LOCUS       NM_001278512            3754 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens adaptor related protein complex 3 subunit beta 2
            (AP3B2), transcript variant 1, mRNA.
ACCESSION   NM_001278512
VERSION     NM_001278512.2
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 3754)
  AUTHORS   Dilber,C., Yucel,G. and Sahin,Y.
  TITLE     Novel homozygous AP3B2 mutations in four individuals with
            developmental and epileptic encephalopathy: A rare clinical entity
  JOURNAL   Clin Neurol Neurosurg 223, 107509 (2022)
   PUBMED   36356440
  REMARK    GeneRIF: Novel homozygous AP3B2 mutations in four individuals with
            developmental and epileptic encephalopathy: A rare clinical entity.
REFERENCE   2  (bases 1 to 3754)
  AUTHORS   Yang,F., Jing,F., Li,Y., Kong,S., Zhang,S., Huo,Y., Huang,X. and
            Yu,S.
  TITLE     Plasma lncRNA LOC338963 and mRNA AP3B2 are upregulated in
            paraneoplastic Lambert-Eaton myasthenic syndrome
  JOURNAL   Muscle Nerve 66 (2), 216-222 (2022)
   PUBMED   35508598
  REMARK    GeneRIF: Plasma lncRNA LOC338963 and mRNA AP3B2 are upregulated in
            paraneoplastic Lambert-Eaton myasthenic syndrome.
REFERENCE   3  (bases 1 to 3754)
  AUTHORS   Ueda,K., Ogawa,S., Matsuda,K., Hasegawa,Y., Nishi,E., Yanagi,K.,
            Kaname,T., Yamamoto,T. and Okamoto,N.
  TITLE     Blended phenotype of combination of HERC2 and AP3B2 deficiency and
            Angelman syndrome caused by paternal isodisomy of chromosome 15
  JOURNAL   Am J Med Genet A 185 (10), 3092-3098 (2021)
   PUBMED   34042275
  REMARK    GeneRIF: Blended phenotype of combination of HERC2 and AP3B2
            deficiency and Angelman syndrome caused by paternal isodisomy of
            chromosome 15.
REFERENCE   4  (bases 1 to 3754)
  AUTHORS   Honorat,J.A., Lopez-Chiriboga,A.S., Kryzer,T.J., Komorowski,L.,
            Scharf,M., Hinson,S.R., Lennon,V.A., Pittock,S.J., Klein,C.J. and
            McKeon,A.
  TITLE     Autoimmune gait disturbance accompanying adaptor protein-3B2-IgG
  JOURNAL   Neurology 93 (10), e954-e963 (2019)
   PUBMED   31371564
  REMARK    GeneRIF: The AP3B2 antigen was identified in sera and cerebrospinal
            fluid of patients with sensory or cerebellar ataxia.
            Erratum:[Neurology. 2019 Oct 1;93(14):647. doi:
            10.1212/WNL.0000000000008232.. PMID: 31467253]
REFERENCE   5  (bases 1 to 3754)
  AUTHORS   Assoum,M., Philippe,C., Isidor,B., Perrin,L., Makrythanasis,P.,
            Sondheimer,N., Paris,C., Douglas,J., Lesca,G., Antonarakis,S.,
            Hamamy,H., Jouan,T., Duffourd,Y., Auvin,S., Saunier,A., Begtrup,A.,
            Nowak,C., Chatron,N., Ville,D., Mireskandari,K., Milani,P.,
            Jonveaux,P., Lemeur,G., Milh,M., Amamoto,M., Kato,M., Nakashima,M.,
            Miyake,N., Matsumoto,N., Masri,A., Thauvin-Robinet,C.,
            Riviere,J.B., Faivre,L. and Thevenon,J.
  TITLE     Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein
            Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic
            Encephalopathy with Optic Atrophy
  JOURNAL   Am J Hum Genet 99 (6), 1368-1376 (2016)
   PUBMED   27889060
  REMARK    GeneRIF: Autosomal-Recessive Mutations in AP3B2, Adaptor-Related
            Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic
            Encephalopathy with Optic Atrophy.
REFERENCE   6  (bases 1 to 3754)
  AUTHORS   Dell'Angelica,E.C., Klumperman,J., Stoorvogel,W. and
            Bonifacino,J.S.
  TITLE     Association of the AP-3 adaptor complex with clathrin
  JOURNAL   Science 280 (5362), 431-434 (1998)
   PUBMED   9545220
REFERENCE   7  (bases 1 to 3754)
  AUTHORS   Simpson,F., Peden,A.A., Christopoulou,L. and Robinson,M.S.
  TITLE     Characterization of the adaptor-related protein complex, AP-3
  JOURNAL   J Cell Biol 137 (4), 835-845 (1997)
   PUBMED   9151686
REFERENCE   8  (bases 1 to 3754)
  AUTHORS   Dell'Angelica,E.C., Ohno,H., Ooi,C.E., Rabinovich,E., Roche,K.W.
            and Bonifacino,J.S.
  TITLE     AP-3: an adaptor-like protein complex with ubiquitous expression
  JOURNAL   EMBO J 16 (5), 917-928 (1997)
   PUBMED   9118953
REFERENCE   9  (bases 1 to 3754)
  AUTHORS   Newman,L.S., McKeever,M.O., Okano,H.J. and Darnell,R.B.
  TITLE     Beta-NAP, a cerebellar degeneration antigen, is a neuron-specific
            vesicle coat protein
  JOURNAL   Cell 82 (5), 773-783 (1995)
   PUBMED   7671305
REFERENCE   10 (bases 1 to 3754)
  AUTHORS   Darnell,R.B., Furneaux,H.M. and Posner,J.B.
  TITLE     Antiserum from a patient with cerebellar degeneration identifies a
            novel protein in Purkinje cells, cortical neurons, and
            neuroectodermal tumors
  JOURNAL   J Neurosci 11 (5), 1224-1230 (1991)
   PUBMED   1851215
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ777385.1, BC143346.1 and
            AF022152.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Apr 22, 2019 this sequence version replaced NM_001278512.1.
            
            Summary: Adaptor protein complex 3 (AP-3 complex) is a
            heterotrimeric protein complex involved in the formation of
            clathrin-coated synaptic vesicles. The protein encoded by this gene
            represents the beta subunit of the neuron-specific AP-3 complex and
            was first identified as the target antigen in human paraneoplastic
            neurologic disorders. The encoded subunit binds clathrin and is
            phosphorylated by a casein kinase-like protein, which mediates
            synaptic vesicle coat assembly. Defects in this gene are a cause of
            early-onset epileptic encephalopathy. [provided by RefSeq, Feb
            2017].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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 :: BC143346.1, SRR1803614.23017.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000535359.6/ ENSP00000440984.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-96                BQ777385.1         43-138
            97-3498             BC143346.1         1-3402
            3499-3754           AF022152.1         3304-3559
FEATURES             Location/Qualifiers
     source          1..3754
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.2"
     gene            1..3754
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /note="adaptor related protein complex 3 subunit beta 2"
                     /db_xref="GeneID:8120"
                     /db_xref="HGNC:HGNC:567"
                     /db_xref="MIM:602166"
     exon            1..282
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /inference="alignment:Splign:2.1.0"
     CDS             170..3475
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Neuronal adaptin-like protein, beta-subunit; AP-3 complex
                     subunit beta-2; beta-3B-adaptin; adaptor protein complex
                     AP-3 subunit beta-2; neuron-specific vesicle coat protein
                     beta-NAP; clathrin assembly protein complex 3 beta-2 large
                     chain; adaptor related protein complex 3 beta 2 subunit"
                     /codon_start=1
                     /product="AP-3 complex subunit beta-2 isoform 1"
                     /protein_id="NP_001265441.1"
                     /db_xref="CCDS:CCDS61737.1"
                     /db_xref="GeneID:8120"
                     /db_xref="HGNC:HGNC:567"
                     /db_xref="MIM:602166"
                     /translation="MSAAPAYSEDKGGSAGPGEPEYGHDPASGGIFSSDYKRHDDLKE
                     MLDTNKDSLKLEAMKRIVAMIARGKNASDLFPAVVKNVACKNIEVKKLVYVYLVRYAE
                     EQQDLALLSISTFQRGLKDPNQLIRASALRVLSSIRVPIIVPIMMLAIKEAASDMSPY
                     VRKTAAHAIPKLYSLDSDQKDQLIEVIEKLLADKTTLVAGSVVMAFEEVCPERIDLIH
                     KNYRKLCNLLIDVEEWGQVVIISMLTRYARTQFLSPTQNESLLEENAEKAFYGSEEDE
                     AKGAGSEETAAAAAPSRKPYVMDPDHRLLLRNTKPLLQSRSAAVVMAVAQLYFHLAPK
                     AEVGVIAKALVRLLRSHSEVQYVVLQNVATMSIKRRGMFEPYLKSFYIRSTDPTQIKI
                     LKLEVLTNLANETNIPTVLREFQTYIRSMDKDFVAATIQAIGRCATNIGRVRDTCLNG
                     LVQLLSNRDELVVAESVVVIKKLLQMQPAQHGEIIKHLAKLTDNIQVPMARASILWLI
                     GEYCEHVPRIAPDVLRKMAKSFTAEEDIVKLQVINLAAKLYLTNSKQTKLLTQYVLSL
                     AKYDQNYDIRDRARFTRQLIVPSEQGGALSRHAKKLFLAPKPAPVLESSFKDRDHFQL
                     GSLSHLLNAKATGYQELPDWPEEAPDPSVRNVEEEDLSLIETHVGLLGEYTEVPEWTK
                     CSNREKRKEKEKPFYSDSEGESGPTESADSDPESESESDSKSSSESGSGESSSESDNE
                     DQDEDEEKGRGSESEQSEEDGKRKTKKKVPERKGEASSSDEGSDSSSSSSESEMTSES
                     EEEQLEPASWSRKTPPSSKSAPATKEISLLDLEDFTPPSVQPVSPPAIVSTSLAADLE
                     GLTLTDSTLVPSLLSPVSGVGRQELLHRVAGEGLAVDYTFSRQPFSGDPHMVSVHIHF
                     SNSSDTPIKGLHVGTPKLPAGISIQEFPEIESLAPGESATAVMGINFCDSTQAANFQL
                     CTQTRQFYVSIQPPVGELMAPVFMSENEFKKEQGKLMGMNEITEKLMLPDTCRSDHIV
                     VQKVTATANLGRVPCGTSDEYRFAGRTLTGGSLVLLTLDARPAGAAQLTVNSEKMVIG
                     TMLVKDVIQALTQ"
     exon            283..358
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /inference="alignment:Splign:2.1.0"
     exon            359..433
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /inference="alignment:Splign:2.1.0"
     exon            434..529
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /inference="alignment:Splign:2.1.0"
     exon            530..690
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /inference="alignment:Splign:2.1.0"
     exon            691..757
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /inference="alignment:Splign:2.1.0"
     exon            758..940
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /inference="alignment:Splign:2.1.0"
     exon            941..1224
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /inference="alignment:Splign:2.1.0"
     exon            1225..1279
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /inference="alignment:Splign:2.1.0"
     exon            1280..1351
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /inference="alignment:Splign:2.1.0"
     exon            1352..1414
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /inference="alignment:Splign:2.1.0"
     exon            1415..1547
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /inference="alignment:Splign:2.1.0"
     exon            1548..1657
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /inference="alignment:Splign:2.1.0"
     exon            1658..1834
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /inference="alignment:Splign:2.1.0"
     exon            1835..2021
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /inference="alignment:Splign:2.1.0"
     exon            2022..2140
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /inference="alignment:Splign:2.1.0"
     exon            2141..2197
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /inference="alignment:Splign:2.1.0"
     exon            2198..2306
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /inference="alignment:Splign:2.1.0"
     exon            2307..2430
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /inference="alignment:Splign:2.1.0"
     exon            2431..2605
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /inference="alignment:Splign:2.1.0"
     exon            2606..2666
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /inference="alignment:Splign:2.1.0"
     exon            2667..2773
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /inference="alignment:Splign:2.1.0"
     exon            2774..3002
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /inference="alignment:Splign:2.1.0"
     exon            3003..3087
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /inference="alignment:Splign:2.1.0"
     exon            3088..3185
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /inference="alignment:Splign:2.1.0"
     exon            3186..3324
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /inference="alignment:Splign:2.1.0"
     exon            3325..3754
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3735..3740
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /note="hexamer: AATAAA"
     polyA_site      3754
                     /gene="AP3B2"
                     /gene_synonym="DEE48; EIEE48; NAPTB"
                     /note="major polyA site"
ORIGIN      
        1 gagaaatccg cgcgcagcct ccgccgctgc acactgcagc ctctgctgaa cccctgccgc
       61 gccgccgcct tcgccagccc ggaccggacc ggcccgcctt cccttcctcc gctccagccg
      121 gcctccggcc ccgcaacctc ctcctcggcg aagtctccct ggccgcccca tgtcggccgc
      181 ccccgcctac agcgaagaca agggcggctc cgctggcccc ggggagcccg agtacggcca
      241 cgaccccgcg agcggcggca tcttctcctc cgactacaag cggcatgatg acctgaagga
      301 gatgctggac accaacaagg attctctcaa gctggaggcc atgaagagga ttgtggcgat
      361 gattgcccga ggaaagaatg cttcagacct gtttcccgcg gtggtgaaga acgtggcctg
      421 taagaacata gaggtgaaga agcttgtcta tgtgtacctg gtacgctacg ctgaggagca
      481 gcaagacctg gccctgctgt ccatctccac cttccaacgt ggcctaaagg atcccaacca
      541 gctgattcgt gccagtgccc tccgtgtcct ctctagcatc cgtgtgccca tcatagtgcc
      601 catcatgatg ctagctatca aggaagccgc ctcggacatg tcaccctatg tgcggaaaac
      661 agctgcccac gccatcccta aactctacag tttggactct gaccagaagg atcagctgat
      721 agaagtcatt gagaagcttc tggctgacaa gaccacgctg gtggcgggca gtgtggtgat
      781 ggcctttgag gaggtctgcc cggagcgcat cgacctgatt cacaaaaact accggaaact
      841 ctgtaacctg ctgatcgacg tggaggagtg gggccaggtg gtcatcatca gcatgctcac
      901 ccgctacgcc cgcacgcagt tcctgagccc cacccagaac gaatccctac tagaggagaa
      961 cgcggaaaaa gccttctacg gctcagagga ggacgaggcc aagggcgcgg ggtctgagga
     1021 gacggccgcc gcggccgccc cctcccgaaa gccctatgtc atggaccccg accaccggct
     1081 gctgctgcgc aacaccaaac ccctgctgca gagccgcagc gccgcggtgg tgatggcggt
     1141 ggcgcagctc tacttccacc tggcgcccaa ggcggaagtg ggcgtcatcg ccaaggcgct
     1201 ggtgcgcctg ctgcgcagcc acagtgaggt gcagtacgtt gtgctccaga acgtggccac
     1261 catgtccatc aagcgccggg gtatgtttga gccctacctg aagagcttct acatcaggtc
     1321 caccgacccc acccagatta agatcctgaa gctggaagtg ctgaccaacc tggccaatga
     1381 gaccaacatt cctactgtcc tacgggaatt ccagacctat attcgcagca tggacaagga
     1441 ctttgtggca gccacaatcc aggccattgg acgctgtgca actaacatcg gccgagtccg
     1501 tgacacctgc ctcaatggcc tggtgcagct gctgtccaac cgtgatgagc ttgtggttgc
     1561 agagtcagtg gtcgtcatta agaaattgct acagatgcag ccagcacaac atggagagat
     1621 catcaaacac ttggcaaagc ttacagacaa catccaggtg cccatggccc gagccagcat
     1681 cctgtggctc atcggagagt actgtgagca tgtccccagg attgcacctg atgtcttaag
     1741 aaaaatggcc aagtcattca cagcagagga ggatattgtc aagctgcagg tcatcaacct
     1801 ggcagccaag ctctacctga ccaactctaa acagaccaag ctgctgaccc agtatgtgct
     1861 gagtctggcc aaatatgacc agaactatga tattcgcgac cgggcgcgct tcacccggca
     1921 gctcatcgtc ccttccgagc agggtggggc cctcagccgc catgccaaga agctcttcct
     1981 ggcacccaaa ccagctccag tcttggagtc atccttcaaa gaccgggacc acttccagct
     2041 gggctcactg tcccacctgc ttaatgccaa ggccacaggc taccaggagc tcccagactg
     2101 gccggaggaa gccccagacc catctgtgcg caacgtggag gaagaagatc tctcccttat
     2161 tgagactcac gtgggcctgt tgggcgaata cactgaggta cctgaatgga ccaagtgctc
     2221 aaatcgggag aagagaaagg agaaggaaaa acccttctac tcggactctg agggggagtc
     2281 aggccccacg gagtccgcag acagtgaccc tgagtctgag agtgaatcgg acagtaagag
     2341 cagcagtgag agcggctctg gggagtccag cagtgagtcc gacaatgaag accaggatga
     2401 ggatgaggag aaagggagag gcagtgagag tgaacagagt gaggaggatg gtaagaggaa
     2461 gacaaagaag aaggtgccag agagaaaagg agaagcgtca tcctctgatg agggcagcga
     2521 ttccagcagt agctcatcag agtccgagat gacatcggag tccgaggagg agcagttaga
     2581 acctgcctcc tggagcagga aaacacctcc cagcagcaaa agtgctcctg caaccaagga
     2641 gatctccctg cttgatctag aggatttcac ccctcccagt gtccagcctg tgtctccccc
     2701 agcaattgtg tctaccagtc tggctgctga cctggagggc ctgacactca cagactccac
     2761 cctggtaccg tcgcttctga gtccagtatc gggtgttggg cggcaggagc tgctgcaccg
     2821 ggtagctggc gaggggctgg ctgtggacta caccttcagc cgccaacctt tctccgggga
     2881 tccccacatg gtgtccgtgc acatccactt ctccaacagc tctgataccc ccatcaaggg
     2941 cctgcatgtg ggcactccca aactgcctgc tggcatcagc atccaagaat ttcccgaaat
     3001 tgagtccctg gcacctggag aatctgccac tgctgtaatg ggcattaatt tctgtgactc
     3061 aacccaggca gccaacttcc agctgtgcac ccagacccga cagttctacg tctccattca
     3121 gccacctgtt ggggagctga tggcccctgt gttcatgagt gaaaatgagt ttaagaagga
     3181 acagggaaag ctgatgggca tgaatgagat cacagagaaa ctcatgctgc cagacacctg
     3241 tcggagtgac cacattgtgg tgcagaaagt gactgccact gccaacctgg gtcgtgttcc
     3301 ttgtgggaca tctgatgagt acaggtttgc agggaggaca ctgactggtg gaagcctcgt
     3361 tctgctgacc ctggatgccc ggccagctgg agctgcccag ctgactgtca acagcgagaa
     3421 aatggtgatt ggcaccatgc tggtaaagga tgtgatacag gctctgaccc agtgacttcc
     3481 aaatgctgtg acctgtttgg ctcccatcta tacctcccca tgacacctag gctgtcagtc
     3541 tctctcatct ttctctctct ctctcatcat cctcctcatg ccagatagca ttcagggtgt
     3601 cctctctccc tctggaggac caagccctcc cctaatgccc tccccatgga ttccttagtg
     3661 atctgtgcag agagagatgg cagccactcc cttcagtcct cccagatttc tgtagctatt
     3721 tatgtagcag gctcaataaa atgtcttctc tcta
//
