Home |
Help |
Advanced search
2025-05-12 01:46:57, 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 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.