LOCUS       NM_001161748             876 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens lens intrinsic membrane protein 2 (LIM2), transcript
            variant 2, mRNA.
ACCESSION   NM_001161748
VERSION     NM_001161748.2
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 876)
  AUTHORS   Goyal,S., Singh,R., Singh,J.R. and Vanita,V.
  TITLE     Novel and known variants in GJA3 and LIM2 in congenital cataract
            families from North India
  JOURNAL   BMC Genomics 25 (1), 31 (2024)
   PUBMED   38178039
  REMARK    GeneRIF: Novel and known variants in GJA3 and LIM2 in congenital
            cataract families from North India.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 876)
  AUTHORS   Berry,V., Fujinami,K., Mochizuki,K., Iwata,T., Pontikos,N.,
            Quinlan,R.A. and Michaelides,M.
  TITLE     A recurrent variant in LIM2 causes an isolated congenital
            sutural/lamellar cataract in a Japanese family
  JOURNAL   Ophthalmic Genet 43 (5), 622-626 (2022)
   PUBMED   35736209
  REMARK    GeneRIF: A recurrent variant in LIM2 causes an isolated congenital
            sutural/lamellar cataract in a Japanese family.
REFERENCE   3  (bases 1 to 876)
  AUTHORS   Berry,V., Pontikos,N., Dudakova,L., Moore,A.T., Quinlan,R.,
            Liskova,P. and Michaelides,M.
  TITLE     A novel missense mutation in LIM2 causing isolated autosomal
            dominant congenital cataract
  JOURNAL   Ophthalmic Genet 41 (2), 131-134 (2020)
   PUBMED   32202185
  REMARK    GeneRIF: A novel missense mutation in LIM2 causing isolated
            autosomal dominant congenital cataract.
REFERENCE   4  (bases 1 to 876)
  AUTHORS   Irum,B., Khan,S.Y., Ali,M., Kaul,H., Kabir,F., Rauf,B., Fatima,F.,
            Nadeem,R., Khan,A.O., Al Obaisi,S., Naeem,M.A., Nasir,I.A.,
            Khan,S.N., Husnain,T., Riazuddin,S., Akram,J., Eghrari,A.O. and
            Riazuddin,S.A.
  TITLE     Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital
            Cataracts
  JOURNAL   PLoS One 11 (11), e0162620 (2016)
   PUBMED   27814360
  REMARK    GeneRIF: A novel missense mutation in LIM2 is responsible for
            autosomal recessive congenital cataracts.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 876)
  AUTHORS   Chograni,M., Chaabouni,M., Maazoul,F., Bouzid,H., Kraiem,A. and
            Chaabouni,H.B.
  TITLE     Absence of mutations in four genes encoding for congenital cataract
            and expressed in the human brain in Tunisian families with cataract
            and mental retardation
  JOURNAL   BMC Ophthalmol 11, 35 (2011)
   PUBMED   22103961
  REMARK    GeneRIF: we report the absence of mutations in all studied genes in
            four families with phenotypes associating cataract, mental
            retardation and microcephaly.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 876)
  AUTHORS   Kerscher,S., Church,R.L., Boyd,Y. and Lyon,M.F.
  TITLE     Mapping of four mouse genes encoding eye lens-specific structural,
            gap junction, and integral membrane proteins: Cryba1 (crystallin
            beta A3/A1), Crybb2 (crystallin beta B2), Gja8 (MP70), and Lim2
            (MP19)
  JOURNAL   Genomics 29 (2), 445-450 (1995)
   PUBMED   8666393
REFERENCE   7  (bases 1 to 876)
  AUTHORS   Lieuallen,K., Christensen,M., Brandriff,B., Church,R., Wang,J. and
            Lennon,G.
  TITLE     Assignment of the human lens fiber cell MP19 gene (LIM2) to
            chromosome 19q13.4, and adjacent to ETFB
  JOURNAL   Somat Cell Mol Genet 20 (1), 67-69 (1994)
   PUBMED   8197479
REFERENCE   8  (bases 1 to 876)
  AUTHORS   Church,R.L. and Wang,J.H.
  TITLE     The human lens fiber-cell intrinsic membrane protein MP19 gene:
            isolation and sequence analysis
  JOURNAL   Curr Eye Res 12 (12), 1057-1065 (1993)
   PUBMED   8137630
REFERENCE   9  (bases 1 to 876)
  AUTHORS   Church,R.L. and Wang,J.
  TITLE     Assignment of the lens intrinsic membrane protein MP19 structural
            gene to human chromosome 19
  JOURNAL   Curr Eye Res 11 (5), 421-424 (1992)
   PUBMED   1606837
REFERENCE   10 (bases 1 to 876)
  AUTHORS   Louis,C.F., Hur,K.C., Galvan,A.C., TenBroek,E.M., Jarvis,L.J.,
            Eccleston,E.D. and Howard,J.B.
  TITLE     Identification of an 18,000-dalton protein in mammalian lens fiber
            cell membranes
  JOURNAL   J Biol Chem 264 (33), 19967-19973 (1989)
   PUBMED   2584203
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008750.9, CD675859.1,
            AF340020.1 and BU734982.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001161748.1.
            
            Summary: This gene encodes an eye lens-specific protein found at
            the junctions of lens fiber cells, where it may contribute to cell
            junctional organization. It acts as a receptor for calmodulin, and
            may play an important role in both lens development and
            cataractogenesis. Mutations in this gene have been associated with
            cataract formation. Alternatively spliced transcript variants
            encoding different isoforms have been found for this gene.[provided
            by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (2) uses an alternate, in-frame
            donor splice site at the 5' coding exon compared to variant 1. This
            results in a shorter isoform (2) missing a 42 aa protein segment
            compared to 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 :: AF340020.1, CD675859.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2163105 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000596399.2/ ENSP00000472090.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                AC008750.9         60907-60924         c
            19-488              CD675859.1         1-470
            489-875             AF340020.1         469-855
            876-876             BU734982.1         18-18               c
FEATURES             Location/Qualifiers
     source          1..876
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.41"
     gene            1..876
                     /gene="LIM2"
                     /gene_synonym="CTRCT19; MP17; MP19"
                     /note="lens intrinsic membrane protein 2"
                     /db_xref="GeneID:3982"
                     /db_xref="HGNC:HGNC:6610"
                     /db_xref="MIM:154045"
     exon            1..56
                     /gene="LIM2"
                     /gene_synonym="CTRCT19; MP17; MP19"
                     /inference="alignment:Splign:2.1.0"
     exon            57..237
                     /gene="LIM2"
                     /gene_synonym="CTRCT19; MP17; MP19"
                     /inference="alignment:Splign:2.1.0"
     CDS             63..584
                     /gene="LIM2"
                     /gene_synonym="CTRCT19; MP17; MP19"
                     /note="isoform 2 is encoded by transcript variant 2; lens
                     fiber membrane intrinsic protein; MP18; MP20; lens
                     intrinsic membrane protein 2, 19kDa"
                     /codon_start=1
                     /product="lens fiber membrane intrinsic protein isoform 2"
                     /protein_id="NP_001155220.1"
                     /db_xref="CCDS:CCDS59415.1"
                     /db_xref="GeneID:3982"
                     /db_xref="HGNC:HGNC:6610"
                     /db_xref="MIM:154045"
                     /translation="MYSFMGGGLFCAWVGTILLVVAMATDHWMQYRLSGSFAHQGLWR
                     YCLGNKCYLQTDSIAYWNATRAFMILSALCAISGIIMGIMAFAHQPTFSRISRPFSAG
                     IMFFSSTLFVVLALAIYTGVTVSFLGRRFGDWRFSWSYILGWVAVLMTFFAGIFYMCA
                     YRVHECRRLSTPR"
     exon            238..387
                     /gene="LIM2"
                     /gene_synonym="CTRCT19; MP17; MP19"
                     /inference="alignment:Splign:2.1.0"
     exon            388..522
                     /gene="LIM2"
                     /gene_synonym="CTRCT19; MP17; MP19"
                     /inference="alignment:Splign:2.1.0"
     exon            523..876
                     /gene="LIM2"
                     /gene_synonym="CTRCT19; MP17; MP19"
                     /inference="alignment:Splign:2.1.0"
     regulatory      856..861
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LIM2"
                     /gene_synonym="CTRCT19; MP17; MP19"
                     /note="hexamer: AATAAA"
     polyA_site      876
                     /gene="LIM2"
                     /gene_synonym="CTRCT19; MP17; MP19"
                     /note="major polyA site"
ORIGIN      
        1 agtctgcaca gaggggccgt ggcagaagga gggctcgggc aggctctgcc actcagatca
       61 ccatgtacag cttcatgggt ggtggcctgt tctgtgcctg ggtggggacc atcctcctgg
      121 tggtggccat ggcaacagac cactggatgc agtaccggct gtcagggtcc ttcgcccacc
      181 agggcctgtg gcggtactgc ctgggcaaca agtgctacct gcagacagac agcatcgcat
      241 actggaatgc cacccgggcc ttcatgatcc tgtctgccct atgcgccatc tccggcatca
      301 tcatgggcat catggccttc gctcatcagc ctaccttctc ccgcatctcc cggcccttct
      361 ctgctggcat catgtttttt tcctcaaccc ttttcgtcgt gttggccttg gccatctaca
      421 ctggagtcac cgtcagcttc ctgggccgcc gctttgggga ctggcgcttt tcctggtcct
      481 acatcctggg ctgggtggca gtgctcatga cgttcttcgc agggattttc tacatgtgcg
      541 cctaccgggt gcatgaatgc cggcgcctgt ctacaccccg ctgagcccaa atgtgtcccc
      601 caacttcatc tggaagttaa agtgaggcca ctgaagagga ggaggagggt ctagaggcct
      661 gaaatcctgg ttcctagggg aatgaggggg ctcagttctg gactgtgggt ttgtgggggg
      721 aggctgactc ctggtcctag gctggaagga ggaagaatag ggcccatggg agggagctga
      781 gaagactcaa gtccccgtct gcctggcagg ttgttagaaa aatggactat ccattagagc
      841 aactttctgg ggcctaataa aactgatgtg aaacta
//
