ARF6 (ADP ribosylation factor 6) - Rat Genome Database

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Gene: ARF6 (ADP ribosylation factor 6) Homo sapiens
Analyze
Symbol: ARF6
Name: ADP ribosylation factor 6
RGD ID: 734181
HGNC Page HGNC
Description: Exhibits GDP binding activity; GTP binding activity; and thioesterase binding activity. Involved in several processes, including endocytic recycling; regulation of Rac protein signal transduction; and ruffle assembly. Localizes to several cellular components, including Flemming body; cytoplasmic vesicle; and filopodium membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ADP-ribosylation factor 6; DKFZp564M0264
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC442603  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1449,893,082 - 49,897,054 (+)EnsemblGRCh38hg38GRCh38
GRCh381449,893,082 - 49,897,054 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371450,359,800 - 50,363,772 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361449,429,486 - 49,433,522 (+)NCBINCBI36hg18NCBI36
Build 341449,429,588 - 49,431,484NCBI
Celera1430,226,871 - 30,230,907 (+)NCBI
Cytogenetic Map14q21.3NCBI
HuRef1430,484,292 - 30,488,326 (+)NCBIHuRef
CHM1_11450,297,978 - 50,302,011 (+)NCBICHM1_1
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

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1993656   PMID:2105501   PMID:7589240   PMID:7855600   PMID:7898460   PMID:7990966   PMID:8355790   PMID:8491770   PMID:8702973   PMID:9312003   PMID:9417041   PMID:9461590  
PMID:9653160   PMID:10022920   PMID:10036235   PMID:10343114   PMID:10391955   PMID:10480924   PMID:10589680   PMID:10749932   PMID:10913182   PMID:11042152   PMID:11226253   PMID:11266366  
PMID:11278939   PMID:11478794   PMID:11533043   PMID:11535061   PMID:11867621   PMID:11926829   PMID:11950392   PMID:12016212   PMID:12032069   PMID:12379803   PMID:12477932   PMID:12509462  
PMID:12526811   PMID:12799371   PMID:12847086   PMID:12860984   PMID:12902467   PMID:14573774   PMID:14607973   PMID:14617802   PMID:14625293   PMID:14659046   PMID:14662749   PMID:14675422  
PMID:14978216   PMID:15087504   PMID:15126638   PMID:15210957   PMID:15231847   PMID:15465916   PMID:15489334   PMID:15509780   PMID:15590645   PMID:15638726   PMID:15651983   PMID:15659652  
PMID:15679100   PMID:15802264   PMID:15817676   PMID:15897187   PMID:15923660   PMID:16099990   PMID:16148947   PMID:16213822   PMID:16341674   PMID:16344560   PMID:16413285   PMID:16415858  
PMID:16461286   PMID:16484220   PMID:16527809   PMID:16545942   PMID:16650966   PMID:16669702   PMID:16737952   PMID:17030804   PMID:17077126   PMID:17122362   PMID:17157409   PMID:17353931  
PMID:17398095   PMID:17461797   PMID:17560945   PMID:17623778   PMID:17628206   PMID:17640372   PMID:17643375   PMID:17719203   PMID:17804820   PMID:17846866   PMID:18000860   PMID:18084281  
PMID:18094045   PMID:18199687   PMID:18326492   PMID:18511905   PMID:18597672   PMID:18685082   PMID:18814847   PMID:19033387   PMID:19149577   PMID:19155310   PMID:19211056   PMID:19264606  
PMID:19276089   PMID:19327867   PMID:19359423   PMID:19365558   PMID:19642173   PMID:19644450   PMID:19666113   PMID:19738201   PMID:19855388   PMID:19946888   PMID:19948740   PMID:20018626  
PMID:20029029   PMID:20089652   PMID:20385769   PMID:20458337   PMID:20462959   PMID:20510928   PMID:20525696   PMID:20601426   PMID:20622010   PMID:20682791   PMID:20709080   PMID:20713492  
PMID:20727515   PMID:20848231   PMID:20945365   PMID:21148312   PMID:21198641   PMID:21346189   PMID:21423176   PMID:21438025   PMID:21439824   PMID:21634118   PMID:21654808   PMID:21790911  
PMID:21795701   PMID:21832049   PMID:21858086   PMID:21873635   PMID:21917951   PMID:21951725   PMID:22053287   PMID:22085542   PMID:22170068   PMID:22188517   PMID:22219378   PMID:22226746  
PMID:22453919   PMID:22522702   PMID:22523074   PMID:22558309   PMID:22580824   PMID:22659138   PMID:22666423   PMID:22701712   PMID:22781129   PMID:22907437   PMID:22916275   PMID:22931251  
PMID:22962618   PMID:23095975   PMID:23125841   PMID:23143332   PMID:23264734   PMID:23295182   PMID:23376485   PMID:23383273   PMID:23462101   PMID:23533145   PMID:23555901   PMID:23603394  
PMID:23752192   PMID:23950892   PMID:24056087   PMID:24085844   PMID:24139303   PMID:24392021   PMID:24407288   PMID:24526684   PMID:24581425   PMID:24637612   PMID:24797263   PMID:24835390  
PMID:24902879   PMID:24916416   PMID:25114232   PMID:25253741   PMID:25296758   PMID:25326380   PMID:25713146   PMID:25736891   PMID:25773595   PMID:25779663   PMID:25799492   PMID:26170135  
PMID:26186194   PMID:26344197   PMID:26372645   PMID:26379158   PMID:26503427   PMID:26760575   PMID:26884337   PMID:27031991   PMID:27044754   PMID:27044891   PMID:27061682   PMID:27261256  
PMID:27265506   PMID:27269287   PMID:27698019   PMID:27754741   PMID:27871329   PMID:27926873   PMID:28025100   PMID:28495929   PMID:28514442   PMID:28584192   PMID:28692057   PMID:28780751  
PMID:28870903   PMID:28900118   PMID:29058688   PMID:29119258   PMID:29237817   PMID:29276036   PMID:29388044   PMID:29511337   PMID:29568061   PMID:29724911   PMID:29786451   PMID:29848659  
PMID:29955894   PMID:29992963   PMID:30194290   PMID:30404949   PMID:30463901   PMID:30540496   PMID:30659120   PMID:30969891   PMID:31048499   PMID:31091453   PMID:31206670   PMID:31235936  
PMID:31308045   PMID:31439632   PMID:31586073   PMID:31591185   PMID:31740564   PMID:31752956   PMID:31907062   PMID:31924649   PMID:32077148   PMID:32296183   PMID:32353859   PMID:32780723  
PMID:33060197  


Genomics

Comparative Map Data
ARF6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1449,893,082 - 49,897,054 (+)EnsemblGRCh38hg38GRCh38
GRCh381449,893,082 - 49,897,054 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371450,359,800 - 50,363,772 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361449,429,486 - 49,433,522 (+)NCBINCBI36hg18NCBI36
Build 341449,429,588 - 49,431,484NCBI
Celera1430,226,871 - 30,230,907 (+)NCBI
Cytogenetic Map14q21.3NCBI
HuRef1430,484,292 - 30,488,326 (+)NCBIHuRef
CHM1_11450,297,978 - 50,302,011 (+)NCBICHM1_1
Arf6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391269,418,924 - 69,422,754 (+)NCBIGRCm39mm39
GRCm39 Ensembl1269,418,924 - 69,420,557 (+)Ensembl
GRCm381269,372,150 - 69,375,980 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1269,372,150 - 69,373,783 (+)EnsemblGRCm38mm10GRCm38
MGSCv371270,473,137 - 70,476,967 (+)NCBIGRCm37mm9NCBIm37
MGSCv361270,290,793 - 70,292,388 (+)NCBImm8
Celera1270,470,421 - 70,474,282 (+)NCBICelera
Cytogenetic Map12C2NCBI
Arf6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2687,853,742 - 87,854,890 (+)NCBI
Rnor_6.0 Ensembl691,697,109 - 91,698,255 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0691,697,109 - 91,698,257 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.06101,149,908 - 101,152,127 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4691,337,496 - 91,338,644 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1691,340,951 - 91,342,098 (+)NCBI
Celera686,351,473 - 86,352,621 (+)NCBICelera
Cytogenetic Map6q24NCBI
Arf6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540912,817,496 - 12,818,023 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540912,814,814 - 12,818,142 (-)NCBIChiLan1.0ChiLan1.0
ARF6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11448,788,586 - 48,792,641 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1448,789,329 - 48,789,856 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01430,482,191 - 30,486,741 (+)NCBIMhudiblu_PPA_v0panPan3
ARF6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1826,445,407 - 26,449,430 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl826,445,647 - 26,525,530 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha826,199,039 - 26,203,086 (+)NCBI
ROS_Cfam_1.0826,622,998 - 26,627,047 (+)NCBI
UMICH_Zoey_3.1826,278,479 - 26,282,519 (+)NCBI
UNSW_CanFamBas_1.0826,351,547 - 26,355,590 (+)NCBI
UU_Cfam_GSD_1.0826,669,436 - 26,673,480 (+)NCBI
Arf6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864058,503,422 - 58,507,422 (+)NCBI
SpeTri2.0NW_004936583181,490 - 185,466 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARF6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1179,697,615 - 179,717,844 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11179,697,582 - 179,717,299 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21200,071,305 - 200,075,268 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ARF6
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12426,948,794 - 26,952,803 (+)NCBI
ChlSab1.1 Ensembl2426,949,388 - 26,950,074 (+)Ensembl
Arf6
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473118,880,065 - 18,883,456 (-)NCBI

Position Markers
D14S793  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371450,362,895 - 50,363,011UniSTSGRCh37
Build 361449,432,645 - 49,432,761RGDNCBI36
Celera1430,230,030 - 30,230,146RGD
Cytogenetic Map14q21.3UniSTS
HuRef1430,487,449 - 30,487,565UniSTS
SHGC-64342  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37799,233,054 - 99,233,204UniSTSGRCh37
GRCh371450,363,360 - 50,363,510UniSTSGRCh37
Build 36799,070,990 - 99,071,140RGDNCBI36
Celera793,967,283 - 93,967,433RGD
Celera1430,230,495 - 30,230,645UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q21.3UniSTS
HuRef793,869,418 - 93,869,568UniSTS
HuRef1430,487,914 - 30,488,064UniSTS
CRA_TCAGchr7v2798,592,849 - 98,592,999UniSTS
TNG Radiation Hybrid Map1413754.0UniSTS
ARF6_719  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371450,360,461 - 50,361,353UniSTSGRCh37
Build 361449,430,211 - 49,431,103RGDNCBI36
Celera1430,227,596 - 30,228,488RGD
HuRef1430,485,017 - 30,485,907UniSTS
SHGC-64115  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37799,234,129 - 99,234,232UniSTSGRCh37
GRCh371450,362,647 - 50,362,750UniSTSGRCh37
Build 36799,072,065 - 99,072,168RGDNCBI36
Celera793,968,358 - 93,968,461RGD
Celera1430,229,782 - 30,229,885UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q21.3UniSTS
HuRef793,870,493 - 93,870,596UniSTS
HuRef1430,487,201 - 30,487,304UniSTS
CRA_TCAGchr7v2798,593,923 - 98,594,026UniSTS
TNG Radiation Hybrid Map1413714.0UniSTS
SHGC-2638  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37799,235,496 - 99,235,663UniSTSGRCh37
GRCh371450,361,220 - 50,361,390UniSTSGRCh37
Build 36799,073,432 - 99,073,599RGDNCBI36
Celera1430,228,355 - 30,228,525UniSTS
Celera793,969,725 - 93,969,892RGD
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map7q22.1UniSTS
HuRef1430,485,774 - 30,485,944UniSTS
HuRef793,871,860 - 93,872,027UniSTS
CRA_TCAGchr7v2798,595,289 - 98,595,456UniSTS
TNG Radiation Hybrid Map1413717.0UniSTS
GeneMap99-G3 RH Map141510.0UniSTS
RH80260  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q21.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:188
Count of miRNA genes:172
Interacting mature miRNAs:175
Transcripts:ENST00000298316
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 16
Medium 2438 2721 1716 618 1924 459 4335 1988 2988 415 1444 1612 175 1 1204 2766 6 2
Low 1 270 10 6 27 6 22 209 746 4 1 22
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF047432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF493885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL627171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY296206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM838197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA217686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M57763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000298316   ⟹   ENSP00000298316
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1449,893,082 - 49,897,054 (+)Ensembl
RefSeq Acc Id: NM_001663   ⟹   NP_001654
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381449,893,082 - 49,897,054 (+)NCBI
GRCh371450,359,736 - 50,363,772 (+)ENTREZGENE
Build 361449,429,486 - 49,433,522 (+)NCBI Archive
HuRef1430,484,292 - 30,488,326 (+)ENTREZGENE
CHM1_11450,297,978 - 50,302,011 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001654   ⟸   NM_001663
- UniProtKB: P62330 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000298316   ⟸   ENST00000298316

Promoters
RGD ID:6791268
Promoter ID:HG_KWN:19324
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:NM_001663
Position:
Human AssemblyChrPosition (strand)Source
Build 361449,428,741 - 49,429,507 (+)MPROMDB
RGD ID:6791266
Promoter ID:HG_KWN:19325
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:UC010ANR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361449,429,426 - 49,430,577 (+)MPROMDB
RGD ID:6853540
Promoter ID:EP74597
Type:initiation region
Name:HS_ARF6
Description:ADP-ribosylation factor 6.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361449,429,567 - 49,429,627EPD
RGD ID:7227537
Promoter ID:EPDNEW_H19514
Type:initiation region
Name:ARF6_1
Description:ADP ribosylation factor 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19515  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381449,893,096 - 49,893,156EPDNEW
RGD ID:7227539
Promoter ID:EPDNEW_H19515
Type:initiation region
Name:ARF6_2
Description:ADP ribosylation factor 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19514  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381449,893,506 - 49,893,566EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3 copy number gain See cases [RCV000140717] Chr14:39196172..56714461 [GRCh38]
Chr14:39665376..57181179 [GRCh37]
Chr14:38735127..56250932 [NCBI36]
Chr14:14q21.1-22.3
likely pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3 copy number gain See cases [RCV000447658] Chr14:23164384..54733411 [GRCh37]
Chr14:14q11.2-22.2
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
NM_001663.4(ARF6):c.51C>T (p.Leu17=) single nucleotide variant not provided [RCV000881535] Chr14:49893787 [GRCh38]
Chr14:50360505 [GRCh37]
Chr14:14q21.3
benign
NM_001663.4(ARF6):c.219C>T (p.Leu73=) single nucleotide variant not provided [RCV000965938] Chr14:49893955 [GRCh38]
Chr14:50360673 [GRCh37]
Chr14:14q21.3
benign
NC_000014.8:g.(?_50092240)_(50698021_?)dup duplication Noonan syndrome 9 [RCV000799423] Chr14:49625522..50231303 [GRCh38]
Chr14:50092240..50698021 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_001663.4(ARF6):c.187G>A (p.Asp63Asn) single nucleotide variant not provided [RCV000851183] Chr14:49893923 [GRCh38]
Chr14:50360641 [GRCh37]
Chr14:14q21.3
uncertain significance
GRCh37/hg19 14q21.3-22.1(chr14:50317272-51627752)x3 copy number gain not provided [RCV001006632] Chr14:50317272..51627752 [GRCh37]
Chr14:14q21.3-22.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:659 AgrOrtholog
COSMIC ARF6 COSMIC
Ensembl Genes ENSG00000165527 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000298316 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000298316 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000165527 GTEx
HGNC ID HGNC:659 ENTREZGENE
Human Proteome Map ARF6 Human Proteome Map
InterPro Arf6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTP-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTPase_ARF/SAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:382 UniProtKB/Swiss-Prot
NCBI Gene 382 ENTREZGENE
OMIM 600464 OMIM
Pfam Arf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24942 PharmGKB
PRINTS SAR1GTPBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ARF UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs small_GTP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ARF6_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6FH17_HUMAN UniProtKB/TrEMBL
UniProt Secondary P26438 UniProtKB/Swiss-Prot
  Q6FGZ2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 ARF6  ADP ribosylation factor 6  ARF6  ADP-ribosylation factor 6  Symbol and/or name change 5135510 APPROVED