LOCUS       NM_173558               3037 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.
ACCESSION   NM_173558
VERSION     NM_173558.4
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 3037)
  AUTHORS   Chuan,J., He,S., Xie,T., Wang,G. and Yang,Z.
  TITLE     Characterization of guanine nucleotide exchange activity of DH
            domain of human FGD2
  JOURNAL   Protein Expr Purif 176, 105693 (2020)
   PUBMED   32681954
  REMARK    GeneRIF: Characterization of guanine nucleotide exchange activity
            of DH domain of human FGD2.
REFERENCE   2  (bases 1 to 3037)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 3037)
  AUTHORS   Navarini,A.A., Simpson,M.A., Weale,M., Knight,J., Carlavan,I.,
            Reiniche,P., Burden,D.A., Layton,A., Bataille,V., Allen,M.,
            Pleass,R., Pink,A., Creamer,D., English,J., Munn,S., Walton,S.,
            Willis,C., Deret,S., Voegel,J.J., Spector,T., Smith,C.H.,
            Trembath,R.C. and Barker,J.N.
  CONSRTM   Acne Genetic Study Group
  TITLE     Genome-wide association study identifies three novel susceptibility
            loci for severe Acne vulgaris
  JOURNAL   Nat Commun 5, 4020 (2014)
   PUBMED   24927181
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3037)
  AUTHORS   Huber,C., Martensson,A., Bokoch,G.M., Nemazee,D. and Gavin,A.L.
  TITLE     FGD2, a CDC42-specific exchange factor expressed by
            antigen-presenting cells, localizes to early endosomes and active
            membrane ruffles
  JOURNAL   J Biol Chem 283 (49), 34002-34012 (2008)
   PUBMED   18838382
  REMARK    GeneRIF: FGD2 has a role in leukocyte signaling and vesicle
            trafficking in cells specialized to present antigen in the immune
            system
REFERENCE   5  (bases 1 to 3037)
  AUTHORS   Delague,V., Jacquier,A., Hamadouche,T., Poitelon,Y., Baudot,C.,
            Boccaccio,I., Chouery,E., Chaouch,M., Kassouri,N., Jabbour,R.,
            Grid,D., Megarbane,A., Haase,G. and Levy,N.
  TITLE     Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN
            cause autosomal recessive Charcot-Marie-Tooth type 4H
  JOURNAL   Am J Hum Genet 81 (1), 1-16 (2007)
   PUBMED   17564959
REFERENCE   6  (bases 1 to 3037)
  AUTHORS   Rabizadeh,S. and Bredesen,D.E.
  TITLE     Ten years on: mediation of cell death by the common neurotrophin
            receptor p75(NTR)
  JOURNAL   Cytokine Growth Factor Rev 14 (3-4), 225-239 (2003)
   PUBMED   12787561
  REMARK    Review article
REFERENCE   7  (bases 1 to 3037)
  AUTHORS   Salehi,A.H., Xanthoudakis,S. and Barker,P.A.
  TITLE     NRAGE, a p75 neurotrophin receptor-interacting protein, induces
            caspase activation and cell death through a JNK-dependent
            mitochondrial pathway
  JOURNAL   J Biol Chem 277 (50), 48043-48050 (2002)
   PUBMED   12376548
REFERENCE   8  (bases 1 to 3037)
  AUTHORS   Harrington,A.W., Kim,J.Y. and Yoon,S.O.
  TITLE     Activation of Rac GTPase by p75 is necessary for c-jun N-terminal
            kinase-mediated apoptosis
  JOURNAL   J Neurosci 22 (1), 156-166 (2002)
   PUBMED   11756498
REFERENCE   9  (bases 1 to 3037)
  AUTHORS   Hattori,A., Okumura,K., Nagase,T., Kikuno,R., Hirosawa,M. and
            Ohara,O.
  TITLE     Characterization of long cDNA clones from human adult spleen
  JOURNAL   DNA Res 7 (6), 357-366 (2000)
   PUBMED   11214971
REFERENCE   10 (bases 1 to 3037)
  AUTHORS   Pasteris,N.G. and Gorski,J.L.
  TITLE     Isolation, characterization, and mapping of the mouse and human
            Fgd2 genes, faciogenital dysplasia (FGD1; Aarskog syndrome) gene
            homologues
  JOURNAL   Genomics 60 (1), 57-66 (1999)
   PUBMED   10458911
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC023645.2, BC053655.1 and
            AL160264.22.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_173558.3.
            
            Summary: The protein encoded by this gene belongs to a family of
            guanine nucleotide exchange factors (GEFs) which control
            cytoskeleton-dependent membrane rearrangements by activating the
            cell division cycle 42 (CDC42) protein. This gene is expressed in B
            lymphocytes, macrophages, and dendritic cells. The encoded protein
            may play a role in leukocyte signaling and vesicle trafficking in
            antigen-presenting cells in the immune system. [provided by RefSeq,
            Oct 2016].
            
            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 :: SRR1163655.91631.1, BC023645.2
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000274963.13/ ENSP00000274963.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-258               BC023645.2         9-266
            259-459             BC053655.1         212-412
            460-2600            BC023645.2         468-2608
            2601-3031           BC023645.2         2648-3078
            3032-3037           AL160264.22        27145-27150
FEATURES             Location/Qualifiers
     source          1..3037
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.2"
     gene            1..3037
                     /gene="FGD2"
                     /gene_synonym="ZFYVE4"
                     /note="FYVE, RhoGEF and PH domain containing 2"
                     /db_xref="GeneID:221472"
                     /db_xref="HGNC:HGNC:3664"
                     /db_xref="MIM:605091"
     exon            1..231
                     /gene="FGD2"
                     /gene_synonym="ZFYVE4"
                     /inference="alignment:Splign:2.1.0"
     CDS             164..2131
                     /gene="FGD2"
                     /gene_synonym="ZFYVE4"
                     /note="FGD1 family, member 2; FLJ00276 protein; zinc
                     finger FYVE domain-containing protein 4; epididymis
                     secretory sperm binding protein"
                     /codon_start=1
                     /product="FYVE, RhoGEF and PH domain-containing protein 2"
                     /protein_id="NP_775829.2"
                     /db_xref="CCDS:CCDS4829.1"
                     /db_xref="GeneID:221472"
                     /db_xref="HGNC:HGNC:3664"
                     /db_xref="MIM:605091"
                     /translation="MKGASEEKLASVSNLVTVFENSRTPEAAPRGQRLEDVHHRPECR
                     PPESPGPREKTNVGEAVGSEPRTVSRRYLNSLKNKLSSEAWRKSCQPVTLSGSGTQEP
                     EKKIVQELLETEQAYVARLHLLDQVFFQELLKTARSSKAFPEDVVRVIFSNISSIYQF
                     HSQFFLPELQRRLDDWTANPRIGDVIQKLAPFLKMYSEYVKNFERAAELLATWTDKSP
                     LFQEVLTRIQSSEASGSLTLQHHMLEPVQRIPRYELLLKEYIQKLPAQAPDQADAQKA
                     LDMIFSAAQHSNAAITEMERLQDLWEVYQRLGLEDDIVDPSNTLLREGPVLKISFRRN
                     DPMERYLFLFNNMLLYCVPRVIQVGAQFQVRTRIDVAGMKVRELMDAEFPHSFLVSGK
                     QRTLELQARSQEEMISWMQAFQAAIDQIEKRNETFKAAAQGPEGDIQEQELQSEELGL
                     RAPQWVRDKMVTMCMRCQEPFNALTRRRHHCRACGYVVCARCSDYRAELKYDDNRPNR
                     VCLHCYAFLTGNVLPEAKEDKRRGILEKGSSATPDQSLMCSFLQLIGDKWGKSGPRGW
                     CVIPRDDPLVLYVYAAPQDMRAHTSIPLLGYQVTVGPQGDPRVFQLQQSGQLYTFKAE
                     TEELKGRWVKAMERAASGWSPSWPNDGDLSD"
     exon            232..463
                     /gene="FGD2"
                     /gene_synonym="ZFYVE4"
                     /inference="alignment:Splign:2.1.0"
     exon            464..541
                     /gene="FGD2"
                     /gene_synonym="ZFYVE4"
                     /inference="alignment:Splign:2.1.0"
     exon            542..690
                     /gene="FGD2"
                     /gene_synonym="ZFYVE4"
                     /inference="alignment:Splign:2.1.0"
     exon            691..847
                     /gene="FGD2"
                     /gene_synonym="ZFYVE4"
                     /inference="alignment:Splign:2.1.0"
     exon            848..986
                     /gene="FGD2"
                     /gene_synonym="ZFYVE4"
                     /inference="alignment:Splign:2.1.0"
     exon            987..1045
                     /gene="FGD2"
                     /gene_synonym="ZFYVE4"
                     /inference="alignment:Splign:2.1.0"
     exon            1046..1192
                     /gene="FGD2"
                     /gene_synonym="ZFYVE4"
                     /inference="alignment:Splign:2.1.0"
     exon            1193..1285
                     /gene="FGD2"
                     /gene_synonym="ZFYVE4"
                     /inference="alignment:Splign:2.1.0"
     exon            1286..1365
                     /gene="FGD2"
                     /gene_synonym="ZFYVE4"
                     /inference="alignment:Splign:2.1.0"
     exon            1366..1396
                     /gene="FGD2"
                     /gene_synonym="ZFYVE4"
                     /inference="alignment:Splign:2.1.0"
     exon            1397..1489
                     /gene="FGD2"
                     /gene_synonym="ZFYVE4"
                     /inference="alignment:Splign:2.1.0"
     exon            1490..1621
                     /gene="FGD2"
                     /gene_synonym="ZFYVE4"
                     /inference="alignment:Splign:2.1.0"
     exon            1622..1768
                     /gene="FGD2"
                     /gene_synonym="ZFYVE4"
                     /inference="alignment:Splign:2.1.0"
     exon            1769..1915
                     /gene="FGD2"
                     /gene_synonym="ZFYVE4"
                     /inference="alignment:Splign:2.1.0"
     exon            1916..3037
                     /gene="FGD2"
                     /gene_synonym="ZFYVE4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3016..3021
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGD2"
                     /gene_synonym="ZFYVE4"
                     /note="hexamer: AATAAA"
     polyA_site      3037
                     /gene="FGD2"
                     /gene_synonym="ZFYVE4"
                     /note="major polyA site"
ORIGIN      
        1 actctgaagc caagagccga ccttctgagc cctcaagaaa gatcagaaca gattcatggg
       61 tgatttagcc tatctgtccc aggccagcgt ggctgagtgt gctggctgga ggcctctctc
      121 tctgcttcga gggtagctga gatccacccc ggaaaccggc aggatgaagg gggcaagtga
      181 ggagaagctg gcatctgtgt ccaacctggt cactgtgttt gagaatagca ggaccccaga
      241 agcagcaccc agaggccaga ggctagagga cgtgcatcac cgccctgagt gcaggcctcc
      301 cgagtcccca ggaccacggg agaagacgaa tgtcggggag gccgtggggt ctgagcccag
      361 gacagtcagc aggaggtacc tgaactccct gaagaacaag ctgtccagcg aagcctggag
      421 gaaatcttgc cagcctgtga ccctctcagg atcggggacg caggagccag agaagaagat
      481 cgtccaggag ctgctggaga cagagcaggc ctatgtggcg cgcctccacc tgctagacca
      541 ggtgtttttc caggagctgc tgaagacagc ccgcagcagc aaggccttcc cagaggatgt
      601 ggtcagggtc atcttctcca acatctcctc catctatcag ttccattctc agttcttcct
      661 cccagagctg cagcggcgcc tggacgactg gacagctaac ccccgcatcg gtgacgtgat
      721 ccagaagctg gcccccttcc tgaagatgta cagtgagtat gtcaagaact ttgagcgagc
      781 ggctgagctg ctggccacct ggaccgacaa gtctccactc ttccaggagg ttctcactcg
      841 catccagagc agcgaggctt cgggcagcct gaccctgcag caccacatgc tggaaccagt
      901 gcagagaatt ccacgttacg agctgctgct caaggagtac atccagaagc tgccagccca
      961 ggccccagac caggccgatg cccagaaagc cctggacatg atcttctcag ctgcccagca
     1021 ctccaatgca gccatcactg agatggagcg gctgcaggac ctgtgggagg tgtaccagcg
     1081 cctgggcctc gaggacgaca tagtagaccc ctctaacacc ctgctccgtg agggcccggt
     1141 cctcaagatc tccttccgcc gcaacgaccc catggagcgc taccttttct tgttcaacaa
     1201 catgctgctc tactgtgtgc ccagggtgat ccaggtgggc gcccagttcc aggtgaggac
     1261 ccgcatcgat gtggccggga tgaaggtgcg ggagctgatg gatgctgagt ttccccactc
     1321 cttcctggtg tccgggaagc agcgcaccct ggagctgcaa gcccggtccc aggaggaaat
     1381 gatttcctgg atgcaggcct tccaagcagc cattgaccaa atcgagaagc ggaatgaaac
     1441 cttcaaggct gcggcccagg ggcctgaggg agacatccag gagcaggagc tgcagtctga
     1501 ggagctgggc ctccgggcac cgcagtgggt ccgggacaag atggtgacca tgtgcatgcg
     1561 ctgccaggag cccttcaacg ctctgacgcg ccgtcgccac cactgccggg cctgcggcta
     1621 tgtggtgtgt gccaggtgct ccgactaccg ggccgaactg aaatacgacg acaacaggcc
     1681 caaccgagtc tgcctccact gctacgcatt cctcactgga aatgtgctgc ctgaggccaa
     1741 ggaggacaag aggcggggca tcctggagaa agggtcctca gccacgcctg accagagcct
     1801 gatgtgcagc ttcctgcagc tcatcgggga caagtggggc aagagcggcc cccggggctg
     1861 gtgtgtgatc cctcgggatg accccctcgt gctctatgtc tatgctgccc ctcaggacat
     1921 gagggctcac acctccatcc ccctgctggg ctaccaggtg actgttgggc cccaggggga
     1981 ccctcgggtc ttccagctac agcagtcagg ccagctctac accttcaagg ccgagacgga
     2041 ggagctgaag ggccgctggg tgaaggccat ggagcgggcg gccagtggct ggagccccag
     2101 ctggcccaac gatggggacc tgtccgactg agccactgcc agccgctctc ctgcccacct
     2161 ctccccaccc tgaacccagc tcctgccaca gactgaccct gtggcctcag tgacccactg
     2221 ccccaagtgg tgctttcaga gaattgattc agccatctgc gcccaggcca cgtgtcccga
     2281 tctgggatta gaaaatatgg gtccattcct ttctagaaag gggacaacca agtgtctcag
     2341 tttgccttgc ggggaggggg ctcctgggcc atgggacttc cagtgctaaa actgggaaag
     2401 ccccaggtaa ccccggactg gtggtcacca tagtatggtt tttcatttgt atctcctggg
     2461 gagcttttaa agagtactgg tgaaaaacac atagtaaatt aattttaaaa atgtaaaaaa
     2521 caatgcctgt actgaagtac caccaccgat ttaaatgggc tgagttgggg gaggcatggg
     2581 gtcttttttt tttttttttt gagacagagt cttactctgt ttcccaggct ggagtgcaca
     2641 aacatggctc actacagcct cgctctcccg ggctccagtg atcctcccgc ctcagcctcc
     2701 caagtagctg ggattatagg tgtgtgccac tgtgccaagc taattttttt attttttgta
     2761 gagatgggat ttcaccatgt tactcaggct ggtctcaaac tcccagcctc aagcgatgct
     2821 cccacctcca cctcccaaag tgctgggatt acaggcgtga gccaccatac ctggcgcatg
     2881 catatttttt aagagtaccc actggagtct aatatatagc ctgggttacc tgggatgaag
     2941 aataaagaga gcaaactacc acaaccaatg gttgagcccc tgtcaagtgc cagtcatgat
     3001 agtagtaata ataataataa acatctattg gaccagg
//
