LOCUS       NM_016229               1249 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens cytochrome b5 reductase 2 (CYB5R2), transcript variant
            2, mRNA.
ACCESSION   NM_016229
VERSION     NM_016229.5
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 1249)
  AUTHORS   Chen,J., Sun,Y., Chen,L. and Zhou,Y.
  TITLE     NADH-Cytochrome B5 reductase 2 suppresses retinal vascular
            dysfunction through regulation of vascular endothelial growth
            factor A in diabetic retinopathy
  JOURNAL   Exp Eye Res 222, 109186 (2022)
   PUBMED   35820466
  REMARK    GeneRIF: NADH-Cytochrome B5 reductase 2 suppresses retinal vascular
            dysfunction through regulation of vascular endothelial growth
            factor A in diabetic retinopathy.
REFERENCE   2  (bases 1 to 1249)
  AUTHORS   Chen,J., Liao,L., Xu,H., Zhang,Z. and Zhang,J.
  TITLE     Long non-coding RNA MEG3 inhibits neovascularization in diabetic
            retinopathy by regulating microRNA miR-6720-5p and cytochrome B5
            reductase 2
  JOURNAL   Bioengineered 12 (2), 11872-11884 (2021)
   PUBMED   34978518
  REMARK    GeneRIF: Long non-coding RNA MEG3 inhibits neovascularization in
            diabetic retinopathy by regulating microRNA miR-6720-5p and
            cytochrome B5 reductase 2.
REFERENCE   3  (bases 1 to 1249)
  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   4  (bases 1 to 1249)
  AUTHORS   Jo,Y.S., Kim,M.S., Yoo,N.J. and Lee,S.H.
  TITLE     Intratumoral Heterogeneity for Inactivating Frameshift Mutation of
            CYB5R2 Gene in Colorectal Cancers
  JOURNAL   Pathol Oncol Res 26 (1), 585-586 (2020)
   PUBMED   29532410
  REMARK    GeneRIF: Intratumoral Heterogeneity for Inactivating Frameshift
            Mutation of CYB5R2 Gene in Colorectal Cancers.
REFERENCE   5  (bases 1 to 1249)
  AUTHORS   Liu,Q., Liu,Y., Li,W., Wang,X., Sawaya,R., Lang,F.F., Yung,W.K.,
            Chen,K., Fuller,G.N. and Zhang,W.
  TITLE     Genetic, epigenetic, and molecular landscapes of multifocal and
            multicentric glioblastoma
  JOURNAL   Acta Neuropathol 130 (4), 587-597 (2015)
   PUBMED   26323991
  REMARK    GeneRIF: Study showed that multifocal or multicentric glioblastomas
            have some underlying genetic and epigenetic characteristics that
            are associated with poor prognosis and that CYB5R2 is a new
            epigenetic marker for glioblastoma prognosis
REFERENCE   6  (bases 1 to 1249)
  AUTHORS   Xiao,X., Zhao,W., Tian,F., Zhou,X., Zhang,J., Huang,T., Hou,B.,
            Du,C., Wang,S., Mo,Y., Yu,N., Zhou,S., You,J., Zhang,Z., Huang,G.
            and Zeng,X.
  TITLE     Cytochrome b5 reductase 2 is a novel candidate tumor suppressor
            gene frequently inactivated by promoter hypermethylation in human
            nasopharyngeal carcinoma
  JOURNAL   Tumour Biol 35 (4), 3755-3763 (2014)
   PUBMED   24338690
  REMARK    GeneRIF: findings suggest that CYB5R2 may be a functional tumor
            suppressor gene, frequently inactivated by hypermethylation of its
            promoter in nasopharyngeal carcinoma
REFERENCE   7  (bases 1 to 1249)
  AUTHORS   Franceschini,N., Fox,E., Zhang,Z., Edwards,T.L., Nalls,M.A.,
            Sung,Y.J., Tayo,B.O., Sun,Y.V., Gottesman,O., Adeyemo,A.,
            Johnson,A.D., Young,J.H., Rice,K., Duan,Q., Chen,F., Li,Y.,
            Tang,H., Fornage,M., Keene,K.L., Andrews,J.S., Smith,J.A.,
            Faul,J.D., Guangfa,Z., Guo,W., Liu,Y., Murray,S.S., Musani,S.K.,
            Srinivasan,S., Velez Edwards,D.R., Wang,H., Becker,L.C., Bovet,P.,
            Bochud,M., Broeckel,U., Burnier,M., Carty,C., Chasman,D.I.,
            Ehret,G., Chen,W.M., Chen,G., Chen,W., Ding,J., Dreisbach,A.W.,
            Evans,M.K., Guo,X., Garcia,M.E., Jensen,R., Keller,M.F., Lettre,G.,
            Lotay,V., Martin,L.W., Moore,J.H., Morrison,A.C., Mosley,T.H.,
            Ogunniyi,A., Palmas,W., Papanicolaou,G., Penman,A., Polak,J.F.,
            Ridker,P.M., Salako,B., Singleton,A.B., Shriner,D., Taylor,K.D.,
            Vasan,R., Wiggins,K., Williams,S.M., Yanek,L.R., Zhao,W.,
            Zonderman,A.B., Becker,D.M., Berenson,G., Boerwinkle,E.,
            Bottinger,E., Cushman,M., Eaton,C., Nyberg,F., Heiss,G.,
            Hirschhron,J.N., Howard,V.J., Karczewsk,K.J., Lanktree,M.B.,
            Liu,K., Liu,Y., Loos,R., Margolis,K., Snyder,M., Psaty,B.M.,
            Schork,N.J., Weir,D.R., Rotimi,C.N., Sale,M.M., Harris,T.,
            Kardia,S.L., Hunt,S.C., Arnett,D., Redline,S., Cooper,R.S.,
            Risch,N.J., Rao,D.C., Rotter,J.I., Chakravarti,A., Reiner,A.P.,
            Levy,D., Keating,B.J. and Zhu,X.
  CONSRTM   Asian Genetic Epidemiology Network Consortium
  TITLE     Genome-wide association analysis of blood-pressure traits in
            African-ancestry individuals reveals common associated genes in
            African and non-African populations
  JOURNAL   Am J Hum Genet 93 (3), 545-554 (2013)
   PUBMED   23972371
REFERENCE   8  (bases 1 to 1249)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 1249)
  AUTHORS   Baker,M.A., Krutskikh,A., Curry,B.J., Hetherington,L. and
            Aitken,R.J.
  TITLE     Identification of cytochrome-b5 reductase as the enzyme responsible
            for NADH-dependent lucigenin chemiluminescence in human spermatozoa
  JOURNAL   Biol Reprod 73 (2), 334-342 (2005)
   PUBMED   15858218
  REMARK    GeneRIF: CYB5R2 is a key enzyme involved in the mediation of
            NADH-induced redox activity in human spermatozoa.
REFERENCE   10 (bases 1 to 1249)
  AUTHORS   Zhu,H., Qiu,H., Yoon,H.W., Huang,S. and Bunn,H.F.
  TITLE     Identification of a cytochrome b-type NAD(P)H oxidoreductase
            ubiquitously expressed in human cells
  JOURNAL   Proc Natl Acad Sci U S A 96 (26), 14742-14747 (1999)
   PUBMED   10611283
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104237.2, CB149369.1 and
            AY665398.1.
            
            On Nov 22, 2018 this sequence version replaced NM_016229.4.
            
            Summary: The protein encoded by this gene belongs to the
            flavoprotein pyridine nucleotide cytochrome reductase family of
            proteins. Cytochrome b-type NAD(P)H oxidoreductases are implicated
            in many processes including cholesterol biosynthesis, fatty acid
            desaturation and elongation, and respiratory burst in neutrophils
            and macrophages. Cytochrome b5 reductases have soluble and
            membrane-bound forms that are the product of alternative splicing.
            In animal cells, the membrane-bound form binds to the endoplasmic
            reticulum, where it is a member of a fatty acid desaturation
            complex. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Nov 2014].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein
            (isoform 1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189661.53345.1,
                                           SRR5189667.1732.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2151119
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000299498.11/ ENSP00000299498.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-82                AC104237.2         78597-78678
            83-552              CB149369.1         47-516
            553-979             AY665398.1         405-831
            980-1249            AC104237.2         86724-86993
FEATURES             Location/Qualifiers
     source          1..1249
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..1249
                     /gene="CYB5R2"
                     /gene_synonym="B5R.2"
                     /note="cytochrome b5 reductase 2"
                     /db_xref="GeneID:51700"
                     /db_xref="HGNC:HGNC:24376"
                     /db_xref="MIM:608342"
     exon            1..82
                     /gene="CYB5R2"
                     /gene_synonym="B5R.2"
                     /inference="alignment:Splign:2.1.0"
     exon            83..226
                     /gene="CYB5R2"
                     /gene_synonym="B5R.2"
                     /inference="alignment:Splign:2.1.0"
     CDS             149..979
                     /gene="CYB5R2"
                     /gene_synonym="B5R.2"
                     /EC_number="1.6.2.2"
                     /note="isoform 1 is encoded by transcript variant 2;
                     cytochrome b5 reductase b5R.2; NADH-cytochrome b5
                     reductase 2"
                     /codon_start=1
                     /product="NADH-cytochrome b5 reductase 2 isoform 1"
                     /protein_id="NP_057313.2"
                     /db_xref="CCDS:CCDS7780.1"
                     /db_xref="GeneID:51700"
                     /db_xref="HGNC:HGNC:24376"
                     /db_xref="MIM:608342"
                     /translation="MNSRRREPITLQDPEAKYPLPLIEKEKISHNTRRFRFGLPSPDH
                     VLGLPVGNYVQLLAKIDNELVVRAYTPVSSDDDRGFVDLIIKIYFKNVHPQYPEGGKM
                     TQYLENMKIGETIFFRGPRGRLFYHGPGNLGIRPDQTSEPKKTLADHLGMIAGGTGIT
                     PMLQLIRHITKDPSDRTRMSLIFANQTEEDILVRKELEEIARTHPDQFNLWYTLDRPP
                     IGWKYSSGFVTADMIKEHLPPPAKSTLILVCGPPPLIQTAAHPNLEKLGYTQDMIFTY
                     "
     exon            227..299
                     /gene="CYB5R2"
                     /gene_synonym="B5R.2"
                     /inference="alignment:Splign:2.1.0"
     exon            300..406
                     /gene="CYB5R2"
                     /gene_synonym="B5R.2"
                     /inference="alignment:Splign:2.1.0"
     exon            407..536
                     /gene="CYB5R2"
                     /gene_synonym="B5R.2"
                     /inference="alignment:Splign:2.1.0"
     exon            537..620
                     /gene="CYB5R2"
                     /gene_synonym="B5R.2"
                     /inference="alignment:Splign:2.1.0"
     exon            621..706
                     /gene="CYB5R2"
                     /gene_synonym="B5R.2"
                     /inference="alignment:Splign:2.1.0"
     exon            707..806
                     /gene="CYB5R2"
                     /gene_synonym="B5R.2"
                     /inference="alignment:Splign:2.1.0"
     exon            807..1249
                     /gene="CYB5R2"
                     /gene_synonym="B5R.2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1229..1234
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYB5R2"
                     /gene_synonym="B5R.2"
                     /note="hexamer: AATAAA"
     polyA_site      1249
                     /gene="CYB5R2"
                     /gene_synonym="B5R.2"
                     /note="major polyA site"
ORIGIN      
        1 gagactccag tgacccggcg ggaggagagg caactttccc tgtcgggctt gagttgggag
       61 aggagcaggg cggccttgta gggacccgtc cctgctcctg accatcaccg tcactggggt
      121 cactgtgctc gtgttggtcc tgaagagcat gaactccagg aggagagagc caatcacctt
      181 acaggaccct gaagccaagt acccgctgcc cttgattgag aaagagaaaa tcagccacaa
      241 cacccggagg ttccgctttg gactgccttc gccggaccat gtcttagggc ttcctgtagg
      301 taactatgtc cagctcttgg caaaaatcga taatgaattg gtggtcaggg cttacacccc
      361 tgtctccagt gatgatgaca gaggctttgt ggacctaatt ataaagatct acttcaaaaa
      421 tgtacacccc caatatcctg aaggtgggaa gatgactcag tatttggaga acatgaaaat
      481 cggggagacc atcttttttc gagggccaag gggacgcttg ttttaccatg ggccagggaa
      541 tcttggaatc agaccagacc agacgagtga gcctaaaaaa acactggccg atcacctggg
      601 aatgattgct gggggcacag gcatcacacc catgttgcag ctcattcgcc acatcaccaa
      661 ggaccccagt gacaggacca ggatgtccct catctttgcc aaccagacag aggaggatat
      721 cttggtcaga aaagagcttg aagaaattgc caggactcac ccagaccagt tcaacctgtg
      781 gtacaccctg gacaggcctc ccattggctg gaagtacagc tcaggcttcg ttactgccga
      841 catgatcaag gagcaccttc ctcctccagc gaagtccacg ctcatcctgg tgtgtggccc
      901 gccaccacta atccagacgg cggctcaccc taacctggag aagctgggtt atacccagga
      961 catgattttc acctactaac acctccacgt gctcagcaat tttgcatgtc ccttttcatc
     1021 tgtttcagag taagttcaat ttcaccacgg taaactggga tgttttcaaa agtgccttgc
     1081 catgtacctt cgcgcacaca ctggttctcc tcttttgggt gtgggcctaa caaaaagggc
     1141 tcaaggggct ggagactggc tgctggggcc tccttgcttg gaggctggaa agagctccat
     1201 ttcagtatct ttctccgtgg ttttgtgaaa taaactcaag tacaaagca
//
