ARL8B (ADP ribosylation factor like GTPase 8B) - Rat Genome Database

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Gene: ARL8B (ADP ribosylation factor like GTPase 8B) Homo sapiens
Analyze
Symbol: ARL8B
Name: ADP ribosylation factor like GTPase 8B
RGD ID: 1351870
HGNC Page HGNC
Description: Enables guanyl ribonucleotide binding activity and tubulin binding activity. Involved in several processes, including calcium ion regulated lysosome exocytosis; lysosomal transport; and vesicle fusion. Located in cytolytic granule membrane; midbody; and spindle midzone. Colocalizes with lysosomal membrane; INTERACTS WITH acrolein; alpha-pinene; arsenous acid.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: ADP-ribosylation factor like GTPase 8B; ADP-ribosylation factor-like 10C; ADP-ribosylation factor-like 8B; ADP-ribosylation factor-like protein 10C; ADP-ribosylation factor-like protein 8B; ARL10C; FLJ10702; Gie1; GTPase indispensable for equal segregation of chromosomes 1; novel small G protein indispensable for equal chromosome segregation 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100131223   LOC100131625  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl35,122,249 - 5,180,911 (+)EnsemblGRCh38hg38GRCh38
GRCh3835,122,292 - 5,180,911 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3735,163,977 - 5,222,596 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3635,138,930 - 5,197,601 (+)NCBINCBI36hg18NCBI36
Build 3435,138,929 - 5,197,599NCBI
Celera35,101,851 - 5,160,484 (+)NCBI
Cytogenetic Map3p26.1NCBI
HuRef35,096,488 - 5,155,029 (+)NCBIHuRef
CHM1_135,114,266 - 5,172,980 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

Additional References at PubMed
PMID:14702039   PMID:14871887   PMID:15331635   PMID:15489334   PMID:15761153   PMID:16169070   PMID:16537643   PMID:16650381   PMID:19056867   PMID:19322201   PMID:19398576   PMID:19946888  
PMID:21674799   PMID:21802320   PMID:21824248   PMID:21832049   PMID:21873635   PMID:21988832   PMID:22172677   PMID:22993228   PMID:23166591   PMID:24088571   PMID:25609649   PMID:25898167  
PMID:25908847   PMID:26186194   PMID:26344197   PMID:27105540   PMID:27173435   PMID:27432908   PMID:27808481   PMID:28325809   PMID:28514442   PMID:28993467   PMID:29180619   PMID:29360040  
PMID:29564676   PMID:29592961   PMID:29635000   PMID:30212607   PMID:30425250   PMID:30471916   PMID:30575818   PMID:31046837   PMID:31536960   PMID:31995728   PMID:32296183   PMID:32393512  
PMID:32913203   PMID:33144569   PMID:33157038   PMID:33567341   PMID:33961781  


Genomics

Comparative Map Data
ARL8B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl35,122,249 - 5,180,911 (+)EnsemblGRCh38hg38GRCh38
GRCh3835,122,292 - 5,180,911 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3735,163,977 - 5,222,596 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3635,138,930 - 5,197,601 (+)NCBINCBI36hg18NCBI36
Build 3435,138,929 - 5,197,599NCBI
Celera35,101,851 - 5,160,484 (+)NCBI
Cytogenetic Map3p26.1NCBI
HuRef35,096,488 - 5,155,029 (+)NCBIHuRef
CHM1_135,114,266 - 5,172,980 (+)NCBICHM1_1
Arl8b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396108,760,020 - 108,800,684 (+)NCBIGRCm39mm39
GRCm39 Ensembl6108,760,060 - 108,802,239 (+)Ensembl
GRCm386108,783,059 - 108,823,723 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6108,783,099 - 108,825,278 (+)EnsemblGRCm38mm10GRCm38
MGSCv376108,733,053 - 108,773,717 (+)NCBIGRCm37mm9NCBIm37
MGSCv366108,748,887 - 108,789,496 (+)NCBImm8
Celera6110,581,538 - 110,625,807 (+)NCBICelera
Cytogenetic Map6E2NCBI
Arl8b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.24141,748,634 - 141,792,605 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl4141,748,587 - 141,792,596 (+)Ensembl
Rnor_6.04140,837,745 - 140,881,866 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4140,837,745 - 140,881,865 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04217,450,494 - 217,494,707 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44144,299,366 - 144,344,431 (+)NCBIRGSC3.4rn4RGSC3.4
Celera4130,399,834 - 130,444,983 (+)NCBICelera
Cytogenetic Map4q41NCBI
Arl8b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554218,231,582 - 8,276,907 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554218,231,337 - 8,276,907 (-)NCBIChiLan1.0ChiLan1.0
ARL8B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.135,169,950 - 5,225,550 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl35,169,950 - 5,225,543 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v035,069,592 - 5,127,301 (+)NCBIMhudiblu_PPA_v0panPan3
ARL8B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12012,479,680 - 12,525,330 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2012,481,860 - 12,525,499 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2012,454,038 - 12,499,863 (-)NCBI
ROS_Cfam_1.02012,523,061 - 12,568,915 (-)NCBI
UMICH_Zoey_3.12012,228,473 - 12,274,183 (-)NCBI
UNSW_CanFamBas_1.02012,569,937 - 12,615,505 (-)NCBI
UU_Cfam_GSD_1.02012,556,036 - 12,601,620 (-)NCBI
Arl8b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494211,475,542 - 11,519,807 (+)NCBI
SpeTri2.0NW_0049365774,430,939 - 4,475,186 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARL8B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1361,640,659 - 61,720,719 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11361,640,619 - 61,696,819 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21367,874,603 - 67,921,540 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.21368,038,504 - 68,047,742 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ARL8B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12241,192,458 - 41,247,048 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2241,192,484 - 41,244,822 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666041125,375,218 - 125,430,540 (-)NCBIVero_WHO_p1.0
Arl8b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477315,785,883 - 15,833,832 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-76670  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3735,166,107 - 5,166,266UniSTSGRCh37
Build 3635,141,107 - 5,141,266RGDNCBI36
Celera35,104,028 - 5,104,187RGD
Cytogenetic Map3p26.1UniSTS
HuRef35,098,551 - 5,098,710UniSTS
TNG Radiation Hybrid Map32899.0UniSTS
GeneMap99-GB4 RH Map321.39UniSTS
NCBI RH Map310.0UniSTS
SHGC-76669  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3735,221,628 - 5,221,899UniSTSGRCh37
Build 3635,196,628 - 5,196,899RGDNCBI36
Celera35,159,511 - 5,159,782RGD
Cytogenetic Map3p26.1UniSTS
HuRef35,154,045 - 5,154,316UniSTS
TNG Radiation Hybrid Map32953.0UniSTS
GeneMap99-GB4 RH Map320.37UniSTS
Whitehead-RH Map324.7UniSTS
NCBI RH Map310.0UniSTS
RH98975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3735,220,968 - 5,221,088UniSTSGRCh37
Build 3635,195,968 - 5,196,088RGDNCBI36
Celera35,158,851 - 5,158,971RGD
Cytogenetic Map3p26.1UniSTS
HuRef35,153,385 - 5,153,505UniSTS
GeneMap99-GB4 RH Map325.14UniSTS
SHGC-81116  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3735,214,103 - 5,214,385UniSTSGRCh37
Build 3635,189,103 - 5,189,385RGDNCBI36
Celera35,152,006 - 5,152,288RGD
Cytogenetic Map3p26.1UniSTS
HuRef35,146,554 - 5,146,836UniSTS
TNG Radiation Hybrid Map32962.0UniSTS
D3S2771E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371943,908,288 - 43,908,491UniSTSGRCh37
GRCh3735,220,411 - 5,220,614UniSTSGRCh37
Build 3635,195,411 - 5,195,614RGDNCBI36
Celera1940,709,026 - 40,709,229UniSTS
Celera35,158,294 - 5,158,497RGD
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map19q13.31UniSTS
HuRef1940,338,190 - 40,338,393UniSTS
HuRef35,152,828 - 5,153,031UniSTS
D3S2799E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3735,220,805 - 5,220,890UniSTSGRCh37
Build 3635,195,805 - 5,195,890RGDNCBI36
Celera35,158,688 - 5,158,773RGD
Cytogenetic Map3p26.1UniSTS
HuRef35,153,222 - 5,153,307UniSTS
D3S2357  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3735,181,144 - 5,181,346UniSTSGRCh37
Build 3635,156,144 - 5,156,346RGDNCBI36
Celera35,119,047 - 5,119,249RGD
Cytogenetic Map3p26.1UniSTS
HuRef35,113,583 - 5,113,785UniSTS
TNG Radiation Hybrid Map33008.0UniSTS
Whitehead-YAC Contig Map3 UniSTS
1612  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3735,222,202 - 5,222,279UniSTSGRCh37
Build 3635,197,202 - 5,197,279RGDNCBI36
Celera35,160,085 - 5,160,162RGD
Cytogenetic Map3p26.1UniSTS
HuRef35,154,619 - 5,154,696UniSTS
GeneMap99-GB4 RH Map320.47UniSTS
NCBI RH Map315.2UniSTS
RH68941  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p26.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2122
Count of miRNA genes:845
Interacting mature miRNAs:972
Transcripts:ENST00000256496, ENST00000419534, ENST00000429403, ENST00000444332, ENST00000455168, ENST00000468010, ENST00000476343
Prediction methods:Microtar, 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 2439 2802 1717 616 1855 457 4357 2108 3708 415 1459 1612 175 1 1203 2788 6 2
Low 189 9 8 95 8 89 26 4 1 1 1
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000256496   ⟹   ENSP00000256496
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl35,122,292 - 5,180,911 (+)Ensembl
RefSeq Acc Id: ENST00000419534   ⟹   ENSP00000402996
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl35,122,296 - 5,179,805 (+)Ensembl
RefSeq Acc Id: ENST00000429403   ⟹   ENSP00000405196
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl35,122,249 - 5,172,735 (+)Ensembl
RefSeq Acc Id: ENST00000444332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl35,122,292 - 5,170,937 (+)Ensembl
RefSeq Acc Id: ENST00000455168   ⟹   ENSP00000400831
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl35,122,292 - 5,179,646 (+)Ensembl
RefSeq Acc Id: ENST00000468010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl35,170,552 - 5,178,969 (+)Ensembl
RefSeq Acc Id: ENST00000476343
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl35,174,253 - 5,178,708 (+)Ensembl
RefSeq Acc Id: ENST00000611208   ⟹   ENSP00000479202
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl35,122,245 - 5,180,912 (+)Ensembl
RefSeq Acc Id: NM_018184   ⟹   NP_060654
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3835,122,292 - 5,180,911 (+)NCBI
GRCh3735,163,930 - 5,222,601 (+)RGD
Build 3635,138,930 - 5,197,601 (+)NCBI Archive
Celera35,101,851 - 5,160,484 (+)RGD
HuRef35,096,488 - 5,155,029 (+)ENTREZGENE
CHM1_135,114,266 - 5,172,980 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_060654   ⟸   NM_018184
- UniProtKB: Q9NVJ2 (UniProtKB/Swiss-Prot),   A0A024R2D4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000256496   ⟸   ENST00000256496
RefSeq Acc Id: ENSP00000479202   ⟸   ENST00000611208
RefSeq Acc Id: ENSP00000405196   ⟸   ENST00000429403
RefSeq Acc Id: ENSP00000400831   ⟸   ENST00000455168
RefSeq Acc Id: ENSP00000402996   ⟸   ENST00000419534

Promoters
RGD ID:6863430
Promoter ID:EPDNEW_H4880
Type:initiation region
Name:ARL8B_1
Description:ADP ribosylation factor like GTPase 8B
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
GRCh3835,122,292 - 5,122,352EPDNEW
RGD ID:6800628
Promoter ID:HG_KWN:43522
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:OTTHUMT00000206910,   OTTHUMT00000337571,   OTTHUMT00000337573,   OTTHUMT00000337574,   OTTHUMT00000337575
Position:
Human AssemblyChrPosition (strand)Source
Build 3635,138,796 - 5,139,296 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p26.3-26.1(chr3:1984526-6852981)x1 copy number loss See cases [RCV000050822] Chr3:1984526..6852981 [GRCh38]
Chr3:2026210..6894668 [GRCh37]
Chr3:2001210..6869668 [NCBI36]
Chr3:3p26.3-26.1
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1 copy number loss See cases [RCV000051447] Chr3:52266..11089569 [GRCh38]
Chr3:93949..11131255 [GRCh37]
Chr3:68949..11106255 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:52266-8582037)x1 copy number loss See cases [RCV000051474] Chr3:52266..8582037 [GRCh38]
Chr3:93949..8623723 [GRCh37]
Chr3:68949..8598723 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
GRCh38/hg38 3p26.3-26.1(chr3:63843-6977502)x1 copy number loss See cases [RCV000051475] Chr3:63843..6977502 [GRCh38]
Chr3:105526..7019189 [GRCh37]
Chr3:80526..6994189 [NCBI36]
Chr3:3p26.3-26.1
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:63843-9507969)x1 copy number loss See cases [RCV000051476] Chr3:63843..9507969 [GRCh38]
Chr3:105526..9549653 [GRCh37]
Chr3:80526..9524653 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:63843-8258109)x1 copy number loss See cases [RCV000051478] Chr3:63843..8258109 [GRCh38]
Chr3:105526..8299796 [GRCh37]
Chr3:80526..8274796 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 copy number gain See cases [RCV000051097] Chr3:52266..37148076 [GRCh38]
Chr3:93949..37189567 [GRCh37]
Chr3:68949..37164571 [NCBI36]
Chr3:3p26.3-22.2
pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:52066-20280127)x3 copy number gain See cases [RCV000051690] Chr3:52066..20280127 [GRCh38]
Chr3:93749..20321619 [GRCh37]
Chr3:68749..20296623 [NCBI36]
Chr3:3p26.3-24.3
pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|See cases [RCV000051718] Chr3:52266..29248782 [GRCh38]
Chr3:93949..29290273 [GRCh37]
Chr3:68949..29265277 [NCBI36]
Chr3:3p26.3-24.1
pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3 copy number gain See cases [RCV000051719] Chr3:63843..19510600 [GRCh38]
Chr3:105526..19552092 [GRCh37]
Chr3:80526..19527096 [NCBI36]
Chr3:3p26.3-24.3
pathogenic
GRCh38/hg38 3p26.1(chr3:4746966-5426775)x1 copy number loss See cases [RCV000053924] Chr3:4746966..5426775 [GRCh38]
Chr3:4788650..5468461 [GRCh37]
Chr3:4763650..5443461 [NCBI36]
Chr3:3p26.1
uncertain significance
GRCh38/hg38 3p26.3-26.1(chr3:32241-5791120)x1 copy number loss See cases [RCV000134257] Chr3:32241..5791120 [GRCh38]
Chr3:73914..5832807 [GRCh37]
Chr3:48914..5807807 [NCBI36]
Chr3:3p26.3-26.1
pathogenic
GRCh38/hg38 3p26.3-26.1(chr3:52266-5138262)x1 copy number loss See cases [RCV000135586] Chr3:52266..5138262 [GRCh38]
Chr3:93949..5179947 [GRCh37]
Chr3:68949..5154947 [NCBI36]
Chr3:3p26.3-26.1
pathogenic
GRCh38/hg38 3p26.2-26.1(chr3:2920886-5861108)x1 copy number loss See cases [RCV000136600] Chr3:2920886..5861108 [GRCh38]
Chr3:2962570..5902795 [GRCh37]
Chr3:2937570..5877795 [NCBI36]
Chr3:3p26.2-26.1
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:52266-9450310)x1 copy number loss See cases [RCV000137109] Chr3:52266..9450310 [GRCh38]
Chr3:93949..9491994 [GRCh37]
Chr3:68949..9466994 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
GRCh38/hg38 3p26.3-26.1(chr3:52266-6277604)x1 copy number loss See cases [RCV000136675] Chr3:52266..6277604 [GRCh38]
Chr3:93949..6319291 [GRCh37]
Chr3:68949..6294291 [NCBI36]
Chr3:3p26.3-26.1
pathogenic
GRCh38/hg38 3p26.1(chr3:4803434-6476213)x3 copy number gain See cases [RCV000137290] Chr3:4803434..6476213 [GRCh38]
Chr3:4845118..6517900 [GRCh37]
Chr3:4820118..6492900 [NCBI36]
Chr3:3p26.1
uncertain significance
GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1 copy number loss See cases [RCV000138143] Chr3:32241..12681483 [GRCh38]
Chr3:73914..12722982 [GRCh37]
Chr3:48914..12697982 [NCBI36]
Chr3:3p26.3-25.2
pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 copy number gain See cases [RCV000138004] Chr3:32241..30064208 [GRCh38]
Chr3:73914..30105699 [GRCh37]
Chr3:48914..30080703 [NCBI36]
Chr3:3p26.3-24.1
pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3 copy number gain See cases [RCV000137941] Chr3:32241..20334387 [GRCh38]
Chr3:73914..20375879 [GRCh37]
Chr3:48914..20350883 [NCBI36]
Chr3:3p26.3-24.3
pathogenic
GRCh38/hg38 3p26.3-26.1(chr3:32241-6065999)x1 copy number loss See cases [RCV000138552] Chr3:32241..6065999 [GRCh38]
Chr3:73914..6107686 [GRCh37]
Chr3:48914..6082686 [NCBI36]
Chr3:3p26.3-26.1
pathogenic
GRCh38/hg38 3p26.3-26.1(chr3:32241-7056717)x1 copy number loss See cases [RCV000138287] Chr3:32241..7056717 [GRCh38]
Chr3:73914..7098404 [GRCh37]
Chr3:48914..7073404 [NCBI36]
Chr3:3p26.3-26.1
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1 copy number loss See cases [RCV000138376] Chr3:32241..11379835 [GRCh38]
Chr3:73914..11421309 [GRCh37]
Chr3:48914..11396309 [NCBI36]
Chr3:3p26.3-25.3
pathogenic|likely benign
GRCh38/hg38 3p26.3-25.3(chr3:32241-9469506)x1 copy number loss See cases [RCV000139253] Chr3:32241..9469506 [GRCh38]
Chr3:73914..9511190 [GRCh37]
Chr3:48914..9486190 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:52747-8370373)x1 copy number loss See cases [RCV000139164] Chr3:52747..8370373 [GRCh38]
Chr3:94430..8412059 [GRCh37]
Chr3:69430..8387059 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3 copy number gain See cases [RCV000138946] Chr3:32241..13613818 [GRCh38]
Chr3:73914..13655318 [GRCh37]
Chr3:48914..13630319 [NCBI36]
Chr3:3p26.3-25.1
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-9574994)x1 copy number loss See cases [RCV000140239] Chr3:32241..9574994 [GRCh38]
Chr3:73914..9616678 [GRCh37]
Chr3:48914..9591678 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-8165256)x3 copy number gain See cases [RCV000141319] Chr3:32241..8165256 [GRCh38]
Chr3:73914..8206943 [GRCh37]
Chr3:48914..8181943 [NCBI36]
Chr3:3p26.3-25.3
likely pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-9066287)x1 copy number loss See cases [RCV000140848] Chr3:32241..9066287 [GRCh38]
Chr3:73914..9107971 [GRCh37]
Chr3:48914..9082971 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 copy number gain See cases [RCV000141810] Chr3:53308..41381521 [GRCh38]
Chr3:94991..41423012 [GRCh37]
Chr3:69991..41398016 [NCBI36]
Chr3:3p26.3-22.1
pathogenic
GRCh38/hg38 3p26.2-26.1(chr3:3383802-6623172)x3 copy number gain See cases [RCV000141838] Chr3:3383802..6623172 [GRCh38]
Chr3:3425486..6664859 [GRCh37]
Chr3:3400486..6639859 [NCBI36]
Chr3:3p26.2-26.1
uncertain significance
GRCh38/hg38 3p26.2-26.1(chr3:2891585-5911622)x1 copy number loss See cases [RCV000141647] Chr3:2891585..5911622 [GRCh38]
Chr3:2933269..5953309 [GRCh37]
Chr3:2908269..5928309 [NCBI36]
Chr3:3p26.2-26.1
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1 copy number loss See cases [RCV000141731] Chr3:20213..11221602 [GRCh38]
Chr3:61891..11263288 [GRCh37]
Chr3:36891..11238288 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:20213-9362037)x1 copy number loss See cases [RCV000142284] Chr3:20213..9362037 [GRCh38]
Chr3:61891..9403721 [GRCh37]
Chr3:36891..9378721 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
GRCh38/hg38 3p26.1(chr3:4952791-5689195)x3 copy number gain See cases [RCV000142508] Chr3:4952791..5689195 [GRCh38]
Chr3:4994476..5730882 [GRCh37]
Chr3:4969476..5705882 [NCBI36]
Chr3:3p26.1
likely benign
GRCh38/hg38 3p26.1(chr3:4827431-5187097)x3 copy number gain See cases [RCV000142660] Chr3:4827431..5187097 [GRCh38]
Chr3:4869115..5228782 [GRCh37]
Chr3:4844115..5203782 [NCBI36]
Chr3:3p26.1
uncertain significance
GRCh38/hg38 3p26.3-26.1(chr3:52266-5966084)x3 copy number gain See cases [RCV000142519] Chr3:52266..5966084 [GRCh38]
Chr3:93949..6007771 [GRCh37]
Chr3:68949..5982771 [NCBI36]
Chr3:3p26.3-26.1
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1 copy number loss See cases [RCV000143325] Chr3:32241..10323124 [GRCh38]
Chr3:73914..10364808 [GRCh37]
Chr3:48914..10339808 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1 copy number loss See cases [RCV000143173] Chr3:32241..10631310 [GRCh38]
Chr3:73914..10672995 [GRCh37]
Chr3:48914..10647995 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1 copy number loss See cases [RCV000143706] Chr3:688897..11051142 [GRCh38]
Chr3:730581..11092828 [GRCh37]
Chr3:705581..11067828 [NCBI36]
Chr3:3p26.3-25.3
pathogenic
GRCh37/hg19 3p26.1(chr3:4726822-5164213)x4 copy number gain Ductal breast carcinoma [RCV000207193] Chr3:4726822..5164213 [GRCh37]
Chr3:3p26.1
uncertain significance
GRCh37/hg19 3p26.1(chr3:4706901-5216065)x3 copy number gain Ductal breast carcinoma [RCV000207046] Chr3:4706901..5216065 [GRCh37]
Chr3:3p26.1
uncertain significance
GRCh37/hg19 3p26.3-26.1(chr3:93949-5427855) copy number loss Global developmental delay [RCV000626532] Chr3:93949..5427855 [GRCh37]
Chr3:3p26.3-26.1
likely pathogenic
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)x3 copy number gain See cases [RCV000447247] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2
pathogenic
GRCh37/hg19 3p26.1(chr3:4451309-7125486)x3 copy number gain See cases [RCV000448789] Chr3:4451309..7125486 [GRCh37]
Chr3:3p26.1
uncertain significance
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3 copy number gain See cases [RCV000448528] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2
pathogenic
GRCh37/hg19 3p26.3-26.1(chr3:61891-8600971)x1 copy number loss See cases [RCV000447756] Chr3:61891..8600971 [GRCh37]
Chr3:3p26.3-26.1
pathogenic
GRCh37/hg19 3p26.3-26.1(chr3:61891-7865381)x1 copy number loss See cases [RCV000510414] Chr3:61891..7865381 [GRCh37]
Chr3:3p26.3-26.1
pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3 copy number gain See cases [RCV000510429] Chr3:61891..33958201 [GRCh37]
Chr3:3p26.3-22.3
pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3 copy number gain See cases [RCV000511463] Chr3:61891..37459464 [GRCh37]
Chr3:3p26.3-22.2
pathogenic
GRCh37/hg19 3p26.3-25.3(chr3:61891-8777555)x1 copy number loss See cases [RCV000511872] Chr3:61891..8777555 [GRCh37]
Chr3:3p26.3-25.3
pathogenic
GRCh37/hg19 3p26.3-25.2(chr3:61891-12575409)x1 copy number loss See cases [RCV000511155] Chr3:61891..12575409 [GRCh37]
Chr3:3p26.3-25.2
pathogenic
GRCh37/hg19 3p26.3-26.1(chr3:61891-7456866)x1 copy number loss See cases [RCV000511041] Chr3:61891..7456866 [GRCh37]
Chr3:3p26.3-26.1
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.2-26.1(chr3:2930451-5953602)x1 copy number loss See cases [RCV000512359] Chr3:2930451..5953602 [GRCh37]
Chr3:3p26.2-26.1
pathogenic
GRCh37/hg19 3p26.1(chr3:5163403-7918601)x1 copy number loss not provided [RCV000682232] Chr3:5163403..7918601 [GRCh37]
Chr3:3p26.1
likely pathogenic
GRCh37/hg19 3p26.3-26.1(chr3:61891-5167964)x1 copy number loss not provided [RCV000682175] Chr3:61891..5167964 [GRCh37]
Chr3:3p26.3-26.1
pathogenic
GRCh37/hg19 3p26.3-26.1(chr3:61891-7486254)x1 copy number loss not provided [RCV000682177] Chr3:61891..7486254 [GRCh37]
Chr3:3p26.3-26.1
pathogenic
GRCh37/hg19 3p26.3-26.1(chr3:61891-7875536)x1 copy number loss not provided [RCV000682178] Chr3:61891..7875536 [GRCh37]
Chr3:3p26.3-26.1
pathogenic
GRCh37/hg19 3p26.3-26.1(chr3:61891-8173161)x1 copy number loss not provided [RCV000682179] Chr3:61891..8173161 [GRCh37]
Chr3:3p26.3-26.1
pathogenic
GRCh37/hg19 3p26.3-25.3(chr3:61891-10104842)x1 copy number loss not provided [RCV000682180] Chr3:61891..10104842 [GRCh37]
Chr3:3p26.3-25.3
pathogenic
GRCh37/hg19 3p26.3-26.1(chr3:61891-7032830)x1 copy number loss not provided [RCV000682176] Chr3:61891..7032830 [GRCh37]
Chr3:3p26.3-26.1
pathogenic
GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3 copy number gain not provided [RCV000682215] Chr3:1897972..19519085 [GRCh37]
Chr3:3p26.3-24.3
pathogenic
GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3 copy number gain not provided [RCV000682233] Chr3:5173870..16760262 [GRCh37]
Chr3:3p26.1-24.3
pathogenic
Single allele duplication not provided [RCV000677945] Chr3:4420613..5260890 [GRCh37]
Chr3:3p26.1
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.1(chr3:4802573-5226799)x3 copy number gain not provided [RCV000742186] Chr3:4802573..5226799 [GRCh37]
Chr3:3p26.1
benign
GRCh37/hg19 3p26.3-26.1(chr3:107776-5257572) copy number loss not provided [RCV000767705] Chr3:107776..5257572 [GRCh37]
Chr3:3p26.3-26.1
pathogenic
GRCh37/hg19 3p26.3-26.1(chr3:61891-8269583)x1 copy number loss not provided [RCV000848341] Chr3:61891..8269583 [GRCh37]
Chr3:3p26.3-26.1
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787442] Chr3:36016..9307855 [GRCh37]
Chr3:3p26.3-25.3
likely pathogenic
GRCh37/hg19 3p26.1(chr3:4812298-5515770)x3 copy number gain See cases [RCV000790612] Chr3:4812298..5515770 [GRCh37]
Chr3:3p26.1
uncertain significance
GRCh37/hg19 3p26.3-26.1(chr3:61891-6067006)x1 copy number loss not provided [RCV000849206] Chr3:61891..6067006 [GRCh37]
Chr3:3p26.3-26.1
pathogenic
GRCh37/hg19 3p26.3-26.1(chr3:61891-8269583)x1 copy number loss not provided [RCV000848339] Chr3:61891..8269583 [GRCh37]
Chr3:3p26.3-26.1
pathogenic
GRCh37/hg19 3p26.1(chr3:5163462-7925439)x1 copy number loss not provided [RCV000845777] Chr3:5163462..7925439 [GRCh37]
Chr3:3p26.1
uncertain significance
GRCh37/hg19 3p26.3-25.3(chr3:61891-10287825)x1 copy number loss not provided [RCV001007530] Chr3:61891..10287825 [GRCh37]
Chr3:3p26.3-25.3
pathogenic
GRCh37/hg19 3p26.1(chr3:4921390-5408983)x3 copy number gain not provided [RCV001259809] Chr3:4921390..5408983 [GRCh37]
Chr3:3p26.1
uncertain significance
GRCh37/hg19 3p26.3-26.1(chr3:73914-5940479) copy number loss Abnormality of brain morphology [RCV001352655] Chr3:73914..5940479 [GRCh37]
Chr3:3p26.3-26.1
pathogenic
GRCh37/hg19 3p26.3-26.1(chr3:60001-8472742)x1 copy number loss not provided [RCV001537925] Chr3:60001..8472742 [GRCh37]
Chr3:3p26.3-26.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25564 AgrOrtholog
COSMIC ARL8B COSMIC
Ensembl Genes ENSG00000134108 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000256496 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000400831 UniProtKB/TrEMBL
  ENSP00000402996 UniProtKB/Swiss-Prot
  ENSP00000405196 UniProtKB/TrEMBL
  ENSP00000502339 UniProtKB/TrEMBL
Ensembl Transcript ENST00000256496 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000419534 UniProtKB/Swiss-Prot
  ENST00000429403 UniProtKB/TrEMBL
  ENST00000455168 UniProtKB/TrEMBL
  ENST00000468010 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot
GTEx ENSG00000134108 GTEx
HGNC ID HGNC:25564 ENTREZGENE
Human Proteome Map ARL8B Human Proteome Map
InterPro Arl8a/8b UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot
  Small_GTP-bd_dom UniProtKB/Swiss-Prot
  Small_GTPase_ARF/SAR UniProtKB/Swiss-Prot
KEGG Report hsa:55207 UniProtKB/Swiss-Prot
NCBI Gene 55207 ENTREZGENE
OMIM 616596 OMIM
Pfam Arf UniProtKB/Swiss-Prot
PharmGKB PA134959531 PharmGKB
PRINTS SAR1GTPBP UniProtKB/Swiss-Prot
PROSITE ARF UniProtKB/Swiss-Prot
SMART SAR UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot
TIGRFAMs small_GTP UniProtKB/Swiss-Prot
UniProt A0A024R2D4 ENTREZGENE
  A0A6Q8PGM9_HUMAN UniProtKB/TrEMBL
  ARL8B_HUMAN UniProtKB/Swiss-Prot
  F2Z344_HUMAN UniProtKB/TrEMBL
  F8WAW5_HUMAN UniProtKB/TrEMBL
  Q9NVJ2 ENTREZGENE
UniProt Secondary B4DI85 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 ARL8B  ADP ribosylation factor like GTPase 8B    ADP-ribosylation factor like GTPase 8B  Symbol and/or name change 5135510 APPROVED
2015-11-17 ARL8B  ADP-ribosylation factor like GTPase 8B    ADP-ribosylation factor-like 8B  Symbol and/or name change 5135510 APPROVED