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2025-05-09 16:34:53, GGRNA : RefSeq release 60 (20130726)
LOCUS XM_003403858 1341 bp mRNA linear PRI 30-OCT-2012
DEFINITION PREDICTED: Homo sapiens patatin-like phospholipase domain
containing 2 (PNPLA2), partial mRNA.
ACCESSION XM_003403858
VERSION XM_003403858.1 GI:341914943
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
COMMENT MODEL REFSEQ: This record is predicted by automated computational
analysis. This record is derived from a genomic sequence
(NW_001842195) annotated using gene prediction method: GNOMON,
supported by EST evidence.
Also see:
Documentation of NCBI's Annotation Process
COMPLETENESS: incomplete on the 3' end.
##Genome-Annotation-Data-START##
Annotation Provider :: NCBI
Annotation Status :: Full annotation
Annotation Version :: Homo sapiens Annotation Release 104
Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline
Annotation Method :: Best-placed RefSeq; Gnomon
Features Annotated :: Gene; mRNA; CDS; ncRNA
##Genome-Annotation-Data-END##
FEATURES Location/Qualifiers
source 1..1341
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="Unknown"
/sex="male"
/dev_stage="adult"
gene 1..>1341
/gene="PNPLA2"
/note="Derived by automated computational analysis using
gene prediction method: GNOMON. Supporting evidence
includes similarity to: 36 ESTs, 8 Proteins"
/db_xref="GeneID:57104"
/db_xref="HGNC:30802"
/db_xref="MIM:609059"
CDS 1..>1341
/gene="PNPLA2"
/codon_start=1
/product="patatin-like phospholipase domain containing 2"
/protein_id="XP_003403906.1"
/db_xref="GI:341914944"
/db_xref="GeneID:57104"
/db_xref="HGNC:30802"
/db_xref="MIM:609059"
/translation="
MGFVGLPHPRTAGSGQVGEAGAKFIEVSKEARKRFLGPLHPSFNLVKIIRSFLLKVLPADSHEHASGRLGISLTRVSDGENVIISHFNSKDELIQANVCSGFIPVYCGLIPPSLQGVRYVDGGISDNLPLYELKNTITVSPFSGESDICPQDSSTNIHELRVTNTSIQFNLRNLYRLSKALFPPEPLVLREMCKQGYRDGLRFLQRNGLLNRPNPLLALPPARPHGPEDKDQAVESAQAEDYSQLPGEDHILEHLPARLNEALLEACVEPTDLLTTLSNMLPVRLATAMMVPYTLPLESALSFTIRLLEWLPDVPEDIRWMKEQTGSICQYLVMRAKRKLGRHLPSRLPEQVELRRVQSLPSVPLSCAAYREALPGWMRNNLSLGDALAKWEECQRQLLLGLFCTNVAFPPEALRMRAPADPAPAPADPASPQHQPAGPAPLLSTPA
"
misc_feature <49..621
/gene="PNPLA2"
/note="Patatins and Phospholipases; Region:
Patatin_and_cPLA2; cl11396"
/db_xref="CDD:209300"
variation 28
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:141990864"
variation 29
/gene="PNPLA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:370418255"
STS 69..168
/gene="PNPLA2"
/standard_name="A009K14"
/db_xref="UniSTS:59101"
STS 69..168
/gene="PNPLA2"
/standard_name="G32609"
/db_xref="UniSTS:117192"
variation 95
/gene="PNPLA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:373487598"
variation 100
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:371871714"
variation 101
/gene="PNPLA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:139576982"
variation 111
/gene="PNPLA2"
/replace="a"
/replace="c"
/db_xref="dbSNP:200701730"
variation 115
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:149334466"
variation 148
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:143443756"
variation 156
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:370529626"
variation 182
/gene="PNPLA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:147988588"
variation 191
/gene="PNPLA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200683247"
variation 203
/gene="PNPLA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:145999340"
variation 225
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:141674273"
variation 234
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:142174851"
variation 235
/gene="PNPLA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:377534825"
variation 237
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140052906"
variation 257
/gene="PNPLA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:139202485"
variation 264
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:143992505"
variation 273
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:371125971"
variation 274
/gene="PNPLA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375693983"
variation 312
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:61740111"
variation 332
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200260812"
variation 357
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:147314508"
variation 362
/gene="PNPLA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:121908832"
variation 392
/gene="PNPLA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:141014055"
variation 429
/gene="PNPLA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:149864883"
variation 449
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:121918259"
variation 450
/gene="PNPLA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:111788298"
variation 456
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200897893"
variation 472
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:370727999"
variation 474
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:199847643"
variation 481
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:145699347"
variation 504
/gene="PNPLA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:370223018"
variation 520
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140612115"
variation 524..525
/gene="PNPLA2"
/replace=""
/replace="cccccccccc"
/db_xref="dbSNP:146660461"
variation 543
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:10902224"
variation 552
/gene="PNPLA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371893260"
variation 562
/gene="PNPLA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:142852995"
variation 567
/gene="PNPLA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:146584016"
variation 591
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:144220751"
variation 597
/gene="PNPLA2"
/replace=""
/replace="t"
/db_xref="dbSNP:145966476"
variation 612
/gene="PNPLA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140959695"
variation 621
/gene="PNPLA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:140201358"
variation 628
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:372502231"
variation 643
/gene="PNPLA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:145910728"
variation 658
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:56152088"
variation 664
/gene="PNPLA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199992922"
variation 671
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:201894536"
variation 680
/gene="PNPLA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:200993304"
variation 709
/gene="PNPLA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:146739862"
variation 716
/gene="PNPLA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:369213107"
variation 724
/gene="PNPLA2"
/replace="g"
/replace="t"
/db_xref="dbSNP:373510143"
variation 728
/gene="PNPLA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:200088893"
variation 730
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:121918260"
variation 738
/gene="PNPLA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1135628"
variation 754
/gene="PNPLA2"
/replace="a"
/replace="c"
/db_xref="dbSNP:368987427"
variation 762
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376781834"
variation 768
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:141190104"
variation 783
/gene="PNPLA2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201065998"
variation 808
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:150385364"
variation 829
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:137866968"
variation 875
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:370723127"
variation 897
/gene="PNPLA2"
/replace="c"
/replace="t"
/db_xref="dbSNP:373862598"
variation 906
/gene="PNPLA2"
/replace="c"
/replace="g"
/db_xref="dbSNP:374131475"
ORIGIN
atgggttttgtgggtctgccccatccccgcactgctggatctggccaagtgggtgaggctggtgccaagttcattgaggtatctaaagaggcccggaagcggttcctgggccccctgcacccctccttcaacctggtaaagatcatccgcagtttcctgctgaaggtcctgcctgctgatagccatgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagacggcgagaatgtcattatatcccacttcaactccaaggacgagctcatccaggccaatgtctgcagcggtttcatccccgtgtactgtgggctcatccctccctccctccagggggtgcgctacgtggatggtggcatttcagacaacctgccactctatgagcttaagaacaccatcacagtgtcccccttctcgggcgagagtgacatctgtccgcaggacagctccaccaacatccacgagctgcgggtcaccaacaccagcatccagttcaacctgcgcaacctctaccgcctctccaaggccctcttcccgccggagcccctggtgctgcgagagatgtgcaagcagggataccgggatggcctgcgctttctgcagcggaacggcctcctgaaccggcccaaccccttgctggcgttgccccccgcccgcccccacggcccagaggacaaggaccaggcagtggagagcgcccaagcggaggattactcgcagctgcccggagaagatcacatcctggagcacctgcccgcccggctcaatgaggccctgctggaggcctgcgtggagcccacggacctgctgaccaccctctccaacatgctgcctgtgcgtctggccacggccatgatggtgccctacacgctgccgctggagagcgctctgtccttcaccatccgcttgctggagtggctgcccgacgttcccgaggacatccggtggatgaaggagcagacgggcagcatctgccagtacctggtgatgcgcgccaagaggaagctgggcaggcacctgccctccaggctgccggagcaggtggagctgcgccgcgtccagtcgctgccgtccgtgccgctgtcctgcgccgcctacagagaggcactgcccggctggatgcgcaacaacctctcgctgggggacgcgctggccaagtgggaggagtgccagcgccagctgctgctcggcctcttctgcaccaacgtggccttcccgcccgaagctctgcgcatgcgcgcacccgccgacccggctcccgcccccgcggacccagcatccccgcagcaccagccggccgggcctgcccccttgctgagcacccctgct
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:57104 -> Molecular function: GO:0004806 [triglyceride lipase activity] evidence: ISS
GeneID:57104 -> Molecular function: GO:0050253 [retinyl-palmitate esterase activity] evidence: IEA
GeneID:57104 -> Biological process: GO:0006644 [phospholipid metabolic process] evidence: TAS
GeneID:57104 -> Biological process: GO:0010891 [negative regulation of sequestering of triglyceride] evidence: IDA
GeneID:57104 -> Biological process: GO:0010898 [positive regulation of triglyceride catabolic process] evidence: IDA
GeneID:57104 -> Biological process: GO:0019433 [triglyceride catabolic process] evidence: IEA
GeneID:57104 -> Biological process: GO:0036155 [acylglycerol acyl-chain remodeling] evidence: TAS
GeneID:57104 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
GeneID:57104 -> Biological process: GO:0046474 [glycerophospholipid biosynthetic process] evidence: TAS
GeneID:57104 -> Cellular component: GO:0005789 [endoplasmic reticulum membrane] evidence: TAS
GeneID:57104 -> Cellular component: GO:0005811 [lipid particle] evidence: IEA
GeneID:57104 -> Cellular component: GO:0005829 [cytosol] evidence: IEA
GeneID:57104 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA
GeneID:57104 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
by
@meso_cacase at
DBCLS
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