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2025-05-09 16:27:10, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_018040 2336 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens G patch domain containing 2 (GPATCH2), mRNA.
ACCESSION NM_018040
VERSION NM_018040.2 GI:142353610
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 2336)
AUTHORS Fox,C.S., Liu,Y., White,C.C., Feitosa,M., Smith,A.V.,
Heard-Costa,N., Lohman,K., Johnson,A.D., Foster,M.C.,
Greenawalt,D.M., Griffin,P., Ding,J., Newman,A.B., Tylavsky,F.,
Miljkovic,I., Kritchevsky,S.B., Launer,L., Garcia,M.,
Eiriksdottir,G., Carr,J.J., Gudnason,V., Harris,T.B., Cupples,L.A.
and Borecki,I.B.
CONSRTM GIANT Consortium; MAGIC Consortium; GLGC Consortium
TITLE Genome-wide association for abdominal subcutaneous and visceral
adipose reveals a novel locus for visceral fat in women
JOURNAL PLoS Genet. 8 (5), E1002695 (2012)
PUBMED 22589738
REFERENCE 2 (bases 1 to 2336)
AUTHORS Murea,M., Lu,L., Ma,L., Hicks,P.J., Divers,J., McDonough,C.W.,
Langefeld,C.D., Bowden,D.W. and Freedman,B.I.
TITLE Genome-wide association scan for survival on dialysis in
African-Americans with type 2 diabetes
JOURNAL Am. J. Nephrol. 33 (6), 502-509 (2011)
PUBMED 21546767
REFERENCE 3 (bases 1 to 2336)
AUTHORS Lin,M.L., Fukukawa,C., Park,J.H., Naito,K., Kijima,K., Shimo,A.,
Ajiro,M., Nishidate,T., Nakamura,Y. and Katagiri,T.
TITLE Involvement of G-patch domain containing 2 overexpression in breast
carcinogenesis
JOURNAL Cancer Sci. 100 (8), 1443-1450 (2009)
PUBMED 19432882
REMARK GeneRIF: Involvement of GPATCH2 overexpression in breast
carcinogensis is reported.
REFERENCE 4 (bases 1 to 2336)
AUTHORS Hendrickx,A., Beullens,M., Ceulemans,H., Den Abt,T., Van Eynde,A.,
Nicolaescu,E., Lesage,B. and Bollen,M.
TITLE Docking motif-guided mapping of the interactome of protein
phosphatase-1
JOURNAL Chem. Biol. 16 (4), 365-371 (2009)
PUBMED 19389623
REFERENCE 5 (bases 1 to 2336)
AUTHORS Nishidate,T., Katagiri,T., Lin,M.L., Mano,Y., Miki,Y., Kasumi,F.,
Yoshimoto,M., Tsunoda,T., Hirata,K. and Nakamura,Y.
TITLE Genome-wide gene-expression profiles of breast-cancer cells
purified with laser microbeam microdissection: identification of
genes associated with progression and metastasis
JOURNAL Int. J. Oncol. 25 (4), 797-819 (2004)
PUBMED 15375528
COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final
NCBI review. The reference sequence was derived from AK001114.1.
On Apr 6, 2007 this sequence version replaced gi:8922312.
Sequence Note: removed 2 bases from the 5' end that did not align
to the reference genome assembly.
##Evidence-Data-START##
Transcript exon combination :: AK001114.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025088 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-2336 AK001114.1 3-2338
FEATURES Location/Qualifiers
source 1..2336
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q41"
gene 1..2336
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/note="G patch domain containing 2"
/db_xref="GeneID:55105"
/db_xref="HGNC:25499"
/db_xref="HPRD:07657"
exon 1..152
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/inference="alignment:Splign:1.39.8"
misc_feature 64..66
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/note="upstream in-frame stop codon"
variation 85
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/replace="c"
/replace="t"
/db_xref="dbSNP:944730"
CDS 97..1683
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/note="cancer/testis antigen 110; protein phosphatase 1,
regulatory subunit 30"
/codon_start=1
/product="G patch domain-containing protein 2"
/protein_id="NP_060510.1"
/db_xref="GI:8922313"
/db_xref="CCDS:CCDS1518.1"
/db_xref="GeneID:55105"
/db_xref="HGNC:25499"
/db_xref="HPRD:07657"
/translation="
MFGAAGRQPIGAPAAGNSWHFSRTMEELVHDLVSALEESSEQARGGFAETGDHSRSISCPLKRQARKRRGRKRRSYNVHHPWETGHCLSEGSDSSLEEPSKDYRENHNNNKKDHSDSDDQMLVAKRRPSSNLNNNVRGKRPLWHESDFAVDNVGNRTLRRRRKVKRMAVDLPQDISNKRTMTQPPEGCRDQDMDSDRAYQYQEFTKNKVKKRKLKIIRQGPKIQDEGVVLESEETNQTNKDKMECEEQKVSDELMSESDSSSLSSTDAGLFTNDEGRQGDDEQSDWFYEKESGGACGITGVVPWWEKEDPTELDKNVPDPVFESILTGSFPLMSHPSRRGFQARLSRLHGMSSKNIKKSGGTPTSMVPIPGPVGNKRMVHFSPDSHHHDHWFSPGARTEHDQHQLLRDNRAERGHKKNCSVRTASRQTSMHLGSLCTGDIKRRRKAAPLPGPTTAGFVGENAQPILENNIGNRMLQNMGWTPGSGLGRDGKGISEPIQAMQRPKGLGLGFPLPKSTSATTTPNAGKSA
"
misc_feature 439..441
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q9NW75.1); phosphorylation site"
misc_feature 439..441
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 445..447
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q9NW75.1); phosphorylation site"
misc_feature 445..447
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 679..681
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q9NW75.1); phosphorylation site"
misc_feature 1495..1629
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/note="G-patch domain; Region: G-patch; pfam01585"
/db_xref="CDD:144978"
exon 153..869
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/inference="alignment:Splign:1.39.8"
STS 231..361
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/standard_name="SHGC-76370"
/db_xref="UniSTS:76392"
variation 276
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/replace="c"
/replace="t"
/db_xref="dbSNP:34839777"
STS 454..576
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/standard_name="SHGC-76358"
/db_xref="UniSTS:33442"
STS 456..690
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/standard_name="STS-AA026113"
/db_xref="UniSTS:53290"
variation 731
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:3210309"
exon 870..931
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/inference="alignment:Splign:1.39.8"
exon 932..1114
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/inference="alignment:Splign:1.39.8"
exon 1115..1194
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/inference="alignment:Splign:1.39.8"
exon 1195..1262
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/inference="alignment:Splign:1.39.8"
exon 1263..1302
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/inference="alignment:Splign:1.39.8"
exon 1303..1373
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/inference="alignment:Splign:1.39.8"
exon 1374..1462
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/inference="alignment:Splign:1.39.8"
variation 1407
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/replace="a"
/replace="g"
/db_xref="dbSNP:34341444"
exon 1463..2336
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/inference="alignment:Splign:1.39.8"
variation 1516
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/replace="a"
/replace="g"
/db_xref="dbSNP:35737297"
variation 1678
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/replace="a"
/replace="g"
/db_xref="dbSNP:34576349"
STS 2024..2159
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/standard_name="RH103365"
/db_xref="UniSTS:97694"
STS 2071..2204
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/standard_name="SHGC-76374"
/db_xref="UniSTS:18632"
variation 2323
/gene="GPATCH2"
/gene_synonym="CT110; GPATC2; PPP1R30; RP11-361K17.1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1048126"
ORIGIN
aaaatgctgaactgctctttggaagtcgccggtgctgttgtagttggagtctgttcacgggcctgagcttcgaggccaggctcccgggtgtcgttaatgttcggggccgccgggcgccaaccgatcggagctccagcagccgggaacagctggcatttcagtagaaccatggaggagctggttcatgaccttgtctcagcattggaagagagctcagagcaagctcgaggtggatttgctgaaacaggagaccattctcgaagtatatcttgccctctgaaacgccaggcaaggaaaaggagagggagaaaacggaggtcgtataatgtgcatcacccgtgggagactggtcactgcttaagtgaaggctctgattctagtttagaagaaccaagcaaggactatagagagaatcacaataataataaaaaagatcacagtgactctgatgaccaaatgttagtagcaaagcgcaggccgtcatcaaacttaaataataatgttcgagggaaaagacctctatggcatgagtctgattttgctgtggacaatgttgggaatagaactctgcgcaggaggagaaaggtaaaacgcatggcagtagatctcccacaggacatctctaacaaacggacaatgacccagccacctgagggttgtagagatcaggacatggacagtgatagagcctaccagtatcaagaatttaccaagaacaaagtcaaaaaaagaaagttgaaaataatcagacaaggaccaaaaatccaagatgaaggagtagttttagaaagtgaggaaacgaaccagaccaataaggacaaaatggaatgtgaagagcaaaaagtctcagatgagctcatgagtgaaagtgattccagcagtctcagcagcactgatgctggattgtttaccaatgatgagggaagacaaggtgatgatgaacagagtgactggttctacgaaaaggaatcaggtggagcatgtggtatcactggagttgtgccctggtgggaaaaggaagatcctactgagctagacaaaaatgtaccagatcctgtctttgaaagtatcttaactggttcttttccccttatgtcacacccaagcagaagaggtttccaagctagactcagtcgccttcatggaatgtcttcaaagaatattaaaaaatctggagggactccaacttcaatggtacccattcctggcccagtgggtaacaagagaatggttcatttttccccggattctcatcaccatgaccattggtttagccctggggctaggacagagcatgaccagcatcagcttctgagagataatcgagctgaaagaggacacaagaaaaattgttctgtgagaacagccagcaggcaaacaagcatgcatttaggatccttatgcacgggagatatcaaacggagaagaaaagctgcacctttgcctggacctactactgcaggatttgtaggtgaaaatgcccagccaatcctagaaaataatattggaaaccgaatgcttcagaatatgggctggacgcctgggtcaggccttggacgagatggcaaggggatctctgagccaattcaagccatgcagaggccaaagggattaggacttggatttcctctaccaaaaagtacttccgcaactactacccccaatgcaggaaaatccgcctaagaaaagcaaagaagaaatgttttacagactttattcactatgtcccattgttctaaaatgataacatgacttctgtttttgaagcaaaaatctacattgcctcaaacacatcactctagcttccttactgcatacagtcctgccatagtgagagaaatgggatttcatcacaattcatggtgctaaaatgaaaacctctgcactttaatttttttcagtaatttccagctatttctaggtataaagagcagctcgtttctcttatttattttagtctcatgtgtcaatactttccgatgctttgcttaattcatgtatgtgtgcagtgctgcaatgcccagacaaacgtgagcacacccaccagtttctaaaatggaatagacaggaaaagattgtgttttatatcatccctatctattgtaacccaaaagacctaccatcgcatcagtgaagtccgaacacatctttgtttgaaaggcttgtcaatttcatattccttgaattggcttcttggtgaggattttctgacagagtgatacccatcaattttctatccttagacaatgtagtgtgaagttcacagttgacaaacaacaattaatgtttcccttggatgttttgacaaaaataaacctcatcgttgttatcaccag
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:55105 -> Molecular function: GO:0003676 [nucleic acid binding] evidence: IEA
GeneID:55105 -> Biological process: GO:0010923 [negative regulation of phosphatase activity] evidence: IDA
by
@meso_cacase at
DBCLS
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