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

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Gene: GPATCH2 (G-patch domain containing 2) Homo sapiens
Analyze
Symbol: GPATCH2
Name: G-patch domain containing 2
RGD ID: 1318884
HGNC Page HGNC:25499
Description: Predicted to enable nucleic acid binding activity. Located in nuclear speck.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cancer/testis antigen 110; CT110; FLJ10252; FLJ21048; G patch domain containing 2; G patch domain-containing protein 2; GPATC2; MGC74998; Pfa1; PPP1R30; protein phosphatase 1, regulatory subunit 30; RP11-361K17.1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
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
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
nuclear speck  (IDA,IEA)
nucleolus  (IEA)
nucleus  (IBA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:8889548   PMID:14702039   PMID:15375528   PMID:15489334   PMID:16344560   PMID:17081983   PMID:19389623   PMID:19432882   PMID:20379614   PMID:21546767   PMID:21873635   PMID:22589738  
PMID:23455922   PMID:25376275   PMID:26186194   PMID:26673895   PMID:26972000   PMID:28065597   PMID:28514442   PMID:28611215   PMID:30021884   PMID:30745168   PMID:31586073   PMID:31753913  
PMID:32296183   PMID:32707033   PMID:33961781   PMID:34244565   PMID:35271311   PMID:35944360   PMID:36244648   PMID:36736316  


Genomics

Comparative Map Data
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
(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
(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

Variants

.
Variants in GPATCH2
33 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q41(chr1:215206760-222004068)x1 copy number loss See cases [RCV000050298] Chr1:215206760..222004068 [GRCh38]
Chr1:215380103..222177410 [GRCh37]
Chr1:213446726..220244033 [NCBI36]
Chr1:1q41
pathogenic
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41(chr1:215447347-221971832)x3 copy number gain See cases [RCV000051874] Chr1:215447347..221971832 [GRCh38]
Chr1:215620690..222145174 [GRCh37]
Chr1:213687313..220211797 [NCBI36]
Chr1:1q41
pathogenic
GRCh38/hg38 1q41(chr1:216396695-217549806)x1 copy number loss See cases [RCV000053952] Chr1:216396695..217549806 [GRCh38]
Chr1:216570037..217723148 [GRCh37]
Chr1:214636660..215789771 [NCBI36]
Chr1:1q41
pathogenic
GRCh38/hg38 1q41(chr1:216518607-219827290)x1 copy number loss See cases [RCV000053953] Chr1:216518607..219827290 [GRCh38]
Chr1:216691949..220000632 [GRCh37]
Chr1:214758572..218067255 [NCBI36]
Chr1:1q41
pathogenic
GRCh38/hg38 1q41(chr1:217452423-218818361)x1 copy number loss See cases [RCV000053954] Chr1:217452423..218818361 [GRCh38]
Chr1:217625765..218991703 [GRCh37]
Chr1:215692388..217058326 [NCBI36]
Chr1:1q41
pathogenic
NM_018040.3(GPATCH2):c.1206+1440G>A single nucleotide variant Lung cancer [RCV000090500] Chr1:217496916 [GRCh38]
Chr1:217670258 [GRCh37]
Chr1:1q41
uncertain significance
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41(chr1:216598114-218007334)x3 copy number gain See cases [RCV000138050] Chr1:216598114..218007334 [GRCh38]
Chr1:216771456..218180676 [GRCh37]
Chr1:214838079..216247299 [NCBI36]
Chr1:1q41
uncertain significance
GRCh38/hg38 1q41(chr1:217558925-218732002)x3 copy number gain See cases [RCV000142313] Chr1:217558925..218732002 [GRCh38]
Chr1:217732267..218905344 [GRCh37]
Chr1:215798890..216971967 [NCBI36]
Chr1:1q41
uncertain significance
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41(chr1:215206760-222004068)x1 copy number loss See cases [RCV000148255] Chr1:215206760..222004068 [GRCh38]
Chr1:215380103..222177410 [GRCh37]
Chr1:213446726..220244033 [NCBI36]
Chr1:1q41
pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13
pathogenic
NM_018040.5(GPATCH2):c.1526del (p.Gly509fs) deletion Long QT syndrome [RCV000190138] Chr1:217431206 [GRCh38]
Chr1:217604548 [GRCh37]
Chr1:1q41
likely benign
GRCh37/hg19 1q41(chr1:217748650-217893701)x1 copy number loss not provided [RCV000762741] Chr1:217748650..217893701 [GRCh37]
Chr1:1q41
likely benign
Single allele deletion Loeys-Dietz syndrome 4 [RCV000210452] Chr1:215588712..222145072 [GRCh37]
Chr1:1q41
pathogenic
Single allele deletion Loeys-Dietz syndrome 4 [RCV000210464] Chr1:216672181..220202575 [GRCh37]
Chr1:1q41
pathogenic
Single allele deletion Usher syndrome [RCV000505151] Chr1:216066818..222607612 [GRCh38]
Chr1:216240159..222780953 [GRCh37]
Chr1:1q41
likely pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q41(chr1:215829463-219225857) copy number loss Micrognathia [RCV000626525] Chr1:215829463..219225857 [GRCh37]
Chr1:1q41
pathogenic
GRCh37/hg19 1q41(chr1:217699328-218689648)x1 copy number loss See cases [RCV000512424] Chr1:217699328..218689648 [GRCh37]
Chr1:1q41
pathogenic
GRCh37/hg19 1q41(chr1:216761324-218152278)x3 copy number gain not provided [RCV000684698] Chr1:216761324..218152278 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41
pathogenic
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
NM_018040.5(GPATCH2):c.913T>A (p.Trp305Arg) single nucleotide variant Inborn genetic diseases [RCV003249833] Chr1:217610994 [GRCh38]
Chr1:217784336 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44
pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
Single allele deletion Loeys-Dietz syndrome 4 [RCV001837015] Chr1:215199578..223035427 [GRCh37]
Chr1:1q41
pathogenic
Single allele deletion Loeys-Dietz syndrome 4 [RCV001837012] Chr1:216243817..220231236 [GRCh37]
Chr1:1q41
pathogenic
Single allele deletion Loeys-Dietz syndrome 4 [RCV001837011] Chr1:217589671..219026274 [GRCh37]
Chr1:1q41
pathogenic
GRCh37/hg19 1q41(chr1:216767549-218152575) copy number gain not specified [RCV002052834] Chr1:216767549..218152575 [GRCh37]
Chr1:1q41
uncertain significance
Single allele deletion Loeys-Dietz syndrome 4 [RCV001837013] Chr1:217219510..219385296 [GRCh37]
Chr1:1q41
pathogenic
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44
pathogenic
NM_018040.5(GPATCH2):c.728T>C (p.Met243Thr) single nucleotide variant Inborn genetic diseases [RCV002840784] Chr1:217619828 [GRCh38]
Chr1:217793170 [GRCh37]
Chr1:1q41
uncertain significance
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 copy number loss Orofacial cleft 2 [RCV002481175] Chr1:228006998..228061271 [GRCh38]
Chr1:1q32.2-42.13
association
NM_018040.5(GPATCH2):c.958C>T (p.Pro320Ser) single nucleotide variant Inborn genetic diseases [RCV002737917] Chr1:217610949 [GRCh38]
Chr1:217784291 [GRCh37]
Chr1:1q41
uncertain significance
NM_018040.5(GPATCH2):c.1240G>A (p.Gly414Arg) single nucleotide variant Inborn genetic diseases [RCV002738976] Chr1:217491717 [GRCh38]
Chr1:217665059 [GRCh37]
Chr1:1q41
uncertain significance
NM_018040.5(GPATCH2):c.404A>G (p.Asn135Ser) single nucleotide variant Inborn genetic diseases [RCV002951146] Chr1:217620152 [GRCh38]
Chr1:217793494 [GRCh37]
Chr1:1q41
uncertain significance
NM_018040.5(GPATCH2):c.1087C>A (p.Pro363Thr) single nucleotide variant Inborn genetic diseases [RCV002803489] Chr1:217610332 [GRCh38]
Chr1:217783674 [GRCh37]
Chr1:1q41
uncertain significance
NM_018040.5(GPATCH2):c.247G>C (p.Glu83Gln) single nucleotide variant Inborn genetic diseases [RCV003003871] Chr1:217620309 [GRCh38]
Chr1:217793651 [GRCh37]
Chr1:1q41
uncertain significance
NM_018040.5(GPATCH2):c.1081G>A (p.Gly361Arg) single nucleotide variant Inborn genetic diseases [RCV002891998] Chr1:217610338 [GRCh38]
Chr1:217783680 [GRCh37]
Chr1:1q41
uncertain significance
NM_018040.5(GPATCH2):c.719A>C (p.Lys240Thr) single nucleotide variant Inborn genetic diseases [RCV002939607] Chr1:217619837 [GRCh38]
Chr1:217793179 [GRCh37]
Chr1:1q41
uncertain significance
NM_018040.5(GPATCH2):c.758A>G (p.Glu253Gly) single nucleotide variant Inborn genetic diseases [RCV002809741] Chr1:217619798 [GRCh38]
Chr1:217793140 [GRCh37]
Chr1:1q41
uncertain significance
NM_018040.5(GPATCH2):c.383C>T (p.Pro128Leu) single nucleotide variant Inborn genetic diseases [RCV002714347] Chr1:217620173 [GRCh38]
Chr1:217793515 [GRCh37]
Chr1:1q41
uncertain significance
NM_018040.5(GPATCH2):c.607G>A (p.Glu203Lys) single nucleotide variant Inborn genetic diseases [RCV002877662] Chr1:217619949 [GRCh38]
Chr1:217793291 [GRCh37]
Chr1:1q41
uncertain significance
NM_018040.5(GPATCH2):c.1409T>C (p.Ile470Thr) single nucleotide variant Inborn genetic diseases [RCV002808847] Chr1:217431323 [GRCh38]
Chr1:217604665 [GRCh37]
Chr1:1q41
uncertain significance
NM_018040.5(GPATCH2):c.599A>G (p.Gln200Arg) single nucleotide variant Inborn genetic diseases [RCV002652715] Chr1:217619957 [GRCh38]
Chr1:217793299 [GRCh37]
Chr1:1q41
uncertain significance
NM_018040.5(GPATCH2):c.393C>G (p.Asn131Lys) single nucleotide variant Inborn genetic diseases [RCV003179708] Chr1:217620163 [GRCh38]
Chr1:217793505 [GRCh37]
Chr1:1q41
uncertain significance
NM_018040.5(GPATCH2):c.1066A>G (p.Ile356Val) single nucleotide variant Inborn genetic diseases [RCV003190063] Chr1:217610353 [GRCh38]
Chr1:217783695 [GRCh37]
Chr1:1q41
uncertain significance
NM_018040.5(GPATCH2):c.523A>T (p.Ile175Phe) single nucleotide variant Inborn genetic diseases [RCV003183120] Chr1:217620033 [GRCh38]
Chr1:217793375 [GRCh37]
Chr1:1q41
uncertain significance
NM_018040.5(GPATCH2):c.1430A>G (p.Asn477Ser) single nucleotide variant Inborn genetic diseases [RCV003262447] Chr1:217431302 [GRCh38]
Chr1:217604644 [GRCh37]
Chr1:1q41
likely benign
NM_018040.5(GPATCH2):c.588T>G (p.Asp196Glu) single nucleotide variant Inborn genetic diseases [RCV003286315] Chr1:217619968 [GRCh38]
Chr1:217793310 [GRCh37]
Chr1:1q41
uncertain significance
NM_018040.5(GPATCH2):c.931A>G (p.Thr311Ala) single nucleotide variant Inborn genetic diseases [RCV003339398] Chr1:217610976 [GRCh38]
Chr1:217784318 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q41(chr1:214853277-222111742)x1 copy number loss not provided [RCV003484033] Chr1:214853277..222111742 [GRCh37]
Chr1:1q41
pathogenic
NM_018040.5(GPATCH2):c.414G>A (p.Gly138=) single nucleotide variant not provided [RCV003414772] Chr1:217620142 [GRCh38]
Chr1:217793484 [GRCh37]
Chr1:1q41
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2349
Count of miRNA genes:1047
Interacting mature miRNAs:1270
Transcripts:ENST00000366934, ENST00000366935, ENST00000470014, ENST00000485274, ENST00000489246
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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.

Markers in Region
SHGC-53731  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371217,781,679 - 217,781,908UniSTSGRCh37
Build 361215,848,302 - 215,848,531RGDNCBI36
Celera1191,005,153 - 191,005,382RGD
Cytogenetic Map1q41UniSTS
TNG Radiation Hybrid Map1108300.0UniSTS
SHGC-76370  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371217,793,633 - 217,793,763UniSTSGRCh37
Build 361215,860,256 - 215,860,386RGDNCBI36
Celera1191,017,099 - 191,017,229RGD
Cytogenetic Map1q41UniSTS
HuRef1188,468,130 - 188,468,260UniSTS
TNG Radiation Hybrid Map1108305.0UniSTS
GeneMap99-GB4 RH Map1705.12UniSTS
NCBI RH Map11887.8UniSTS
D1S1553  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371217,649,525 - 217,649,713UniSTSGRCh37
Build 361215,716,148 - 215,716,336RGDNCBI36
Celera1190,873,369 - 190,873,556RGD
Cytogenetic Map1q41UniSTS
HuRef1188,324,481 - 188,324,667UniSTS
Whitehead-YAC Contig Map1 UniSTS
RH94041  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371217,781,606 - 217,781,788UniSTSGRCh37
Build 361215,848,229 - 215,848,411RGDNCBI36
Celera1191,005,080 - 191,005,262RGD
Cytogenetic Map1q41UniSTS
HuRef1188,456,116 - 188,456,298UniSTS
GeneMap99-GB4 RH Map1705.18UniSTS
AL033883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371217,703,035 - 217,703,170UniSTSGRCh37
Build 361215,769,658 - 215,769,793RGDNCBI36
Celera1190,926,817 - 190,926,952RGD
Cytogenetic Map1q41UniSTS
HuRef1188,377,843 - 188,377,978UniSTS
RH103365  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371217,604,011 - 217,604,146UniSTSGRCh37
Build 361215,670,634 - 215,670,769RGDNCBI36
Celera1190,827,861 - 190,827,996RGD
Cytogenetic Map1q41UniSTS
HuRef1188,279,098 - 188,279,233UniSTS
GeneMap99-GB4 RH Map1705.18UniSTS
SHGC-83915  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371217,676,779 - 217,677,105UniSTSGRCh37
Build 361215,743,402 - 215,743,728RGDNCBI36
Celera1190,900,624 - 190,900,950RGD
Cytogenetic Map1q41UniSTS
HuRef1188,351,734 - 188,352,060UniSTS
TNG Radiation Hybrid Map1108254.0UniSTS
SHGC-76374  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371217,603,966 - 217,604,099UniSTSGRCh37
Build 361215,670,589 - 215,670,722RGDNCBI36
Celera1190,827,816 - 190,827,949RGD
Cytogenetic Map1q41UniSTS
HuRef1188,279,053 - 188,279,186UniSTS
TNG Radiation Hybrid Map1108227.0UniSTS
GeneMap99-GB4 RH Map1705.93UniSTS
NCBI RH Map11895.3UniSTS
GPATC2__7534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371217,603,664 - 217,604,548UniSTSGRCh37
Build 361215,670,287 - 215,671,171RGDNCBI36
Celera1190,827,514 - 190,828,398RGD
HuRef1188,278,751 - 188,279,635UniSTS
SHGC-76358  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371217,793,418 - 217,793,540UniSTSGRCh37
Build 361215,860,041 - 215,860,163RGDNCBI36
Celera1191,016,884 - 191,017,006RGD
Cytogenetic Map1q41UniSTS
HuRef1188,467,915 - 188,468,037UniSTS
TNG Radiation Hybrid Map1108313.0UniSTS
GeneMap99-GB4 RH Map1705.18UniSTS
NCBI RH Map11892.9UniSTS
SHGC-76371  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371217,692,229 - 217,692,340UniSTSGRCh37
Build 361215,758,852 - 215,758,963RGDNCBI36
Celera1190,916,074 - 190,916,185RGD
Cytogenetic Map1q41UniSTS
HuRef1188,367,183 - 188,367,294UniSTS
TNG Radiation Hybrid Map1108266.0UniSTS
GeneMap99-GB4 RH Map1705.18UniSTS
NCBI RH Map11892.9UniSTS
STS-AA026113  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371217,793,304 - 217,793,538UniSTSGRCh37
Build 361215,859,927 - 215,860,161RGDNCBI36
Celera1191,016,770 - 191,017,004RGD
Cytogenetic Map1q41UniSTS
HuRef1188,467,801 - 188,468,035UniSTS
GeneMap99-GB4 RH Map1703.82UniSTS
RH70655  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37132,797,699 - 32,798,646UniSTSGRCh37
GRCh371217,725,971 - 217,726,223UniSTSGRCh37
Build 361215,792,594 - 215,792,846RGDNCBI36
Celera131,068,166 - 31,069,113UniSTS
Celera1190,949,751 - 190,950,003RGD
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q41UniSTS
HuRef130,913,007 - 30,913,954UniSTS
GeneMap99-GB4 RH Map1707.33UniSTS
AL009396  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371217,620,183 - 217,620,336UniSTSGRCh37
Build 361215,686,806 - 215,686,959RGDNCBI36
Celera1190,844,029 - 190,844,182RGD
Cytogenetic Map1q41UniSTS
HuRef1188,295,266 - 188,295,419UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 39 11 37 11 61 11 58 25 79 35 273 131 7 1 6 2 2
Low 2400 2459 1688 612 1425 453 4273 2090 3609 384 1187 1482 167 1204 2756 4
Below cutoff 521 1 1 465 1 26 82 46 26

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_053034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001297754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_247030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_921856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_921858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC096641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA311820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS401370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB074192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000366934   ⟹   ENSP00000355901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1217,608,184 - 217,631,082 (-)Ensembl
RefSeq Acc Id: ENST00000366935   ⟹   ENSP00000355902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1217,426,992 - 217,631,090 (-)Ensembl
RefSeq Acc Id: ENST00000470014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1217,492,501 - 217,610,400 (-)Ensembl
RefSeq Acc Id: ENST00000485274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1217,498,180 - 217,610,379 (-)Ensembl
RefSeq Acc Id: ENST00000489246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1217,491,506 - 217,498,764 (-)Ensembl
RefSeq Acc Id: NM_001297754   ⟹   NP_001284683
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381217,608,189 - 217,631,090 (-)NCBI
CHM1_11219,054,309 - 219,077,212 (-)NCBI
T2T-CHM13v2.01216,849,226 - 216,872,104 (-)NCBI
Sequence:
RefSeq Acc Id: NM_018040   ⟹   NP_060510
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381217,426,992 - 217,631,090 (-)NCBI
GRCh371217,603,834 - 217,804,426 (-)NCBI
Build 361215,670,457 - 215,871,032 (-)NCBI Archive
Celera1190,827,684 - 191,027,875 (-)RGD
HuRef1188,278,921 - 188,478,906 (-)ENTREZGENE
CHM1_11218,873,188 - 219,077,212 (-)NCBI
T2T-CHM13v2.01216,668,052 - 216,872,104 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509689   ⟹   XP_011507991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381217,426,992 - 217,631,090 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509690   ⟹   XP_011507992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381217,426,992 - 217,631,090 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509694   ⟹   XP_011507996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381217,545,624 - 217,631,090 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001592   ⟹   XP_016857081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381217,426,992 - 217,631,090 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001593   ⟹   XP_016857082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381217,491,859 - 217,631,090 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047423792   ⟹   XP_047279748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381217,491,687 - 217,631,090 (-)NCBI
RefSeq Acc Id: XM_047423800   ⟹   XP_047279756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381217,510,404 - 217,631,090 (-)NCBI
RefSeq Acc Id: XM_047423801   ⟹   XP_047279757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381217,491,859 - 217,631,090 (-)NCBI
RefSeq Acc Id: XM_054337317   ⟹   XP_054193292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01216,668,052 - 216,872,104 (-)NCBI
RefSeq Acc Id: XM_054337318   ⟹   XP_054193293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01216,668,052 - 216,872,104 (-)NCBI
RefSeq Acc Id: XM_054337319   ⟹   XP_054193294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01216,668,052 - 216,872,104 (-)NCBI
RefSeq Acc Id: XM_054337320   ⟹   XP_054193295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01216,732,919 - 216,872,104 (-)NCBI
RefSeq Acc Id: XM_054337321   ⟹   XP_054193296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01216,732,747 - 216,872,104 (-)NCBI
RefSeq Acc Id: XM_054337322   ⟹   XP_054193297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01216,753,374 - 216,872,104 (-)NCBI
RefSeq Acc Id: XM_054337323   ⟹   XP_054193298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01216,732,919 - 216,872,104 (-)NCBI
RefSeq Acc Id: XM_054337324   ⟹   XP_054193299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01216,786,939 - 216,872,104 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001284683 (Get FASTA)   NCBI Sequence Viewer  
  NP_060510 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507991 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507992 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507996 (Get FASTA)   NCBI Sequence Viewer  
  XP_016857081 (Get FASTA)   NCBI Sequence Viewer  
  XP_016857082 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279748 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279756 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279757 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193292 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193293 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193294 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193295 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193296 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193297 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193298 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193299 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH27719 (Get FASTA)   NCBI Sequence Viewer  
  AAH42193 (Get FASTA)   NCBI Sequence Viewer  
  AAH63474 (Get FASTA)   NCBI Sequence Viewer  
  BAA91509 (Get FASTA)   NCBI Sequence Viewer  
  BAF83927 (Get FASTA)   NCBI Sequence Viewer  
  CAL40333 (Get FASTA)   NCBI Sequence Viewer  
  EAW93333 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000355901
  ENSP00000355901.3
  ENSP00000355902
  ENSP00000355902.3
GenBank Protein Q9NW75 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_060510   ⟸   NM_018040
- Peptide Label: isoform 1
- UniProtKB: Q5VYK8 (UniProtKB/Swiss-Prot),   Q5VYK7 (UniProtKB/Swiss-Prot),   Q86YE7 (UniProtKB/Swiss-Prot),   Q9NW75 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001284683   ⟸   NM_001297754
- Peptide Label: isoform 2
- UniProtKB: A8K5C3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011507992   ⟸   XM_011509690
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011507991   ⟸   XM_011509689
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011507996   ⟸   XM_011509694
- Peptide Label: isoform X7
- UniProtKB: A8K5C3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016857081   ⟸   XM_017001592
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016857082   ⟸   XM_017001593
- Peptide Label: isoform X4
- UniProtKB: A8K5C3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000355901   ⟸   ENST00000366934
RefSeq Acc Id: ENSP00000355902   ⟸   ENST00000366935
RefSeq Acc Id: XP_047279748   ⟸   XM_047423792
- Peptide Label: isoform X4
- UniProtKB: A8K5C3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047279757   ⟸   XM_047423801
- Peptide Label: isoform X6
- UniProtKB: A8K5C3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047279756   ⟸   XM_047423800
- Peptide Label: isoform X5
- UniProtKB: A8K5C3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193294   ⟸   XM_054337319
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054193293   ⟸   XM_054337318
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054193292   ⟸   XM_054337317
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054193296   ⟸   XM_054337321
- Peptide Label: isoform X4
- UniProtKB: A8K5C3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193298   ⟸   XM_054337323
- Peptide Label: isoform X6
- UniProtKB: A8K5C3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193295   ⟸   XM_054337320
- Peptide Label: isoform X4
- UniProtKB: A8K5C3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193297   ⟸   XM_054337322
- Peptide Label: isoform X5
- UniProtKB: A8K5C3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193299   ⟸   XM_054337324
- Peptide Label: isoform X7
- UniProtKB: A8K5C3 (UniProtKB/TrEMBL)
Protein Domains
G-patch

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NW75-F1-model_v2 AlphaFold Q9NW75 1-528 view protein structure

Promoters
RGD ID:6785665
Promoter ID:HG_KWN:7344
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:OTTHUMT00000001272,   OTTHUMT00000091983,   OTTHUMT00000092433,   OTTHUMT00000092434,   UC001HLI.1,   UC009XDR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361215,870,751 - 215,871,251 (-)MPROMDB
RGD ID:6859006
Promoter ID:EPDNEW_H2667
Type:initiation region
Name:GPATCH2_1
Description:G-patch domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381217,631,067 - 217,631,127EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25499 AgrOrtholog
COSMIC GPATCH2 COSMIC
Ensembl Genes ENSG00000092978 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000366934 ENTREZGENE
  ENST00000366934.3 UniProtKB/Swiss-Prot
  ENST00000366935 ENTREZGENE
  ENST00000366935.8 UniProtKB/Swiss-Prot
GTEx ENSG00000092978 GTEx
HGNC ID HGNC:25499 ENTREZGENE
Human Proteome Map GPATCH2 Human Proteome Map
InterPro G_patch_dom UniProtKB/Swiss-Prot
NCBI Gene 55105 ENTREZGENE
OMIM 616836 OMIM
PANTHER G PATCH DOMAIN CONTAINING PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G PATCH DOMAIN-CONTAINING PROTEIN 2 UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
Pfam G-patch UniProtKB/Swiss-Prot
PharmGKB PA162390064 PharmGKB
PROSITE G_PATCH UniProtKB/Swiss-Prot
SMART G_patch UniProtKB/Swiss-Prot
UniProt A8K5C3 ENTREZGENE, UniProtKB/TrEMBL
  GPTC2_HUMAN UniProtKB/Swiss-Prot
  Q5VYK7 ENTREZGENE
  Q5VYK8 ENTREZGENE
  Q86YE7 ENTREZGENE
  Q9NW75 ENTREZGENE
UniProt Secondary Q5VYK7 UniProtKB/Swiss-Prot
  Q5VYK8 UniProtKB/Swiss-Prot
  Q86YE7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 GPATCH2  G-patch domain containing 2    G patch domain containing 2  Symbol and/or name change 5135510 APPROVED