LOCUS       NM_000509               1565 bp    mRNA    linear   PRI 17-MAR-2024
DEFINITION  Homo sapiens fibrinogen gamma chain (FGG), transcript variant
            gamma, mRNA.
ACCESSION   NM_000509
VERSION     NM_000509.6
KEYWORDS    RefSeq.
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 1565)
  AUTHORS   Xie,X., Du,J., Geng,S., Yi,B., Li,Q. and Zuo,J.
  TITLE     A novel mutation in the FGG gene causes hypofibrinogenemia in a
            Chinese family
  JOURNAL   Hereditas 161 (1), 9 (2024)
   PUBMED   38374144
  REMARK    GeneRIF: A novel mutation in the FGG gene causes hypofibrinogenemia
            in a Chinese family.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1565)
  AUTHORS   Xu,N., Zheng,L., Dai,Z., Zhu,J., Xie,P., Yang,S. and Chen,F.
  TITLE     A novel missense mutation (FGG c.1168G > T) in the gamma chain of
            fibrinogen causing congenital hypodysfibrinogenemia with bleeding
            phenotype
  JOURNAL   Hereditas 161 (1), 4 (2024)
   PUBMED   38233949
  REMARK    GeneRIF: A novel missense mutation (FGG c.1168G > T) in the gamma
            chain of fibrinogen causing congenital hypodysfibrinogenemia with
            bleeding phenotype.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1565)
  AUTHORS   Shao,X., Ma,J., Wang,Z., Sun,M., Huang,Z., Jiang,Z., Liu,X., Li,S.
            and Liu,Y.
  TITLE     [Genetic analysis of a Chinese pedigree affected with Congenital
            dysfibrinogenemia due to variant of FGG gene]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 40 (11), 1324-1329 (2023)
   PUBMED   37906135
  REMARK    GeneRIF: [Genetic analysis of a Chinese pedigree affected with
            Congenital dysfibrinogenemia due to variant of FGG gene].
REFERENCE   4  (bases 1 to 1565)
  AUTHORS   Zhang,Z., Li,H., Weng,H., Zhou,G., Chen,H., Yang,G., Zhang,P.,
            Zhang,X., Ji,Y., Ying,K., Liu,B., Xu,Q., Tang,Y., Zhu,G., Liu,Z.,
            Xia,S., Yang,X., Dong,L., Zhu,L., Zeng,M., Yuan,Y., Yang,Y.,
            Zhang,N., Xu,X., Pang,W., Zhang,M., Zhang,Y., Zhen,K., Wang,D.,
            Lei,J., Wu,S., Shu,S., Zhang,Y., Zhang,S., Gao,Q., Huang,Q.,
            Deng,C., Fu,X., Chen,G., Duan,W., Wan,J., Xie,W., Zhang,P.,
            Wang,S., Yang,P., Zuo,X., Zhai,Z. and Wang,C.
  CONSRTM   China pUlmonary Thromboembolism REgistry Study (CURES)
            investigators
  TITLE     Genome-wide association analyses identified novel susceptibility
            loci for pulmonary embolism among Han Chinese population
  JOURNAL   BMC Med 21 (1), 153 (2023)
   PUBMED   37076872
  REMARK    GeneRIF: Genome-wide association analyses identified novel
            susceptibility loci for pulmonary embolism among Han Chinese
            population.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1565)
  AUTHORS   Ge,S., Luo,Y., Dong,R., Guo,X., Wang,M. and Chen,Y.
  TITLE     Two Novel Heterozygous Mutations (p.gammaPhe230Val and
            p.AalphaAsn839Thr) Cause Hereditary Hypodysfibrinogenemia in Two
            Chinese Independent Families
  JOURNAL   Acta Haematol 146 (3), 252-258 (2023)
   PUBMED   36599322
  REMARK    GeneRIF: Two Novel Heterozygous Mutations (p.gammaPhe230Val and
            p.AalphaAsn839Thr) Cause Hereditary Hypodysfibrinogenemia in Two
            Chinese Independent Families.
REFERENCE   6  (bases 1 to 1565)
  AUTHORS   Roy,S., Yu,S., Banerjee,D., Overton,O., Mukhopadhyay,G., Oddoux,C.,
            Grieninger,G. and Redman,C.
  TITLE     Assembly and secretion of fibrinogen. Degradation of individual
            chains
  JOURNAL   J Biol Chem 267 (32), 23151-23158 (1992)
   PUBMED   1429662
REFERENCE   7  (bases 1 to 1565)
  AUTHORS   Yoshida,N., Imaoka,S., Hirata,H., Matsuda,M. and Asakura,S.
  TITLE     Heterozygous abnormal fibrinogen Osaka III with the replacement of
            gamma arginine-275 by histidine has an apparently higher molecular
            weight gamma-chain variant
  JOURNAL   Thromb Haemost 68 (5), 534-538 (1992)
   PUBMED   1455400
REFERENCE   8  (bases 1 to 1565)
  AUTHORS   Mimuro,J., Muramatsu,S., Maekawa,H., Sakata,Y., Kaneko,M.,
            Yoshitake,S., Okuma,M., Ito,Y., Takeda,Y. and Matsuda,M.
  TITLE     Gene analyses of abnormal fibrinogens with a mutation in the gamma
            chain
  JOURNAL   Int J Hematol 56 (2), 129-134 (1992)
   PUBMED   1421174
REFERENCE   9  (bases 1 to 1565)
  AUTHORS   Marchetti,L., Zanelli,T., Malcovati,M. and Tenchini,M.L.
  TITLE     Polymorphism of the human gamma chain fibrinogen gene
  JOURNAL   DNA Seq 1 (6), 419-422 (1991)
   PUBMED   1685103
REFERENCE   10 (bases 1 to 1565)
  AUTHORS   Blomback,B., Hessel,B. and Hogg,D.
  TITLE     Disulfide bridges in nh2 -terminal part of human fibrinogen
  JOURNAL   Thromb Res 8 (5), 639-658 (1976)
   PUBMED   936108
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX382942.2, BC021674.1 and
            AW014527.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 14, 2020 this sequence version replaced NM_000509.5.
            
            Summary: The protein encoded by this gene is the gamma component of
            fibrinogen, a blood-borne glycoprotein comprised of three pairs of
            nonidentical polypeptide chains. Following vascular injury,
            fibrinogen is cleaved by thrombin to form fibrin which is the most
            abundant component of blood clots. In addition, various cleavage
            products of fibrinogen and fibrin regulate cell adhesion and
            spreading, display vasoconstrictor and chemotactic activities, and
            are mitogens for several cell types. Mutations in this gene lead to
            several disorders, including dysfibrinogenemia, hypofibrinogenemia
            and thrombophilia. Alternative splicing results in transcript
            variants encoding different isoforms. [provided by RefSeq, Aug
            2015].
            
            Transcript Variant: This variant (gamma-A) is the predominant
            transcript and is shorter than variant gamma-B. Variant gamma-A
            encodes isoform gamma-A, which is shorter and has a distinct
            C-terminus compared to isoform gamma-B.
            
            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 :: BC007044.1, AK290824.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155590, SAMN04284274
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 BX382942.2         193-195
            4-1558              BC021674.1         5-1559
            1559-1565           AW014527.1         19-25               c
FEATURES             Location/Qualifiers
     source          1..1565
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q32.1"
     gene            1..1565
                     /gene="FGG"
                     /note="fibrinogen gamma chain"
                     /db_xref="GeneID:2266"
                     /db_xref="HGNC:HGNC:3694"
                     /db_xref="MIM:134850"
     exon            1..125
                     /gene="FGG"
                     /inference="alignment:Splign:2.1.0"
     CDS             48..1361
                     /gene="FGG"
                     /note="isoform gamma-A precursor is encoded by transcript
                     variant gamma; fibrinogen, gamma polypeptide; testicular
                     tissue protein Li 70"
                     /codon_start=1
                     /product="fibrinogen gamma chain isoform gamma-A
                     precursor"
                     /protein_id="NP_000500.2"
                     /db_xref="CCDS:CCDS47153.1"
                     /db_xref="GeneID:2266"
                     /db_xref="HGNC:HGNC:3694"
                     /db_xref="MIM:134850"
                     /translation="MSWSLHPRNLILYFYALLFLSSTCVAYVATRDNCCILDERFGSY
                     CPTTCGIADFLSTYQTKVDKDLQSLEDILHQVENKTSEVKQLIKAIQLTYNPDESSKP
                     NMIDAATLKSRKMLEEIMKYEASILTHDSSIRYLQEIYNSNNQKIVNLKEKVAQLEAQ
                     CQEPCKDTVQIHDITGKDCQDIANKGAKQSGLYFIKPLKANQQFLVYCEIDGSGNGWT
                     VFQKRLDGSVDFKKNWIQYKEGFGHLSPTGTTEFWLGNEKIHLISTQSAIPYALRVEL
                     EDWNGRTSTADYAMFKVGPEADKYRLTYAYFAGGDAGDAFDGFDFGDDPSDKFFTSHN
                     GMQFSTWDNDNDKFEGNCAEQDGSGWWMNKCHAGHLNGVYYQGGTYSKASTPNGYDNG
                     IIWATWKTRWYSMKKTTMKIIPFNRLTIGEGQQHHLGGAKQAGDV"
     exon            126..170
                     /gene="FGG"
                     /inference="alignment:Splign:2.1.0"
     exon            171..354
                     /gene="FGG"
                     /inference="alignment:Splign:2.1.0"
     exon            355..448
                     /gene="FGG"
                     /inference="alignment:Splign:2.1.0"
     exon            449..579
                     /gene="FGG"
                     /inference="alignment:Splign:2.1.0"
     exon            580..713
                     /gene="FGG"
                     /inference="alignment:Splign:2.1.0"
     exon            714..898
                     /gene="FGG"
                     /inference="alignment:Splign:2.1.0"
     exon            899..1176
                     /gene="FGG"
                     /inference="alignment:Splign:2.1.0"
     exon            1177..1346
                     /gene="FGG"
                     /inference="alignment:Splign:2.1.0"
     exon            1347..1565
                     /gene="FGG"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1540..1545
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGG"
                     /note="hexamer: AATAAA"
     polyA_site      1565
                     /gene="FGG"
                     /note="major polyA site"
ORIGIN      
        1 gacagtgctg acactacaag gctcggagct ccgggcactc agacatcatg agttggtcct
       61 tgcacccccg gaatttaatt ctctacttct atgctctttt atttctctct tcaacatgtg
      121 tagcatatgt tgctaccaga gacaactgct gcatcttaga tgaaagattc ggtagttatt
      181 gtccaactac ctgtggcatt gcagatttcc tgtctactta tcaaaccaaa gtagacaagg
      241 atctacagtc tttggaagac atcttacatc aagttgaaaa caaaacatca gaagtcaaac
      301 agctgataaa agcaatccaa ctcacttata atcctgatga atcatcaaaa ccaaatatga
      361 tagacgctgc tactttgaag tccaggaaaa tgttagaaga aattatgaaa tatgaagcat
      421 cgattttaac acatgactca agtattcgat atttgcagga aatatataat tcaaataatc
      481 aaaagattgt taacctgaaa gagaaggtag cccagcttga agcacagtgc caggaacctt
      541 gcaaagacac ggtgcaaatc catgatatca ctgggaaaga ttgtcaagac attgccaata
      601 agggagctaa acagagcggg ctttacttta ttaaacctct gaaagctaac cagcaattct
      661 tagtctactg tgaaatcgat gggtctggaa atggatggac tgtgtttcag aagagacttg
      721 atggcagtgt agatttcaag aaaaactgga ttcaatataa agaaggattt ggacatctgt
      781 ctcctactgg cacaacagaa ttttggctgg gaaatgagaa gattcatttg ataagcacac
      841 agtctgccat cccatatgca ttaagagtgg aactggaaga ctggaatggc agaaccagta
      901 ctgcagacta tgccatgttc aaggtgggac ctgaagctga caagtaccgc ctaacatatg
      961 cctacttcgc tggtggggat gctggagatg cctttgatgg ctttgatttt ggcgatgatc
     1021 ctagtgacaa gtttttcaca tcccataatg gcatgcagtt cagtacctgg gacaatgaca
     1081 atgataagtt tgaaggcaac tgtgctgaac aggatggatc tggttggtgg atgaacaagt
     1141 gtcacgctgg ccatctcaat ggagtttatt accaaggtgg cacttactca aaagcatcta
     1201 ctcctaatgg ttatgataat ggcattattt gggccacttg gaaaacccgg tggtattcca
     1261 tgaagaaaac cactatgaag ataatcccat tcaacagact cacaattgga gaaggacagc
     1321 aacaccacct ggggggagcc aaacaggctg gagacgttta aaagaccgtt tcaaaagaga
     1381 tttacttttt taaaggactt tatctgaaca gagagatata atatttttcc tattggacaa
     1441 tggacttgca aagcttcact tcattttaag agcaaaagac cccatgttga aaactccata
     1501 acagttttat gctgatgata atttatctac atgcatttca ataaaccttt tgtttcctaa
     1561 gacta
//
