LOCUS       NM_198475               3138 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens family with sequence similarity 171 member A2
            (FAM171A2), mRNA.
ACCESSION   NM_198475 XM_001715615 XM_001717269 XM_208993
VERSION     NM_198475.3
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 3138)
  AUTHORS   Xu,W., Han,S.D., Zhang,C., Li,J.Q., Wang,Y.J., Tan,C.C., Li,H.Q.,
            Dong,Q., Mei,C., Tan,L. and Yu,J.T.
  TITLE     The FAM171A2 gene is a key regulator of progranulin expression and
            modifies the risk of multiple neurodegenerative diseases
  JOURNAL   Sci Adv 6 (43) (2020)
   PUBMED   33087363
  REMARK    GeneRIF: The FAM171A2 gene is a key regulator of progranulin
            expression and modifies the risk of multiple neurodegenerative
            diseases.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3138)
  AUTHORS   Gieger,C., Radhakrishnan,A., Cvejic,A., Tang,W., Porcu,E.,
            Pistis,G., Serbanovic-Canic,J., Elling,U., Goodall,A.H.,
            Labrune,Y., Lopez,L.M., Magi,R., Meacham,S., Okada,Y., Pirastu,N.,
            Sorice,R., Teumer,A., Voss,K., Zhang,W., Ramirez-Solis,R.,
            Bis,J.C., Ellinghaus,D., Gogele,M., Hottenga,J.J., Langenberg,C.,
            Kovacs,P., O'Reilly,P.F., Shin,S.Y., Esko,T., Hartiala,J.,
            Kanoni,S., Murgia,F., Parsa,A., Stephens,J., van der Harst,P.,
            Ellen van der Schoot,C., Allayee,H., Attwood,A., Balkau,B.,
            Bastardot,F., Basu,S., Baumeister,S.E., Biino,G., Bomba,L.,
            Bonnefond,A., Cambien,F., Chambers,J.C., Cucca,F., D'Adamo,P.,
            Davies,G., de Boer,R.A., de Geus,E.J., Doring,A., Elliott,P.,
            Erdmann,J., Evans,D.M., Falchi,M., Feng,W., Folsom,A.R.,
            Frazer,I.H., Gibson,Q.D., Glazer,N.L., Hammond,C.,
            Hartikainen,A.L., Heckbert,S.R., Hengstenberg,C., Hersch,M.,
            Illig,T., Loos,R.J., Jolley,J., Khaw,K.T., Kuhnel,B.,
            Kyrtsonis,M.C., Lagou,V., Lloyd-Jones,H., Lumley,T., Mangino,M.,
            Maschio,A., Mateo Leach,I., McKnight,B., Memari,Y., Mitchell,B.D.,
            Montgomery,G.W., Nakamura,Y., Nauck,M., Navis,G., Nothlings,U.,
            Nolte,I.M., Porteous,D.J., Pouta,A., Pramstaller,P.P., Pullat,J.,
            Ring,S.M., Rotter,J.I., Ruggiero,D., Ruokonen,A., Sala,C.,
            Samani,N.J., Sambrook,J., Schlessinger,D., Schreiber,S.,
            Schunkert,H., Scott,J., Smith,N.L., Snieder,H., Starr,J.M.,
            Stumvoll,M., Takahashi,A., Tang,W.H., Taylor,K., Tenesa,A., Lay
            Thein,S., Tonjes,A., Uda,M., Ulivi,S., van Veldhuisen,D.J.,
            Visscher,P.M., Volker,U., Wichmann,H.E., Wiggins,K.L.,
            Willemsen,G., Yang,T.P., Hua Zhao,J., Zitting,P., Bradley,J.R.,
            Dedoussis,G.V., Gasparini,P., Hazen,S.L., Metspalu,A., Pirastu,M.,
            Shuldiner,A.R., Joost van Pelt,L., Zwaginga,J.J., Boomsma,D.I.,
            Deary,I.J., Franke,A., Froguel,P., Ganesh,S.K., Jarvelin,M.R.,
            Martin,N.G., Meisinger,C., Psaty,B.M., Spector,T.D., Wareham,N.J.,
            Akkerman,J.W., Ciullo,M., Deloukas,P., Greinacher,A., Jupe,S.,
            Kamatani,N., Khadake,J., Kooner,J.S., Penninger,J., Prokopenko,I.,
            Stemple,D., Toniolo,D., Wernisch,L., Sanna,S., Hicks,A.A.,
            Rendon,A., Ferreira,M.A., Ouwehand,W.H. and Soranzo,N.
  TITLE     New gene functions in megakaryopoiesis and platelet formation
  JOURNAL   Nature 480 (7376), 201-208 (2011)
   PUBMED   22139419
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC003043.2.
            
            On May 17, 2019 this sequence version replaced NM_198475.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC030200.1, ERR3218372.240711.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267751 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000293443.12/ ENSP00000293443.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-257               AC003043.2         24733-24989
            258-485             AC003043.2         28454-28681
            486-578             AC003043.2         28915-29007
            579-737             AC003043.2         31998-32156
            738-917             AC003043.2         32234-32413
            918-1034            AC003043.2         32512-32628
            1035-1161           AC003043.2         32745-32871
            1162-3138           AC003043.2         33395-35371
FEATURES             Location/Qualifiers
     source          1..3138
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     gene            1..3138
                     /gene="FAM171A2"
                     /note="family with sequence similarity 171 member A2"
                     /db_xref="GeneID:284069"
                     /db_xref="HGNC:HGNC:30480"
     exon            1..257
                     /gene="FAM171A2"
                     /inference="alignment:Splign:2.1.0"
     CDS             140..2620
                     /gene="FAM171A2"
                     /note="protein FAM171A2"
                     /codon_start=1
                     /product="protein FAM171A2 precursor"
                     /protein_id="NP_940877.2"
                     /db_xref="CCDS:CCDS45701.1"
                     /db_xref="GeneID:284069"
                     /db_xref="HGNC:HGNC:30480"
                     /translation="MPPASGPSVLARLLPLLGLLLGSASRAPGKSPPEPPSPQEILIK
                     VQVYVSGELVPLARASVDVFGNRTLLAAGTTDSEGVATLPLSYRLGTWVLVTAARPGF
                     LTNSVPWRVDKLPLYASVSLYLLPERPATLILYEDLVHILLGSPGARSQPLVQFQRRA
                     ARLPVSSTYSQLWASLTPASTQQEMRAFPAFLGTEASSSGNGSWLELMPLTAVSVHLL
                     TGNGTEVPLSGPIHLSLPVPSETRALTVGTSIPAWRFDPKSGLWVRNGTGVIRKEGRQ
                     LYWTFVSPQLGYWVAAMASPTAGLVTITSGIQDIGTYHTIFLLTILAALALLVLILLC
                     LLIYYCRRRCLKPRQQHRKLQLSGPSDGNKRDQATSMSQLHLICGGPLEPAPSGDPEA
                     PPPGPLHSAFSSSRDLASSRDDFFRTKPRSASRPAAEPSGARGGESAGLKGARSAEGP
                     GGLEPGLEEHRRGPSGAAAFLHEPPSPPPPFDHYLGHKGAAEGKTPDFLLSQSVDQLA
                     RPPSLGQAGQLIFCGSIDHLKDNVYRNVMPTLVIPAHYVRLGGEAGAAGVGDEPAPPE
                     GTAPGPARAFPQPDPQRPQMPGHSGPGGEGGGGGGEGWGAGRAAPVSGSVTIPVLFNE
                     STMAQLNGELQALTEKKLLELGVKPHPRAWFVSLDGRSNSQVRHSYIDLQAGGGARST
                     DASLDSGVDVHEARPARRRPAREERERAPPAAPPPPPAPPRLALSEDTEPSSSESRTG
                     LCSPEDNSLTPLLDEVAAPEGRAATVPRGRGRSRGDSSRSSASELRRDSLTSPEDELG
                     AEVGDEAGDKKSPWQRREERPLMVFNVK"
     exon            258..485
                     /gene="FAM171A2"
                     /inference="alignment:Splign:2.1.0"
     exon            486..578
                     /gene="FAM171A2"
                     /inference="alignment:Splign:2.1.0"
     exon            579..737
                     /gene="FAM171A2"
                     /inference="alignment:Splign:2.1.0"
     exon            738..917
                     /gene="FAM171A2"
                     /inference="alignment:Splign:2.1.0"
     exon            918..1034
                     /gene="FAM171A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1035..1161
                     /gene="FAM171A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1162..3138
                     /gene="FAM171A2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3119..3124
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM171A2"
                     /note="hexamer: TATAAA"
     polyA_site      3138
                     /gene="FAM171A2"
                     /note="major polyA site"
ORIGIN      
        1 gacaatcgcg ctgagcgggc gccgcagcgg gagcgggagc cggagctgcg aggcgcggcg
       61 cagagctggg gctgcgcggg gccgggcgag cgggaccagg cgggagccat ggaccgctag
      121 ggcccggcct agccccgcga tgccgccggc gagtggcccc agcgtcctcg cgcggctgtt
      181 gccgctgctg gggctgctgc tcggcagcgc ctcccgggct cccggcaagt cgccgccgga
      241 gccccccagc ccgcaggaga tcctgatcaa ggtgcaggtg tatgtgagcg gggagctggt
      301 gcccctggcc cgggcctcag tggatgtgtt tgggaaccgg actctgctgg cagctggcac
      361 cacagactca gagggtgtgg ccaccctgcc cctcagttat cgcttgggca cctgggtgct
      421 ggtcactgct gcccgccctg gcttcctcac caactctgtg ccctggcgtg ttgacaagct
      481 gcccttgtat gcgtctgtca gcctctacct gctccctgag cggccggcca cgctcatcct
      541 ctatgaggac ctggtgcaca ttctcctagg ctctcccggt gcccgctccc agcccttggt
      601 gcagttccag cgccgggctg cccgcctgcc tgtcagctcc acctacagcc agctctgggc
      661 gtcacttacg cctgccagca cccagcagga aatgcgggct ttccctgcct tcctgggcac
      721 tgaggcctcc agctcaggca atggctcctg gctggagctg atgcccctga ctgctgtgag
      781 cgtgcacctg ctgacaggta atgggacaga ggtgccgctc tcaggcccca ttcacctgtc
      841 cctgcccgtg ccctccgaga ctcgtgccct caccgtgggc accagcattc cagcctggag
      901 atttgacccc aagagtgggc tgtgggtgcg caatggcact ggtgtaatcc ggaaggaagg
      961 ccggcagctc tactggacct tcgtctcccc ccagctgggg tactgggtgg ccgccatggc
     1021 ctcccccacg gctgggctgg tcaccatcac gtcgggcatc caggacatcg gcacctacca
     1081 caccatcttc ttgctcacca tcctggcagc cctggccctg ctggtgctta tcctgctgtg
     1141 tctgctcatc tactactgcc ggaggcgctg cctgaagccg aggcaacagc accgcaagct
     1201 gcagctctcg gggccctctg acggtaacaa acgagaccag gccacctcga tgtcccagct
     1261 ccacctcatc tgtgggggac ccctggaacc cgccccgtcg ggggaccccg aggctccgcc
     1321 tccaggcccc ctccactcgg ccttctccag ctcccgggac ttggcctcct cccgggatga
     1381 cttcttccgc accaagccgc gctctgccag ccgcccggcc gccgagcctt cgggtgcccg
     1441 cgggggcgag agcgccgggc tcaagggcgc tcgctcggcc gagggccccg gcgggctgga
     1501 gcccggccta gaggagcacc ggcgggggcc ctcgggggct gcggccttcc tgcacgagcc
     1561 gccctcgccg ccgccgccct tcgaccacta cctgggccac aagggggcgg ccgagggcaa
     1621 gacccccgac ttcctgctgt cgcagtcggt ggaccagctg gcgcggccgc cgtcgctggg
     1681 ccaggcgggg cagctcatct tctgcggctc catcgaccac ctcaaggaca acgtctaccg
     1741 caacgtcatg cccaccctgg tgatccccgc gcactacgtg cgcctcggcg gcgaggcggg
     1801 cgccgccggc gtgggcgacg agccggcccc gccggagggc acggcacccg gcccggcgcg
     1861 cgcttttccc cagcccgacc cccagcgccc gcagatgccg ggccactcgg gcccgggggg
     1921 cgagggcggc gggggcggcg gcgagggctg gggggccggg cgcgcggcgc ccgtcagtgg
     1981 ctcagtcacc atccctgtgc tattcaacga gtccaccatg gcgcagctca acggggagct
     2041 gcaggccctg accgagaaga agctgctgga actgggcgtg aagccgcacc cgcgcgcctg
     2101 gttcgtgtcc ctcgacgggc gctccaactc gcaagtgcgc cactcttaca tcgacctgca
     2161 ggcgggcggc ggggcacgca gcaccgacgc cagcctggac tcgggcgtag atgtccacga
     2221 ggcgcggccc gcgcgccgcc ggcccgcgag ggaggagcgg gagcgcgccc cgcctgccgc
     2281 gccgccgccg ccgcccgcgc ccccgcgcct ggcgctcagc gaggacacgg agcccagcag
     2341 cagcgagagc cgcacgggcc tctgctctcc ggaggacaac tcgctgacgc cgctgctgga
     2401 cgaggtggcg gcgcccgagg gccgggcggc cacggtaccc cgggggcggg gccgcagccg
     2461 cggggacagc tcccgcagca gcgccagcga gctgcggcgc gactcgctca ccagcccgga
     2521 ggacgagctg ggggcggagg tgggcgacga ggcgggagac aagaagagcc cgtggcagcg
     2581 gcgggaggag cggccgctga tggtgttcaa cgtcaagtag cgcccgcgca gggcctggca
     2641 ccgcccctcc cgcgcgggcc cgcacccagg gtgcgcgccc cgggggcccg cgggggccct
     2701 cgcgcgtagc tcccagcccc aggccggaga ggggcccagg ggccttggag ctgttccgtg
     2761 gttggtgctg ggtcgtgtct tgcaagggac cctgtgtctg cctccaagcc ggggaggagg
     2821 gggggtccag acccccacgg ggaggtgccg gggaggaggg ctggggggaa gcagtgcctg
     2881 tgtagacgtg gctgtacata gaaagctcta ttgtgggaaa gcaggagggg tgacccagcc
     2941 tcagctgcta gtgtgagggc tgggaaggga gggggcgttc tttgtggacc cctgggaggg
     3001 gagggggtgc tgcttgctga ctagcccatc tctgggctac gatgtcacag ggctggtggc
     3061 tgggacagct ctggggacta gggggtaatg tgatacagcc gatgtgggca gcagcaaata
     3121 taaaactggt gaggttaa
//
