LOCUS       NM_005779               4977 bp    mRNA    linear   PRI 23-JUL-2024
DEFINITION  Homo sapiens LHFPL tetraspan subfamily member 2 (LHFPL2), mRNA.
ACCESSION   NM_005779
VERSION     NM_005779.3
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 4977)
  AUTHORS   Gong,X., Liu,Y., Zhang,Q., Liang,K., Wei,J. and Du,H.
  TITLE     LHFPL2 Serves as a Potential Biomarker for M2 Polarization of
            Macrophages in Renal Cell Carcinoma
  JOURNAL   Int J Mol Sci 25 (12), 6707 (2024)
   PUBMED   38928412
  REMARK    GeneRIF: LHFPL2 Serves as a Potential Biomarker for M2 Polarization
            of Macrophages in Renal Cell Carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4977)
  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 4977)
  AUTHORS   Hill-Burns,E.M., Ross,O.A., Wissemann,W.T., Soto-Ortolaza,A.I.,
            Zareparsi,S., Siuda,J., Lynch,T., Wszolek,Z.K., Silburn,P.A.,
            Mellick,G.D., Ritz,B., Scherzer,C.R., Zabetian,C.P., Factor,S.A.,
            Breheny,P.J. and Payami,H.
  TITLE     Identification of genetic modifiers of age-at-onset for familial
            Parkinson's disease
  JOURNAL   Hum Mol Genet 25 (17), 3849-3862 (2016)
   PUBMED   27402877
  REMARK    GeneRIF: Results report evidence for the existence of variants in
            LHFPL2 and TPM1 with low allele frequencies and large effects on
            age-at-onset of familial Parkinson's disease.
REFERENCE   4  (bases 1 to 4977)
  AUTHORS   Cornelis,M.C., Fornage,M., Foy,M., Xun,P., Gladyshev,V.N.,
            Morris,S., Chasman,D.I., Hu,F.B., Rimm,E.B., Kraft,P., Jordan,J.M.,
            Mozaffarian,D. and He,K.
  TITLE     Genome-wide association study of selenium concentrations
  JOURNAL   Hum Mol Genet 24 (5), 1469-1477 (2015)
   PUBMED   25343990
REFERENCE   5  (bases 1 to 4977)
  AUTHORS   Potkin,S.G., Guffanti,G., Lakatos,A., Turner,J.A., Kruggel,F.,
            Fallon,J.H., Saykin,A.J., Orro,A., Lupoli,S., Salvi,E., Weiner,M.
            and Macciardi,F.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative
  TITLE     Hippocampal atrophy as a quantitative trait in a genome-wide
            association study identifying novel susceptibility genes for
            Alzheimer's disease
  JOURNAL   PLoS One 4 (8), e6501 (2009)
   PUBMED   19668339
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4977)
  AUTHORS   Longo-Guess,C.M., Gagnon,L.H., Cook,S.A., Wu,J., Zheng,Q.Y. and
            Johnson,K.R.
  TITLE     A missense mutation in the previously undescribed gene Tmhs
            underlies deafness in hurry-scurry (hscy) mice
  JOURNAL   Proc Natl Acad Sci U S A 102 (22), 7894-7899 (2005)
   PUBMED   15905332
  REMARK    GeneRIF: The authors present an overview of the LHFP gene family in
            mouse and humans
REFERENCE   7  (bases 1 to 4977)
  AUTHORS   Petit,M.M., Schoenmakers,E.F., Huysmans,C., Geurts,J.M., Mandahl,N.
            and Van de Ven,W.J.
  TITLE     LHFP, a novel translocation partner gene of HMGIC in a lipoma, is a
            member of a new family of LHFP-like genes
  JOURNAL   Genomics 57 (3), 438-441 (1999)
   PUBMED   10329012
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA094988.1, CN314535.1 and
            AY309920.1.
            
            On Nov 22, 2018 this sequence version replaced NM_005779.2.
            
            Summary: This gene is a member of the lipoma HMGIC fusion partner
            (LHFP) gene family, which is a subset of the superfamily of
            tetraspan transmembrane protein encoding genes. Mutations in one
            LHFP-like gene result in deafness in humans and mice, and a second
            LHFP-like gene is fused to a high-mobility group gene in a
            translocation-associated lipoma. Alternatively spliced transcript
            variants have been found, but their biological validity has not
            been determined. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.54477.1,
                                           SRR1660803.50360.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380345.7/ ENSP00000369702.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-546               DA094988.1         4-549
            547-548             CN314535.1         424-425
            549-4977            AY309920.1         1-4429
FEATURES             Location/Qualifiers
     source          1..4977
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q14.1"
     gene            1..4977
                     /gene="LHFPL2"
                     /note="LHFPL tetraspan subfamily member 2"
                     /db_xref="GeneID:10184"
                     /db_xref="HGNC:HGNC:6588"
                     /db_xref="MIM:609718"
     exon            1..274
                     /gene="LHFPL2"
                     /inference="alignment:Splign:2.1.0"
     exon            275..379
                     /gene="LHFPL2"
                     /inference="alignment:Splign:2.1.0"
     exon            380..438
                     /gene="LHFPL2"
                     /inference="alignment:Splign:2.1.0"
     exon            439..1053
                     /gene="LHFPL2"
                     /inference="alignment:Splign:2.1.0"
     CDS             624..1310
                     /gene="LHFPL2"
                     /note="LHFP-like protein 2; lipoma HMGIC fusion
                     partner-like 2 protein"
                     /codon_start=1
                     /product="LHFPL tetraspan subfamily member 2 protein"
                     /protein_id="NP_005770.1"
                     /db_xref="CCDS:CCDS4042.1"
                     /db_xref="GeneID:10184"
                     /db_xref="HGNC:HGNC:6588"
                     /db_xref="MIM:609718"
                     /translation="MCHVIVTCRSMLWTLLSIVVAFAELIAFMSADWLIGKARSRGGV
                     EPAGPGGGSPEPYHPTLGIYARCIRNPGVQHFQRDTLCGPYAESFGEIASGFWQATAI
                     FLAVGIFILCMVALVSVFTMCVQSIMKKSIFNVCGLLQGIAGLFLILGLILYPAGWGC
                     QKAIDYCGHYASAYKPGDCSLGWAFYTAIGGTVLTFICAVFSAQAEIATSSDKVQEEI
                     EEGKNLICLL"
     exon            1054..4977
                     /gene="LHFPL2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4955..4960
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LHFPL2"
                     /note="hexamer: ATTAAA"
     polyA_site      4977
                     /gene="LHFPL2"
                     /note="major polyA site"
ORIGIN      
        1 ctccctctcc ccgagtgcta gcccgggcgg ccgccgagct tggcgctctc tcgcctcgct
       61 gcctcctccc ccgcgccgcg gaccctctcc cctcccttgc gttgcccccc tctcccgccg
      121 cctcctcccg ctctcctctc gctctcctcc cgcctccttc ttccaggcgc ggccagcggg
      181 ggcaagagcg aggtggctgc gaggaggcgt cactgaaagc cctgacttgg ggaaggctgc
      241 gggctcggag ccggagacgc cgagctgggg ccgggtgagt tgggaatcag actcttgagt
      301 tgacagctgg cctatggttt ctgcattttg ttaagaagca cctcatgcaa gcgagggacc
      361 tgggactgct cacagccagg tggcattttt ctgaagttgt tcattaagac ttcccagcat
      421 tcctacagat ataaataggt gaggccgcag gcggtgctct gggtccggga gcgctgtccc
      481 cagcatgaac gcggccggcg gcgggagtga atgactgcag ctgcgacttc cttcccgggc
      541 cgcccgagcc tccttcccca ccgactttct tgttttgatt aactccgtgg actcctgact
      601 ctttcttcgc ccggaacatc aatatgtgtc atgtcattgt cacctgtcgc tcgatgctct
      661 ggaccttgct gagtattgtg gtggcttttg ccgagctcat tgccttcatg agtgcagact
      721 ggctgatcgg gaaagcgagg agccgcggcg gcgtggagcc ggcgggcccg ggcgggggct
      781 ccccggagcc ctaccacccc accctgggca tctacgcccg ctgcatccgg aacccagggg
      841 tgcagcactt ccagcgggac acgctgtgcg ggccctacgc cgagagcttc ggcgagatcg
      901 ccagcggctt ctggcaggcc acagctattt tcctggctgt gggaatcttt attctctgca
      961 tggtggcctt ggtgtccgtc ttcaccatgt gtgtacagag catcatgaag aaaagcatct
     1021 tcaatgtctg tgggctgttg caaggaattg caggtctatt ccttatcctc ggtttgatac
     1081 tctaccctgc tggctggggt tgccagaagg ccatagacta ctgtggacat tatgcatctg
     1141 cctacaaacc tggagactgc tccttgggct gggcctttta taccgccatt gggggcacag
     1201 tcctcacttt catctgtgct gtcttctctg cacaagcaga aattgcaacc tctagtgaca
     1261 aagtacagga agaaattgaa gaggggaaaa atctgatctg cctcctttag tttggaagag
     1321 acaatgccat tttctccctt gagtaatctt gtgaaacagt ccacagtttc atcatttgag
     1381 tcaagtggag aactaacctt tacctaccaa agccacgttc cacggcccga ggcttaaaca
     1441 ggaccaatga gaggccacat ccagctacgc aaagttactg gacatgcggt ctgcagtgca
     1501 cattataagg aatggaacat gaaaatagta tataatccta gacctggagt tgccaagttc
     1561 tgtcagactc catctccccc aggttcaatg aaggataata atctaaatca ttagggcagc
     1621 agtttctctg gtaacggaag agaccgtccg ccagatctgc aggctgtttc tgctccaaca
     1681 ctgcttgctt gtgagcatct ctgcctcaga atggggtttt gggttggagt tcttgttttc
     1741 ctctgttctt tcaagttgtc tccaacgaac agaaaactat aaacttactg gggacaggat
     1801 gtgtgctaaa gggcacagca agacactgtc ttttgcttag ctgaccaaag gggtcagcag
     1861 ggatggcgtg gagtcatgct gtggaactta ttctaggctg aatcctaggg taaggtggat
     1921 caactgaact gtcactccag agattttaga aatttgagta aagaaacaat aaggacctat
     1981 acaatcatat gagaacaaaa atatgaaatc ttgctagtga agacgtattt tttcttcttc
     2041 ccagcagcca ggctagcacc agttctggcc cagtctcctc ttcttctgga gatcacatgt
     2101 ttttcttcta aggttaggat tgtgctttga ctgcgaaagg aaacctcact gtttcctcct
     2161 tccagggact gaggtctcca agctagctgt ggcttatgca gatgttcact gggaggacct
     2221 gccagaatct cggcacttgg ggggagacct ttactcccag tttggtgacc atgctgtagt
     2281 cagctctatt tccaatcccg acagtagcag aatggcattc tacaacaaaa agaagctagt
     2341 tatgggagtt aagtttttgt agttactggt gttgatcctg aaagcagact gagataacat
     2401 taaattgctg caactgaaga actgcagcca agaccttaat tccaggaaag cacagaggac
     2461 aaagttaatt caaaaagagg cgctagatca aggtcacagc actgcctaca cctgtttaca
     2521 aaaagaatca aataccacta tgaataagga ttcaggggtt tttaatctac tttccataaa
     2581 ttaccaatat cactgattca ggaagatagt atctcagaat gaccagagca gcacagaaac
     2641 aagctactct gacattatgg gagcttcaaa attgtatcat gatacagaaa cactccttag
     2701 cactttaaga aagtgagatg gaactgccag atttctggaa ggagaaaaag tgtaggtatt
     2761 tgggttcatt aatctgctca cttgaggact ttgttttgaa aaagtacctt ctgtggacaa
     2821 ggtattgtgc taccagctat acaaccctga cttcagagtt tgcaaccttg ccctgagtga
     2881 atcatgttaa agctgtctga gtctaaagca ccgtatcttg gtgcagaaca gataattata
     2941 cagagatgga atgggacaac cgcagtttta ctacattctg gtgtttggcc tatatgagaa
     3001 accatcttct cacagattaa gggctaaggg caaaaggggt gggaggtgtg gaactagcct
     3061 taatgagttt cccattcctg aaccaaaatt caaagtgagt gagatgtaaa tcctgtgatt
     3121 ttggtgaaga aaaaaacggg tatcttcata gcagcctagg aaaccttaac catatctcta
     3181 acaccacaca gaaagaggct ggaggagcca ctggacaaag cttctgtctc tgtgtgtaca
     3241 tttataatgt tctaaccaag tctcaaacct tgatgaaaaa cacaaaattt ttccataaac
     3301 ttatcagaag actcactttt ctttctttct tggatagaga aaccattttc tgacactagg
     3361 tttacaatct cagtgtcctt acaagttaag tcctaagctc acaggatcct ccgagcatgt
     3421 ccatcacctg ctctttggct aaggtggcag tgtacctcta gatcaacctg ggaacagtca
     3481 caagggagtg tgacttcttg gccataataa actcactcga tagtgtttat gttattaatc
     3541 tgaatgcaac agaagacaaa agcacaggca tgcacacaca cagaacccca aaccactaaa
     3601 aactacctaa acactgactt agtaaatagt aaaaaggtaa tgttgggact tttaaacctt
     3661 gaatccatta gccaggcttg ggatgaaagg accatctaaa atcatgctag tctaaaccat
     3721 gctcttccac acagctgttt aaaaaccact gggtatgagg aatatgctag aaagaaatgt
     3781 taaaaataga ttgttggctc acacttattt ttctaataaa taggaccatt attactacca
     3841 ggaaagtctt atttattttg cctgaaattg gcttaaagaa agtctcatga cgggatggga
     3901 tgggctgcgc ttctcaatga actctgaggc agaaatattt gccttggatt ctgtggattc
     3961 tttaaacctg tgtgctaata attcaaacaa tgttgcatta attgtataag ggtttttgta
     4021 tagttttcaa acatctgtgg tgtaatgatc tttgttaaac atatattctg taaagtgcca
     4081 tagtcttttt ttatgtgtag catatttaaa aatatatatg tatattatac atacacaagt
     4141 ttgtgtgaaa gatgtgcaat aacaaaggtg tatgtatgtt ttgttgtttt gttttggaaa
     4201 ctggacagga gtcaaaacag ggatgtttgt ttctgttttg gcaaggagag ttccacattt
     4261 ttgccttcat ggcttattca gtaacccata attttaatgc tacacaaatc ttatgtgaag
     4321 aaaagactgg tatgaaatca ttttttcctg ggtctaaaat aatcgctagt gttatgtcaa
     4381 agttaagccc gcacgccagg cccagttaat gctagtcttt catgtgaaat gtgaagctgc
     4441 catgttgcct tttctcttag taggataact agtagctggt acataatcac tgaggagcta
     4501 tttcttaaca tgcttttata gaccatgcta atgctagacc agtatttaag ggctaatctc
     4561 acacctcctt agctgtaaga gtctggctta gaacagacct ctctgtgcaa taacttgtgg
     4621 ccactggaaa tccctgggcc ggcatttgta ttggggttgc aatgactccc aagggccaaa
     4681 agagttaaag gcacgactgg gatttcttct gagactgtgg tgaaactcct tccaaggctg
     4741 agggggtcag taggtgctct ggagggactc ggcaccactt gatattcaac agccacttga
     4801 gccaaatata aaattgtatt tacagctgat ggactcaatt tgagccttca aacttgtagt
     4861 tatcctatta tattgtaaac taatacattg tctagcattg atttggttcc tgtgcatatg
     4921 tattttcact atgtgctccc ctccccagat cttaattaaa ccagattttg caattca
//
