LOCUS       NM_023002               4342 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens hyaluronan and proteoglycan link protein 4 (HAPLN4),
            mRNA.
ACCESSION   NM_023002
VERSION     NM_023002.3
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 4342)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   2  (bases 1 to 4342)
  AUTHORS   Ripke,S., O'Dushlaine,C., Chambert,K., Moran,J.L., Kahler,A.K.,
            Akterin,S., Bergen,S.E., Collins,A.L., Crowley,J.J., Fromer,M.,
            Kim,Y., Lee,S.H., Magnusson,P.K., Sanchez,N., Stahl,E.A.,
            Williams,S., Wray,N.R., Xia,K., Bettella,F., Borglum,A.D.,
            Bulik-Sullivan,B.K., Cormican,P., Craddock,N., de Leeuw,C.,
            Durmishi,N., Gill,M., Golimbet,V., Hamshere,M.L., Holmans,P.,
            Hougaard,D.M., Kendler,K.S., Lin,K., Morris,D.W., Mors,O.,
            Mortensen,P.B., Neale,B.M., O'Neill,F.A., Owen,M.J.,
            Milovancevic,M.P., Posthuma,D., Powell,J., Richards,A.L.,
            Riley,B.P., Ruderfer,D., Rujescu,D., Sigurdsson,E., Silagadze,T.,
            Smit,A.B., Stefansson,H., Steinberg,S., Suvisaari,J., Tosato,S.,
            Verhage,M., Walters,J.T., Levinson,D.F., Gejman,P.V., Kendler,K.S.,
            Laurent,C., Mowry,B.J., O'Donovan,M.C., Owen,M.J., Pulver,A.E.,
            Riley,B.P., Schwab,S.G., Wildenauer,D.B., Dudbridge,F., Holmans,P.,
            Shi,J., Albus,M., Alexander,M., Campion,D., Cohen,D., Dikeos,D.,
            Duan,J., Eichhammer,P., Godard,S., Hansen,M., Lerer,F.B.,
            Liang,K.Y., Maier,W., Mallet,J., Nertney,D.A., Nestadt,G.,
            Norton,N., O'Neill,F.A., Papadimitriou,G.N., Ribble,R.,
            Sanders,A.R., Silverman,J.M., Walsh,D., Williams,N.M., Wormley,B.,
            Arranz,M.J., Bakker,S., Bender,S., Bramon,E., Collier,D.,
            Crespo-Facorro,B., Hall,J., Iyegbe,C., Jablensky,A., Kahn,R.S.,
            Kalaydjieva,L., Lawrie,S., Lewis,C.M., Lin,K., Linszen,D.H.,
            Mata,I., McIntosh,A., Murray,R.M., Ophoff,R.A., Powell,J.,
            Rujescu,D., Van Os,J., Walshe,M., Weisbrod,M., Wiersma,D.,
            Donnelly,P., Barroso,I., Blackwell,J.M., Bramon,E., Brown,M.A.,
            Casas,J.P., Corvin,A.P., Deloukas,P., Duncanson,A., Jankowski,J.,
            Markus,H.S., Mathew,C.G., Palmer,C.N., Plomin,R., Rautanen,A.,
            Sawcer,S.J., Trembath,R.C., Viswanathan,A.C., Wood,N.W.,
            Spencer,C.C., Band,G., Bellenguez,C., Freeman,C., Hellenthal,G.,
            Giannoulatou,E., Pirinen,M., Pearson,R.D., Strange,A., Su,Z.,
            Vukcevic,D., Donnelly,P., Langford,C., Hunt,S.E., Edkins,S.,
            Gwilliam,R., Blackburn,H., Bumpstead,S.J., Dronov,S., Gillman,M.,
            Gray,E., Hammond,N., Jayakumar,A., McCann,O.T., Liddle,J.,
            Potter,S.C., Ravindrarajah,R., Ricketts,M.,
            Tashakkori-Ghanbaria,A., Waller,M.J., Weston,P., Widaa,S.,
            Whittaker,P., Barroso,I., Deloukas,P., Mathew,C.G., Blackwell,J.M.,
            Brown,M.A., Corvin,A.P., McCarthy,M.I., Spencer,C.C., Bramon,E.,
            Corvin,A.P., O'Donovan,M.C., Stefansson,K., Scolnick,E.,
            Purcell,S., McCarroll,S.A., Sklar,P., Hultman,C.M. and
            Sullivan,P.F.
  CONSRTM   Multicenter Genetic Studies of Schizophrenia Consortium; Psychosis
            Endophenotypes International Consortium; Wellcome Trust Case
            Control Consortium 2
  TITLE     Genome-wide association analysis identifies 13 new risk loci for
            schizophrenia
  JOURNAL   Nat Genet 45 (10), 1150-1159 (2013)
   PUBMED   23974872
REFERENCE   3  (bases 1 to 4342)
  AUTHORS   Kahler,A.K., Djurovic,S., Rimol,L.M., Brown,A.A., Athanasiu,L.,
            Jonsson,E.G., Hansen,T., Gustafsson,O., Hall,H., Giegling,I.,
            Muglia,P., Cichon,S., Rietschel,M., Pietilainen,O.P., Peltonen,L.,
            Bramon,E., Collier,D., St Clair,D., Sigurdsson,E., Petursson,H.,
            Rujescu,D., Melle,I., Werge,T., Steen,V.M., Dale,A.M.,
            Matthews,R.T., Agartz,I. and Andreassen,O.A.
  TITLE     Candidate gene analysis of the human natural killer-1 carbohydrate
            pathway and perineuronal nets in schizophrenia: B3GAT2 is
            associated with disease risk and cortical surface area
  JOURNAL   Biol Psychiatry 69 (1), 90-96 (2011)
   PUBMED   20950796
  REMARK    GeneRIF: Observational study and meta-analysis of gene-disease
            association. (HuGE Navigator)
REFERENCE   4  (bases 1 to 4342)
  AUTHORS   Sim,H., Hu,B. and Viapiano,M.S.
  TITLE     Reduced expression of the hyaluronan and proteoglycan link proteins
            in malignant gliomas
  JOURNAL   J Biol Chem 284 (39), 26547-26556 (2009)
   PUBMED   19633295
  REMARK    GeneRIF: Results indicate that HAPLN4 and HAPLN2 are the
            predominant members of this family in the adult human brain but are
            strongly reduced in the tumor parenchyma.
REFERENCE   5  (bases 1 to 4342)
  AUTHORS   Bekku,Y., Su,W.D., Hirakawa,S., Fassler,R., Ohtsuka,A., Kang,J.S.,
            Sanders,J., Murakami,T., Ninomiya,Y. and Oohashi,T.
  TITLE     Molecular cloning of Bral2, a novel brain-specific link protein,
            and immunohistochemical colocalization with brevican in
            perineuronal nets
  JOURNAL   Mol Cell Neurosci 24 (1), 148-159 (2003)
   PUBMED   14550776
REFERENCE   6  (bases 1 to 4342)
  AUTHORS   Spicer,A.P., Joo,A. and Bowling,R.A. Jr.
  TITLE     A hyaluronan binding link protein gene family whose members are
            physically linked adjacent to chondroitin sulfate proteoglycan core
            protein genes: the missing links
  JOURNAL   J Biol Chem 278 (23), 21083-21091 (2003)
   PUBMED   12663660
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC138430.2, BC142698.1 and BC142644.1.
            
            On Nov 23, 2018 this sequence version replaced NM_023002.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC142698.1, AY262756.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153733, SAMEA2153932
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000291481.8/ ENSP00000291481.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                AC138430.2         2722-2738
            18-2790             BC142698.1         10-2782
            2791-3457           BC142644.1         2774-3440
            3458-4342           AC138430.2         9886-10770
FEATURES             Location/Qualifiers
     source          1..4342
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..4342
                     /gene="HAPLN4"
                     /gene_synonym="BRAL2"
                     /note="hyaluronan and proteoglycan link protein 4"
                     /db_xref="GeneID:404037"
                     /db_xref="HGNC:HGNC:31357"
                     /db_xref="MIM:619710"
     exon            1..75
                     /gene="HAPLN4"
                     /gene_synonym="BRAL2"
                     /inference="alignment:Splign:2.1.0"
     CDS             73..1281
                     /gene="HAPLN4"
                     /gene_synonym="BRAL2"
                     /note="brain link protein 2"
                     /codon_start=1
                     /product="hyaluronan and proteoglycan link protein 4
                     precursor"
                     /protein_id="NP_075378.1"
                     /db_xref="CCDS:CCDS12398.1"
                     /db_xref="GeneID:404037"
                     /db_xref="HGNC:HGNC:31357"
                     /db_xref="MIM:619710"
                     /translation="MVCARAALGPGALWAAAWGVLLLTAPAGAQRGRKKVVHVLEGES
                     GSVVVQTAPGQVVSHRGGTIVLPCRYHYEAAAHGHDGVRLKWTKVVDPLAFTDVFVAL
                     GPQHRAFGSYRGRAELQGDGPGDASLVLRNVTLQDYGRYECEVTNELEDDAGMVKLDL
                     EGVVFPYHPRGGRYKLTFAEAQRACAEQDGILASAEQLHAAWRDGLDWCNAGWLRDGS
                     VQYPVNRPREPCGGLGGTGSAGGGGDANGGLRNYGYRHNAEERYDAFCFTSNLPGRVF
                     FLKPLRPVPFSGAARACAARGAAVAKVGQLFAAWKLQLLDRCTAGWLADGSARYPIVN
                     PRARCGGRRPGVRSLGFPDATRRLFGVYCYRAPGAPDPAPGGWGWGWAGGGGWAGGAR
                     DPAAWTPLHV"
     exon            76..193
                     /gene="HAPLN4"
                     /gene_synonym="BRAL2"
                     /inference="alignment:Splign:2.1.0"
     exon            194..556
                     /gene="HAPLN4"
                     /gene_synonym="BRAL2"
                     /inference="alignment:Splign:2.1.0"
     exon            557..889
                     /gene="HAPLN4"
                     /gene_synonym="BRAL2"
                     /inference="alignment:Splign:2.1.0"
     exon            890..4342
                     /gene="HAPLN4"
                     /gene_synonym="BRAL2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3424..3429
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HAPLN4"
                     /gene_synonym="BRAL2"
                     /note="hexamer: AATAAA"
     polyA_site      3457
                     /gene="HAPLN4"
                     /gene_synonym="BRAL2"
                     /note="major polyA site"
     regulatory      4322..4327
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HAPLN4"
                     /gene_synonym="BRAL2"
                     /note="hexamer: AATAAA"
     polyA_site      4342
                     /gene="HAPLN4"
                     /gene_synonym="BRAL2"
ORIGIN      
        1 agtcttaacc gggtgtgcgg ggagcgcagt ccgggtgcgt aggggccgct cggcgggggc
       61 cgcgcgggca agatggtgtg cgctcgggcg gccctcggtc ccggcgcgct ctgggccgcg
      121 gcctggggcg tcctgctgct cacagcccct gcgggggcgc agcgtggccg gaagaaggtc
      181 gtgcacgtgc tggagggtga gtcgggctcg gtagtggtac agacagcgcc tgggcaggtg
      241 gtaagccacc gtggtggcac catcgtcttg ccctgccgct accactatga ggcagccgcc
      301 cacggtcacg acggcgtccg gctcaagtgg acaaaggtgg tggacccgct ggccttcacc
      361 gacgtcttcg tggcactagg cccccagcac cgggcattcg gcagctaccg tgggcgggct
      421 gagctgcagg gcgacgggcc tggggatgcc tccctggtcc tccgcaacgt cacgctgcaa
      481 gactacgggc gctatgagtg cgaagtcacc aatgagctgg aagatgacgc tggcatggtc
      541 aagctggacc tggaaggcgt ggtctttccc taccaccccc gtggaggccg atacaagctg
      601 accttcgcgg aggcgcagcg cgcgtgcgcc gagcaggacg gcatcctggc atctgcagaa
      661 cagctgcacg cggcctggcg cgacggcctg gactggtgca acgcgggctg gttgcgcgac
      721 ggctcagtgc aataccccgt gaaccggccc cgggagccct gcggcggcct gggggggacc
      781 gggagtgcag ggggcggcgg tgatgccaac gggggcctgc gcaactacgg gtatcgccat
      841 aacgccgagg aacgctacga cgccttctgc ttcacgtcca acctgccggg gcgcgtgttc
      901 ttcctgaagc cgctgcgacc tgtacccttc tccggagctg cgcgcgcgtg tgctgcgcgt
      961 ggcgcggccg tggccaaggt ggggcagctg ttcgccgcgt ggaagctgca gctgctagac
     1021 cgctgcaccg cgggttggct ggccgatggc agtgcgcgct accccatcgt gaacccgcga
     1081 gcgcgctgcg gaggccgcag gcctggtgtg cgcagcctcg gcttcccgga cgccacccga
     1141 cggctcttcg gcgtctactg ctaccgcgct ccaggagcac cggacccggc acctggcggc
     1201 tggggctggg gctgggcggg cggcggcggc tgggcagggg gcgcgcgcga tcctgctgcc
     1261 tggacccctc tgcacgtcta ggctgggagt aggcggacag ccagggcgct tgaccactgg
     1321 tctagagccc tgtggtcccc tggagcctgg ccacgccctt gaagccctgg acactggcca
     1381 cattccctgt ggtcccttac aaactaactg tgcccctggg gtccctgaag actggctagt
     1441 cctggcagaa cagtactttg gagttccctg gagcctggcc agccctcacc tcttctggat
     1501 agaggattcc cccaactccc caactttctc catgagggtc acgccccctg aggacctcag
     1561 gaggccagca gaacccgcag gctcctgaag actggccacg cctcctgaga ccacttggaa
     1621 acagaccaac tgcccccgtg gtcgcctggt ggctggaccc ccgggattga ctagagaccg
     1681 gccgtacacc ttctgcatct cactggagac tgaacactag tcccttgcgg tcacgtggga
     1741 cactgggcgc ctcctcctcc ccctcctcct cacctggaga gactacagga acttcagggt
     1801 cactccccgt ggtcacatgg aggttgtggg ccgaggcgct tattttccct tatggtgacc
     1861 tgagtcctgg agactcccat tctccccctc tccctgagag tcccctgcag tttctgggta
     1921 acagggcaca cccctctagt ttcatgggcg agcaccccca tctgccacct cagactgaca
     1981 cacagccagc tggctcactt actgggggcc acgtcccacc cctcagatat ttctttgaag
     2041 ggagagcaaa cccaccctgt cctctgacgt ccctttccca actgtcacca aacagaccat
     2101 cttcccaggc ctggggaccg gtaagatcca tgtcactagt tatgcagagc agttgccttg
     2161 ggtcccactg tcaccaaggc aaccagtcct gctgctacct gtcacctaga gtcacacacc
     2221 ccttccctca tcaggcacac ccatgaagac agtgcctccc tcctccagct gtaaccatgg
     2281 ataccacaca tttctcatct cattggcccc caccccagag acctccacct caacttctgg
     2341 ctgtccctac cctgactcac cgccatggag atcaccctcc ccgaagctgt cgccagggtg
     2401 acccaacatc cagttctccg gctctcacca tggaaacaaa ctgtccctgt ccccaggccc
     2461 actccagttc cagaccaccc tccatgctcc acccccaggc ggtttggacc ccaccactgt
     2521 tgccatggtg accaaactct ggagtccgag gtaacagaac acctgtcccc ctaggctttt
     2581 ccttgtggac aacggggccc tgttcaccaa gctgttgcca tagagactgt caacgttgtc
     2641 ctcatgacaa ccagacttcc agttctcagg aacttctcat tgtgggccag aagtcctggg
     2701 tgcctcctac tagggctacc ctactgcacc ccatcagggg cctgatggct gccccttccc
     2761 cagacagggc tggacttctg gagctgctaa gccaccctcc gtttgcacgt taactctatg
     2821 ccggatagca gctgtgcacg agacaatctt gcaacacccg ggcatgtttg tcgtcgtcct
     2881 acaaatgagg aaaccgagcc tatggcgtgc cctggtctgt tgagatatgc aagcactgag
     2941 ctcctctttt gtcctctgag accccatctc cattctcacc cagttcctct ctccttccct
     3001 gacccccacc cacatttccc tccttagaga tccaggaggg atggaatgtt ctttaaaatt
     3061 caacacccac caggctctaa gcggcgatct gtgctaagag gtcaggaccc agccgaagtc
     3121 ctcggcgttg acaggcagct ggggggacat gatccatgga caaggccatc ccggccgtgg
     3181 gagaccccag tcccgaagtc ttgcctgcag gagtactggg gtccccctgg ggccctcttt
     3241 actgtcacgt catctctagg aaacctatct ctgagttttg ggaccaggtc ggtttgggtt
     3301 tgaattctgc ctcttcttgc tcactgtgtg accaagtgac aaactccttc tgaacctgtg
     3361 ttctcccact gtaccagggc tgttctgtgg tccccgtgag tgccaagcat acagtagggg
     3421 ctcaataaat ccttgtttct tttgatgaat gagaaaatga ggcagccagt gggtaattcc
     3481 tgtataaatg cactttggta gataagatgt tacaagcttg gggggcttgg ggtttttttt
     3541 gttttgtttt tttgagatgg agtcctgccc tgtcgcccag gctggagtgc agtcgtgcaa
     3601 tcttggctca ctgcaacctc tgcctcccgg gttcaagtga ttctcctgcc tcagcctccc
     3661 gagtagctgg gattacaggt gcctgccacc acacccggct aatttttgta tttttagtag
     3721 agacagggtt tcaccatgtt ggccaggctg gtcttgaact cctgacctca ggtgatctac
     3781 ccacctcggc ctcccaaagt gttggggtta caggtgtgag ccactgcgcc tggccgggct
     3841 tgatttttat tctctttgga agtggggtcc ttcattcctc ccccacctcc ccaatctctt
     3901 gctcctcttt cttcccccat cctgtgccca ctgtctccct ttagccaccc accatgggtc
     3961 tgctccttgt caactctgtc ctgactgggt cattgacaag atccagggca tgaaattcgg
     4021 gaaactggaa ggggggttcc tgtaccagga agggagagac attacaaact ttccctgaca
     4081 tgaatatgtg ggctgagggc aggggctgag gaagcactgg aagtttctag gatacaacaa
     4141 agcatgaaga gaaaaaatag tgtaaggtcc tgaccgtgca cagtggatca tgcctataat
     4201 cccagcactt taagagacca aggtgggagg attgcttgag ccagaaggtc gaggctgcag
     4261 tgagccatga ttgtaccact gcactccagc ttgggcgacg gagtgagacc ctgtctcaaa
     4321 aaataaaaat aagtaaatct cc
//
