RAB6C (RAB6C, member RAS oncogene family) - Rat Genome Database

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Gene: RAB6C (RAB6C, member RAS oncogene family) Homo sapiens
Analyze
Symbol: RAB6C
Name: RAB6C, member RAS oncogene family
RGD ID: 1354322
HGNC Page HGNC:16525
Description: Enables GTPase activity. Involved in mitotic cell cycle; regulation of centrosome duplication; and response to xenobiotic stimulus. Located in Golgi apparatus and centrosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: rab6-like protein WTH3; ras-related protein Rab-6C; WTH3
RGD Orthologs
Bonobo
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
GRCh382129,979,666 - 129,982,738 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2129,979,666 - 129,982,738 (+)EnsemblGRCh38hg38GRCh38
GRCh372130,737,239 - 130,740,311 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362130,453,705 - 130,456,781 (+)NCBINCBI36Build 36hg18NCBI36
Build 342130,453,466 - 130,456,541NCBI
Celera2124,048,094 - 124,051,159 (+)NCBICelera
Cytogenetic Map2q21.1NCBI
HuRef2123,046,702 - 123,049,767 (+)NCBIHuRef
CHM1_12130,740,739 - 130,743,804 (+)NCBICHM1_1
T2T-CHM13v2.02130,409,324 - 130,412,385 (+)NCBIT2T-CHM13v2.0
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

Cellular Component
centrosome  (IDA,IEA)
cytoplasm  (IEA)
cytoskeleton  (IEA)
cytosol  (IEA)
endomembrane system  (IBA)
Golgi apparatus  (IBA,IDA)
nucleus  (IEA)

Molecular Function
GTP binding  (IEA)
GTPase activity  (IBA,IDA,IEA)
protein binding  (IPI)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9847074   PMID:10455022   PMID:11054569   PMID:11230166   PMID:12007787   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16267028   PMID:17426708   PMID:18187620   PMID:18992151  
PMID:19851296   PMID:20064528   PMID:20198315   PMID:20360680   PMID:21873635   PMID:22939629   PMID:22949199   PMID:24024966   PMID:28255813   PMID:28514442   PMID:32814053   PMID:33961781  
PMID:34515321   PMID:38334954   PMID:38569033  


Genomics

Comparative Map Data
RAB6C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382129,979,666 - 129,982,738 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2129,979,666 - 129,982,738 (+)EnsemblGRCh38hg38GRCh38
GRCh372130,737,239 - 130,740,311 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362130,453,705 - 130,456,781 (+)NCBINCBI36Build 36hg18NCBI36
Build 342130,453,466 - 130,456,541NCBI
Celera2124,048,094 - 124,051,159 (+)NCBICelera
Cytogenetic Map2q21.1NCBI
HuRef2123,046,702 - 123,049,767 (+)NCBIHuRef
CHM1_12130,740,739 - 130,743,804 (+)NCBICHM1_1
T2T-CHM13v2.02130,409,324 - 130,412,385 (+)NCBIT2T-CHM13v2.0
RAB6C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21345,655,746 - 45,661,893 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B45,669,875 - 45,676,890 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B30,288,815 - 30,291,915 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3

Variants

.
Variants in RAB6C
15 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1 copy number loss See cases [RCV000054058] Chr2:118086324..134964738 [GRCh38]
Chr2:118843900..135722308 [GRCh37]
Chr2:118560370..135438778 [NCBI36]
Chr2:2q14.1-21.3		 pathogenic
GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1 copy number loss See cases [RCV000136714] Chr2:123445762..140592538 [GRCh38]
Chr2:124203338..141350107 [GRCh37]
Chr2:123919808..141066577 [NCBI36]
Chr2:2q14.3-22.1		 pathogenic
GRCh38/hg38 2q14.3-21.1(chr2:127063206-130527454)x3 copy number gain See cases [RCV000138369] Chr2:127063206..130527454 [GRCh38]
Chr2:127820782..131285027 [GRCh37]
Chr2:127537252..131001497 [NCBI36]
Chr2:2q14.3-21.1		 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 2q21.1(chr2:130634874-130877782)x3 copy number gain See cases [RCV000449315] Chr2:130634874..130877782 [GRCh37]
Chr2:2q21.1		 benign
GRCh37/hg19 2q14.3-22.1(chr2:128490257-138210164)x1 copy number loss See cases [RCV000445892] Chr2:128490257..138210164 [GRCh37]
Chr2:2q14.3-22.1		 pathogenic
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
GRCh37/hg19 2q21.1(chr2:130166042-130784390)x3 copy number gain See cases [RCV000511467] Chr2:130166042..130784390 [GRCh37]
Chr2:2q21.1		 uncertain significance
GRCh37/hg19 2q21.1(chr2:130685932-131478005)x3 copy number gain See cases [RCV000511540] Chr2:130685932..131478005 [GRCh37]
Chr2:2q21.1		 uncertain significance
Single allele deletion 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 Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3		 drug response
GRCh37/hg19 2q14.3-21.1(chr2:129784722-131050352)x1 copy number loss See cases [RCV000512415] Chr2:129784722..131050352 [GRCh37]
Chr2:2q14.3-21.1		 uncertain significance
GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1 copy number loss See cases [RCV000512348] Chr2:120571363..141627287 [GRCh37]
Chr2:2q14.2-22.1		 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 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q21.1(chr2:130166042-130784390)x3 copy number gain not provided [RCV001005316] Chr2:130166042..130784390 [GRCh37]
Chr2:2q21.1		 likely benign
GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1 copy number loss See cases [RCV001194541] Chr2:122952356..133826358 [GRCh37]
Chr2:2q14.3-21.2		 likely pathogenic
GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3 copy number gain not provided [RCV001832896] Chr2:111484468..146333604 [GRCh37]
Chr2:2q13-22.3		 pathogenic
GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1 copy number loss not provided [RCV001832883] Chr2:122699106..143799629 [GRCh37]
Chr2:2q14.3-22.2		 pathogenic
GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3 copy number gain 2q13q22.3 microduplication syndrome [RCV002226436] Chr2:112475655..145691999 [GRCh37]
Chr2:2q13-22.3		 pathogenic
NM_032144.3(RAB6C):c.652C>G (p.Pro218Ala) single nucleotide variant not specified [RCV004310421] Chr2:129980767 [GRCh38]
Chr2:130738340 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_032144.3(RAB6C):c.610G>C (p.Gly204Arg) single nucleotide variant not specified [RCV004093214] Chr2:129980725 [GRCh38]
Chr2:130738298 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_032144.3(RAB6C):c.410C>T (p.Ser137Leu) single nucleotide variant not specified [RCV004139337] Chr2:129980525 [GRCh38]
Chr2:130738098 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_032144.3(RAB6C):c.503G>A (p.Arg168Gln) single nucleotide variant not specified [RCV004231271] Chr2:129980618 [GRCh38]
Chr2:130738191 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_032144.3(RAB6C):c.307C>G (p.Gln103Glu) single nucleotide variant not specified [RCV004099295] Chr2:129980422 [GRCh38]
Chr2:130737995 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_032144.3(RAB6C):c.412G>A (p.Val138Ile) single nucleotide variant not specified [RCV004072146] Chr2:129980527 [GRCh38]
Chr2:130738100 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_032144.3(RAB6C):c.292G>A (p.Val98Ile) single nucleotide variant not specified [RCV004180083] Chr2:129980407 [GRCh38]
Chr2:130737980 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_032144.3(RAB6C):c.517G>A (p.Ala173Thr) single nucleotide variant not specified [RCV004220490] Chr2:129980632 [GRCh38]
Chr2:130738205 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_032144.3(RAB6C):c.452C>T (p.Thr151Met) single nucleotide variant not specified [RCV004279067] Chr2:129980567 [GRCh38]
Chr2:130738140 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_032144.3(RAB6C):c.220C>T (p.Arg74Cys) single nucleotide variant not specified [RCV004297465] Chr2:129980335 [GRCh38]
Chr2:130737908 [GRCh37]
Chr2:2q21.1		 uncertain significance
GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1 copy number loss not specified [RCV003986380] Chr2:106755586..134302739 [GRCh37]
Chr2:2q12.2-21.2		 pathogenic
NM_032144.3(RAB6C):c.446A>G (p.Asn149Ser) single nucleotide variant not specified [RCV004443238] Chr2:129980561 [GRCh38]
Chr2:130738134 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_032144.3(RAB6C):c.224T>A (p.Leu75His) single nucleotide variant not specified [RCV004443235] Chr2:129980339 [GRCh38]
Chr2:130737912 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_032144.3(RAB6C):c.277T>G (p.Tyr93Asp) single nucleotide variant not specified [RCV004443237] Chr2:129980392 [GRCh38]
Chr2:130737965 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_032144.3(RAB6C):c.21C>A (p.Phe7Leu) single nucleotide variant not specified [RCV004443234] Chr2:129980136 [GRCh38]
Chr2:130737709 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_032144.3(RAB6C):c.467G>A (p.Arg156Lys) single nucleotide variant not specified [RCV004443239] Chr2:129980582 [GRCh38]
Chr2:130738155 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_032144.3(RAB6C):c.247A>C (p.Ile83Leu) single nucleotide variant not specified [RCV004669423] Chr2:129980362 [GRCh38]
Chr2:130737935 [GRCh37]
Chr2:2q21.1		 uncertain significance
NM_032144.3(RAB6C):c.31C>G (p.Leu11Val) single nucleotide variant not specified [RCV004669424] Chr2:129980146 [GRCh38]
Chr2:130737719 [GRCh37]
Chr2:2q21.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:832
Count of miRNA genes:461
Interacting mature miRNAs:493
Transcripts:ENST00000410061
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.

Markers in Region
A007D11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372132,121,009 - 132,121,137UniSTSGRCh37
GRCh372130,737,845 - 130,737,973UniSTSGRCh37
Build 362130,454,315 - 130,454,443RGDNCBI36
Celera2125,844,232 - 125,844,360UniSTS
Celera2124,048,700 - 124,048,828RGD
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map11q13.3UniSTS
HuRef2123,047,312 - 123,047,440UniSTS
HuRef2124,115,115 - 124,115,243UniSTS
GeneMap99-GB4 RH Map2480.55UniSTS
NCBI RH Map21021.7UniSTS
D2S1527E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372132,120,654 - 132,120,879UniSTSGRCh37
GRCh372130,738,103 - 130,738,328UniSTSGRCh37
Build 362130,454,573 - 130,454,798RGDNCBI36
Celera2124,048,958 - 124,049,183RGD
Celera2125,843,877 - 125,844,102UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map11q13.3UniSTS
HuRef2124,114,760 - 124,114,985UniSTS
HuRef2123,047,570 - 123,047,795UniSTS
RH71435  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372132,120,753 - 132,120,911UniSTSGRCh37
GRCh372130,738,071 - 130,738,229UniSTSGRCh37
Build 362130,454,541 - 130,454,699RGDNCBI36
Celera2125,843,976 - 125,844,134UniSTS
Celera2124,048,926 - 124,049,084RGD
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map11q13.3UniSTS
HuRef2123,047,538 - 123,047,696UniSTS
HuRef2124,114,859 - 124,115,017UniSTS
GeneMap99-GB4 RH Map2467.43UniSTS
NCBI RH Map21021.7UniSTS
WI-21096  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map2q21.1UniSTS
GeneMap99-GB4 RH Map11271.36UniSTS
Whitehead-RH Map11370.7UniSTS
NCBI RH Map11625.6UniSTS
RH15940  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map2q21.1UniSTS
RH64887  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map2q21.1UniSTS


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
renal system
reproductive system
respiratory system
sensory system
1170 2226 2612 2146 4651 1462 1979 5 410 1017 262 2034 5743 5360 27 3640 736 1581 1452 154

Sequence


Ensembl Acc Id: ENST00000410061   ⟹   ENSP00000387307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2129,979,666 - 129,982,738 (+)Ensembl
RefSeq Acc Id: NM_032144   ⟹   NP_115520
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382129,979,666 - 129,982,738 (+)NCBI
GRCh372130,737,235 - 130,740,311 (+)ENTREZGENE
Build 362130,453,705 - 130,456,781 (+)NCBI Archive
HuRef2123,046,702 - 123,049,767 (+)ENTREZGENE
CHM1_12130,740,739 - 130,743,804 (+)NCBI
T2T-CHM13v2.02130,409,324 - 130,412,385 (+)NCBI
Sequence:
RefSeq Acc Id: NP_115520   ⟸   NM_032144
- UniProtKB: Q6FIF7 (UniProtKB/Swiss-Prot),   Q53RU3 (UniProtKB/Swiss-Prot),   Q9P128 (UniProtKB/Swiss-Prot),   Q9H0N0 (UniProtKB/Swiss-Prot),   Q53ET8 (UniProtKB/TrEMBL),   Q6FGX3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000387307   ⟸   ENST00000410061

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H0N0-F1-model_v2 AlphaFold Q9H0N0 1-254 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16525 AgrOrtholog
COSMIC RAB6C COSMIC
Ensembl Genes ENSG00000222014 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000292140 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000410061 ENTREZGENE
  ENST00000410061.4 UniProtKB/Swiss-Prot
  ENST00000709845.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000222014 GTEx
  ENSG00000292140 GTEx
HGNC ID HGNC:16525 ENTREZGENE
Human Proteome Map RAB6C Human Proteome Map
InterPro P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rab UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTP-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84084 UniProtKB/Swiss-Prot
NCBI Gene 84084 ENTREZGENE
OMIM 612909 OMIM
PANTHER RAB6A, MEMBER RAS ONCOGENE FAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAS-RELATED PROTEIN RAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ras UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34148 PharmGKB
PRINTS RASTRNSFRMNG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE RAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAS UniProtKB/TrEMBL
  RHO UniProtKB/TrEMBL
SMART RAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP P-loop containing nucleoside triphosphate hydrolases UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt Q53ET8 ENTREZGENE
  Q53RU3 ENTREZGENE
  Q6FGX3 ENTREZGENE, UniProtKB/TrEMBL
  Q6FIF7 ENTREZGENE
  Q9H0N0 ENTREZGENE
  Q9P128 ENTREZGENE
  RAB6C_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q53RU3 UniProtKB/Swiss-Prot
  Q6FIF7 UniProtKB/Swiss-Prot
  Q9P128 UniProtKB/Swiss-Prot