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2024-03-29 19:52:38, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001161748             875 bp    mRNA    linear   PRI 01-MAY-2013
DEFINITION  Homo sapiens lens intrinsic membrane protein 2, 19kDa (LIM2),
            transcript variant 2, mRNA.
ACCESSION   NM_001161748
VERSION     NM_001161748.1  GI:239916001
KEYWORDS    RefSeq.
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 875)
  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   2  (bases 1 to 875)
  AUTHORS   Zhou,Z., Wang,B., Hu,S., Zhang,C., Ma,X. and Qi,Y.
  TITLE     Genetic variations in GJA3, GJA8, LIM2, and age-related cataract in
            the Chinese population: a mutation screening study
  JOURNAL   Mol. Vis. 17, 621-626 (2011)
   PUBMED   21386927
  REMARK    GeneRIF: The genetic mutation in GJA3, GJA8, and LIM2 may slightly
            contribute to the development of age-related cataracts.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 875)
  AUTHORS   Ponnam,S.P., Ramesha,K., Tejwani,S., Matalia,J. and Kannabiran,C.
  TITLE     A missense mutation in LIM2 causes autosomal recessive congenital
            cataract
  JOURNAL   Mol. Vis. 14, 1204-1208 (2008)
   PUBMED   18596884
  REMARK    GeneRIF: This study shows the involvement of LIM2 in human
            congenital cataract.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 875)
  AUTHORS   Hsu,H., Zhang,S.R., Sang,J.L., Qi,R.M. and Church,R.L.
  TITLE     Identification of a lens-specific cis-acting element within the
            basal promoter of the human lens intrinsic membrane protein MP19
            gene (LIM2)
  JOURNAL   Sheng Wu Gong Cheng Xue Bao 20 (4), 507-515 (2004)
   PUBMED   15968979
  REMARK    GeneRIF: Since the LIM2 gene promoter does not contain a classic
            TATA box, the Hsu element may serve as the site for binding the RNA
            polymerase complex.
REFERENCE   5  (bases 1 to 875)
  AUTHORS   Wistow,G., Bernstein,S.L., Wyatt,M.K., Behal,A., Touchman,J.W.,
            Bouffard,G., Smith,D. and Peterson,K.
  TITLE     Expressed sequence tag analysis of adult human lens for the NEIBank
            Project: over 2000 non-redundant transcripts, novel genes and
            splice variants
  JOURNAL   Mol. Vis. 8, 171-184 (2002)
   PUBMED   12107413
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 875)
  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 875)
  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 875)
  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 875)
  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 875)
  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 CD675859.1, AF340020.1 and
            BU734982.1.
            
            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 :: CD675859.1, AF340020.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025089 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-470               CD675859.1         1-470
            471-857             AF340020.1         469-855
            858-875             BU734982.1         1-18                c
FEATURES             Location/Qualifiers
     source          1..875
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.4"
     gene            1..875
                     /gene="LIM2"
                     /gene_synonym="MP17; MP19"
                     /note="lens intrinsic membrane protein 2, 19kDa"
                     /db_xref="GeneID:3982"
                     /db_xref="HGNC:6610"
                     /db_xref="MIM:154045"
     exon            1..38
                     /gene="LIM2"
                     /gene_synonym="MP17; MP19"
                     /inference="alignment:Splign:1.39.8"
     STS             14..616
                     /gene="LIM2"
                     /gene_synonym="MP17; MP19"
                     /db_xref="UniSTS:480459"
     STS             21..587
                     /gene="LIM2"
                     /gene_synonym="MP17; MP19"
                     /db_xref="UniSTS:486167"
     STS             25..623
                     /gene="LIM2"
                     /gene_synonym="MP17; MP19"
                     /db_xref="UniSTS:482181"
     variation       32
                     /gene="LIM2"
                     /gene_synonym="MP17; MP19"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:2547307"
     exon            39..219
                     /gene="LIM2"
                     /gene_synonym="MP17; MP19"
                     /inference="alignment:Splign:1.39.8"
     STS             39..191
                     /gene="LIM2"
                     /gene_synonym="MP17; MP19"
                     /standard_name="GDB:373986"
                     /db_xref="UniSTS:156932"
     CDS             45..566
                     /gene="LIM2"
                     /gene_synonym="MP17; MP19"
                     /note="isoform 2 is encoded by transcript variant 2; lens
                     fiber membrane intrinsic protein; MP18; MP20"
                     /codon_start=1
                     /product="lens fiber membrane intrinsic protein isoform 2"
                     /protein_id="NP_001155220.1"
                     /db_xref="GI:239916002"
                     /db_xref="CCDS:CCDS59415.1"
                     /db_xref="GeneID:3982"
                     /db_xref="HGNC:6610"
                     /db_xref="MIM:154045"
                     /translation="
MYSFMGGGLFCAWVGTILLVVAMATDHWMQYRLSGSFAHQGLWRYCLGNKCYLQTDSIAYWNATRAFMILSALCAISGIIMGIMAFAHQPTFSRISRPFSAGIMFFSSTLFVVLALAIYTGVTVSFLGRRFGDWRFSWSYILGWVAVLMTFFAGIFYMCAYRVHECRRLSTPR
"
     misc_feature    45..515
                     /gene="LIM2"
                     /gene_synonym="MP17; MP19"
                     /note="PMP-22/EMP/MP20/Claudin family; Region:
                     PMP22_Claudin; pfam00822"
                     /db_xref="CDD:109862"
     misc_feature    54..116
                     /gene="LIM2"
                     /gene_synonym="MP17; MP19"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P55344.2);
                     transmembrane region"
     misc_feature    243..305
                     /gene="LIM2"
                     /gene_synonym="MP17; MP19"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P55344.2);
                     transmembrane region"
     misc_feature    339..401
                     /gene="LIM2"
                     /gene_synonym="MP17; MP19"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P55344.2);
                     transmembrane region"
     misc_feature    465..527
                     /gene="LIM2"
                     /gene_synonym="MP17; MP19"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P55344.2);
                     transmembrane region"
     misc_feature    552..554
                     /gene="LIM2"
                     /gene_synonym="MP17; MP19"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P55344.2); phosphorylation site"
     misc_feature    555..557
                     /gene="LIM2"
                     /gene_synonym="MP17; MP19"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphothreonine; propagated from
                     UniProtKB/Swiss-Prot (P55344.2); phosphorylation site"
     variation       176
                     /gene="LIM2"
                     /gene_synonym="MP17; MP19"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2547310"
     exon            220..369
                     /gene="LIM2"
                     /gene_synonym="MP17; MP19"
                     /inference="alignment:Splign:1.39.8"
     exon            370..504
                     /gene="LIM2"
                     /gene_synonym="MP17; MP19"
                     /inference="alignment:Splign:1.39.8"
     exon            505..858
                     /gene="LIM2"
                     /gene_synonym="MP17; MP19"
                     /inference="alignment:Splign:1.39.8"
     polyA_signal    838..843
                     /gene="LIM2"
                     /gene_synonym="MP17; MP19"
     polyA_site      858
                     /gene="LIM2"
                     /gene_synonym="MP17; MP19"
ORIGIN      
gtggcagaaggagggctcgggcaggctctgccactcagatcaccatgtacagcttcatgggtggtggcctgttctgtgcctgggtggggaccatcctcctggtggtggccatggcaacagaccactggatgcagtaccggctgtcagggtccttcgcccaccagggcctgtggcggtactgcctgggcaacaagtgctacctgcagacagacagcatcgcatactggaatgccacccgggccttcatgatcctgtctgccctatgcgccatctccggcatcatcatgggcatcatggccttcgctcatcagcctaccttctcccgcatctcccggcccttctctgctggcatcatgtttttttcctcaacccttttcgtcgtgttggccttggccatctacactggagtcaccgtcagcttcctgggccgccgctttggggactggcgcttttcctggtcctacatcctgggctgggtggcagtgctcatgacgttcttcgcagggattttctacatgtgcgcctaccgggtgcatgaatgccggcgcctgtctacaccccgctgagcccaaatgtgtcccccaacttcatctggaagttaaagtgaggccactgaagaggaggaggagggtctagaggcctgaaatcctggttcctaggggaatgagggggctcagttctggactgtgggtttgtggggggaggctgactcctggtcctaggctggaaggaggaagaatagggcccatgggagggagctgagaagactcaagtccccgtctgcctggcaggttgttagaaaaatggactatccattagagcaactttctggggcctaataaaactgatgtgaaactaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:3982 -> Molecular function: GO:0005212 [structural constituent of eye lens] evidence: NAS
            GeneID:3982 -> Biological process: GO:0002088 [lens development in camera-type eye] evidence: IEA
            GeneID:3982 -> Biological process: GO:0007043 [cell-cell junction assembly] evidence: NAS
            GeneID:3982 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA
            GeneID:3982 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
            GeneID:3982 -> Cellular component: GO:0030054 [cell junction] evidence: NAS
            GeneID:3982 -> Cellular component: GO:0031982 [vesicle] evidence: IEA

by @meso_cacase at DBCLS
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