GOLGA7 (golgin A7) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: GOLGA7 (golgin A7) Homo sapiens
Analyze
Symbol: GOLGA7
Name: golgin A7
RGD ID: 1351077
HGNC Page HGNC
Description: Involved in Golgi to plasma membrane protein transport; peptidyl-L-cysteine S-palmitoylation; and protein stabilization. Acts upstream of or within Golgi to plasma membrane transport. Located in Golgi membrane and Golgi stack. Is intrinsic component of Golgi membrane. Part of palmitoyltransferase complex; INTERACTS WITH 2-hydroxypropanoic acid; 3-isobutyl-1-methyl-7H-xanthine; bisphenol A.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: GCP16; GOLGA3AP1; GOLGA7A; golgi autoantigen, golgin subfamily a, 7; golgi complex-associated protein of 16 kDa; Golgi complex-associated protein of 16kDa; Golgin subfamily A member 7; HSPC041; MGC21096; MGC4876
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC644667  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl841,490,396 - 41,510,980 (+)EnsemblGRCh38hg38GRCh38
GRCh38841,490,396 - 41,510,980 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37841,347,915 - 41,368,499 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36841,467,238 - 41,487,656 (+)NCBINCBI36hg18NCBI36
Build 34841,467,237 - 41,487,654NCBI
Celera840,297,177 - 40,317,582 (+)NCBI
Cytogenetic Map8p11.21NCBI
HuRef839,875,887 - 39,896,291 (+)NCBIHuRef
CHM1_1841,396,465 - 41,416,889 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:11042152   PMID:11752456   PMID:11827452   PMID:14522980   PMID:15342556   PMID:15489334   PMID:16000296   PMID:19056867   PMID:19913121   PMID:20458337   PMID:20628086   PMID:21873635  
PMID:23080069   PMID:23376485   PMID:25910212   PMID:26186194   PMID:27609421   PMID:28162770   PMID:28514442   PMID:28986522   PMID:29180619   PMID:32296183   PMID:32353859   PMID:32780723  
PMID:32814053   PMID:33060197   PMID:33845483  


Genomics

Comparative Map Data
GOLGA7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl841,490,396 - 41,510,980 (+)EnsemblGRCh38hg38GRCh38
GRCh38841,490,396 - 41,510,980 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37841,347,915 - 41,368,499 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36841,467,238 - 41,487,656 (+)NCBINCBI36hg18NCBI36
Build 34841,467,237 - 41,487,654NCBI
Celera840,297,177 - 40,317,582 (+)NCBI
Cytogenetic Map8p11.21NCBI
HuRef839,875,887 - 39,896,291 (+)NCBIHuRef
CHM1_1841,396,465 - 41,416,889 (+)NCBICHM1_1
Golga7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39823,731,342 - 23,747,096 (-)NCBIGRCm39mm39
GRCm39 Ensembl823,731,362 - 23,747,090 (-)Ensembl
GRCm38823,241,326 - 23,258,903 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl823,241,346 - 23,257,074 (-)EnsemblGRCm38mm10GRCm38
MGSCv37824,351,798 - 24,367,552 (-)NCBIGRCm37mm9NCBIm37
MGSCv36824,706,892 - 24,722,557 (-)NCBImm8
Celera824,738,054 - 24,753,828 (-)NCBICelera
Cytogenetic Map8A2NCBI
Golga7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21668,767,259 - 68,782,536 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1668,767,299 - 68,782,511 (+)Ensembl
Rnor_6.01673,564,172 - 73,579,389 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1673,564,243 - 73,579,382 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01673,198,435 - 73,213,647 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41673,225,605 - 73,240,751 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11673,225,869 - 73,241,013 (+)NCBI
Celera1666,658,822 - 66,673,968 (+)NCBICelera
Cytogenetic Map16q12.5NCBI
Golga7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555361,386,652 - 1,408,727 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555361,386,760 - 1,408,628 (-)NCBIChiLan1.0ChiLan1.0
GOLGA7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1838,187,126 - 38,206,721 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl838,185,103 - 38,206,714 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0840,736,824 - 40,756,458 (+)NCBIMhudiblu_PPA_v0panPan3
GOLGA7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11624,083,498 - 24,102,024 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1624,084,540 - 24,102,440 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1624,588,238 - 24,606,766 (-)NCBI
ROS_Cfam_1.01625,831,453 - 25,849,948 (-)NCBI
UMICH_Zoey_3.11624,203,309 - 24,221,832 (-)NCBI
UNSW_CanFamBas_1.01624,765,424 - 24,783,951 (-)NCBI
UU_Cfam_GSD_1.01624,816,764 - 24,835,294 (-)NCBI
Golga7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494347,116,521 - 47,133,551 (-)NCBI
SpeTri2.0NW_0049367851,072,917 - 1,089,842 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GOLGA7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1710,623,707 - 10,644,311 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11710,624,378 - 10,643,844 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21711,988,599 - 12,008,386 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GOLGA7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1839,471,721 - 39,491,555 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl839,471,668 - 39,491,866 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660522,328,705 - 2,348,651 (-)NCBIVero_WHO_p1.0
Golga7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247801,766,821 - 1,787,405 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
WI-14408  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37765,534,511 - 65,534,634UniSTSGRCh37
GRCh37841,368,348 - 41,368,472UniSTSGRCh37
Build 36765,171,946 - 65,172,069RGDNCBI36
Celera766,579,075 - 66,579,198RGD
Celera840,317,430 - 40,317,554UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map8p11.21UniSTS
HuRef761,721,369 - 61,721,492UniSTS
HuRef839,896,139 - 39,896,263UniSTS
CRA_TCAGchr7v2764,872,023 - 64,872,146UniSTS
GeneMap99-GB4 RH Map8183.67UniSTS
Whitehead-RH Map8233.8UniSTS
RH66402  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37765,536,092 - 65,536,240UniSTSGRCh37
Build 36765,173,527 - 65,173,675RGDNCBI36
Celera766,577,469 - 66,577,617RGD
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map8p11.21UniSTS
HuRef761,722,950 - 61,723,098UniSTS
CRA_TCAGchr7v2764,873,604 - 64,873,752UniSTS
GeneMap99-GB4 RH Map7379.56UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2081
Count of miRNA genes:648
Interacting mature miRNAs:699
Transcripts:ENST00000357743, ENST00000405786, ENST00000518270, ENST00000520817, ENST00000521417, ENST00000523128, ENST00000523420
Prediction methods:Miranda, Rnahybrid
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 1
Medium 2432 2638 1699 602 1894 444 4266 1872 3706 409 1446 1607 171 1204 2699 4
Low 346 24 21 57 20 89 324 22 10 8 3 1 89 1 1
Below cutoff 3 3 3 1 1 1 1 5 5 2 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001002296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001174124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_156425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_156426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_156427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB104615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF068291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL695304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV650886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG939345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI546026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI553491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP341683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY099624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY131836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY136581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000357743   ⟹   ENSP00000350378
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl841,490,582 - 41,510,980 (+)Ensembl
RefSeq Acc Id: ENST00000405786   ⟹   ENSP00000386030
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl841,490,562 - 41,510,974 (+)Ensembl
RefSeq Acc Id: ENST00000518270   ⟹   ENSP00000429329
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl841,490,396 - 41,509,769 (+)Ensembl
RefSeq Acc Id: ENST00000520817   ⟹   ENSP00000429480
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl841,490,482 - 41,510,980 (+)Ensembl
RefSeq Acc Id: ENST00000521417
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl841,502,569 - 41,510,139 (+)Ensembl
RefSeq Acc Id: ENST00000523128
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl841,505,815 - 41,509,831 (+)Ensembl
RefSeq Acc Id: ENST00000523420
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl841,490,612 - 41,509,673 (+)Ensembl
RefSeq Acc Id: NM_001002296   ⟹   NP_001002296
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38841,490,582 - 41,510,980 (+)NCBI
GRCh37841,348,081 - 41,368,499 (+)RGD
Build 36841,467,330 - 41,487,656 (+)NCBI Archive
Celera840,297,177 - 40,317,582 (+)RGD
HuRef839,875,887 - 39,896,291 (+)RGD
CHM1_1841,396,557 - 41,416,889 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001174124   ⟹   NP_001167595
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38841,490,582 - 41,510,980 (+)NCBI
GRCh37841,348,081 - 41,368,499 (+)RGD
Celera840,297,177 - 40,317,582 (+)RGD
HuRef839,875,887 - 39,896,291 (+)RGD
CHM1_1841,396,465 - 41,416,889 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001362979   ⟹   NP_001349908
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38841,490,396 - 41,510,980 (+)NCBI
RefSeq Acc Id: NM_001362980   ⟹   NP_001349909
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38841,490,582 - 41,510,980 (+)NCBI
RefSeq Acc Id: NM_016099   ⟹   NP_057183
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38841,490,582 - 41,510,980 (+)NCBI
GRCh37841,348,081 - 41,368,499 (+)RGD
Build 36841,467,238 - 41,487,656 (+)NCBI Archive
Celera840,297,177 - 40,317,582 (+)RGD
HuRef839,875,887 - 39,896,291 (+)RGD
CHM1_1841,396,465 - 41,416,889 (+)NCBI
Sequence:
RefSeq Acc Id: NR_156425
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38841,490,582 - 41,510,980 (+)NCBI
RefSeq Acc Id: NR_156426
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38841,490,582 - 41,510,980 (+)NCBI
RefSeq Acc Id: NR_156427
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38841,490,582 - 41,510,980 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_001167595   ⟸   NM_001174124
- Peptide Label: isoform b
- UniProtKB: Q7Z5G4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_057183   ⟸   NM_016099
- Peptide Label: isoform a
- UniProtKB: Q7Z5G4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001002296   ⟸   NM_001002296
- Peptide Label: isoform a
- UniProtKB: Q7Z5G4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001349908   ⟸   NM_001362979
- Peptide Label: isoform a
RefSeq Acc Id: NP_001349909   ⟸   NM_001362980
- Peptide Label: isoform a
RefSeq Acc Id: ENSP00000429329   ⟸   ENST00000518270
RefSeq Acc Id: ENSP00000429480   ⟸   ENST00000520817
RefSeq Acc Id: ENSP00000386030   ⟸   ENST00000405786
RefSeq Acc Id: ENSP00000350378   ⟸   ENST00000357743

Promoters
RGD ID:6806663
Promoter ID:HG_KWN:61186
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000405786,   NM_001002296,   NM_001174124,   NM_016099,   UC003XNV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36841,466,866 - 41,467,366 (+)MPROMDB
RGD ID:6851048
Promoter ID:EP73321
Type:initiation region
Name:HS_LOC51125
Description:HSPC041 protein.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36841,467,261 - 41,467,321EPD
RGD ID:6813419
Promoter ID:HG_ACW:76821
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:GOLGA7.IAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36841,484,556 - 41,485,207 (+)MPROMDB
RGD ID:7213181
Promoter ID:EPDNEW_H12336
Type:initiation region
Name:GOLGA7_1
Description:golgin A7
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
GRCh38841,490,582 - 41,490,642EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 copy number gain See cases [RCV000050904] Chr8:25832130..48521849 [GRCh38]
Chr8:25689646..49434409 [GRCh37]
Chr8:25745563..49596962 [NCBI36]
Chr8:8p21.2-q11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1 copy number loss See cases [RCV000050745] Chr8:34312250..43158901 [GRCh38]
Chr8:34169768..43014044 [GRCh37]
Chr8:34289310..43133201 [NCBI36]
Chr8:8p12-11.21
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3 copy number gain See cases [RCV000050995] Chr8:29719897..48521849 [GRCh38]
Chr8:29577413..49434409 [GRCh37]
Chr8:29633332..49596962 [NCBI36]
Chr8:8p12-q11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
pathogenic
GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)x3 copy number gain See cases [RCV000053648] Chr8:37899430..42371734 [GRCh38]
Chr8:37756948..42229252 [GRCh37]
Chr8:37876106..42348409 [NCBI36]
Chr8:8p11.23-11.21
pathogenic
GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3 copy number gain See cases [RCV000053649] Chr8:39830633..49209461 [GRCh38]
Chr8:39688152..50122020 [GRCh37]
Chr8:39807309..50284573 [NCBI36]
Chr8:8p11.22-q11.21
pathogenic
GRCh38/hg38 8p11.21-11.1(chr8:39981424-43532444)x3 copy number gain See cases [RCV000053650] Chr8:39981424..43532444 [GRCh38]
Chr8:39838943..43387587 [GRCh37]
Chr8:39958100..43506744 [NCBI36]
Chr8:8p11.21-11.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormality of the fetal cardiovascular system [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 copy number gain See cases [RCV000139582] Chr8:36580103..59618998 [GRCh38]
Chr8:36437621..60531557 [GRCh37]
Chr8:36556779..60694111 [NCBI36]
Chr8:8p12-q12.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p11.21-11.1(chr8:39960531-43673207)x3 copy number gain See cases [RCV000142663] Chr8:39960531..43673207 [GRCh38]
Chr8:39818050..43528350 [GRCh37]
Chr8:39937207..43647507 [NCBI36]
Chr8:8p11.21-11.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p11.21-11.1(chr8:40690198-43388233)x3 copy number gain See cases [RCV000446823] Chr8:40690198..43388233 [GRCh37]
Chr8:8p11.21-11.1
pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8p12-11.21(chr8:31352498-41481295)x3 copy number gain not provided [RCV000683035] Chr8:31352498..41481295 [GRCh37]
Chr8:8p12-11.21
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3 copy number gain not provided [RCV000846266] Chr8:39555657..64049089 [GRCh37]
Chr8:8p11.22-q12.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p12-11.1(chr8:36094421-43822214)x3 copy number gain not provided [RCV000848822] Chr8:36094421..43822214 [GRCh37]
Chr8:8p12-11.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24876 AgrOrtholog
COSMIC GOLGA7 COSMIC
Ensembl Genes ENSG00000147533 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000350378 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000386030 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429329 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429480 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000357743 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000405786 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000518270 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000520817 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000147533 GTEx
HGNC ID HGNC:24876 ENTREZGENE
Human Proteome Map GOLGA7 Human Proteome Map
InterPro Golgin_A_7/ERF4 UniProtKB/Swiss-Prot
KEGG Report hsa:51125 UniProtKB/Swiss-Prot
NCBI Gene 51125 ENTREZGENE
OMIM 609453 OMIM
Pfam Erf4 UniProtKB/Swiss-Prot
PharmGKB PA134991547 PharmGKB
UniProt GOGA7_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary D3DSX9 UniProtKB/Swiss-Prot
  J3KQ24 UniProtKB/Swiss-Prot
  Q96EQ4 UniProtKB/Swiss-Prot
  Q9P1S0 UniProtKB/Swiss-Prot
  Q9Y5U7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 GOLGA7  golgin A7  GOLGA7  golgi autoantigen, golgin subfamily a, 7  Symbol and/or name change 5135510 APPROVED