LOCUS       NM_017841               1186 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens succinate dehydrogenase complex assembly factor 2
            (SDHAF2), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_017841
VERSION     NM_017841.4
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 1186)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 1186)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 1186)
  AUTHORS   Sharma,P., Maklashina,E., Cecchini,G. and Iverson,T.M.
  TITLE     The roles of SDHAF2 and dicarboxylate in covalent flavinylation of
            SDHA, the human complex II flavoprotein
  JOURNAL   Proc Natl Acad Sci U S A 117 (38), 23548-23556 (2020)
   PUBMED   32887801
  REMARK    GeneRIF: The roles of SDHAF2 and dicarboxylate in covalent
            flavinylation of SDHA, the human complex II flavoprotein.
REFERENCE   4  (bases 1 to 1186)
  AUTHORS   Buffet,A., Burnichon,N., Favier,J. and Gimenez-Roqueplo,A.P.
  TITLE     An overview of 20 years of genetic studies in pheochromocytoma and
            paraganglioma
  JOURNAL   Best Pract Res Clin Endocrinol Metab 34 (2), 101416 (2020)
   PUBMED   32295730
  REMARK    Review article
REFERENCE   5  (bases 1 to 1186)
  AUTHORS   Mercado-Asis,L.B., Wolf,K.I., Jochmanova,I. and Taieb,D.
  TITLE     PHEOCHROMOCYTOMA: A GENETIC AND DIAGNOSTIC UPDATE
  JOURNAL   Endocr Pract 24 (1), 78-90 (2018)
   PUBMED   29144820
  REMARK    Review article
REFERENCE   6  (bases 1 to 1186)
  AUTHORS   Bausch,B., Schiavi,F., Ni,Y., Welander,J., Patocs,A., Ngeow,J.,
            Wellner,U., Malinoc,A., Taschin,E., Barbon,G., Lanza,V.,
            Soderkvist,P., Stenman,A., Larsson,C., Svahn,F., Chen,J.L.,
            Marquard,J., Fraenkel,M., Walter,M.A., Peczkowska,M., Prejbisz,A.,
            Jarzab,B., Hasse-Lazar,K., Petersenn,S., Moeller,L.C., Meyer,A.,
            Reisch,N., Trupka,A., Brase,C., Galiano,M., Preuss,S.F., Kwok,P.,
            Lendvai,N., Berisha,G., Makay,O., Boedeker,C.C., Weryha,G.,
            Racz,K., Januszewicz,A., Walz,M.K., Gimm,O., Opocher,G., Eng,C. and
            Neumann,H.P.H.
  CONSRTM   European-American-Asian Pheochromocytoma-Paraganglioma Registry
            Study Group
  TITLE     Clinical Characterization of the Pheochromocytoma and Paraganglioma
            Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for
            Gene-Informed Prevention
  JOURNAL   JAMA Oncol 3 (9), 1204-1212 (2017)
   PUBMED   28384794
  REMARK    GeneRIF: The SDHA, TMEM127, MAX, and SDHAF2 genes contribute to
            hereditary pheochromocytoma and paraganglioma.
REFERENCE   7  (bases 1 to 1186)
  AUTHORS   Stelzl,U., Worm,U., Lalowski,M., Haenig,C., Brembeck,F.H.,
            Goehler,H., Stroedicke,M., Zenkner,M., Schoenherr,A., Koeppen,S.,
            Timm,J., Mintzlaff,S., Abraham,C., Bock,N., Kietzmann,S.,
            Goedde,A., Toksoz,E., Droege,A., Krobitsch,S., Korn,B.,
            Birchmeier,W., Lehrach,H. and Wanker,E.E.
  TITLE     A human protein-protein interaction network: a resource for
            annotating the proteome
  JOURNAL   Cell 122 (6), 957-968 (2005)
   PUBMED   16169070
REFERENCE   8  (bases 1 to 1186)
  AUTHORS   Baysal,B.E., Farr,J.E., Rubinstein,W.S., Galus,R.A., Johnson,K.A.,
            Aston,C.E., Myers,E.N., Johnson,J.T., Carrau,R., Kirkpatrick,S.J.,
            Myssiorek,D., Singh,D., Saha,S., Gollin,S.M., Evans,G.A.,
            James,M.R. and Richard,C.W. 3rd.
  TITLE     Fine mapping of an imprinted gene for familial nonchromaffin
            paragangliomas, on chromosome 11q23
  JOURNAL   Am J Hum Genet 60 (1), 121-132 (1997)
   PUBMED   8981955
REFERENCE   9  (bases 1 to 1186)
  AUTHORS   Mariman,E.C., van Beersum,S.E., Cremers,C.W., Struycken,P.M. and
            Ropers,H.H.
  TITLE     Fine mapping of a putatively imprinted gene for familial
            non-chromaffin paragangliomas to chromosome 11q13.1: evidence for
            genetic heterogeneity
  JOURNAL   Hum Genet 95 (1), 56-62 (1995)
   PUBMED   7814027
REFERENCE   10 (bases 1 to 1186)
  AUTHORS   Else,T., Greenberg,S. and Fishbein,L.
  TITLE     Hereditary Paraganglioma-Pheochromocytoma Syndromes
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301715
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP003108.3.
            
            On Dec 3, 2019 this sequence version replaced NM_017841.3.
            
            Summary: This gene encodes a mitochondrial assembly factor needed
            for the flavination of a succinate dehydrogenase complex subunit
            (SDHA), which is required for activity of the succinate
            dehydrogenase complex. Mutations in this gene are associated with
            paraganglioma. [provided by RefSeq, May 2022].
            
            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 :: BC002331.2, BI544731.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000301761.7/
                                                  ENSP00000301761.3
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-59                AP003108.3         102312-102370
            60-283              AP003108.3         109813-110036
            284-393             AP003108.3         110192-110301
            394-1186            AP003108.3         118129-118921
FEATURES             Location/Qualifiers
     source          1..1186
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.2"
     gene            1..1186
                     /gene="SDHAF2"
                     /gene_synonym="C11orf79; hSDH5; PGL2; PPGL2; SDH5"
                     /note="succinate dehydrogenase complex assembly factor 2"
                     /db_xref="GeneID:54949"
                     /db_xref="HGNC:HGNC:26034"
                     /db_xref="MIM:613019"
     exon            1..59
                     /gene="SDHAF2"
                     /gene_synonym="C11orf79; hSDH5; PGL2; PPGL2; SDH5"
                     /inference="alignment:Splign:2.1.0"
     CDS             24..524
                     /gene="SDHAF2"
                     /gene_synonym="C11orf79; hSDH5; PGL2; PPGL2; SDH5"
                     /note="SDH assembly factor 2; succinate dehydrogenase
                     subunit 5, mitochondrial"
                     /codon_start=1
                     /product="succinate dehydrogenase assembly factor 2,
                     mitochondrial"
                     /protein_id="NP_060311.1"
                     /db_xref="CCDS:CCDS8007.1"
                     /db_xref="GeneID:54949"
                     /db_xref="HGNC:HGNC:26034"
                     /db_xref="MIM:613019"
                     /translation="MAVSTVFSTSSLMLALSRHSLLSPLLSVTSFRRFYRGDSPTDSQ
                     KDMIEIPLPPWQERTDESIETKRARLLYESRKRGMLENCILLSLFAKEHLQHMTEKQL
                     NLYDRLINEPSNDWDIYYWATEAKPAPEIFENEVMALLRDFAKNKNKEQRLRAPDLEY
                     LFEKPR"
     exon            60..283
                     /gene="SDHAF2"
                     /gene_synonym="C11orf79; hSDH5; PGL2; PPGL2; SDH5"
                     /inference="alignment:Splign:2.1.0"
     exon            284..393
                     /gene="SDHAF2"
                     /gene_synonym="C11orf79; hSDH5; PGL2; PPGL2; SDH5"
                     /inference="alignment:Splign:2.1.0"
     exon            394..1186
                     /gene="SDHAF2"
                     /gene_synonym="C11orf79; hSDH5; PGL2; PPGL2; SDH5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1162..1167
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SDHAF2"
                     /gene_synonym="C11orf79; hSDH5; PGL2; PPGL2; SDH5"
                     /note="hexamer: ATTAAA"
     polyA_site      1186
                     /gene="SDHAF2"
                     /gene_synonym="C11orf79; hSDH5; PGL2; PPGL2; SDH5"
                     /note="major polyA site"
ORIGIN      
        1 ggtttccggt gcaggtgggg aaaatggcgg tgtctacagt gttctcgact tcgtcgctga
       61 tgcttgctct gtcaaggcac agcctattgt ctcctttgct cagtgtgaca tcattcagac
      121 gcttctacag aggtgacagc ccaacagatt cccaaaagga catgattgaa atccctttgc
      181 ctccatggca ggagagaact gatgaatcca tagaaaccaa aagagcccgc ctgctctatg
      241 agagcagaaa gaggggaatg ttggaaaact gcattcttct tagtcttttt gctaaagaac
      301 atctgcagca catgacagaa aagcagctga acctctatga ccgcctgatt aacgagccta
      361 gtaatgactg ggatatttac tactgggcca cagaagctaa accagcccca gaaatatttg
      421 aaaatgaagt catggccctg ctgagagact ttgctaaaaa caaaaacaaa gagcagagac
      481 tgcgtgcccc agatcttgag tacctctttg aaaagccacg ttgagctgtg ctccacggcc
      541 tggcatgggg gttcagtctg tggatggtaa ctacttatga tggacgttag ccttgcttcc
      601 ggcttcttag atgcccagct gccctacccc agaccactgg tcctgcctca agtgatggac
      661 ataaccctct cctaggacat acatgtaaat gcacaatgtg actcattctc atactttttt
      721 gttcagctct gagcctcaaa agtgatttgt cagcagcgct ggcatgcagg ctttgcctgg
      781 ctgctatctc tagaggcaag tctgccacga gagggcactg caggcgaagc agttgtgctt
      841 gctcattgcc tcagcccaag tgtactcaaa gaaaagaggc agccagctgt gcgtgctgta
      901 tggaaagcct cccgccctcc ctgcagctcc ccgccctcag tggcccaggg ctttgttgaa
      961 gtggaactcc ccacttccaa cctggtatgg ctccttctgc gaagggaagc tgatcccagc
     1021 ctcctgagct gaatccttca aaggcacagc aggcagaatg agggccacag gcaggagtgg
     1081 tgtgggcaca ctgcttagga gtcaacatct tcatcattgg gctttcttta aaacgtgcac
     1141 tttgtaattt gaaagagaat tattaaagca tactgaaaaa aggaaa
//
