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

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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
Description: Enables identical protein binding activity and transmembrane transporter binding activity. Involved in cytoplasmic sequestering of CFTR protein; 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 Genes
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.p13 Ensembl6117,560,269 - 117,602,542 (-)EnsemblGRCh38hg38GRCh38
GRCh376117,881,432 - 117,923,674 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366117,988,125 - 118,030,374 (-)NCBINCBI36hg18NCBI36
Build 346117,991,109 - 118,030,220NCBI
Celera6118,624,329 - 118,666,606 (-)NCBI
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 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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: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: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:34432599  
PMID:34709727  


Genomics

Comparative Map Data
GOPC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386117,560,269 - 117,602,511 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl6117,560,269 - 117,602,542 (-)EnsemblGRCh38hg38GRCh38
GRCh376117,881,432 - 117,923,674 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366117,988,125 - 118,030,374 (-)NCBINCBI36hg18NCBI36
Build 346117,991,109 - 118,030,220NCBI
Celera6118,624,329 - 118,666,606 (-)NCBI
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 (-)NCBI
Gopc
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391052,213,120 - 52,258,220 (-)NCBIGRCm39mm39
GRCm39 Ensembl1052,211,946 - 52,258,220 (-)Ensembl
GRCm381052,337,024 - 52,382,124 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1052,335,850 - 52,382,124 (-)EnsemblGRCm38mm10GRCm38
MGSCv371052,056,887 - 52,101,881 (-)NCBIGRCm37mm9NCBIm37
MGSCv361052,025,496 - 52,070,490 (-)NCBImm8
Celera1053,174,463 - 53,219,811 (-)NCBICelera
Cytogenetic Map10B3NCBI
Gopc
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22031,727,617 - 31,776,928 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl2031,727,620 - 31,776,903 (-)Ensembl
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 (-)NCBIRGSC3.4rn4RGSC3.4
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
ChiLan1.0NW_004955436743,616 - 777,878 (-)NCBIChiLan1.0ChiLan1.0
GOPC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.16119,509,936 - 119,552,010 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6119,509,936 - 119,552,010 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v06115,368,682 - 115,411,140 (-)NCBIMhudiblu_PPA_v0panPan3
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 (-)NCBI
ROS_Cfam_1.0157,970,112 - 58,010,164 (-)NCBI
UMICH_Zoey_3.1157,871,500 - 57,911,541 (-)NCBI
UNSW_CanFamBas_1.0157,712,463 - 57,752,507 (-)NCBI
UU_Cfam_GSD_1.0158,343,632 - 58,383,890 (-)NCBI
Gopc
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946108,509,927 - 108,548,999 (-)NCBI
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 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1356,229,810 - 56,272,830 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604028,567,387 - 28,608,428 (+)NCBIVero_WHO_p1.0
Gopc
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462479812,188,460 - 12,216,542 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
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

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.


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 2358 1921 1466 392 1193 236 3975 1588 3035 309 1442 1587 171 1 1181 2425 6 2
Low 81 1034 260 232 722 229 382 609 699 110 18 26 4 23 363
Below cutoff 36 36

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
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

Reference Sequences
RefSeq Acc Id: ENST00000052569   ⟹   ENSP00000052569
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6117,560,269 - 117,602,528 (-)Ensembl
RefSeq Acc Id: ENST00000368498   ⟹   ENSP00000357484
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6117,560,269 - 117,602,511 (-)Ensembl
RefSeq Acc Id: ENST00000535237   ⟹   ENSP00000445690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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:
Reference Sequences
RefSeq Acc Id: NP_001017408   ⟸   NM_001017408
- Peptide Label: isoform b
- UniProtKB: Q9HD26 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_065132   ⟸   NM_020399
- Peptide Label: isoform a
- UniProtKB: Q9HD26 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000445690   ⟸   ENST00000535237
RefSeq Acc Id: ENSP00000357484   ⟸   ENST00000368498
RefSeq Acc Id: ENSP00000052569   ⟸   ENST00000052569
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

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
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
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
uncertain significance

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 Protein ENSP00000052569 ENTREZGENE
  ENSP00000052569.6 UniProtKB/Swiss-Prot
  ENSP00000357484 ENTREZGENE
  ENSP00000357484.2 UniProtKB/Swiss-Prot
  ENSP00000445690.2 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 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 F5H1Y4_HUMAN UniProtKB/TrEMBL
  GOPC_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  T1WFC1_HUMAN 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