Home |
Help |
Advanced search
2024-04-24 16:48:19, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_003311 937 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens pleckstrin homology-like domain, family A, member 2
(PHLDA2), mRNA.
ACCESSION NM_003311
VERSION NM_003311.3 GI:57863296
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 937)
AUTHORS Huang,Y., Dai,H. and Guo,Q.N.
TITLE TSSC3 overexpression reduces stemness and induces apoptosis of
osteosarcoma tumor-initiating cells
JOURNAL Apoptosis 17 (8), 749-761 (2012)
PUBMED 22610481
REMARK GeneRIF: TSSC3 inhibits osteosarcoma tumorigenicity through
reducing stemness and promoting apoptosis of tumor inducing cells
REFERENCE 2 (bases 1 to 937)
AUTHORS Ishida,M., Monk,D., Duncan,A.J., Abu-Amero,S., Chong,J., Ring,S.M.,
Pembrey,M.E., Hindmarsh,P.C., Whittaker,J.C., Stanier,P. and
Moore,G.E.
TITLE Maternal inheritance of a promoter variant in the imprinted PHLDA2
gene significantly increases birth weight
JOURNAL Am. J. Hum. Genet. 90 (4), 715-719 (2012)
PUBMED 22444668
REMARK GeneRIF: A luciferase reporter assay was used to identify in the
PHLDA2 promoter a 15 bp repeat sequence variant that significantly
reduces PHLDA2-promoter efficiency. Maternal inheritance of the
variant resulted in a significant increase in birth weight.
REFERENCE 3 (bases 1 to 937)
AUTHORS Lewis RM, Cleal JK, Ntani G, Crozier SR, Mahon PA, Robinson SM,
Harvey NC, Cooper C, Inskip HM, Godfrey KM, Hanson MA and John RM.
CONSRTM Southampton Women's Survey Study Group
TITLE Relationship between placental expression of the imprinted PHLDA2
gene, intrauterine skeletal growth and childhood bone mass
JOURNAL Bone 50 (1), 337-342 (2012)
PUBMED 22100507
REMARK GeneRIF: The results suggest that placental PHLDA2 may provide a
biomarker for suboptimal skeletal growth in pregnancies
uncomplicated by overt fetal growth restriction.
REFERENCE 4 (bases 1 to 937)
AUTHORS Dai,H., Huang,Y., Li,Y., Meng,G., Wang,Y. and Guo,Q.N.
TITLE TSSC3 overexpression associates with growth inhibition, apoptosis
induction and enhances chemotherapeutic effects in human
osteosarcoma
JOURNAL Carcinogenesis 33 (1), 30-40 (2012)
PUBMED 22021909
REMARK GeneRIF: TSSC3 has a potent tumor suppressor role in osteosarcoma,
probably by inhibition of growth and induction of apoptosis via the
mitochondrial apoptosis pathway.
REFERENCE 5 (bases 1 to 937)
AUTHORS O'Seaghdha CM, Yang Q, Glazer NL, Leak TS, Dehghan A, Smith AV, Kao
WH, Lohman K, Hwang SJ, Johnson AD, Hofman A, Uitterlinden AG, Chen
YD, Brown EM, Siscovick DS, Harris TB, Psaty BM, Coresh J, Gudnason
V, Witteman JC, Liu YM, Kestenbaum BR, Fox CS and Kottgen A.
CONSRTM GEFOS Consortium
TITLE Common variants in the calcium-sensing receptor gene are associated
with total serum calcium levels
JOURNAL Hum. Mol. Genet. 19 (21), 4296-4303 (2010)
PUBMED 20705733
REFERENCE 6 (bases 1 to 937)
AUTHORS Feinberg,A.P.
TITLE Imprinting of a genomic domain of 11p15 and loss of imprinting in
cancer: an introduction
JOURNAL Cancer Res. 59 (7 SUPPL), 1743S-1746S (1999)
PUBMED 10197590
REMARK Review article
REFERENCE 7 (bases 1 to 937)
AUTHORS Schwienbacher,C., Sabbioni,S., Campi,M., Veronese,A., Bernardi,G.,
Menegatti,A., Hatada,I., Mukai,T., Ohashi,H., Barbanti-Brodano,G.,
Croce,C.M. and Negrini,M.
TITLE Transcriptional map of 170-kb region at chromosome 11p15.5:
identification and mutational analysis of the BWR1A gene reveals
the presence of mutations in tumor samples
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 95 (7), 3873-3878 (1998)
PUBMED 9520460
REFERENCE 8 (bases 1 to 937)
AUTHORS Lee,M.P. and Feinberg,A.P.
TITLE Genomic imprinting of a human apoptosis gene homologue, TSSC3
JOURNAL Cancer Res. 58 (5), 1052-1056 (1998)
PUBMED 9500470
REFERENCE 9 (bases 1 to 937)
AUTHORS Hu,R.J., Lee,M.P., Connors,T.D., Johnson,L.A., Burn,T.C., Su,K.,
Landes,G.M. and Feinberg,A.P.
TITLE A 2.5-Mb transcript map of a tumor-suppressing subchromosomal
transferable fragment from 11p15.5, and isolation and sequence
analysis of three novel genes
JOURNAL Genomics 46 (1), 9-17 (1997)
PUBMED 9403053
REFERENCE 10 (bases 1 to 937)
AUTHORS Qian,N., Frank,D., O'Keefe,D., Dao,D., Zhao,L., Yuan,L., Wang,Q.,
Keating,M., Walsh,C. and Tycko,B.
TITLE The IPL gene on chromosome 11p15.5 is imprinted in humans and mice
and is similar to TDAG51, implicated in Fas expression and
apoptosis
JOURNAL Hum. Mol. Genet. 6 (12), 2021-2029 (1997)
PUBMED 9328465
REMARK GeneRIF: PHLDA2 gene is imprinted, with preferential expression
from the maternal allele in placenta and liver.
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AF035444.1 and AI659266.1.
This sequence is a reference standard in the RefSeqGene project.
On Jan 15, 2005 this sequence version replaced gi:21071004.
Summary: This gene is located in a cluster of imprinted genes on
chromosome 11p15.5, which is considered to be an important tumor
suppressor gene region. Alterations in this region may be
associated with the Beckwith-Wiedemann syndrome, Wilms tumor,
rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and
breast cancer. This gene has been shown to be imprinted, with
preferential expression from the maternal allele in placenta and
liver. [provided by RefSeq, Oct 2010].
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 :: AF035444.1, BU500509.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
imprinted gene :: PMID: 9328465
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-854 AF035444.1 1-854
855-937 AI659266.1 1-83 c
FEATURES Location/Qualifiers
source 1..937
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11p15.4"
gene 1..937
/gene="PHLDA2"
/gene_synonym="BRW1C; BWR1C; HLDA2; IPL; TSSC3"
/note="pleckstrin homology-like domain, family A, member
2"
/db_xref="GeneID:7262"
/db_xref="HGNC:12385"
/db_xref="HPRD:03679"
/db_xref="MIM:602131"
exon 1..525
/gene="PHLDA2"
/gene_synonym="BRW1C; BWR1C; HLDA2; IPL; TSSC3"
/inference="alignment:Splign:1.39.8"
CDS 57..515
/gene="PHLDA2"
/gene_synonym="BRW1C; BWR1C; HLDA2; IPL; TSSC3"
/note="tumor suppressing subtransferable candidate 3;
tumor suppressing subchromosomal transferable fragment
cDNA 3; p17-Beckwith-Wiedemann region 1C; tumor-supressing
STF cDNA 3; p17-BWR1C; p17-Beckwith-Wiedemann region 1 C;
tumor-suppressing STF cDNA 3 protein; imprinted in
placenta and liver protein; beckwith-Wiedemann syndrome
chromosomal region 1 candidate gene C protein;
tumor-suppressing subchromosomal transferable fragment
candidate gene 3 protein"
/codon_start=1
/product="pleckstrin homology-like domain family A member
2"
/protein_id="NP_003302.1"
/db_xref="GI:4507705"
/db_xref="CCDS:CCDS7741.1"
/db_xref="GeneID:7262"
/db_xref="HGNC:12385"
/db_xref="HPRD:03679"
/db_xref="MIM:602131"
/translation="
MKSPDEVLREGELEKRSDSLFQLWKKKRGVLTSDRLSLFPASPRARPKELRFHSILKVDCVERTGKYVYFTIVTTDHKEIDFRCAGESCWNAAIALALIDFQNRRALQDFRSRQERTAPAAPAEDAVAAAAAAPSEPSEPSRPSPQPKPRTP
"
misc_feature 63..65
/gene="PHLDA2"
/gene_synonym="BRW1C; BWR1C; HLDA2; IPL; TSSC3"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q53GA4.2); phosphorylation site"
misc_feature 81..308
/gene="PHLDA2"
/gene_synonym="BRW1C; BWR1C; HLDA2; IPL; TSSC3"
/note="Pleckstrin homology (PH) domain; Region: PH;
cd00821"
/db_xref="CDD:176270"
misc_feature order(81..104,129..149,156..176,213..221,225..239,
264..281,291..308)
/gene="PHLDA2"
/gene_synonym="BRW1C; BWR1C; HLDA2; IPL; TSSC3"
/note="core domain; other site"
/db_xref="CDD:176270"
misc_feature order(99..101,129..131,135..143)
/gene="PHLDA2"
/gene_synonym="BRW1C; BWR1C; HLDA2; IPL; TSSC3"
/note="putative lipid binding motif; other site"
/db_xref="CDD:176270"
misc_feature 180..182
/gene="PHLDA2"
/gene_synonym="BRW1C; BWR1C; HLDA2; IPL; TSSC3"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q53GA4.2); phosphorylation site"
misc_feature 180..182
/gene="PHLDA2"
/gene_synonym="BRW1C; BWR1C; HLDA2; IPL; TSSC3"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 477..479
/gene="PHLDA2"
/gene_synonym="BRW1C; BWR1C; HLDA2; IPL; TSSC3"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q53GA4.2); phosphorylation site"
misc_feature 486..488
/gene="PHLDA2"
/gene_synonym="BRW1C; BWR1C; HLDA2; IPL; TSSC3"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q53GA4.2); phosphorylation site"
misc_feature 507..509
/gene="PHLDA2"
/gene_synonym="BRW1C; BWR1C; HLDA2; IPL; TSSC3"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphothreonine; propagated from
UniProtKB/Swiss-Prot (Q53GA4.2); phosphorylation site"
variation 93
/gene="PHLDA2"
/gene_synonym="BRW1C; BWR1C; HLDA2; IPL; TSSC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:13390"
variation 364
/gene="PHLDA2"
/gene_synonym="BRW1C; BWR1C; HLDA2; IPL; TSSC3"
/replace="a"
/replace="c"
/db_xref="dbSNP:200259411"
exon 526..920
/gene="PHLDA2"
/gene_synonym="BRW1C; BWR1C; HLDA2; IPL; TSSC3"
/inference="alignment:Splign:1.39.8"
STS 542..695
/gene="PHLDA2"
/gene_synonym="BRW1C; BWR1C; HLDA2; IPL; TSSC3"
/standard_name="RH39948"
/db_xref="UniSTS:92025"
variation 562
/gene="PHLDA2"
/gene_synonym="BRW1C; BWR1C; HLDA2; IPL; TSSC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:1056819"
variation 568
/gene="PHLDA2"
/gene_synonym="BRW1C; BWR1C; HLDA2; IPL; TSSC3"
/replace="g"
/replace="t"
/db_xref="dbSNP:10582"
STS 675..766
/gene="PHLDA2"
/gene_synonym="BRW1C; BWR1C; HLDA2; IPL; TSSC3"
/standard_name="RH77915"
/db_xref="UniSTS:34725"
polyA_signal 744..749
/gene="PHLDA2"
/gene_synonym="BRW1C; BWR1C; HLDA2; IPL; TSSC3"
polyA_site 773
/gene="PHLDA2"
/gene_synonym="BRW1C; BWR1C; HLDA2; IPL; TSSC3"
/experiment="experimental evidence, no additional details
recorded"
polyA_site 776
/gene="PHLDA2"
/gene_synonym="BRW1C; BWR1C; HLDA2; IPL; TSSC3"
/experiment="experimental evidence, no additional details
recorded"
variation 855
/gene="PHLDA2"
/gene_synonym="BRW1C; BWR1C; HLDA2; IPL; TSSC3"
/replace="a"
/replace="c"
/db_xref="dbSNP:1056832"
polyA_signal 898..903
/gene="PHLDA2"
/gene_synonym="BRW1C; BWR1C; HLDA2; IPL; TSSC3"
polyA_site 920
/gene="PHLDA2"
/gene_synonym="BRW1C; BWR1C; HLDA2; IPL; TSSC3"
ORIGIN
agagccggcgccgtcaccgcccgcattgccgctcccagtcccgcgctcggcacgacatgaaatcccccgacgaggtgctacgcgagggcgagttggagaagcgcagcgacagcctcttccagctatggaagaagaagcgcggggtgctcacctccgaccgcctgagcctgttccccgccagcccccgcgcgcgccccaaggagctgcgcttccactccatcctcaaggtggactgcgtggagcgcacgggcaagtacgtgtacttcaccatcgtcaccaccgaccacaaggagatcgacttccgctgcgcgggcgagagctgctggaacgcggccatcgcgctggcgctcatcgatttccagaaccgccgcgccctgcaggactttcgcagccgccaggaacgcaccgcacccgccgcacccgccgaggacgccgtggctgccgcggccgccgcaccctccgagccctcggagccctccaggccatccccgcagcccaaaccccgcacgccatgagcccgccgcgggccatacgctggacgagtcggaccgaggctaggacgtggccggcgctctccagccctgcagcagaagaacttcccgtgcgcgcggatcctcgctccgttgcacgggcgccttaagttattggactatctaatatctatgtatttatttcgctggttctttgtagtcacatattttatagtcttaatatcttgtttttgcatcactgtgcccattgcaaataaatcacttggccagtttgcttttctaccatccggctgtggctcagtgagactcctgctgggagggtggaggcccaggaatgggcgggcaggacaccctcatccagtcctgcggggctggtgtgaaaggcgctgggaaccggctttgaatgaataaatgaatcgtgtcatctgcaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:7262 -> Molecular function: GO:0005543 [phospholipid binding] evidence: IEA
GeneID:7262 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:7262 -> Biological process: GO:0009887 [organ morphogenesis] evidence: IEA
GeneID:7262 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA
GeneID:7262 -> Cellular component: GO:0016020 [membrane] evidence: IEA
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.