GPATCH2 (G-patch domain containing 2) - Rat Genome Database

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Gene: GPATCH2 (G-patch domain containing 2) Pan paniscus
Analyze
Symbol: GPATCH2
Name: G-patch domain containing 2
RGD ID: 12003797
Description: ENCODES a protein that exhibits nucleic acid binding (inferred); ASSOCIATED WITH gastrointestinal stromal tumor (ortholog); Loeys-Dietz syndrome 4 (ortholog); long QT syndrome (ortholog); FOUND IN nuclear speck (inferred)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: G patch domain-containing protein 2
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: Mhudiblu_PPA_v0 - Bonobo Mhudiblu_PPA_v0 Assembly
Position:
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2131,763,118 - 31,965,017 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1131,725,703 - 31,927,046 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01193,003,601 - 193,205,432 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11197,857,935 - 198,059,484 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1197,857,941 - 198,059,474 (-)Ensemblpanpan1.1panPan2
JBrowse: View Region in Genome Browser (JBrowse)
Model


Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GPATCH2Bonobogastrointestinal stromal tumor  ISORGD:13188848554872ClinVar Annotator: match by term: Gastrointestinal stromal tumorClinVarPMID:28492532
GPATCH2BonoboLoeys-Dietz syndrome 4  ISORGD:13188848554872ClinVar Annotator: match by term: Loeys-Dietz syndrome 4ClinVarPMID:22772368|PMID:28544325
GPATCH2Bonobolong QT syndrome  ISORGD:13188848554872ClinVar Annotator: match by term: Long QT syndromeClinVarPMID:26132555
GPATCH2Bonoboparathyroid carcinoma  ISORGD:13188848554872ClinVar Annotator: match by term: Parathyroid carcinomaClinVarPMID:28492532
GPATCH2BonoboUsher syndrome  ISORGD:13188848554872ClinVar Annotator: match by term: Usher syndromeClinVarPMID:28041643


Cellular Component

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GPATCH2Bonobonuclear speck located_inIEAUniProtKB:Q9NW75|ensembl:ENSP00000355902150520179 EnsemblGO_REF:0000107

Molecular Function

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GPATCH2Bonobonucleic acid binding enablesIEAInterPro:IPR000467150520179 InterProGO_REF:0000002
GPATCH2Bonoboprotein binding enablesISOUniProtKB:O15481|UniProtKB:P68400|UniProtKB:Q99598|UniProtKB:Q9C005|UniProtKB:Q9NRD59068941 PMID:32296183IntActPMID:32296183
GPATCH2Bonoboprotein binding enablesISOUniProtKB:Q9NRD59068941 PMID:28514442IntActPMID:28514442

PMID:22301074   PMID:30032202  



GPATCH2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2131,763,118 - 31,965,017 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1131,725,703 - 31,927,046 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01193,003,601 - 193,205,432 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11197,857,935 - 198,059,484 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1197,857,941 - 198,059,474 (-)Ensemblpanpan1.1panPan2
GPATCH2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381217,426,992 - 217,631,090 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1217,426,992 - 217,631,090 (-)EnsemblGRCh38hg38GRCh38
GRCh371217,600,334 - 217,804,432 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361215,670,457 - 215,871,032 (-)NCBINCBI36Build 36hg18NCBI36
Build 341213,992,228 - 214,192,804NCBI
Celera1190,827,684 - 191,027,875 (-)NCBICelera
Cytogenetic Map1q41NCBI
HuRef1188,278,921 - 188,478,906 (-)NCBIHuRef
CHM1_11218,876,685 - 219,077,177 (-)NCBICHM1_1
T2T-CHM13v2.01216,668,052 - 216,872,104 (-)NCBIT2T-CHM13v2.0
Gpatch2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391186,946,855 - 187,103,839 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1186,947,705 - 187,083,901 (+)EnsemblGRCm39 Ensembl
GRCm381187,214,606 - 187,371,645 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1187,215,508 - 187,351,704 (+)EnsemblGRCm38mm10GRCm38
MGSCv371189,039,390 - 189,175,324 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361188,916,327 - 189,052,233 (+)NCBIMGSCv36mm8
Celera1194,141,999 - 194,286,287 (+)NCBICelera
Cytogenetic Map1H5NCBI
Gpatch2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr813101,316,413 - 101,457,109 (+)NCBIGRCr8
mRatBN7.21398,784,993 - 98,925,696 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1398,784,969 - 98,925,661 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx13101,300,685 - 101,441,458 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.013102,689,606 - 102,830,321 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01399,886,641 - 100,027,413 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.013105,684,300 - 105,824,405 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl13105,684,420 - 105,815,606 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.013110,334,061 - 110,473,833 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.413103,353,994 - 103,371,422 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.113103,543,036 - 103,560,464 (+)NCBI
Celera1398,284,103 - 98,301,528 (+)NCBICelera
Cytogenetic Map13q26NCBI
Gpatch2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955406800,453 - 963,069 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955406800,496 - 963,004 (+)NCBIChiLan1.0ChiLan1.0
GPATCH2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13812,682,263 - 12,850,587 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3812,685,619 - 12,850,529 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3812,725,387 - 12,893,272 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03812,715,544 - 12,883,411 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3812,715,547 - 12,883,400 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13812,726,062 - 12,893,706 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03813,072,275 - 13,240,324 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03813,381,421 - 13,549,482 (-)NCBIUU_Cfam_GSD_1.0
Gpatch2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934458,996,190 - 59,169,876 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366281,006,188 - 1,180,885 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366281,006,216 - 1,181,124 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GPATCH2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl107,615,604 - 7,797,214 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1107,615,121 - 7,797,227 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2109,648,001 - 9,812,655 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GPATCH2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12511,956,218 - 12,154,532 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605512,375,443 - 12,579,241 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gpatch2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248351,624,559 - 1,796,746 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248351,624,428 - 1,796,095 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

.

1 to 10 of 30 rows
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 14q11.2-12(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 14q11.2-21.1(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
NC_000014.9:g.23102176C>T single nucleotide variant Malignant melanoma [RCV000070495] Chr14:23102176 [GRCh38]
Chr14:23571385 [GRCh37]
Chr14:22641225 [NCBI36]
Chr14:14q11.2
not provided
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 14q11.2-12(chr14:20412587-25018120)x3 copy number gain See cases [RCV000137725] Chr14:20412587..25018120 [GRCh38]
Chr14:20880746..25487326 [GRCh37]
Chr14:19950586..24557166 [NCBI36]
Chr14:14q11.2-12
likely pathogenic
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
1 to 10 of 30 rows






Ensembl Acc Id: ENSPPAT00000054826   ⟹   ENSPPAP00000031960
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
PanPan1.1 Ensembl1197,857,941 - 198,059,474 (-)Ensembl
Ensembl Acc Id: ENSPPAT00000054831   ⟹   ENSPPAP00000031965
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
PanPan1.1 Ensembl1197,872,960 - 198,059,343 (-)Ensembl
Ensembl Acc Id: ENSPPAT00000054835   ⟹   ENSPPAP00000031969
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
PanPan1.1 Ensembl1198,036,569 - 198,059,474 (-)Ensembl
RefSeq Acc Id: XM_003814138   ⟹   XP_003814186
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v2131,763,118 - 31,965,017 (+)NCBI
NHGRI_mPanPan1131,725,703 - 31,927,046 (+)NCBI
Mhudiblu_PPA_v01193,003,601 - 193,205,432 (-)NCBI
PanPan1.11197,857,935 - 198,059,484 (-)NCBI
Sequence:
RefSeq Acc Id: XM_008966771   ⟹   XP_008965019
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v2131,763,118 - 31,965,017 (+)NCBI
NHGRI_mPanPan1131,725,722 - 31,923,376 (+)NCBI
Mhudiblu_PPA_v01193,007,762 - 193,205,432 (-)NCBI
PanPan1.11197,861,215 - 198,059,474 (-)NCBI
Sequence:
RefSeq Acc Id: XM_008966773   ⟹   XP_008965021
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v2131,763,118 - 31,786,032 (+)NCBI
NHGRI_mPanPan1131,725,707 - 31,748,615 (+)NCBI
Mhudiblu_PPA_v01193,182,533 - 193,205,432 (-)NCBI
PanPan1.11198,036,569 - 198,059,484 (-)NCBI
Sequence:
RefSeq Acc Id: XM_055108058   ⟹   XP_054964033
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v2131,763,118 - 31,965,017 (+)NCBI
NHGRI_mPanPan1131,725,703 - 31,927,046 (+)NCBI
Protein RefSeqs XP_003814186 (Get FASTA)   NCBI Sequence Viewer  
  XP_008965019 (Get FASTA)   NCBI Sequence Viewer  
  XP_008965021 (Get FASTA)   NCBI Sequence Viewer  
  XP_054964033 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSPPAP00000031960.1
  ENSPPAP00000031965.1
  ENSPPAP00000031969.1
RefSeq Acc Id: XP_003814186   ⟸   XM_003814138
- Peptide Label: isoform X2
- UniProtKB: A0A2R9BRA5 (UniProtKB/TrEMBL),   A0A2R9BRB0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_008965019   ⟸   XM_008966771
- Peptide Label: isoform X3
- UniProtKB: A0A2R9BRB0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_008965021   ⟸   XM_008966773
- Peptide Label: isoform X4
- UniProtKB: A0A2R9BU52 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSPPAP00000031965   ⟸   ENSPPAT00000054831
Ensembl Acc Id: ENSPPAP00000031969   ⟸   ENSPPAT00000054835
G-patch



1 to 15 of 15 rows
Database
Acc Id
Source(s)
Ensembl Genes ENSPPAG00000038887 Ensembl, UniProtKB/TrEMBL
Ensembl Transcript ENSPPAT00000054826.1 UniProtKB/TrEMBL
  ENSPPAT00000054831.1 UniProtKB/TrEMBL
  ENSPPAT00000054835.1 UniProtKB/TrEMBL
InterPro G_patch_dom UniProtKB/TrEMBL
  Splicing_assoc_domain UniProtKB/TrEMBL
KEGG Report pps:100987534 UniProtKB/TrEMBL
NCBI Gene GPATCH2 ENTREZGENE
PANTHER G PATCH DOMAIN CONTAINING PROTEIN 2 UniProtKB/TrEMBL
Pfam G-patch UniProtKB/TrEMBL
PROSITE G_PATCH UniProtKB/TrEMBL
SMART G_patch UniProtKB/TrEMBL
UniProt A0A2R9BRA5 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R9BRB0 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R9BU52 ENTREZGENE, UniProtKB/TrEMBL
1 to 15 of 15 rows