LOCUS       NM_007246               3185 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens kelch like family member 2 (KLHL2), transcript variant
            1, mRNA.
ACCESSION   NM_007246
VERSION     NM_007246.4
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 3185)
  AUTHORS   Swaney,D.L., Ramms,D.J., Wang,Z., Park,J., Goto,Y., Soucheray,M.,
            Bhola,N., Kim,K., Zheng,F., Zeng,Y., McGregor,M., Herrington,K.A.,
            O'Keefe,R., Jin,N., VanLandingham,N.K., Foussard,H., Von Dollen,J.,
            Bouhaddou,M., Jimenez-Morales,D., Obernier,K., Kreisberg,J.F.,
            Kim,M., Johnson,D.E., Jura,N., Grandis,J.R., Gutkind,J.S.,
            Ideker,T. and Krogan,N.J.
  TITLE     A protein network map of head and neck cancer reveals PIK3CA mutant
            drug sensitivity
  JOURNAL   Science 374 (6563), eabf2911 (2021)
   PUBMED   34591642
REFERENCE   2  (bases 1 to 3185)
  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 3185)
  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 3185)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3185)
  AUTHORS   Mena,E.L., Kjolby,R.A.S., Saxton,R.A., Werner,A., Lew,B.G.,
            Boyle,J.M., Harland,R. and Rape,M.
  TITLE     Dimerization quality control ensures neuronal development and
            survival
  JOURNAL   Science 362 (6411) (2018)
   PUBMED   30190310
REFERENCE   6  (bases 1 to 3185)
  AUTHORS   Yu,H., Tardivo,L., Tam,S., Weiner,E., Gebreab,F., Fan,C.,
            Svrzikapa,N., Hirozane-Kishikawa,T., Rietman,E., Yang,X.,
            Sahalie,J., Salehi-Ashtiani,K., Hao,T., Cusick,M.E., Hill,D.E.,
            Roth,F.P., Braun,P. and Vidal,M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   7  (bases 1 to 3185)
  AUTHORS   Bennett,E.J., Rush,J., Gygi,S.P. and Harper,J.W.
  TITLE     Dynamics of cullin-RING ubiquitin ligase network revealed by
            systematic quantitative proteomics
  JOURNAL   Cell 143 (6), 951-965 (2010)
   PUBMED   21145461
REFERENCE   8  (bases 1 to 3185)
  AUTHORS   Williams,S.K., Spence,H.J., Rodgers,R.R., Ozanne,B.W.,
            Fitzgerald,U. and Barnett,S.C.
  TITLE     Role of Mayven, a kelch-related protein in oligodendrocyte process
            formation
  JOURNAL   J Neurosci Res 81 (5), 622-631 (2005)
   PUBMED   16035103
REFERENCE   9  (bases 1 to 3185)
  AUTHORS   Bu,X., Avraham,H.K., Li,X., Lim,B., Jiang,S., Fu,Y., Pestell,R.G.
            and Avraham,S.
  TITLE     Mayven induces c-Jun expression and cyclin D1 activation in breast
            cancer cells
  JOURNAL   Oncogene 24 (14), 2398-2409 (2005)
   PUBMED   15735724
  REMARK    GeneRIF: overexpression of Mayven may promote tumor growth through
            c-Jun and cyclin D1
REFERENCE   10 (bases 1 to 3185)
  AUTHORS   Soltysik-Espanola,M., Rogers,R.A., Jiang,S., Kim,T.A., Gaedigk,R.,
            White,R.A., Avraham,H. and Avraham,S.
  TITLE     Characterization of Mayven, a novel actin-binding protein
            predominantly expressed in brain
  JOURNAL   Mol Biol Cell 10 (7), 2361-2375 (1999)
   PUBMED   10397770
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC055120.5, AL541403.3, BC036468.2, BC022503.1 and AI814691.1.
            
            On Nov 22, 2018 this sequence version replaced NM_007246.3.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes isoform 1.
            
            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 :: BC022503.1, SRR1660809.13095.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000226725.11/ ENSP00000226725.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-57                AC055120.5         107686-107742
            58-253              AL541403.3         1-196
            254-1339            BC036468.2         138-1223
            1340-1340           BC022503.1         1265-1265
            1341-2799           BC036468.2         1225-2683
            2800-3185           AI814691.1         11-396              c
FEATURES             Location/Qualifiers
     source          1..3185
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q32.3"
     gene            1..3185
                     /gene="KLHL2"
                     /gene_synonym="ABP-KELCH; MAV; MAYVEN"
                     /note="kelch like family member 2"
                     /db_xref="GeneID:11275"
                     /db_xref="HGNC:HGNC:6353"
                     /db_xref="MIM:605774"
     exon            1..342
                     /gene="KLHL2"
                     /gene_synonym="ABP-KELCH; MAV; MAYVEN"
                     /inference="alignment:Splign:2.1.0"
     CDS             317..2098
                     /gene="KLHL2"
                     /gene_synonym="ABP-KELCH; MAV; MAYVEN"
                     /note="isoform 1 is encoded by transcript variant 1;
                     kelch-like protein 2; actin-binding protein Mayven;
                     kelch-like 2, Mayven"
                     /codon_start=1
                     /product="kelch-like protein 2 isoform 1"
                     /protein_id="NP_009177.3"
                     /db_xref="CCDS:CCDS34094.1"
                     /db_xref="GeneID:11275"
                     /db_xref="HGNC:HGNC:6353"
                     /db_xref="MIM:605774"
                     /translation="METPPLPPACTKQGHQKPLDSKDDNTEKHCPVTVNPWHMKKAFK
                     VMNELRSQNLLCDVTIVAEDMEISAHRVVLAACSPYFHAMFTGEMSESRAKRVRIKEV
                     DGWTLRMLIDYVYTAEIQVTEENVQVLLPAAGLLQLQDVKKTCCEFLESQLHPVNCLG
                     IRAFADMHACTDLLNKANTYAEQHFADVVLSEEFLNLGIEQVCSLISSDKLTISSEEK
                     VFEAVIAWVNHDKDVRQEFMARLMEHVRLPLLPREYLVQRVEEEALVKNSSACKDYLI
                     EAMKYHLLPTEQRILMKSVRTRLRTPMNLPKLMVVVGGQAPKAIRSVECYDFKEERWH
                     QVAELPSRRCRAGMVYMAGLVFAVGGFNGSLRVRTVDSYDPVKDQWTSVANMRDRRST
                     LGAAVLNGLLYAVGGFDGSTGLSSVEAYNIKSNEWFHVAPMNTRRSSVGVGVVGGLLY
                     AVGGYDGASRQCLSTVECYNATTNEWTYIAEMSTRRSGAGVGVLNNLLYAVGGHDGPL
                     VRKSVEVYDPTTNAWRQVADMNMCRRNAGVCAVNGLLYVVGGDDGSCNLASVEYYNPT
                     TDKWTVVSSCMSTGRSYAGVTVIDKPL"
     exon            343..468
                     /gene="KLHL2"
                     /gene_synonym="ABP-KELCH; MAV; MAYVEN"
                     /inference="alignment:Splign:2.1.0"
     exon            469..575
                     /gene="KLHL2"
                     /gene_synonym="ABP-KELCH; MAV; MAYVEN"
                     /inference="alignment:Splign:2.1.0"
     exon            576..697
                     /gene="KLHL2"
                     /gene_synonym="ABP-KELCH; MAV; MAYVEN"
                     /inference="alignment:Splign:2.1.0"
     exon            698..860
                     /gene="KLHL2"
                     /gene_synonym="ABP-KELCH; MAV; MAYVEN"
                     /inference="alignment:Splign:2.1.0"
     exon            861..970
                     /gene="KLHL2"
                     /gene_synonym="ABP-KELCH; MAV; MAYVEN"
                     /inference="alignment:Splign:2.1.0"
     exon            971..1087
                     /gene="KLHL2"
                     /gene_synonym="ABP-KELCH; MAV; MAYVEN"
                     /inference="alignment:Splign:2.1.0"
     exon            1088..1237
                     /gene="KLHL2"
                     /gene_synonym="ABP-KELCH; MAV; MAYVEN"
                     /inference="alignment:Splign:2.1.0"
     exon            1238..1355
                     /gene="KLHL2"
                     /gene_synonym="ABP-KELCH; MAV; MAYVEN"
                     /inference="alignment:Splign:2.1.0"
     exon            1356..1553
                     /gene="KLHL2"
                     /gene_synonym="ABP-KELCH; MAV; MAYVEN"
                     /inference="alignment:Splign:2.1.0"
     exon            1554..1655
                     /gene="KLHL2"
                     /gene_synonym="ABP-KELCH; MAV; MAYVEN"
                     /inference="alignment:Splign:2.1.0"
     exon            1656..1784
                     /gene="KLHL2"
                     /gene_synonym="ABP-KELCH; MAV; MAYVEN"
                     /inference="alignment:Splign:2.1.0"
     exon            1785..1925
                     /gene="KLHL2"
                     /gene_synonym="ABP-KELCH; MAV; MAYVEN"
                     /inference="alignment:Splign:2.1.0"
     exon            1926..2069
                     /gene="KLHL2"
                     /gene_synonym="ABP-KELCH; MAV; MAYVEN"
                     /inference="alignment:Splign:2.1.0"
     exon            2070..3185
                     /gene="KLHL2"
                     /gene_synonym="ABP-KELCH; MAV; MAYVEN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3167..3172
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLHL2"
                     /gene_synonym="ABP-KELCH; MAV; MAYVEN"
                     /note="hexamer: AATAAA"
     polyA_site      3185
                     /gene="KLHL2"
                     /gene_synonym="ABP-KELCH; MAV; MAYVEN"
                     /note="major polyA site"
ORIGIN      
        1 agtcccgtca cagcgtcggc gccggccggg gccgaacccg gaagtggccg agcccgcgcg
       61 cccgccggtc ccgtcgccgc cgccccgcac tcgggcgagc gcgggagccg cgcagtagac
      121 ggagcgcgcc cggccgagcg ggccatggcc gcgggggccg ccgccgcagg tggtggcgcg
      181 cggtgaggag agcgcggcgc cccctccggg gcggatggaa cgcggctcgg cgggcgggca
      241 gtgccggcgt ccgcggctgg aatggtgctg gctgtgttgg tcggtgcctg cgttctgaag
      301 cccgagagga gccacaatgg agacgccgcc gctgcctccc gcatgcacaa agcagggtca
      361 tcagaagcct ctcgattcaa aagatgataa taccgaaaaa cactgcccag tgacagtgaa
      421 tccttggcat atgaagaaag ctttcaaagt catgaacgaa ttaagaagtc aaaatttgct
      481 gtgcgatgtc acaattgtgg cagaagacat ggaaatttct gctcatagag tggtgctggc
      541 cgcctgtagt ccttattttc atgccatgtt tacaggtgag atgagtgaga gccgagcaaa
      601 gagagttaga ataaaagagg tagatggctg gaccctgagg atgctaattg attatgttta
      661 cactgcagaa attcaggtta cagaagaaaa tgtacaggta cttctcccag cagctggtct
      721 cttacagtta caggatgtga agaagacttg ttgtgaattt ttggaatccc agcttcaccc
      781 tgtcaactgc ttaggaatcc gggcttttgc tgatatgcat gcatgtaccg accttctgaa
      841 caaggccaac acctatgcag agcaacattt tgcagatgtt gtacttagtg aagaatttct
      901 caatcttggc atcgaacaag tgtgcagctt aatctcaagt gacaaactta ccatttcttc
      961 agaagagaag gtatttgaag cagtaatagc atgggtgaac catgacaagg atgtgaggca
     1021 agagtttatg gcccgactga tggaacatgt acggttacct ttgcttcctc gggaatattt
     1081 agttcagagg gttgaagagg aagcattggt caagaatagc agtgcttgca aagattacct
     1141 cattgaagca atgaagtacc atttgctgcc aacagagcag cgtatattaa tgaagagtgt
     1201 ccggacccgg ctgaggacac ccatgaacct tcccaaattg atggtggtgg ttgggggcca
     1261 agcaccaaag gctatccgga gtgtggaatg ctatgacttt aaagaagaaa ggtggcacca
     1321 agtagcagag ttgccttcca ggaggtgcag ggcaggcatg gtctacatgg ctggacttgt
     1381 ttttgctgtt ggtggcttta atggctcatt aagagttcgc actgtagatt cctacgaccc
     1441 tgtgaaggac cagtggacca gcgttgctaa catgagagac cggagaagca ctttgggagc
     1501 tgctgtgtta aatggattat tatacgctgt gggaggcttt gatgggagta caggtttgtc
     1561 atctgtggaa gcatacaaca taaagtctaa tgagtggttt catgtagctc ccatgaatac
     1621 aaggaggagc agtgttggtg tgggtgttgt tggaggtttg ctctatgctg taggaggtta
     1681 tgatggagca tcacgtcagt gtcttagcac agtagaatgc tataatgcta caacaaatga
     1741 gtggacctat atagcagaaa tgagcaccag gcggagtgga gcaggtgttg gtgtgttaaa
     1801 caatttattg tatgctgtag gaggtcatga tggcccttta gtacgaaaaa gtgttgaagt
     1861 atatgatccc accactaacg catggagaca ggttgcagat atgaacatgt gcagaagaaa
     1921 tgcaggagtt tgtgcagtta atggtctgtt atatgttgtt ggaggggatg atggttcctg
     1981 taacttggcg tcagtagaat attataaccc aacaaccgat aaatggacag ttgtgtcatc
     2041 gtgtatgagc acagggagaa gttatgcagg ggtcacagtt attgataaac cattatgagc
     2101 ctgaaggaca ttttcagcat atttatacat gagaaacagc cttcaacaag tatttgtgaa
     2161 gtgactgaga atctagcact tctccacttg tagctgcact ttaagtctca gcagaagata
     2221 cgatcgtctg cctttatagg cctcagatac tgaagattat ttttggtaga agcaccgtgt
     2281 aggctttttc tgcaatgagc agcagctgac tgaattttca taagaaactt ggactgcagg
     2341 acttaatctg tagtctttag acaacagttg ctttcataaa gactagttct tatcaacctt
     2401 gaatgactac agattatttt gtgaaggagg atgaagtaat gtgtgttctt gtaaaattaa
     2461 attttatctt tatttcttct aaaaatctgt ataccaggaa ctgaaaatct ttgaacagat
     2521 attaaaatct acgtaagtat acaaactagt tgagggatac actgtttgct tttataaaat
     2581 aactttgatt acatgaatat aataaattat gtgcatataa atgtgtgtct atatgctttc
     2641 ctttaaatat gtttgaaaag atgtttgaaa cttgattata ctatttataa ttggcacagt
     2701 actttgaatt atgccagtac tacattgtaa aacagagttg tattttttga tatttaacaa
     2761 tgcttaacac tttaaatgcc acttctgagg aatggacctg gtgtaacaca cttgaatatg
     2821 tgtgatgcca aactttttaa aatacaatat aaattatgct tatttattat tttctttagt
     2881 ttaatcttgg tcatgttttg gtgtgtattt ttaatttttt tcttaaatta acactttggc
     2941 atgaacatta ctgcaggttt ttgatgaata taatgaatgt atggaattca attgaatttg
     3001 catggtcttc ggaatttttt ctgtgtgtat aaatttagct gctattaaca gaagagagaa
     3061 ctttctgtga gtagccatgt gtgttgatca gatacagttt ttctgagatc ttcaattaat
     3121 ctcactttaa aaatgaccaa aacatgtctt tcttgaatta actttgaata aaagtttgta
     3181 tatta
//
