2024-04-20 06:24:11, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_030657 1001 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens lens intrinsic membrane protein 2, 19kDa (LIM2), transcript variant 1, mRNA. ACCESSION NM_030657 VERSION NM_030657.3 GI:239916000 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 1001) 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 1001) 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 1001) 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 1001) 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 1001) 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 1001) 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 1001) 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 1001) 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 1001) 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 1001) 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, AF340019.1 and BU734982.1. This sequence is a reference standard in the RefSeqGene project. On Jun 13, 2009 this sequence version replaced gi:21361299. 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 (1) encodes the longer 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 :: AF340019.1, BC069430.1 [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 1-219 CD675859.1 1-219 220-983 AF340019.1 207-970 984-1001 BU734982.1 1-18 c FEATURES Location/Qualifiers source 1..1001 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="19" /map="19q13.4" gene 1..1001 /gene="LIM2" /gene_synonym="MP17; MP19" /note="lens intrinsic membrane protein 2, 19kDa" /db_xref="GeneID:3982" /db_xref="HGNC:6610" /db_xref="HPRD:01097" /db_xref="MIM:154045" exon 1..38 /gene="LIM2" /gene_synonym="MP17; MP19" /inference="alignment:Splign:1.39.8" STS 14..742 /gene="LIM2" /gene_synonym="MP17; MP19" /db_xref="UniSTS:480459" STS 21..713 /gene="LIM2" /gene_synonym="MP17; MP19" /db_xref="UniSTS:486167" STS 25..749 /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..345 /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..692 /gene="LIM2" /gene_synonym="MP17; MP19" /note="isoform 1 is encoded by transcript variant 1; lens fiber membrane intrinsic protein; MP18; MP20" /codon_start=1 /product="lens fiber membrane intrinsic protein isoform 1" /protein_id="NP_085915.2" /db_xref="GI:21361300" /db_xref="CCDS:CCDS12831.1" /db_xref="GeneID:3982" /db_xref="HGNC:6610" /db_xref="HPRD:01097" /db_xref="MIM:154045" /translation="
MYSFMGGGLFCAWVGTILLVVAMATDHWMQYRLSGSFAHQGLWRYCLGNKCYLQTDSIGEPPGQGPGRAWGKSRADLGAQGHLYSRWRTLRLKEGKGATQAYWNATRAFMILSALCAISGIIMGIMAFAHQPTFSRISRPFSAGIMFFSSTLFVVLALAIYTGVTVSFLGRRFGDWRFSWSYILGWVAVLMTFFAGIFYMCAYRVHECRRLSTPR
" misc_feature 45..641 /gene="LIM2" /gene_synonym="MP17; MP19" /note="PMP-22/EMP/MP20/Claudin family; Region: PMP22_Claudin; pfam00822" /db_xref="CDD:109862" variation 176 /gene="LIM2" /gene_synonym="MP17; MP19" /replace="a" /replace="g" /db_xref="dbSNP:2547310" variation 268 /gene="LIM2" /gene_synonym="MP17; MP19" /replace="c" /replace="g" /db_xref="dbSNP:2547311" variation 270 /gene="LIM2" /gene_synonym="MP17; MP19" /replace="c" /replace="g" /db_xref="dbSNP:2741232" exon 346..495 /gene="LIM2" /gene_synonym="MP17; MP19" /inference="alignment:Splign:1.39.8" exon 496..630 /gene="LIM2" /gene_synonym="MP17; MP19" /inference="alignment:Splign:1.39.8" exon 631..984 /gene="LIM2" /gene_synonym="MP17; MP19" /inference="alignment:Splign:1.39.8" polyA_signal 964..969 /gene="LIM2" /gene_synonym="MP17; MP19" polyA_site 984 /gene="LIM2" /gene_synonym="MP17; MP19" ORIGIN
gtggcagaaggagggctcgggcaggctctgccactcagatcaccatgtacagcttcatgggtggtggcctgttctgtgcctgggtggggaccatcctcctggtggtggccatggcaacagaccactggatgcagtaccggctgtcagggtccttcgcccaccagggcctgtggcggtactgcctgggcaacaagtgctacctgcagacagacagcatcggtgagccccccggccagggtccaggccgcgcctggggaaagagcagggcggacctcggggcccaaggacacctgtattccagatggagaactctgcggctcaaagagggaaagggagcaacccaagcatactggaatgccacccgggccttcatgatcctgtctgccctatgcgccatctccggcatcatcatgggcatcatggccttcgctcatcagcctaccttctcccgcatctcccggcccttctctgctggcatcatgtttttttcctcaacccttttcgtcgtgttggccttggccatctacactggagtcaccgtcagcttcctgggccgccgctttggggactggcgcttttcctggtcctacatcctgggctgggtggcagtgctcatgacgttcttcgcagggattttctacatgtgcgcctaccgggtgcatgaatgccggcgcctgtctacaccccgctgagcccaaatgtgtcccccaacttcatctggaagttaaagtgaggccactgaagaggaggaggagggtctagaggcctgaaatcctggttcctaggggaatgagggggctcagttctggactgtgggtttgtggggggaggctgactcctggtcctaggctggaaggaggaagaatagggcccatgggagggagctgagaagactcaagtccccgtctgcctggcaggttgttagaaaaatggactatccattagagcaactttctggggcctaataaaactgatgtgaaactaaaaaaaaaaaaaaaaaa
//
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
This page is licensed under a Creative Commons Attribution 2.1 Japan License.