GOPC (golgi associated PDZ and coiled-coil motif containing) - Rat Genome Database

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Advanced Search (OLGA)
Gene: GOPC (golgi associated PDZ and coiled-coil motif containing) Homo sapiens
Analyze
Symbol: GOPC
Name: golgi associated PDZ and coiled-coil motif containing
RGD ID: 1319891
HGNC Page HGNC:17643
Description: Enables identical protein binding activity; molecular sequestering activity; and transmembrane transporter binding activity. Involved in negative regulation of anion channel activity and negative regulation of protein localization to cell surface. Located in Golgi apparatus; membrane; and trans-Golgi network transport vesicle. Part of protein-containing complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CAL; CFTR-associated ligand; dJ94G16.2; dJ94G16.2 PIST; FIG; fused in glioblastoma; Golgi associated PDZ and coiled-coil motif containing protein; golgi-associated PDZ and coiled-coil motif containing; Golgi-associated PDZ and coiled-coil motif-containing protein; GOPC1; PDZ protein interacting specifically with TC10; PDZ/coiled-coil domain binding partner for the rho-family GTPase TC10; PIST
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386117,560,269 - 117,602,511 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6117,560,269 - 117,602,542 (-)EnsemblGRCh38hg38GRCh38
GRCh376117,881,432 - 117,923,674 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366117,988,125 - 118,030,374 (-)NCBINCBI36Build 36hg18NCBI36
Build 346117,991,109 - 118,030,220NCBI
Celera6118,624,329 - 118,666,606 (-)NCBICelera
Cytogenetic Map6q22.1NCBI
HuRef6115,462,063 - 115,504,349 (-)NCBIHuRef
CHM1_16118,145,375 - 118,187,647 (-)NCBICHM1_1
T2T-CHM13v2.06118,744,505 - 118,786,752 (-)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

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. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9843494   PMID:11162552   PMID:11384996   PMID:11520064   PMID:11707463   PMID:12149515   PMID:12372286   PMID:12471024   PMID:12477932   PMID:12538861   PMID:12661006   PMID:12885772  
PMID:14570915   PMID:14574404   PMID:15144186   PMID:15317815   PMID:15358775   PMID:15489334   PMID:15546864   PMID:15951434   PMID:16012170   PMID:16189514   PMID:16192284   PMID:16263117  
PMID:16316992   PMID:16344560   PMID:16646955   PMID:16878151   PMID:16882988   PMID:17158866   PMID:17207965   PMID:18029348   PMID:18468998   PMID:18754678   PMID:19027007   PMID:19071123  
PMID:19860857   PMID:20130090   PMID:20195357   PMID:21105033   PMID:21516116   PMID:21543871   PMID:21873635   PMID:21988832   PMID:22610098   PMID:22658674   PMID:22863883   PMID:22939629  
PMID:23266556   PMID:23545662   PMID:23576434   PMID:23818989   PMID:23966943   PMID:24154728   PMID:24210758   PMID:24613305   PMID:24722188   PMID:24999209   PMID:25231053   PMID:25416956  
PMID:25609649   PMID:25614626   PMID:25876703   PMID:25900982   PMID:26115868   PMID:26179146   PMID:26186194   PMID:26496610   PMID:26638075   PMID:26871637   PMID:26972000   PMID:27107014  
PMID:27173435   PMID:27229929   PMID:27432908   PMID:27867666   PMID:27880917   PMID:28360110   PMID:28514442   PMID:28524877   PMID:28675297   PMID:29395067   PMID:29568061   PMID:29892012  
PMID:30639242   PMID:30726710   PMID:31056421   PMID:31073978   PMID:31091453   PMID:31177093   PMID:31324722   PMID:31515488   PMID:31617661   PMID:31626289   PMID:31678930   PMID:31732153  
PMID:31753913   PMID:31871319   PMID:31980649   PMID:32203420   PMID:32296183   PMID:32877691   PMID:33001583   PMID:33359402   PMID:33545068   PMID:33658012   PMID:33957083   PMID:33961781  
PMID:34079125   PMID:34189442   PMID:34369648   PMID:34432599   PMID:34597346   PMID:34672954   PMID:34709727   PMID:35256949   PMID:35384245   PMID:35439318   PMID:35696571   PMID:35831314  
PMID:35844135   PMID:35987950   PMID:36012204   PMID:36215168   PMID:36610398   PMID:36736316   PMID:36976175   PMID:37774976   PMID:37931956   PMID:38117590   PMID:38569033  


Genomics

Comparative Map Data
GOPC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386117,560,269 - 117,602,511 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6117,560,269 - 117,602,542 (-)EnsemblGRCh38hg38GRCh38
GRCh376117,881,432 - 117,923,674 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366117,988,125 - 118,030,374 (-)NCBINCBI36Build 36hg18NCBI36
Build 346117,991,109 - 118,030,220NCBI
Celera6118,624,329 - 118,666,606 (-)NCBICelera
Cytogenetic Map6q22.1NCBI
HuRef6115,462,063 - 115,504,349 (-)NCBIHuRef
CHM1_16118,145,375 - 118,187,647 (-)NCBICHM1_1
T2T-CHM13v2.06118,744,505 - 118,786,752 (-)NCBIT2T-CHM13v2.0
Gopc
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391052,213,120 - 52,258,220 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1052,211,946 - 52,258,220 (-)EnsemblGRCm39 Ensembl
GRCm381052,337,024 - 52,382,124 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1052,335,850 - 52,382,124 (-)EnsemblGRCm38mm10GRCm38
MGSCv371052,056,887 - 52,101,881 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361052,025,496 - 52,070,490 (-)NCBIMGSCv36mm8
Celera1053,174,463 - 53,219,811 (-)NCBICelera
Cytogenetic Map10B3NCBI
cM Map1026.54NCBI
Gopc
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82032,270,314 - 32,319,635 (-)NCBIGRCr8
mRatBN7.22031,727,617 - 31,776,904 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2031,727,620 - 31,776,903 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2032,726,053 - 32,781,732 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02032,116,963 - 32,172,643 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02032,853,588 - 32,902,883 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02033,471,355 - 33,521,281 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2033,471,351 - 33,521,311 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02035,250,254 - 35,299,353 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42031,055,284 - 31,105,701 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12031,071,736 - 31,119,338 (-)NCBI
Celera2033,125,468 - 33,174,815 (-)NCBICelera
Cytogenetic Map20q11NCBI
Gopc
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955436742,305 - 777,566 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955436743,616 - 777,878 (-)NCBIChiLan1.0ChiLan1.0
GOPC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25137,574,230 - 137,619,713 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16135,467,252 - 135,512,718 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06115,368,682 - 115,411,140 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16119,509,936 - 119,552,010 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6119,509,936 - 119,552,010 (-)Ensemblpanpan1.1panPan2
GOPC
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1157,790,118 - 57,829,022 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl157,792,647 - 57,828,820 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha158,589,110 - 58,629,156 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0157,970,112 - 58,010,164 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl157,970,099 - 58,011,073 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1157,871,500 - 57,911,541 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0157,712,463 - 57,752,507 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0158,343,632 - 58,383,890 (-)NCBIUU_Cfam_GSD_1.0
Gopc
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946108,509,927 - 108,548,999 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936658614,476 - 655,905 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936658614,711 - 655,874 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GOPC
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl144,239,383 - 44,287,198 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1144,239,364 - 44,285,886 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2149,584,131 - 49,631,566 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GOPC
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11356,229,780 - 56,270,829 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1356,229,810 - 56,272,830 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604028,567,387 - 28,608,428 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gopc
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462479812,188,635 - 12,218,305 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462479812,188,460 - 12,216,542 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GOPC
27 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 copy number loss See cases [RCV000051196] Chr6:108944899..132067720 [GRCh38]
Chr6:109266102..132388860 [GRCh37]
Chr6:109372795..132430553 [NCBI36]
Chr6:6q21-23.2		 pathogenic
GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1 copy number loss See cases [RCV000052196] Chr6:115601230..128514324 [GRCh38]
Chr6:115922394..128835469 [GRCh37]
Chr6:116029087..128877162 [NCBI36]
Chr6:6q22.1-22.33		 pathogenic
GRCh38/hg38 6q22.1(chr6:117206991-117881842)x3 copy number gain See cases [RCV000053369] Chr6:117206991..117881842 [GRCh38]
Chr6:117528154..118203005 [GRCh37]
Chr6:117634847..118309698 [NCBI36]
Chr6:6q22.1		 uncertain significance
GRCh38/hg38 6q22.1-22.2(chr6:115326962-117935240)x1 copy number loss See cases [RCV000135623] Chr6:115326962..117935240 [GRCh38]
Chr6:115648126..118256403 [GRCh37]
Chr6:115754819..118363096 [NCBI36]
Chr6:6q22.1-22.2		 likely pathogenic
GRCh38/hg38 6q22.1-22.31(chr6:116815199-119718887)x1 copy number loss See cases [RCV000139944] Chr6:116815199..119718887 [GRCh38]
Chr6:117136362..120040041 [GRCh37]
Chr6:117243055..120081740 [NCBI36]
Chr6:6q22.1-22.31		 likely pathogenic
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1		 pathogenic
GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1 copy number loss See cases [RCV000139465] Chr6:96609994..122161548 [GRCh38]
Chr6:97057870..122482694 [GRCh37]
Chr6:97164591..122524393 [NCBI36]
Chr6:6q16.1-22.31		 pathogenic
GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 copy number loss See cases [RCV000141587] Chr6:106503719..125781219 [GRCh38]
Chr6:106951594..126102365 [GRCh37]
Chr6:107058287..126144058 [NCBI36]
Chr6:6q21-22.31		 pathogenic
GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1 copy number loss See cases [RCV000143227] Chr6:100054889..120488154 [GRCh38]
Chr6:100502765..120809300 [GRCh37]
Chr6:100609486..120850999 [NCBI36]
Chr6:6q16.3-22.31		 pathogenic
NC_000006.11:g.(117810940_117810996)_(119417693_119417749)del deletion Autistic behavior [RCV000157072] Chr6:117810996..119417693 [GRCh37]
Chr6:6q22.1-22.31		 pathogenic
NC_000006.11:g.(112511751_112511752)_(118037595_118037596)del deletion Dysmorphic features [RCV000157073] Chr6:112511752..118037595 [GRCh37]
Chr6:6q21-22.1		 pathogenic
NC_000006.11:g.(116681080_116735056)_(119687719_119775014)del deletion Delayed speech and language development [RCV000157076] Chr6:116735056..119687719 [GRCh37]
Chr6:6q22.1-22.31		 pathogenic
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 copy number loss See cases [RCV000445666] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31		 pathogenic
GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1 copy number loss 6q21-6q22.1 deletion [RCV000416567] Chr6:112069445..120994664 [GRCh37]
Chr6:6q21-22.31		 likely pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_020399.4(GOPC):c.162G>C (p.Glu54Asp) single nucleotide variant not specified [RCV004301067] Chr6:117602127 [GRCh38]
Chr6:117923290 [GRCh37]
Chr6:6q22.1		 uncertain significance
GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626432] Chr6:112939290..132327952 [GRCh37]
Chr6:6q21-23.2		 drug response
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
Single allele deletion Interstitial 6q microdeletion syndrome [RCV002280353] Chr6:115941808..133892653 [GRCh38]
Chr6:6q22.1-23.2		 pathogenic
GRCh37/hg19 6q22.1-22.31(chr6:117746455-118649226)x1 copy number loss not provided [RCV000846706] Chr6:117746455..118649226 [GRCh37]
Chr6:6q22.1-22.31		 uncertain significance
GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1 copy number loss not provided [RCV000848701] Chr6:110981075..119608396 [GRCh37]
Chr6:6q21-22.31		 pathogenic
NC_000006.11:g.116734559_123648104del deletion Seizure [RCV001256147] Chr6:116734559..123648104 [GRCh37]
Chr6:6q22.1-22.31		 pathogenic
GRCh37/hg19 6q22.1(chr6:117190128-117881578)x3 copy number gain not provided [RCV001259398] Chr6:117190128..117881578 [GRCh37]
Chr6:6q22.1		 uncertain significance
GRCh37/hg19 6q22.1-22.31(chr6:117441803-123349672)x3 copy number gain not provided [RCV001836590] Chr6:117441803..123349672 [GRCh37]
Chr6:6q22.1-22.31		 likely pathogenic
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687) copy number loss not specified [RCV002053595] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31		 pathogenic
GRCh37/hg19 6q15-22.2(chr6:92054891-118329651) copy number loss not specified [RCV002053598] Chr6:92054891..118329651 [GRCh37]
Chr6:6q15-22.2		 pathogenic
GRCh37/hg19 6q22.1-22.31(chr6:116212698-119482708) copy number loss not specified [RCV002053610] Chr6:116212698..119482708 [GRCh37]
Chr6:6q22.1-22.31		 pathogenic|uncertain significance
NC_000006.11:g.(?_116441236)_(119252888_?)del deletion Congenital disorder of glycosylation, type IAA [RCV003123076] Chr6:116441236..119252888 [GRCh37]
Chr6:6q22.1-22.31		 pathogenic
NC_000006.11:g.(?_117786180)_(117997268_?)dup duplication Congenital disorder of glycosylation, type IAA [RCV003123077] Chr6:117786180..117997268 [GRCh37]
Chr6:6q22.1		 uncertain significance
NM_020399.4(GOPC):c.1265A>G (p.Asn422Ser) single nucleotide variant not specified [RCV004123773] Chr6:117563378 [GRCh38]
Chr6:117884541 [GRCh37]
Chr6:6q22.1		 uncertain significance
NM_020399.4(GOPC):c.1370A>G (p.Tyr457Cys) single nucleotide variant not specified [RCV004185307] Chr6:117563273 [GRCh38]
Chr6:117884436 [GRCh37]
Chr6:6q22.1		 uncertain significance
NM_020399.4(GOPC):c.937A>G (p.Ile313Val) single nucleotide variant not specified [RCV004130052] Chr6:117569712 [GRCh38]
Chr6:117890875 [GRCh37]
Chr6:6q22.1		 uncertain significance
NM_020399.4(GOPC):c.215G>T (p.Ser72Ile) single nucleotide variant not specified [RCV004167326] Chr6:117602074 [GRCh38]
Chr6:117923237 [GRCh37]
Chr6:6q22.1		 uncertain significance
NM_020399.4(GOPC):c.1358T>C (p.Leu453Pro) single nucleotide variant not specified [RCV004196755] Chr6:117563285 [GRCh38]
Chr6:117884448 [GRCh37]
Chr6:6q22.1		 uncertain significance
NM_020399.4(GOPC):c.68G>A (p.Gly23Glu) single nucleotide variant not specified [RCV004179579] Chr6:117602221 [GRCh38]
Chr6:117923384 [GRCh37]
Chr6:6q22.1		 uncertain significance
NM_020399.4(GOPC):c.955C>T (p.His319Tyr) single nucleotide variant not specified [RCV004086379] Chr6:117569694 [GRCh38]
Chr6:117890857 [GRCh37]
Chr6:6q22.1		 uncertain significance
NM_020399.4(GOPC):c.7G>A (p.Ala3Thr) single nucleotide variant not specified [RCV004084744] Chr6:117602282 [GRCh38]
Chr6:117923445 [GRCh37]
Chr6:6q22.1		 uncertain significance
NM_020399.4(GOPC):c.182A>G (p.Asp61Gly) single nucleotide variant not specified [RCV004279313] Chr6:117602107 [GRCh38]
Chr6:117923270 [GRCh37]
Chr6:6q22.1		 uncertain significance
NM_020399.4(GOPC):c.374A>G (p.Gln125Arg) single nucleotide variant not specified [RCV004251219] Chr6:117578976 [GRCh38]
Chr6:117900139 [GRCh37]
Chr6:6q22.1		 uncertain significance
GRCh37/hg19 6q21-22.31(chr6:112713854-124105184) copy number loss 6q terminal deletion syndrome [RCV003319582] Chr6:112713854..124105184 [GRCh37]
Chr6:6q21-22.31		 likely pathogenic
GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1 copy number loss Intellectual disability, autosomal dominant 55, with seizures [RCV003327704] Chr6:113857248..130442177 [GRCh38]
Chr6:6q21-23.1		 pathogenic
NM_020399.4(GOPC):c.55T>C (p.Ser19Pro) single nucleotide variant not specified [RCV004365632] Chr6:117602234 [GRCh38]
Chr6:117923397 [GRCh37]
Chr6:6q22.1		 uncertain significance
NM_020399.4(GOPC):c.761G>A (p.Arg254Gln) single nucleotide variant not specified [RCV004343877] Chr6:117573522 [GRCh38]
Chr6:117894685 [GRCh37]
Chr6:6q22.1		 uncertain significance
NM_020399.4(GOPC):c.115A>G (p.Lys39Glu) single nucleotide variant not specified [RCV004359249] Chr6:117602174 [GRCh38]
Chr6:117923337 [GRCh37]
Chr6:6q22.1		 uncertain significance
NM_020399.4(GOPC):c.1134T>C (p.Asp378=) single nucleotide variant not provided [RCV003428934] Chr6:117566978 [GRCh38]
Chr6:117888141 [GRCh37]
Chr6:6q22.1		 likely benign
NM_020399.4(GOPC):c.441G>A (p.Lys147=) single nucleotide variant not provided [RCV003428935] Chr6:117578909 [GRCh38]
Chr6:117900072 [GRCh37]
Chr6:6q22.1		 likely benign
NM_020399.4(GOPC):c.158G>A (p.Gly53Glu) single nucleotide variant not provided [RCV003432023] Chr6:117602131 [GRCh38]
Chr6:117923294 [GRCh37]
Chr6:6q22.1		 likely benign
GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3 copy number gain not specified [RCV003986625] Chr6:110546061..131896074 [GRCh37]
Chr6:6q21-23.2		 likely pathogenic
NM_020399.4(GOPC):c.482A>G (p.Glu161Gly) single nucleotide variant not specified [RCV004395862] Chr6:117575345 [GRCh38]
Chr6:117896508 [GRCh37]
Chr6:6q22.1		 uncertain significance
NM_020399.4(GOPC):c.1237G>C (p.Gly413Arg) single nucleotide variant not specified [RCV004395859] Chr6:117566875 [GRCh38]
Chr6:117888038 [GRCh37]
Chr6:6q22.1		 uncertain significance
NM_020399.4(GOPC):c.8C>T (p.Ala3Val) single nucleotide variant not specified [RCV004395863] Chr6:117602281 [GRCh38]
Chr6:117923444 [GRCh37]
Chr6:6q22.1		 uncertain significance
NM_020399.4(GOPC):c.46G>C (p.Gly16Arg) single nucleotide variant not specified [RCV004395861] Chr6:117602243 [GRCh38]
Chr6:117923406 [GRCh37]
Chr6:6q22.1		 uncertain significance
NM_020399.4(GOPC):c.1315A>C (p.Ser439Arg) single nucleotide variant not specified [RCV004395860] Chr6:117563328 [GRCh38]
Chr6:117884491 [GRCh37]
Chr6:6q22.1		 uncertain significance
NM_020399.4(GOPC):c.1159A>C (p.Ser387Arg) single nucleotide variant not specified [RCV004395858] Chr6:117566953 [GRCh38]
Chr6:117888116 [GRCh37]
Chr6:6q22.1		 uncertain significance
GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1 copy number loss not provided [RCV004577478] Chr6:109324789..124836619 [GRCh37]
Chr6:6q21-22.31		 pathogenic
NM_020399.4(GOPC):c.907A>G (p.Ile303Val) single nucleotide variant not specified [RCV004395864] Chr6:117570865 [GRCh38]
Chr6:117892028 [GRCh37]
Chr6:6q22.1		 uncertain significance
NM_020399.4(GOPC):c.1175G>A (p.Arg392His) single nucleotide variant not specified [RCV004623953] Chr6:117566937 [GRCh38]
Chr6:117888100 [GRCh37]
Chr6:6q22.1		 uncertain significance
NM_020399.4(GOPC):c.1174C>T (p.Arg392Cys) single nucleotide variant not specified [RCV004630072] Chr6:117566938 [GRCh38]
Chr6:117888101 [GRCh37]
Chr6:6q22.1		 uncertain significance
NM_020399.4(GOPC):c.1048A>G (p.Lys350Glu) single nucleotide variant not specified [RCV004630073] Chr6:117569601 [GRCh38]
Chr6:117890764 [GRCh37]
Chr6:6q22.1		 uncertain significance
NM_020399.4(GOPC):c.1336G>A (p.Gly446Ser) single nucleotide variant not specified [RCV004630071] Chr6:117563307 [GRCh38]
Chr6:117884470 [GRCh37]
Chr6:6q22.1		 likely benign
NM_020399.4(GOPC):c.677G>A (p.Arg226Gln) single nucleotide variant not specified [RCV004630074] Chr6:117573606 [GRCh38]
Chr6:117894769 [GRCh37]
Chr6:6q22.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3287
Count of miRNA genes:707
Interacting mature miRNAs:836
Transcripts:ENST00000052569, ENST00000368498, ENST00000467125, ENST00000535237
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407014752GWAS663728_Hbody height QTL GWAS663728 (human)7e-09body height (VT:0001253)body height (CMO:0000106)6117571941117571942Human
407284746GWAS933722_Hbody height QTL GWAS933722 (human)1e-182body height (VT:0001253)body height (CMO:0000106)6117560442117560443Human
407336363GWAS985339_Hsystolic blood pressure QTL GWAS985339 (human)2e-10systolic blood pressuresystolic blood pressure (CMO:0000004)6117598212117598213Human

Markers in Region
HSC1FH112  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376117,881,494 - 117,881,716UniSTSGRCh37
Build 366117,988,187 - 117,988,409RGDNCBI36
Celera6118,624,391 - 118,624,613RGD
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map6q21UniSTS
HuRef6115,462,125 - 115,462,347UniSTS
GeneMap99-GB4 RH Map6493.72UniSTS
Whitehead-RH Map6712.7UniSTS
RH46698  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376117,881,563 - 117,881,719UniSTSGRCh37
Build 366117,988,256 - 117,988,412RGDNCBI36
Celera6118,624,460 - 118,624,616RGD
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map6q21UniSTS
HuRef6115,462,194 - 115,462,350UniSTS
GeneMap99-GB4 RH Map6494.26UniSTS
G59552  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376117,881,563 - 117,881,713UniSTSGRCh37
Build 366117,988,256 - 117,988,406RGDNCBI36
Celera6118,624,460 - 118,624,610RGD
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map6q21UniSTS
HuRef6115,462,194 - 115,462,344UniSTS
TNG Radiation Hybrid Map657180.0UniSTS
G20471  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376117,881,587 - 117,881,700UniSTSGRCh37
Build 366117,988,280 - 117,988,393RGDNCBI36
Celera6118,624,484 - 118,624,597RGD
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map6q21UniSTS
HuRef6115,462,218 - 115,462,331UniSTS
A005S47  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376117,881,587 - 117,881,700UniSTSGRCh37
Build 366117,988,280 - 117,988,393RGDNCBI36
Celera6118,624,484 - 118,624,597RGD
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map6q21UniSTS
HuRef6115,462,218 - 115,462,331UniSTS
GeneMap99-GB4 RH Map6493.72UniSTS
RH47666  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376117,882,938 - 117,883,078UniSTSGRCh37
Build 366117,989,631 - 117,989,771RGDNCBI36
Celera6118,625,835 - 118,625,975RGD
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map6q21UniSTS
HuRef6115,463,569 - 115,463,709UniSTS
GeneMap99-GB4 RH Map6494.26UniSTS
RH68126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376117,896,580 - 117,896,808UniSTSGRCh37
Build 366118,003,273 - 118,003,501RGDNCBI36
Celera6118,639,477 - 118,639,705RGD
Cytogenetic Map6q21UniSTS
HuRef6115,477,211 - 115,477,439UniSTS
GeneMap99-GB4 RH Map6493.72UniSTS
AL022535  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376117,908,611 - 117,908,764UniSTSGRCh37
Build 366118,015,304 - 118,015,457RGDNCBI36
Celera6118,651,512 - 118,651,665RGD
Cytogenetic Map6q21UniSTS
HuRef6115,489,252 - 115,489,405UniSTS


Expression

RNA-SEQ Expression

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 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001017408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF287894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF450008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ420540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL589939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY033606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX419592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA109449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF420122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF420123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z85999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000052569   ⟹   ENSP00000052569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6117,560,269 - 117,602,528 (-)Ensembl
Ensembl Acc Id: ENST00000368498   ⟹   ENSP00000357484
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6117,560,269 - 117,602,511 (-)Ensembl
Ensembl Acc Id: ENST00000535237   ⟹   ENSP00000445690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6117,560,272 - 117,602,542 (-)Ensembl
RefSeq Acc Id: NM_001017408   ⟹   NP_001017408
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386117,560,269 - 117,602,511 (-)NCBI
GRCh376117,881,432 - 117,923,705 (-)ENTREZGENE
Build 366117,988,125 - 118,030,374 (-)NCBI Archive
HuRef6115,462,063 - 115,504,349 (-)ENTREZGENE
CHM1_16118,145,375 - 118,187,647 (-)NCBI
T2T-CHM13v2.06118,744,505 - 118,786,752 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020399   ⟹   NP_065132
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386117,560,269 - 117,602,511 (-)NCBI
GRCh376117,881,432 - 117,923,705 (-)ENTREZGENE
Build 366117,988,125 - 118,030,374 (-)NCBI Archive
HuRef6115,462,063 - 115,504,349 (-)ENTREZGENE
CHM1_16118,145,375 - 118,187,647 (-)NCBI
T2T-CHM13v2.06118,744,505 - 118,786,752 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054355977   ⟹   XP_054211952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06118,744,505 - 118,786,752 (-)NCBI
RefSeq Acc Id: NP_001017408   ⟸   NM_001017408
- Peptide Label: isoform b
- UniProtKB: T1WFC1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_065132   ⟸   NM_020399
- Peptide Label: isoform a
- UniProtKB: Q59FS4 (UniProtKB/Swiss-Prot),   A6NM30 (UniProtKB/Swiss-Prot),   Q969U8 (UniProtKB/Swiss-Prot),   Q9HD26 (UniProtKB/Swiss-Prot),   F5H1Y4 (UniProtKB/TrEMBL),   T1WEI3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000445690   ⟸   ENST00000535237
Ensembl Acc Id: ENSP00000357484   ⟸   ENST00000368498
Ensembl Acc Id: ENSP00000052569   ⟸   ENST00000052569
RefSeq Acc Id: XP_054211952   ⟸   XM_054355977
- Peptide Label: isoform X1
Protein Domains
PDZ

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9HD26-F1-model_v2 AlphaFold Q9HD26 1-462 view protein structure

Promoters
RGD ID:7208997
Promoter ID:EPDNEW_H10244
Type:initiation region
Name:GOPC_3
Description:golgi associated PDZ and coiled-coil motif containing
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10245  EPDNEW_H10246  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386117,560,868 - 117,560,928EPDNEW
RGD ID:7208999
Promoter ID:EPDNEW_H10245
Type:initiation region
Name:GOPC_1
Description:golgi associated PDZ and coiled-coil motif containing
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10244  EPDNEW_H10246  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386117,602,492 - 117,602,552EPDNEW
RGD ID:6804273
Promoter ID:HG_KWN:54806
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:ENST00000368498,   OTTHUMT00000041987
Position:
Human AssemblyChrPosition (strand)Source
Build 366118,030,126 - 118,030,626 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17643 AgrOrtholog
COSMIC GOPC COSMIC
Ensembl Genes ENSG00000047932 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000052569 ENTREZGENE
  ENST00000052569.10 UniProtKB/Swiss-Prot
  ENST00000368498 ENTREZGENE
  ENST00000368498.7 UniProtKB/Swiss-Prot
  ENST00000535237.2 UniProtKB/TrEMBL
Gene3D-CATH 2.30.42.10 UniProtKB/Swiss-Prot
GTEx ENSG00000047932 GTEx
HGNC ID HGNC:17643 ENTREZGENE
Human Proteome Map GOPC Human Proteome Map
InterPro GOPC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot
  PDZ_sf UniProtKB/Swiss-Prot
KEGG Report hsa:57120 UniProtKB/Swiss-Prot
NCBI Gene 57120 ENTREZGENE
OMIM 606845 OMIM
PANTHER GOLGI-ASSOCIATED PDZ AND COILED-COIL MOTIF-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR16528 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PDZ UniProtKB/Swiss-Prot
PharmGKB PA134904944 PharmGKB
PROSITE PDZ UniProtKB/Swiss-Prot
SMART PDZ UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50156 UniProtKB/Swiss-Prot
UniProt A6NM30 ENTREZGENE
  F5H1Y4 ENTREZGENE, UniProtKB/TrEMBL
  GOPC_HUMAN UniProtKB/Swiss-Prot
  Q59FS4 ENTREZGENE
  Q969U8 ENTREZGENE
  Q9HD26 ENTREZGENE
  T1WEI3 ENTREZGENE
  T1WFC1 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A6NM30 UniProtKB/Swiss-Prot
  Q59FS4 UniProtKB/Swiss-Prot
  Q969U8 UniProtKB/Swiss-Prot
  T1WEI3 UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 GOPC  golgi associated PDZ and coiled-coil motif containing    golgi-associated PDZ and coiled-coil motif containing  Symbol and/or name change 5135510 APPROVED
2011-07-27 GOPC  golgi-associated PDZ and coiled-coil motif containing  GOPC  golgi associated PDZ and coiled-coil motif containing  Symbol and/or name change 5135510 APPROVED