RGPD6 (RANBP2 like and GRIP domain containing 6) - Rat Genome Database
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Gene: RGPD6 (RANBP2 like and GRIP domain containing 6) Homo sapiens
Analyze
No known orthologs.
Symbol: RGPD6
Name: RANBP2 like and GRIP domain containing 6
RGD ID: 1603061
HGNC Page HGNC
Description: Predicted to contribute to GTPase activator activity. Predicted to be involved in NLS-bearing protein import into nucleus. Predicted to localize to cytoplasm and nuclear pore; INTERACTS WITH 3-isobutyl-1-methyl-7H-xanthine; 3-methylcholanthrene; aflatoxin M1.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: MGC190070; ran-binding protein 2-like 1/2; ranBP2-like 1/2; RANBP2-like and GRIP domain containing 6; RANBP2-like and GRIP domain-containing protein 5/6; RANBP2-like and GRIP domain-containing protein 7; RanBP2L1; RanBP2L2; RANBPL1; RGP6; RGPD5; RGPD7; sperm membrane protein BS-63
RGD Orthologs
Alliance Genes
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2110,513,812 - 110,577,185 (-)EnsemblGRCh38hg38GRCh38
GRCh382110,513,802 - 110,611,056 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372111,271,379 - 111,336,309 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362110,705,708 - 110,770,601 (-)NCBINCBI36hg18NCBI36
Cytogenetic Map2q13NCBI
HuRef2102,907,233 - 102,997,480 (+)NCBIHuRef
CHM1_12111,275,537 - 111,340,517 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA)
nuclear pore  (IBA)

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9480752   PMID:11230166   PMID:12477932   PMID:14702039   PMID:15710750   PMID:15815621   PMID:17342744   PMID:17452356   PMID:18220336   PMID:18669648   PMID:20360068   PMID:21873635  
PMID:23463506   PMID:25798074   PMID:25963833   PMID:26344197   PMID:29395067   PMID:31551363  


Genomics

Position Markers
DXS7625  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372109,323,145 - 109,323,223UniSTSGRCh37
GRCh37X69,163,188 - 69,163,256UniSTSGRCh37
Build 36X69,079,913 - 69,079,981RGDNCBI36
Celera2103,633,125 - 103,633,203UniSTS
CeleraX69,516,568 - 69,516,636RGD
Cytogenetic MapXq12-q13.1UniSTS
Cytogenetic Map2q13UniSTS
HuRef2102,921,615 - 102,921,693UniSTS
HuRefX62,984,120 - 62,984,188UniSTS
RH16188  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q13UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map2p11.2UniSTS
WI-15297  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q13UniSTS
GeneMap99-GB4 RH Map2389.3UniSTS
Whitehead-RH Map2623.4UniSTS
D2S2897  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q13UniSTS
Cytogenetic Map2q12.3UniSTS
D2S1552E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q13UniSTS
Cytogenetic Map2q12.3UniSTS
RH35930  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q13UniSTS
Cytogenetic Map2q12.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1973
Count of miRNA genes:1037
Interacting mature miRNAs:1269
Transcripts:ENST00000329516, ENST00000330331, ENST00000437167, ENST00000446930, ENST00000455695, ENST00000459645, ENST00000463822, ENST00000473101, ENST00000480894, ENST00000484024, ENST00000490990
Prediction methods:Microtar, 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


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001037866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001123363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001384364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC108938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC109815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC123886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC226101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC244199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF491794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000329516   ⟹   ENSP00000330842
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,513,821 - 110,577,101 (-)Ensembl
RefSeq Acc Id: ENST00000330331   ⟹   ENSP00000330023
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,538,488 - 110,577,101 (-)Ensembl
RefSeq Acc Id: ENST00000437167   ⟹   ENSP00000387779
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,532,514 - 110,534,010 (-)Ensembl
RefSeq Acc Id: ENST00000446930   ⟹   ENSP00000410084
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,563,331 - 110,577,185 (-)Ensembl
RefSeq Acc Id: ENST00000455695   ⟹   ENSP00000409424
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,567,968 - 110,576,823 (-)Ensembl
RefSeq Acc Id: ENST00000459645
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,557,739 - 110,563,270 (-)Ensembl
RefSeq Acc Id: ENST00000463822
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,513,812 - 110,531,130 (-)Ensembl
RefSeq Acc Id: ENST00000473101
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,545,532 - 110,546,997 (-)Ensembl
RefSeq Acc Id: ENST00000480894
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,566,952 - 110,568,032 (-)Ensembl
RefSeq Acc Id: ENST00000484024   ⟹   ENSP00000418549
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,535,591 - 110,567,435 (-)Ensembl
RefSeq Acc Id: ENST00000490990
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2110,563,196 - 110,577,090 (-)Ensembl
RefSeq Acc Id: NM_001037866   ⟹   NP_001032955
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,538,488 - 110,577,222 (-)NCBI
GRCh372111,271,379 - 111,336,309 (-)RGD
GRCh372111,271,379 - 111,336,309 (-)NCBI
Build 362111,012,128 - 111,052,778 (-)NCBI Archive
CHM1_12111,300,203 - 111,340,517 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001123363   ⟹   NP_001116835
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,513,802 - 110,577,222 (-)NCBI
GRCh372111,271,379 - 111,336,309 (-)RGD
GRCh372111,271,379 - 111,336,309 (-)NCBI
CHM1_12111,275,537 - 111,340,517 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001384362   ⟹   NP_001371291
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,513,802 - 110,611,056 (-)NCBI
RefSeq Acc Id: NM_001384363   ⟹   NP_001371292
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,513,802 - 110,610,840 (-)NCBI
RefSeq Acc Id: NM_001384364   ⟹   NP_001371293
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,513,802 - 110,576,900 (-)NCBI
RefSeq Acc Id: NM_001386141   ⟹   NP_001373070
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,513,802 - 110,577,222 (-)NCBI
RefSeq Acc Id: NM_001386145   ⟹   NP_001373074
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,513,802 - 110,577,222 (-)NCBI
RefSeq Acc Id: NM_001386155   ⟹   NP_001373084
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,513,802 - 110,577,222 (-)NCBI
RefSeq Acc Id: NM_001386159   ⟹   NP_001373088
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,513,802 - 110,577,222 (-)NCBI
RefSeq Acc Id: NM_001386163   ⟹   NP_001373092
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,513,802 - 110,577,222 (-)NCBI
RefSeq Acc Id: NM_001387273   ⟹   NP_001374202
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,513,802 - 110,576,901 (-)NCBI
RefSeq Acc Id: XM_011511769   ⟹   XP_011510071
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,529,199 - 110,610,903 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011511770   ⟹   XP_011510072
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,529,199 - 110,610,903 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004839   ⟹   XP_016860328
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,527,561 - 110,610,903 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004840   ⟹   XP_016860329
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,527,562 - 110,577,214 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004841   ⟹   XP_016860330
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,527,562 - 110,576,823 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004843   ⟹   XP_016860332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,530,473 - 110,610,903 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453119   ⟹   XP_024308887
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,527,563 - 110,577,150 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001116835   ⟸   NM_001123363
- Peptide Label: isoform 1
- UniProtKB: Q99666 (UniProtKB/Swiss-Prot),   V9HWE4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001032955   ⟸   NM_001037866
- Peptide Label: isoform 2
- UniProtKB: Q99666 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011510072   ⟸   XM_011511770
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011510071   ⟸   XM_011511769
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016860328   ⟸   XM_017004839
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016860329   ⟸   XM_017004840
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016860330   ⟸   XM_017004841
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016860332   ⟸   XM_017004843
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_024308887   ⟸   XM_024453119
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: ENSP00000409424   ⟸   ENST00000455695
RefSeq Acc Id: ENSP00000418549   ⟸   ENST00000484024
RefSeq Acc Id: ENSP00000410084   ⟸   ENST00000446930
RefSeq Acc Id: ENSP00000330842   ⟸   ENST00000329516
RefSeq Acc Id: ENSP00000387779   ⟸   ENST00000437167
RefSeq Acc Id: ENSP00000330023   ⟸   ENST00000330331
RefSeq Acc Id: NP_001371291   ⟸   NM_001384362
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001371292   ⟸   NM_001384363
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001373084   ⟸   NM_001386155
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001373070   ⟸   NM_001386141
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001373074   ⟸   NM_001386145
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001373088   ⟸   NM_001386159
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001373092   ⟸   NM_001386163
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001371293   ⟸   NM_001384364
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001374202   ⟸   NM_001387273
- Peptide Label: isoform 3
Protein Domains
GRIP   RanBD1   TPR_REGION

Promoters
RGD ID:6861324
Promoter ID:EPDNEW_H3827
Type:initiation region
Name:RGPD6_1
Description:RANBP2-like and GRIP domain containing 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3828  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,577,149 - 110,577,209EPDNEW
RGD ID:6861326
Promoter ID:EPDNEW_H3828
Type:initiation region
Name:RGPD6_2
Description:RANBP2-like and GRIP domain containing 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3827  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382110,610,827 - 110,610,887EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q13(chr2:110104900-110611314)x3 copy number gain Autism [RCV000050514]|See cases [RCV000050514] Chr2:110104900..110611314 [GRCh38]
Chr2:110862477..111368891 [GRCh37]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110084138-110611314)x1 copy number loss See cases [RCV000053608] Chr2:110084138..110611314 [GRCh38]
Chr2:110841715..111368891 [GRCh37]
Chr2:110199004..111085360 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110611314)x3 copy number gain See cases [RCV000050514] Chr2:110104900..110611314 [GRCh38]
Chr2:110862477..111368891 [GRCh37]
Chr2:110219766..111085360 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110104900-110611314)x1 copy number loss See cases [RCV000135500] Chr2:110104900..110611314 [GRCh38]
Chr2:110862477..111368891 [GRCh37]
Chr2:110219766..111085360 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:110025681-110576905)x1 copy number loss See cases [RCV000136417] Chr2:110025681..110576905 [GRCh38]
Chr2:110783258..111334482 [GRCh37]
Chr2:110140547..110811832 [NCBI36]
Chr2:2q13
benign
GRCh38/hg38 2q13(chr2:108719125-110611314)x3 copy number gain See cases [RCV000137361] Chr2:108719125..110611314 [GRCh38]
Chr2:109335581..111368891 [GRCh37]
Chr2:108702013..111085360 [NCBI36]
Chr2:2q13
uncertain significance
GRCh38/hg38 2q13(chr2:109975055-110576905)x3 copy number gain See cases [RCV000137971] Chr2:109975055..110576905 [GRCh38]
Chr2:110732632..111334482 [GRCh37]
Chr2:110089921..110775582 [NCBI36]
Chr2:2q13
likely benign
GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3 copy number gain See cases [RCV000138645] Chr2:101710825..110791418 [GRCh38]
Chr2:102327287..111548995 [GRCh37]
Chr2:101693719..111265466 [NCBI36]
Chr2:2q11.2-13
pathogenic
GRCh38/hg38 2q13(chr2:110049995-110576905)x3 copy number gain See cases [RCV000138366] Chr2:110049995..110576905 [GRCh38]
Chr2:110807572..111334482 [GRCh37]
Chr2:110164861..110775582 [NCBI36]
Chr2:2q13
likely benign
GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3 copy number gain See cases [RCV000139569] Chr2:106516472..110576905 [GRCh38]
Chr2:107132928..111334482 [GRCh37]
Chr2:106499360..110857227 [NCBI36]
Chr2:2q12.2-13
uncertain significance
GRCh38/hg38 2q13-14.1(chr2:110577566-112331529)x3 copy number gain See cases [RCV000141317] Chr2:110577566..112331529 [GRCh38]
Chr2:111335143..113089106 [GRCh37]
Chr2:110775523..112805577 [NCBI36]
Chr2:2q13-14.1
uncertain significance
GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3 copy number gain See cases [RCV000140834] Chr2:106428663..112379067 [GRCh38]
Chr2:107045119..113136644 [GRCh37]
Chr2:106411551..112853115 [NCBI36]
Chr2:2q12.2-14.1
uncertain significance
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 copy number gain See cases [RCV000141075] Chr2:94678532..110602409 [GRCh38]
Chr2:95344257..111359986 [GRCh37]
Chr2:94707984..111076455 [NCBI36]
Chr2:2q11.1-13
pathogenic
GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1 copy number loss See cases [RCV000240053] Chr2:106423310..115054828 [GRCh37]
Chr2:2q12.2-14.1
pathogenic
GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1 copy number loss See cases [RCV000240485] Chr2:109798247..125658380 [GRCh37]
Chr2:2q12.3-14.3
pathogenic
GRCh37/hg19 2q12.3-14.1(chr2:109556627-117570152)x1 copy number loss See cases [RCV000240490] Chr2:109556627..117570152 [GRCh37]
Chr2:2q12.3-14.1
pathogenic
GRCh37/hg19 2q13(chr2:110852875-111398472)x1 copy number loss See cases [RCV000598664] Chr2:110852875..111398472 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q13(chr2:110873834-111365996)x1 copy number loss See cases [RCV000449334] Chr2:110873834..111365996 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q11.1-13(chr2:95327499-111370025)x4 copy number gain See cases [RCV000446842] Chr2:95327499..111370025 [GRCh37]
Chr2:2q11.1-13
pathogenic
GRCh37/hg19 2q13(chr2:110497990-111400649)x3 copy number gain See cases [RCV000447601] Chr2:110497990..111400649 [GRCh37]
Chr2:2q13
likely benign
GRCh37/hg19 2q13(chr2:110504318-111365996)x1 copy number loss See cases [RCV000445912] Chr2:110504318..111365996 [GRCh37]
Chr2:2q13
conflicting data from submitters
GRCh37/hg19 2q13(chr2:110504318-111370025)x3 copy number gain See cases [RCV000446018] Chr2:110504318..111370025 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:111186302-113273657) copy number gain Abnormality of esophagus morphology [RCV000416806] Chr2:111186302..113273657 [GRCh37]
Chr2:2q13
likely pathogenic
GRCh37/hg19 2q13(chr2:110873834-111365996)x3 copy number gain See cases [RCV000447941] Chr2:110873834..111365996 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110874326-111365996)x1 copy number loss See cases [RCV000448315] Chr2:110874326..111365996 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q13(chr2:110504318-111365996)x3 copy number gain See cases [RCV000448330] Chr2:110504318..111365996 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss PARP Inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3
drug response
GRCh37/hg19 2q13(chr2:110504318-111622976)x3 copy number gain not provided [RCV000682117] Chr2:110504318..111622976 [GRCh37]
Chr2:2q13
likely benign
GRCh37/hg19 2q13(chr2:110980294-113137529)x1 copy number loss not provided [RCV000682144] Chr2:110980294..113137529 [GRCh37]
Chr2:2q13
pathogenic
GRCh37/hg19 2q12.2-13(chr2:107020782-111365996)x1 copy number loss not provided [RCV000682152] Chr2:107020782..111365996 [GRCh37]
Chr2:2q12.2-13
likely pathogenic
Single allele duplication not provided [RCV000678012] Chr2:107096423..112235727 [GRCh37]
Chr2:2q12.2-13
likely pathogenic
GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3 copy number gain not provided [RCV000682168] Chr2:96353030..114045463 [GRCh37]
Chr2:2q11.1-13
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q13(chr2:110985804-111300000)x1 copy number loss not provided [RCV000740563] Chr2:110985804..111300000 [GRCh37]
Chr2:2q13
benign
GRCh37/hg19 2q12.2-13(chr2:107029680-113187742)x1 copy number loss not provided [RCV001259645] Chr2:107029680..113187742 [GRCh37]
Chr2:2q12.2-13
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:32419 AgrOrtholog
COSMIC RGPD6 COSMIC
Ensembl Genes ENSG00000015568 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000169629 UniProtKB/TrEMBL
  ENSG00000183054 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000016946 UniProtKB/Swiss-Prot
  ENSP00000272454 UniProtKB/Swiss-Prot
  ENSP00000330023 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000330842 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000376962 UniProtKB/Swiss-Prot
  ENSP00000387779 UniProtKB/TrEMBL
  ENSP00000400797 UniProtKB/TrEMBL
  ENSP00000409406 UniProtKB/TrEMBL
  ENSP00000409424 UniProtKB/TrEMBL
  ENSP00000410084 UniProtKB/TrEMBL
  ENSP00000418549 UniProtKB/TrEMBL
  ENSP00000429923 UniProtKB/TrEMBL
Ensembl Transcript ENST00000016946 UniProtKB/Swiss-Prot
  ENST00000272454 UniProtKB/Swiss-Prot
  ENST00000329516 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000330331 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000393283 UniProtKB/Swiss-Prot
  ENST00000413468 UniProtKB/TrEMBL
  ENST00000432606 UniProtKB/TrEMBL
  ENST00000437167 UniProtKB/TrEMBL
  ENST00000446930 UniProtKB/TrEMBL
  ENST00000455695 UniProtKB/TrEMBL
  ENST00000484024 UniProtKB/TrEMBL
  ENST00000522286 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000015568 GTEx
  ENSG00000169629 GTEx
  ENSG00000183054 GTEx
HGNC ID HGNC:32419 ENTREZGENE
Human Proteome Map RGPD6 Human Proteome Map
InterPro GCC2_Rab_bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GRIP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ran_bind_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR-contain_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR-like_helical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_1 UniProtKB/TrEMBL
  TPR_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:729540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hsa:84220 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 729540 ENTREZGENE
OMIM 612709 OMIM
  612710 OMIM
Pfam GRIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rab_bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ran_BP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_1 UniProtKB/TrEMBL
PharmGKB PA142671075 PharmGKB
PROSITE GRIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RANBD1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Grip UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RanBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.535589 ENTREZGENE
  Hs.645445 ENTREZGENE
UniProt C9J1P2_HUMAN UniProtKB/TrEMBL
  C9JF75_HUMAN UniProtKB/TrEMBL
  H0YBN8_HUMAN UniProtKB/TrEMBL
  H7BZ48_HUMAN UniProtKB/TrEMBL
  Q99666 ENTREZGENE, UniProtKB/Swiss-Prot
  V9HWE4 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q53QN2 UniProtKB/Swiss-Prot
  Q53T03 UniProtKB/Swiss-Prot
  Q59GM7 UniProtKB/Swiss-Prot
  Q9H0B2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-19 RGPD6  RANBP2 like and GRIP domain containing 6    RANBP2-like and GRIP domain containing 6  Symbol and/or name change 5135510 APPROVED