            
            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 :: BC056935.1, AK173213.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164138, SAMN01164139
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-310               AK158174.1         1-310
            311-311             BB869336.1         334-334
            312-477             AK158174.1         312-477
            478-3552            BC056935.1         1-3075
FEATURES             Location/Qualifiers
     source          1..3552
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="4"
                     /map="4 23.05 cM"
     gene            1..3552
                     /gene="Gba2"
                     /gene_synonym="F630034E04"
                     /note="glucosidase beta 2"
                     /db_xref="GeneID:230101"
                     /db_xref="MGI:MGI:2654325"
     exon            1..849
                     /gene="Gba2"
                     /gene_synonym="F630034E04"
                     /inference="alignment:Splign:2.1.0"
     CDS             518..3274
                     /gene="Gba2"
                     /gene_synonym="F630034E04"
                     /EC_number="3.2.1.45"
                     /EC_number="3.2.1.46"
                     /note="glucosidase, beta (bile acid) 2; NLGase;
                     beta-glucosidase 2; glucosylceramidase 2;
                     beta-glucocerebrosidase 2; bile acid beta-glucosidase
                     GBA2; cholesteryl-beta-glucosidase GBA2; bile acid
                     glucosyl transferase GBA2; cholesterol glucosyltransferase
                     GBA2; non-lysosomal glycosylceramidase; non-lysosomal
                     galactosylceramidase; non-lysosomal cholesterol
                     glycosyltransferase"
                     /codon_start=1
                     /product="non-lysosomal glucosylceramidase"
                     /protein_id="NP_766280.2"
                     /db_xref="CCDS:CCDS18103.1"
                     /db_xref="GeneID:230101"
                     /db_xref="MGI:MGI:2654325"
                     /translation="MVTCVPASEQVGCAERDSQVYCEDTGGTEAVRVTDCGSPEDSGP
                     QDEPSYCNSEDSGQLMASYEGKARGYQVPPFGWRICLAHEFAEKRRPFQANNISLSNL
                     VKHLGMGLRYLKWWYRKTHVEKKTPFIDMLNSLPLRQIYGCPLGGIGGGTITRGWRGQ
                     FCRWQLNPGMYQHQTVIADQFIVCLRRDGRTVYQQVLSLELPNVLRSWNWGLCGYFAF
                     YHALYPRAWTVYQLPGQNVTLTCRQVTPILPHDYQDSSLPVGVFVWDVENEGDETLDV
                     SITFSMRNGLGGEDDAAGSLWNEPFRLEQGGTTVQGLLLHHPTPPNPYTMAVAARCTA
                     DTTVTHTTAFDPNGTGQQVWQDLLQDGQLDSPAGQSTPTQKGEGIAGAVCVSSKLLPR
                     SRCCLEFSLAWDMPKIMFGAKSQVHYRRYTRFFGSDGDVAPALSHYALCHYADWEDRI
                     SAWQNPVLDDRTLPAWYKSALFNELYFLADGGTVWLEVPADSLPEGLGGSMRQLRSTL
                     QDYGRFGYLEGQEYRMYNTYDVHFYASFALVMLWPKLELSLQYDMALATLKEDLTRRR
                     YLMSGVVAPVKRRNVIPHDIGDPDDEPWLRVNAYLIHDTADWKDLNLKFVLQIYRDYY
                     LTGDQGFLEDMWPVCLAVMESEMKFDKDQDGLIENGGYADQTYDAWVTTGPSAYCGGL
                     WLAAVAVMVQMAVLCGAQDVQERFASILCRGREAYERLLWNGRYYNYDSSSHPQSRSI
                     MSDQCAGQWFLRACGLGEGDTEVFPTLHVVRALQTIFELNVQAFAGGAMGAVNGMHPH
                     GVPDRSSVQSDEVWVGVVYGLAATMIQEGLTWEGFRTAEGCYRTVWERLGLAFQTPEA
                     YCQQQVFRSLAYMRPLSIWAMQLALQQQQHKKSRRPSVTQGTGLSTQPECGPKRSLAN
                     LNSE"
     exon            850..941
                     /gene="Gba2"
                     /gene_synonym="F630034E04"
                     /inference="alignment:Splign:2.1.0"
     exon            942..1057
                     /gene="Gba2"
                     /gene_synonym="F630034E04"
                     /inference="alignment:Splign:2.1.0"
     exon            1058..1276
                     /gene="Gba2"
                     /gene_synonym="F630034E04"
                     /inference="alignment:Splign:2.1.0"
     exon            1277..1516
                     /gene="Gba2"
                     /gene_synonym="F630034E04"
                     /inference="alignment:Splign:2.1.0"
     exon            1517..1619
                     /gene="Gba2"
                     /gene_synonym="F630034E04"
                     /inference="alignment:Splign:2.1.0"
     exon            1620..1773
                     /gene="Gba2"
                     /gene_synonym="F630034E04"
                     /inference="alignment:Splign:2.1.0"
     exon            1774..1899
                     /gene="Gba2"
                     /gene_synonym="F630034E04"
                     /inference="alignment:Splign:2.1.0"
     exon            1900..2072
                     /gene="Gba2"
                     /gene_synonym="F630034E04"
                     /inference="alignment:Splign:2.1.0"
     exon            2073..2177
                     /gene="Gba2"
                     /gene_synonym="F630034E04"
                     /inference="alignment:Splign:2.1.0"
     exon            2178..2285
                     /gene="Gba2"
                     /gene_synonym="F630034E04"
                     /inference="alignment:Splign:2.1.0"
     exon            2286..2437
                     /gene="Gba2"
                     /gene_synonym="F630034E04"
                     /inference="alignment:Splign:2.1.0"
     exon            2438..2544
                     /gene="Gba2"
                     /gene_synonym="F630034E04"
                     /inference="alignment:Splign:2.1.0"
     exon            2545..2687
                     /gene="Gba2"
                     /gene_synonym="F630034E04"
                     /inference="alignment:Splign:2.1.0"
     exon            2688..2803
                     /gene="Gba2"
                     /gene_synonym="F630034E04"
                     /inference="alignment:Splign:2.1.0"
     exon            2804..2995
                     /gene="Gba2"
                     /gene_synonym="F630034E04"
                     /inference="alignment:Splign:2.1.0"
     exon            2996..3535
                     /gene="Gba2"
                     /gene_synonym="F630034E04"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gatccggtgg tcccgggtct gcgggtcacc ttcccagcgg tggcacctga gcgtgggcgc
       61 gggggatcct ggctgcaggg acccggtacc cagccctgga gccgctggag ccgcagcccg
      121 gggcggggcc gaaggtcgcc gggagctcct gggcgggtcc cagaggcggt gctttgcggg
      181 caggtaccgc ggcaccgccc ccgtccgtgg agctggtcgg ccctcggccg ggcgtgctaa
      241 tcaccgcggc ccaatgacaa caaggcccaa cccttcccgc ctaggatcta gagacgcgac
      301 ccagggagag gccgtggcga ctttgttgct gtagccgctg ctgcagcagc aggagctctc
      361 tgactttacc cagataccaa cgtcccacgg ctttccccag catcgggccc tcccggactg
      421 cacctaactg caactggcat cagcgttttg aaacgtcaga aacctgtcag agggaaccga
      481 ggccaccggg gtcgtgagga cccaggatcc agtgaacatg gtaacctgcg tcccggcctc
      541 agagcaggtc ggctgtgccg aaagagattc ccaagtttat tgtgaagata ctggcggcac
      601 tgaggctgtg cgggttacag actgcgggag ccccgaggat agtggacccc aggatgaacc
      661 aagctactgc aattcagagg actctgggca gctgatggcc tcctacgagg gtaaagctag
      721 gggctaccag gtgcctcctt ttggctggcg gatctgcttg gctcacgagt ttgcagagaa
      781 gaggagacct tttcaagcta acaacatctc tctcagtaat ttggtaaagc acctcggtat
      841 gggcttgagg tacttgaagt ggtggtaccg aaagacccac gtggaaaaga agaccccttt
      901 catcgacatg ctcaattctc tacccctgag acagatctat ggttgtcccc tgggtggcat
      961 tggaggaggc actatcaccc ggggctggag aggccagttc tgtcgttggc agctcaaccc
     1021 tggaatgtac cagcaccaga cagtcattgc agaccaattt atagtatgct tgcgtcgaga
     1081 tgggcggact gtgtaccagc aagttctgtc cttggagctt ccaaatgtcc tgcgcagctg
     1141 gaactggggc ctgtgtggtt actttgcttt ctaccacgcc ctctatcccc gagcctggac
     1201 ggtctatcag cttcctggcc agaatgtcac cctcacctgt cgccaggtca cacctatctt
     1261 gcctcatgac taccaggaca gcagtctccc tgtaggagtc tttgtgtggg atgtagaaaa
     1321 cgaaggagat gagactctgg acgtttccat cacgttctcc atgcggaatg gactaggagg
     1381 cgaagatgat gcggccggga gtttgtggaa tgagcccttc cgcctggaac agggcgggac
     1441 gactgttcag gggctcctct tgcatcatcc aacccctccg aacccctaca ccatggctgt
     1501 ggctgcacga tgcacggcag ataccacggt aacccacacc acagcctttg accccaatgg
     1561 cactggacag caggtgtggc aggacctact tcaggatgga cagctggact cccctgctgg
     1621 ccaaagcacc ccaacacaga aaggagaggg tatcgctggg gctgtatgcg tctctagcaa
     1681 gctgttacct cgaagccggt gctgcttgga gttctcactg gcttgggata tgcctaagat
     1741 catgtttgga gctaaaagcc aagtccacta caggcggtat acacggttct ttggttcaga
     1801 tggtgatgtg gcgcctgccc tgagccacta tgcactgtgc cactatgcag actgggagga
     1861 cagaatctca gcctggcaga acccagtact ggatgacaga accttgcctg cctggtacaa
     1921 atctgcactg ttcaatgaac tgtacttcct ggccgatgga ggcacagtgt ggctggaagt
     1981 tcccgcagac tccctaccag aggggctggg agggagtatg cgtcagcttc gctctactct
     2041 gcaggactat gggcgatttg gctatcttga aggccaggag taccgcatgt acaacacata
     2101 cgatgtccac ttttatgcgt cctttgccct cgtcatgctg tggcccaaac ttgagctcag
     2161 tcttcagtat gatatggctc tggcaacttt gaaggaggac ctgacccggc gacggtacct
     2221 gatgagtgga gtggtggcac ctgtgaaaag gaggaacgtc atccctcatg acattgggga
     2281 tccggatgat gagccatggc tccgggtcaa cgcatatttg attcatgata ctgctgactg
     2341 gaaggacctg aacctgaagt ttgtattgca aatttatcgg gactattacc tgacgggtga
     2401 tcaaggcttc ctggaggaca tgtggcctgt gtgtctggct gtgatggagt ccgaaatgaa
     2461 gtttgacaag gaccaagatg gactcattga gaatggaggc tacgcagacc agacctatga
     2521 tgcatgggtc accacaggcc ccagtgctta ctgcggaggg ctgtggctgg cggcagtggc
     2581 tgtaatggtt cagatggctg ttctgtgtgg ggcccaagat gtccaggaga ggtttgcttc
     2641 cattctctgc cgaggccgag aagcttatga gagactgctg tggaacggac gctattacaa
     2701 ctacgacagc agctcccatc ctcagtctcg gagcatcatg tctgaccagt gtgctgggca
     2761 gtggttcctg agggcctgcg gcctgggaga aggagacact gaagtatttc ctaccctgca
     2821 tgtggtccgt gctctccaaa ccatctttga actcaacgtc caagcctttg caggaggagc
     2881 catgggggcc gtgaacggga tgcaccctca tggtgtccct gatagatcca gtgtgcagtc
     2941 tgatgaagtc tgggtgggtg tggtctatgg gctggcagcc accatgatcc aagagggcct
     3001 gacttgggaa ggtttccgga cagctgaagg ctgttaccgc actgtatggg aacgcctggg
     3061 cctggctttc cagaccccag aggcatactg ccagcaacaa gtgttccgct ccctggccta
     3121 catgcggcca ctgagcatct gggccatgca gctggccctg caacagcagc agcataaaaa
     3181 gagccgcagg ccatcagtca cacaaggcac gggactaagc acacagcctg aatgtggacc
     3241 aaagagatcg ctggcaaacc tcaattcaga gtgatccctc tgaactgtgg aggcccagcc
     3301 tccacactgg acctcctcct tcctcccaca agtcctgcag ccctgagcca ataggacaat
     3361 cgcgcccctc ttccttccca gctgtgccag taaaaagggg ctgaggaacc acttatttat
     3421 ttcttaccct acccagtcct tccatggatg aagtattcaa ggccagtaaa tgtctccaaa
     3481 tctattcacg gggcaacaga tacatatggg tataaataaa atactcagaa aactaaaaaa
     3541 aaaaaaaaaa aa
//
