Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | PARP2 | Human | lipodystrophy | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21417348 | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | PARP2 | Human | lipodystrophy | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21417348 | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| # | Reference Title | Reference Citation |
| 1. | Structures and Mechanisms of Enzymes Employed in the Synthesis and Degradation of PARP-Dependent Protein ADP-Ribosylation. | Barkauskaite E, etal., Mol Cell. 2015 Jun 18;58(6):935-46. doi: 10.1016/j.molcel.2015.05.007. |
| 2. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 4. | Alpha-lipoic acid attenuates cardiac hypertrophy via downregulation of PARP-2 and subsequent activation of SIRT-1. | Zhang L, etal., Eur J Pharmacol. 2014 Dec 5;744:203-10. doi: 10.1016/j.ejphar.2014.09.037. Epub 2014 Sep 30. |
| PMID:7260241 | PMID:10329013 | PMID:10338144 | PMID:10364231 | PMID:10644454 | PMID:11948190 | PMID:12065591 | PMID:12217960 | PMID:14699148 | PMID:14702039 | PMID:15615785 | PMID:16344560 |
| PMID:16461352 | PMID:17518695 | PMID:18339380 | PMID:18353725 | PMID:18587655 | PMID:18644123 | PMID:18676401 | PMID:19064572 | PMID:19505873 | PMID:19607827 | PMID:19666485 | PMID:19806447 |
| PMID:19913121 | PMID:20092359 | PMID:20504901 | PMID:20522537 | PMID:20628086 | PMID:21211722 | PMID:21577210 | PMID:21812934 | PMID:21825151 | PMID:21873635 | PMID:23291187 | PMID:24365238 |
| PMID:24782312 | PMID:25043379 | PMID:25133494 | PMID:25281560 | PMID:25544563 | PMID:25609649 | PMID:25665578 | PMID:25724268 | PMID:25800440 | PMID:26186194 | PMID:26496610 | PMID:26513298 |
| PMID:26673720 | PMID:26674097 | PMID:26704974 | PMID:27067600 | PMID:27087568 | PMID:27248496 | PMID:27300349 | PMID:27471034 | PMID:27609421 | PMID:27708353 | PMID:27926873 | PMID:27965414 |
| PMID:28190768 | PMID:28192407 | PMID:28514442 | PMID:28628639 | PMID:29036662 | PMID:29467415 | PMID:29509190 | PMID:30104678 | PMID:30154076 | PMID:30321391 | PMID:30463901 | PMID:30471916 |
| PMID:30686591 | PMID:30804502 | PMID:30833792 | PMID:30880404 | PMID:30940648 | PMID:31076518 | PMID:31129062 | PMID:31266892 | PMID:31470122 | PMID:31473101 | PMID:31527615 | PMID:31741433 |
| PMID:32028527 | PMID:32221289 | PMID:32360251 | PMID:32757651 | PMID:32785980 | PMID:32939087 | PMID:33087277 | PMID:33141820 | PMID:33275888 | PMID:33637726 | PMID:33649352 | PMID:33925170 |
| PMID:33961781 | PMID:34051087 | PMID:34066057 | PMID:34108479 | PMID:34199944 | PMID:34210965 | PMID:34731617 | PMID:34732825 | PMID:34795260 | PMID:35271311 | PMID:35944360 | PMID:36215168 |
| PMID:36424410 | PMID:36526897 | PMID:36543142 | PMID:36574265 | PMID:36724073 | PMID:37054706 | PMID:37216533 | PMID:37326017 | PMID:37351597 | PMID:38029688 | PMID:38803224 |
| PARP2 (Homo sapiens - human) |
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| Parp2 (Mus musculus - house mouse) |
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| Parp2 (Rattus norvegicus - Norway rat) |
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| Parp2 (Chinchilla lanigera - long-tailed chinchilla) |
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| PARP2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| PARP2 (Canis lupus familiaris - dog) |
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| Parp2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| PARP2 (Sus scrofa - pig) |
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| PARP2 (Chlorocebus sabaeus - green monkey) |
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| Parp2 (Heterocephalus glaber - naked mole-rat) |
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| Parp2 (Rattus rattus - black rat) |
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.
Variants in PARP2
51 total Variants
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| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3 | copy number gain | See cases [RCV000050914] | Chr14:20151149..23442195 [GRCh38] Chr14:20619308..23911404 [GRCh37] Chr14:19689148..22981244 [NCBI36] Chr14:14q11.2 |
pathogenic |
| GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1 | copy number loss | See cases [RCV000051483] | Chr14:19755249..22741281 [GRCh38] Chr14:20223408..23210490 [GRCh37] Chr14:19293248..22280330 [NCBI36] Chr14:14q11.2 |
pathogenic |
| GRCh38/hg38 14q11.2-12(chr14:20151149-27723796)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|See cases [RCV000051484] | Chr14:20151149..27723796 [GRCh38] Chr14:20619308..28193002 [GRCh37] Chr14:19689148..27262842 [NCBI36] Chr14:14q11.2-12 |
pathogenic |
| GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 | copy number loss | See cases [RCV000051485] | Chr14:20196945..45284802 [GRCh38] Chr14:20665104..45754005 [GRCh37] Chr14:19734944..44823755 [NCBI36] Chr14:14q11.2-21.2 |
pathogenic |
| GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 | copy number gain | See cases [RCV000053803] | Chr14:20000611..38984415 [GRCh38] Chr14:20468770..39453619 [GRCh37] Chr14:19538610..38523370 [NCBI36] Chr14:14q11.2-21.1 |
pathogenic |
| GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3 | copy number gain | See cases [RCV000053804] | Chr14:20127290..21376436 [GRCh38] Chr14:20595449..21844595 [GRCh37] Chr14:19665289..20914435 [NCBI36] Chr14:14q11.2 |
pathogenic |
| GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|See cases [RCV000053806] | Chr14:20150949..39746154 [GRCh38] Chr14:20619108..40215358 [GRCh37] Chr14:19688948..39285109 [NCBI36] Chr14:14q11.2-21.1 |
pathogenic |
| GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 | copy number gain | See cases [RCV000135543] | Chr14:20151149..106855263 [GRCh38] Chr14:20619308..107263478 [GRCh37] Chr14:19689148..106334523 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
| GRCh38/hg38 14q11.2(chr14:20289246-20418076)x3 | copy number gain | See cases [RCV000136784] | Chr14:20289246..20418076 [GRCh38] Chr14:20757405..20886235 [GRCh37] Chr14:19827245..19956075 [NCBI36] Chr14:14q11.2 |
benign |
| GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 | copy number gain | See cases [RCV000143373] | Chr14:20043514..106877229 [GRCh38] Chr14:20511673..107285437 [GRCh37] Chr14:19581513..106356482 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
| GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3 | copy number gain | See cases [RCV000143186] | Chr14:20022693..44093672 [GRCh38] Chr14:20490852..44562875 [GRCh37] Chr14:19560692..43632625 [NCBI36] Chr14:14q11.2-21.2 |
pathogenic |
| GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 | copy number gain | See cases [RCV000143748] | Chr14:20043513..48642042 [GRCh38] Chr14:20511672..49111245 [GRCh37] Chr14:19581512..48180995 [NCBI36] Chr14:14q11.2-21.3 |
pathogenic |
| GRCh37/hg19 14q11.2-12(chr14:19100682-28730087) | copy number gain | not provided [RCV000767822] | Chr14:19100682..28730087 [GRCh37] Chr14:14q11.2-12 |
pathogenic |
| GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3 | copy number gain | See cases [RCV000240285] | Chr14:19794561..27768254 [GRCh37] Chr14:14q11.2-12 |
pathogenic |
| GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 | copy number gain | See cases [RCV000446256] | Chr14:19794561..107234280 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
| GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3 | copy number gain | See cases [RCV000448273] | Chr14:19794561..34049214 [GRCh37] Chr14:14q11.2-13.1 |
pathogenic |
| GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) | copy number gain | See cases [RCV000512041] | Chr14:20511673..107285437 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
| NM_001042618.2(PARP2):c.1100A>G (p.Lys367Arg) | single nucleotide variant | not specified [RCV004305105] | Chr14:20356030 [GRCh38] Chr14:20824189 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 | copy number gain | not provided [RCV000738412] | Chr14:19000422..107289053 [GRCh37] Chr14:14q11.1-32.33 |
pathogenic |
| GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 | copy number gain | not provided [RCV000738413] | Chr14:19280733..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
| GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 | copy number gain | not provided [RCV000738414] | Chr14:19327823..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
| GRCh37/hg19 14q11.2(chr14:20731947-20971784)x3 | copy number gain | not provided [RCV000750936] | Chr14:20731947..20971784 [GRCh37] Chr14:14q11.2 |
benign |
| GRCh37/hg19 14q11.2(chr14:20743269-20969733)x3 | copy number gain | not provided [RCV000750937] | Chr14:20743269..20969733 [GRCh37] Chr14:14q11.2 |
benign |
| NM_001042618.2(PARP2):c.477C>T (p.Ala159=) | single nucleotide variant | not provided [RCV000901959] | Chr14:20351102 [GRCh38] Chr14:20819261 [GRCh37] Chr14:14q11.2 |
likely benign |
| NM_001042618.2(PARP2):c.37A>G (p.Arg13Gly) | single nucleotide variant | not specified [RCV004292623] | Chr14:20343678 [GRCh38] Chr14:20811837 [GRCh37] Chr14:14q11.2 |
likely benign |
| NM_001042618.2(PARP2):c.443G>A (p.Ser148Asn) | single nucleotide variant | not provided [RCV000960551] | Chr14:20351068 [GRCh38] Chr14:20819227 [GRCh37] Chr14:14q11.2 |
benign |
| NM_001042618.2(PARP2):c.1033T>C (p.Leu345=) | single nucleotide variant | not provided [RCV000960552] | Chr14:20355963 [GRCh38] Chr14:20824122 [GRCh37] Chr14:14q11.2 |
benign |
| GRCh37/hg19 14q11.2(chr14:20511672-21174548)x3 | copy number gain | not provided [RCV000846276] | Chr14:20511672..21174548 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| GRCh37/hg19 14q11.2(chr14:20511672-20903963)x3 | copy number gain | not provided [RCV000848234] | Chr14:20511672..20903963 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.1632T>C (p.Asn544=) | single nucleotide variant | not provided [RCV000909437] | Chr14:20357716 [GRCh38] Chr14:20825875 [GRCh37] Chr14:14q11.2 |
benign |
| GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3 | copy number gain | not provided [RCV001006605] | Chr14:20511672..44829030 [GRCh37] Chr14:14q11.2-21.2 |
pathogenic |
| NM_001042618.2(PARP2):c.665A>G (p.Asp222Gly) | single nucleotide variant | not provided [RCV001617039] | Chr14:20354149 [GRCh38] Chr14:20822308 [GRCh37] Chr14:14q11.2 |
benign |
| GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3 | copy number gain | not provided [RCV001249358] | Chr14:20511672..42881888 [GRCh37] Chr14:14q11.2-21.1 |
not provided |
| GRCh37/hg19 14q11.2(chr14:20511672-21915516)x1 | copy number loss | not provided [RCV001259176] | Chr14:20511672..21915516 [GRCh37] Chr14:14q11.2 |
pathogenic |
| GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203) | copy number gain | Seizure [RCV002280625] | Chr14:20511672..47481203 [GRCh37] Chr14:14q11.2-21.3 |
pathogenic |
| NC_000014.9:g.20013858_20436718dup | duplication | 14q11.2 microduplication syndrome [RCV001837230] | Chr14:20013858..20436718 [GRCh38] Chr14:14q11.2 |
uncertain significance |
| GRCh37/hg19 14q11.2(chr14:20664697-21017250) | copy number gain | not specified [RCV002053087] | Chr14:20664697..21017250 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1 | copy number loss | not provided [RCV002474574] | Chr14:20690196..23114522 [GRCh37] Chr14:14q11.2 |
pathogenic |
| NM_001042618.2(PARP2):c.841C>T (p.His281Tyr) | single nucleotide variant | not specified [RCV004220484] | Chr14:20354886 [GRCh38] Chr14:20823045 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.1359G>A (p.Met453Ile) | single nucleotide variant | not specified [RCV004114794] | Chr14:20357080 [GRCh38] Chr14:20825239 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.455G>A (p.Cys152Tyr) | single nucleotide variant | not specified [RCV004131240] | Chr14:20351080 [GRCh38] Chr14:20819239 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.1499A>G (p.His500Arg) | single nucleotide variant | not specified [RCV004123393] | Chr14:20357466 [GRCh38] Chr14:20825625 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.17G>C (p.Arg6Pro) | single nucleotide variant | not specified [RCV004145999] | Chr14:20343658 [GRCh38] Chr14:20811817 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.1417C>G (p.Leu473Val) | single nucleotide variant | not specified [RCV004150317] | Chr14:20357138 [GRCh38] Chr14:20825297 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.1670G>A (p.Arg557Gln) | single nucleotide variant | not specified [RCV004236668] | Chr14:20357754 [GRCh38] Chr14:20825913 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.202+13G>A | single nucleotide variant | not specified [RCV004167010] | Chr14:20345100 [GRCh38] Chr14:20813259 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.238C>G (p.Pro80Ala) | single nucleotide variant | not specified [RCV004190182] | Chr14:20345429 [GRCh38] Chr14:20813588 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.856A>G (p.Met286Val) | single nucleotide variant | not specified [RCV004082005] | Chr14:20354901 [GRCh38] Chr14:20823060 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.865T>C (p.Cys289Arg) | single nucleotide variant | not specified [RCV004280364] | Chr14:20354910 [GRCh38] Chr14:20823069 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.35G>T (p.Gly12Val) | single nucleotide variant | not specified [RCV004278008] | Chr14:20343676 [GRCh38] Chr14:20811835 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.425G>A (p.Gly142Glu) | single nucleotide variant | not specified [RCV004264848] | Chr14:20351050 [GRCh38] Chr14:20819209 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.1526C>T (p.Ala509Val) | single nucleotide variant | not specified [RCV004276129] | Chr14:20357493 [GRCh38] Chr14:20825652 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.625G>C (p.Glu209Gln) | single nucleotide variant | not specified [RCV004258992] | Chr14:20354109 [GRCh38] Chr14:20822268 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.448G>A (p.Val150Met) | single nucleotide variant | not specified [RCV004250381] | Chr14:20351073 [GRCh38] Chr14:20819232 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.908G>A (p.Arg303His) | single nucleotide variant | not specified [RCV004331520] | Chr14:20355757 [GRCh38] Chr14:20823916 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.955C>G (p.Gln319Glu) | single nucleotide variant | not specified [RCV004360478] | Chr14:20355804 [GRCh38] Chr14:20823963 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3 | copy number gain | not provided [RCV003485022] | Chr14:20511673..61826023 [GRCh37] Chr14:14q11.2-23.1 |
pathogenic |
| GRCh37/hg19 14q11.2(chr14:20511672-20903963)x3 | copy number gain | not specified [RCV003987062] | Chr14:20511672..20903963 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.19C>G (p.Arg7Gly) | single nucleotide variant | not specified [RCV004502646] | Chr14:20343660 [GRCh38] Chr14:20811819 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.202+37C>G | single nucleotide variant | not specified [RCV004502647] | Chr14:20345124 [GRCh38] Chr14:20813283 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.1297G>A (p.Ala433Thr) | single nucleotide variant | not specified [RCV004502643] | Chr14:20356657 [GRCh38] Chr14:20824816 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.815T>C (p.Ile272Thr) | single nucleotide variant | not specified [RCV004502649] | Chr14:20354860 [GRCh38] Chr14:20823019 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.857T>C (p.Met286Thr) | single nucleotide variant | not specified [RCV004502650] | Chr14:20354902 [GRCh38] Chr14:20823061 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.1250C>A (p.Ser417Tyr) | single nucleotide variant | not specified [RCV004502642] | Chr14:20356610 [GRCh38] Chr14:20824769 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.1546G>A (p.Val516Ile) | single nucleotide variant | not specified [RCV004502645] | Chr14:20357513 [GRCh38] Chr14:20825672 [GRCh37] Chr14:14q11.2 |
likely benign |
| NM_001042618.2(PARP2):c.1147G>A (p.Asp383Asn) | single nucleotide variant | not specified [RCV004502641] | Chr14:20356352 [GRCh38] Chr14:20824511 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.143A>C (p.Lys48Thr) | single nucleotide variant | not specified [RCV004502644] | Chr14:20345028 [GRCh38] Chr14:20813187 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.301G>A (p.Val101Ile) | single nucleotide variant | not specified [RCV004502648] | Chr14:20346890 [GRCh38] Chr14:20815049 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.830G>C (p.Arg277Pro) | single nucleotide variant | not specified [RCV004664202] | Chr14:20354875 [GRCh38] Chr14:20823034 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.1016A>G (p.Gln339Arg) | single nucleotide variant | not specified [RCV004664200] | Chr14:20355946 [GRCh38] Chr14:20824105 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.1046A>G (p.Tyr349Cys) | single nucleotide variant | not specified [RCV004664201] | Chr14:20355976 [GRCh38] Chr14:20824135 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.554C>T (p.Pro185Leu) | single nucleotide variant | not specified [RCV004650974] | Chr14:20352301 [GRCh38] Chr14:20820460 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.596C>G (p.Thr199Ser) | single nucleotide variant | not specified [RCV004841773] | Chr14:20352343 [GRCh38] Chr14:20820502 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.173A>G (p.Asn58Ser) | single nucleotide variant | not specified [RCV004841774] | Chr14:20345058 [GRCh38] Chr14:20813217 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.540G>T (p.Lys180Asn) | single nucleotide variant | not specified [RCV004841772] | Chr14:20352287 [GRCh38] Chr14:20820446 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.688A>C (p.Lys230Gln) | single nucleotide variant | not specified [RCV004830244] | Chr14:20354172 [GRCh38] Chr14:20822331 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| GRCh37/hg19 14q11.2(chr14:20773391-21685066)x3 | copy number gain | not provided [RCV004819599] | Chr14:20773391..21685066 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.202+22C>T | single nucleotide variant | not specified [RCV004830245] | Chr14:20345109 [GRCh38] Chr14:20813268 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.1619C>T (p.Thr540Ile) | single nucleotide variant | not specified [RCV004830246] | Chr14:20357703 [GRCh38] Chr14:20825862 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.260C>G (p.Ala87Gly) | single nucleotide variant | not specified [RCV005395572] | Chr14:20345451 [GRCh38] Chr14:20813610 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.119G>A (p.Arg40His) | single nucleotide variant | not specified [RCV005383690] | Chr14:20345004 [GRCh38] Chr14:20813163 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.40G>A (p.Ala14Thr) | single nucleotide variant | not specified [RCV005383691] | Chr14:20343681 [GRCh38] Chr14:20811840 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.275C>G (p.Ala92Gly) | single nucleotide variant | not specified [RCV005383693] | Chr14:20346864 [GRCh38] Chr14:20815023 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| NM_001042618.2(PARP2):c.865T>A (p.Cys289Ser) | single nucleotide variant | not specified [RCV005383692] | Chr14:20354910 [GRCh38] Chr14:20823069 [GRCh37] Chr14:14q11.2 |
uncertain significance |
| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
||||||||
| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| G24108 |
|
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| G31064 |
|
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| RH93704 |
|
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| G59489 |
|
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| G36285 |
|
|
adipose tissue
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
entire extraembryonic component
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
pharyngeal arch
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
visual system
|
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1204 | 2439 | 2788 | 2252 | 4972 | 1726 | 2351 | 6 | 624 | 1950 | 465 | 2269 | 7304 | 6469 | 52 | 3734 | 1 | 852 | 1744 | 1617 | 175 | 1 |
| RefSeq Transcripts | NG_033959 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001042618 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_005484 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005267247 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017020912 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_047430869 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_054333140 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_054333141 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_054333142 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_054375240 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_054375241 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_054375242 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AF085734 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AF479321 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AJ236876 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AJ236912 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK001980 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK290079 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK300971 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL355075 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AX008892 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BU541261 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471078 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CP068264 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DA354586 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENST00000250416 ⟹ ENSP00000250416 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Ensembl Acc Id: | ENST00000429687 ⟹ ENSP00000392972 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Ensembl Acc Id: | ENST00000527384 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Ensembl Acc Id: | ENST00000527915 ⟹ ENSP00000432283 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Ensembl Acc Id: | ENST00000528465 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Ensembl Acc Id: | ENST00000529465 ⟹ ENSP00000431867 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Ensembl Acc Id: | ENST00000530598 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Ensembl Acc Id: | ENST00000532299 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Ensembl Acc Id: | ENST00000534664 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Ensembl Acc Id: | ENST00000539930 ⟹ ENSP00000445524 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Ensembl Acc Id: | ENST00000555140 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Ensembl Acc Id: | ENST00000859467 ⟹ ENSP00000529526 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Ensembl Acc Id: | ENST00000859468 ⟹ ENSP00000529527 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Ensembl Acc Id: | ENST00000925414 ⟹ ENSP00000595473 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Ensembl Acc Id: | ENST00000925415 ⟹ ENSP00000595474 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Ensembl Acc Id: | ENST00000925416 ⟹ ENSP00000595475 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Ensembl Acc Id: | ENST00000965371 ⟹ ENSP00000635430 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Ensembl Acc Id: | ENST00000965372 ⟹ ENSP00000635431 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | NM_001042618 ⟹ NP_001036083 | ||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||||||
| Sequence: |
| RefSeq Acc Id: | NM_005484 ⟹ NP_005475 | ||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||||||
| Sequence: |
| RefSeq Acc Id: | XM_005267247 ⟹ XP_005267304 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
||||||||||||
| Sequence: |
| RefSeq Acc Id: | XM_017020912 ⟹ XP_016876401 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
||||||||
| Sequence: |
| RefSeq Acc Id: | XM_047430869 ⟹ XP_047286825 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | XM_054375240 ⟹ XP_054231215 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | XM_054375241 ⟹ XP_054231216 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | XM_054375242 ⟹ XP_054231217 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Protein RefSeqs | NP_001036083 | (Get FASTA) | NCBI Sequence Viewer |
| NP_005475 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005267304 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016876401 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_047286825 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_054189115 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_054189116 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_054189117 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_054231215 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_054231216 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_054231217 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAD29857 | (Get FASTA) | NCBI Sequence Viewer |
| AAL77437 | (Get FASTA) | NCBI Sequence Viewer | |
| BAA92017 | (Get FASTA) | NCBI Sequence Viewer | |
| BAF82768 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG62594 | (Get FASTA) | NCBI Sequence Viewer | |
| CAB41505 | (Get FASTA) | NCBI Sequence Viewer | |
| CAB65088 | (Get FASTA) | NCBI Sequence Viewer | |
| CAC07442 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW66476 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW66477 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW66478 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSP00000250416 | ||
| ENSP00000250416.5 | |||
| ENSP00000392972 | |||
| ENSP00000392972.3 | |||
| ENSP00000517361.1 | |||
| ENSP00000517362.1 | |||
| GenBank Protein | Q9UGN5 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_005475 ⟸ NM_005484 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | Q9UMR4 (UniProtKB/Swiss-Prot), Q9NUV2 (UniProtKB/Swiss-Prot), Q9Y6C8 (UniProtKB/Swiss-Prot), Q9UGN5 (UniProtKB/Swiss-Prot), Q8TEU4 (UniProtKB/Swiss-Prot), A8K214 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | NP_001036083 ⟸ NM_001042618 |
| - Peptide Label: | isoform 2 |
| - UniProtKB: | A8K214 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_005267304 ⟸ XM_005267247 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | G3V167 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_016876401 ⟸ XM_017020912 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | G3V167 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSP00000392972 ⟸ ENST00000429687 |
| Ensembl Acc Id: | ENSP00000445524 ⟸ ENST00000539930 |
| Ensembl Acc Id: | ENSP00000432283 ⟸ ENST00000527915 |
| Ensembl Acc Id: | ENSP00000250416 ⟸ ENST00000250416 |
| Ensembl Acc Id: | ENSP00000431867 ⟸ ENST00000529465 |
| RefSeq Acc Id: | XP_047286825 ⟸ XM_047430869 |
| - Peptide Label: | isoform X3 |
| RefSeq Acc Id: | XP_054231215 ⟸ XM_054375240 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | G3V167 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_054231216 ⟸ XM_054375241 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | G3V167 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_054231217 ⟸ XM_054375242 |
| - Peptide Label: | isoform X3 |
| Ensembl Acc Id: | ENSP00000595474 ⟸ ENST00000925415 |
| Ensembl Acc Id: | ENSP00000595473 ⟸ ENST00000925414 |
| Ensembl Acc Id: | ENSP00000529527 ⟸ ENST00000859468 |
| Ensembl Acc Id: | ENSP00000595475 ⟸ ENST00000925416 |
| Ensembl Acc Id: | ENSP00000635431 ⟸ ENST00000965372 |
| Ensembl Acc Id: | ENSP00000529526 ⟸ ENST00000859467 |
| Ensembl Acc Id: | ENSP00000635430 ⟸ ENST00000965371 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-Q9UGN5-F1-model_v2 | AlphaFold | Q9UGN5 | 1-583 | view protein structure |
| RGD ID: | 6791784 | ||||||||
| Promoter ID: | HG_KWN:18754 | ||||||||
| Type: | CpG-Island | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | MPROMDB | ||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
| Transcripts: | NM_001042618, NM_005484, UC001VXB.1 | ||||||||
| Position: |
|
| RGD ID: | 7226949 | ||||||||
| Promoter ID: | EPDNEW_H19220 | ||||||||
| Type: | initiation region | ||||||||
| Name: | PARP2_1 | ||||||||
| Description: | poly(ADP-ribose) polymerase 2 | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
|
| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:272 | AgrOrtholog |
| COSMIC | PARP2 | COSMIC |
| Ensembl Genes | ENSG00000129484 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSG00000291803 | UniProtKB/Swiss-Prot | |
| Ensembl Transcript | ENST00000250416 | ENTREZGENE |
| ENST00000250416.9 | UniProtKB/Swiss-Prot | |
| ENST00000429687 | ENTREZGENE | |
| ENST00000429687.8 | UniProtKB/Swiss-Prot | |
| ENST00000708822.1 | UniProtKB/Swiss-Prot | |
| ENST00000708823.1 | UniProtKB/Swiss-Prot | |
| Gene3D-CATH | 1.20.142.10 | UniProtKB/Swiss-Prot |
| 3.90.228.10 | UniProtKB/Swiss-Prot | |
| WGR domain | UniProtKB/Swiss-Prot | |
| GTEx | ENSG00000129484 | GTEx |
| ENSG00000291803 | GTEx | |
| HGNC ID | HGNC:272 | ENTREZGENE |
| Human Proteome Map | PARP2 | Human Proteome Map |
| InterPro | ARTD/PARP | UniProtKB/Swiss-Prot |
| Poly(ADP-ribose)pol_cat_dom | UniProtKB/Swiss-Prot | |
| Poly(ADP-ribose)pol_reg_dom | UniProtKB/Swiss-Prot | |
| Poly(ADP-ribose)pol_reg_dom_sf | UniProtKB/Swiss-Prot | |
| WGR_dom_sf | UniProtKB/Swiss-Prot | |
| WGR_domain | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:10038 | UniProtKB/Swiss-Prot |
| NCBI Gene | 10038 | ENTREZGENE |
| OMIM | 607725 | OMIM |
| PANTHER | DNA LIGASE | UniProtKB/Swiss-Prot |
| POLY [ADP-RIBOSE] POLYMERASE 2 | UniProtKB/Swiss-Prot | |
| Pfam | PARP | UniProtKB/Swiss-Prot |
| PARP_reg | UniProtKB/Swiss-Prot | |
| WGR | UniProtKB/Swiss-Prot | |
| PharmGKB | PA24592 | PharmGKB |
| PROSITE | PARP_ALPHA_HD | UniProtKB/Swiss-Prot |
| PARP_CATALYTIC | UniProtKB/Swiss-Prot | |
| WGR | UniProtKB/Swiss-Prot | |
| RNAcentral | URS00008B7061 | RNACentral |
| SMART | WGR | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | ADP-ribosylation | UniProtKB/Swiss-Prot |
| SSF142921 | UniProtKB/Swiss-Prot | |
| SSF47587 | UniProtKB/Swiss-Prot | |
| UniProt | A8K214 | ENTREZGENE, UniProtKB/TrEMBL |
| E9PJ27_HUMAN | UniProtKB/TrEMBL | |
| G3V167 | ENTREZGENE, UniProtKB/TrEMBL | |
| H0YH02_HUMAN | UniProtKB/TrEMBL | |
| PARP2_HUMAN | UniProtKB/Swiss-Prot | |
| Q8TEU4 | ENTREZGENE | |
| Q9NUV2 | ENTREZGENE | |
| Q9UGN5 | ENTREZGENE | |
| Q9UMR4 | ENTREZGENE | |
| Q9Y6C8 | ENTREZGENE | |
| UniProt Secondary | Q8TEU4 | UniProtKB/Swiss-Prot |
| Q9NUV2 | UniProtKB/Swiss-Prot | |
| Q9UMR4 | UniProtKB/Swiss-Prot | |
| Q9Y6C8 | UniProtKB/Swiss-Prot |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2015-11-10 | PARP2 | poly(ADP-ribose) polymerase 2 | PARP2 | poly (ADP-ribose) polymerase 2 | Symbol and/or name change | 5135510 | APPROVED |
| 2015-11-10 | PARP2 | poly(ADP-ribose) polymerase 2 | PARP2 | poly (ADP-ribose) polymerase 2 | Symbol and/or name change | 5135510 | APPROVED |