ARRDC3 (arrestin domain containing 3) - Rat Genome Database

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Gene: ARRDC3 (arrestin domain containing 3) Homo sapiens
Analyze
Symbol: ARRDC3
Name: arrestin domain containing 3
RGD ID: 1348140
HGNC Page HGNC:29263
Description: Enables beta-3 adrenergic receptor binding activity. Involved in positive regulation of hippo signaling. Located in endosome and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alpha-arrestin 3; arrestin domain-containing protein 3; KIAA1376; TBP-2-like inducible membrane protein; thioredoxin-binding protein-2-like inducible membrane; TLIMP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh38591,368,631 - 91,383,317 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl591,368,631 - 91,383,317 (-)EnsemblGRCh38hg38GRCh38
GRCh37590,664,448 - 90,679,134 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36590,700,297 - 90,714,877 (-)NCBINCBI36Build 36hg18NCBI36
Build 34590,700,297 - 90,714,877NCBI
Celera586,566,595 - 86,581,203 (-)NCBICelera
Cytogenetic Map5q14.3NCBI
HuRef585,876,398 - 85,891,271 (-)NCBIHuRef
CHM1_1590,097,255 - 90,111,863 (-)NCBICHM1_1
T2T-CHM13v2.0591,852,479 - 91,867,169 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-demecolcine  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-diaminotoluene  (ISO)
2-methylcholine  (EXP)
3,3',5-triiodo-L-thyronine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4-hydroxynon-2-enal  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
Alisol A  (ISO)
Alisol B  (ISO)
Alisol C 23-acetate  (ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
amosite asbestos  (EXP)
amphetamine  (ISO)
ampicillin  (EXP)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
cadmium sulfate  (ISO)
calcitriol  (EXP)
cannabidiol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
chromium atom  (EXP)
chromium(6+)  (EXP)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
coumestrol  (EXP)
crocidolite asbestos  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
diarsenic trioxide  (EXP)
diazinon  (EXP)
dichloroacetic acid  (ISO)
diclofenac  (ISO)
dioxygen  (EXP)
diuron  (EXP,ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (EXP,ISO)
ethyl methanesulfonate  (EXP)
fentin chloride  (ISO)
folic acid  (EXP,ISO)
formaldehyde  (EXP)
gentamycin  (ISO)
glycidol  (ISO)
glyphosate  (ISO)
indole-3-methanol  (ISO)
indometacin  (EXP)
inulin  (ISO)
iron atom  (EXP)
iron(0)  (EXP)
isoprenaline  (ISO)
leflunomide  (EXP)
lipopolysaccharide  (ISO)
metformin  (ISO)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
methylisothiazolinone  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
N-acetyl-L-cysteine  (ISO)
N-nitrosodiethylamine  (ISO)
ochratoxin A  (EXP)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
phenylephrine  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pravastatin  (ISO)
prednisolone  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
quercetin  (EXP)
quinolin-8-ol  (EXP)
resorcinol  (EXP)
rotenone  (ISO)
sodium arsenate  (ISO)
sulfadimethoxine  (ISO)
sulindac  (EXP)
Tesaglitazar  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vanadyl sulfate  (EXP)
vinclozolin  (ISO)
zaragozic acid A  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IEA)
early endosome  (IEA)
endosome  (IBA,IDA,IEA)
lysosome  (IEA)
plasma membrane  (IBA,IDA,IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:10718198   PMID:15489334   PMID:16269462   PMID:16344560   PMID:17207965   PMID:19605364   PMID:20306291   PMID:20559325   PMID:20603614   PMID:21191027   PMID:21652578   PMID:21873635  
PMID:21982743   PMID:22589738   PMID:23208550   PMID:23236378   PMID:23319801   PMID:23886940   PMID:24114784   PMID:24379409   PMID:25038754   PMID:25148870   PMID:25220262   PMID:25416956  
PMID:26490116   PMID:27109471   PMID:27226565   PMID:28514442   PMID:28782483   PMID:29348172   PMID:29364502   PMID:29416926   PMID:30412241   PMID:31295851   PMID:31341404   PMID:31665660  
PMID:32296183   PMID:32634127   PMID:33722977   PMID:33961781   PMID:34748117   PMID:35044719   PMID:36217029   PMID:37436094   PMID:38270169   PMID:38389126  


Genomics

Comparative Map Data
ARRDC3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38591,368,631 - 91,383,317 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl591,368,631 - 91,383,317 (-)EnsemblGRCh38hg38GRCh38
GRCh37590,664,448 - 90,679,134 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36590,700,297 - 90,714,877 (-)NCBINCBI36Build 36hg18NCBI36
Build 34590,700,297 - 90,714,877NCBI
Celera586,566,595 - 86,581,203 (-)NCBICelera
Cytogenetic Map5q14.3NCBI
HuRef585,876,398 - 85,891,271 (-)NCBIHuRef
CHM1_1590,097,255 - 90,111,863 (-)NCBICHM1_1
T2T-CHM13v2.0591,852,479 - 91,867,169 (-)NCBIT2T-CHM13v2.0
Arrdc3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391381,031,508 - 81,044,161 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1381,031,503 - 81,044,161 (+)EnsemblGRCm39 Ensembl
GRCm381380,883,384 - 80,896,042 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1380,883,384 - 80,896,042 (+)EnsemblGRCm38mm10GRCm38
MGSCv371381,022,683 - 81,035,303 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361381,347,107 - 81,359,733 (+)NCBIMGSCv36mm8
Celera1383,148,553 - 83,161,173 (+)NCBICelera
Cytogenetic Map13C2NCBI
cM Map1341.95NCBI
Arrdc3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8212,873,202 - 12,885,716 (+)NCBIGRCr8
mRatBN7.2211,137,464 - 11,149,978 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl211,137,460 - 11,149,978 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx218,258,314 - 18,268,034 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0216,357,917 - 16,367,640 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0210,989,854 - 10,999,566 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.028,732,907 - 8,745,445 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl28,732,932 - 8,743,069 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.028,617,733 - 8,630,270 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera27,507,150 - 7,516,860 (+)NCBICelera
Cytogenetic Map2q11NCBI
Arrdc3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541820,538,983 - 20,548,862 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541820,538,858 - 20,550,876 (+)NCBIChiLan1.0ChiLan1.0
ARRDC3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2424,016,183 - 24,030,776 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1522,169,817 - 22,184,396 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0523,991,325 - 24,005,913 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1524,126,407 - 24,140,858 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl524,126,427 - 24,140,858 (+)Ensemblpanpan1.1panPan2
ARRDC3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1317,691,631 - 17,705,507 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl317,691,961 - 17,703,308 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha319,060,400 - 19,074,268 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0317,596,484 - 17,610,370 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl317,596,591 - 17,610,370 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1317,567,848 - 17,581,735 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0317,537,838 - 17,551,679 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0317,822,875 - 17,836,765 (+)NCBIUU_Cfam_GSD_1.0
Arrdc3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213173,248,294 - 173,261,323 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364699,364,347 - 9,377,501 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364699,364,291 - 9,377,504 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARRDC3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl298,430,465 - 98,444,647 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1298,430,451 - 98,444,835 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22101,569,570 - 101,583,907 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ARRDC3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1485,286,243 - 85,301,208 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl485,286,173 - 85,301,202 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604934,348,931 - 34,363,917 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Arrdc3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474310,333,693 - 10,346,272 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474310,334,114 - 10,346,030 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ARRDC3
14 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1 copy number loss See cases [RCV000050945] Chr5:87376883..101524443 [GRCh38]
Chr5:86672700..100860147 [GRCh37]
Chr5:86708456..100888046 [NCBI36]
Chr5:5q14.3-21.1
pathogenic
GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 copy number gain See cases [RCV000051839] Chr5:74163186..110809453 [GRCh38]
Chr5:73459011..110145153 [GRCh37]
Chr5:73494767..110173052 [NCBI36]
Chr5:5q13.3-22.1
pathogenic
GRCh38/hg38 5q14.3-15(chr5:87124838-93383020)x3 copy number gain See cases [RCV000051840] Chr5:87124838..93383020 [GRCh38]
Chr5:86420655..92718726 [GRCh37]
Chr5:86456411..92744482 [NCBI36]
Chr5:5q14.3-15
pathogenic
GRCh38/hg38 5q14.3(chr5:86743723-92337264)x1 copy number loss See cases [RCV000053477] Chr5:86743723..92337264 [GRCh38]
Chr5:86039540..91633081 [GRCh37]
Chr5:86075296..91668837 [NCBI36]
Chr5:5q14.3
pathogenic
GRCh38/hg38 5q14.3-15(chr5:88936770-94102018)x1 copy number loss See cases [RCV000053480] Chr5:88936770..94102018 [GRCh38]
Chr5:88232587..93437723 [GRCh37]
Chr5:88268343..93463479 [NCBI36]
Chr5:5q14.3-15
pathogenic
GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1 copy number loss See cases [RCV000053516] Chr5:89081352..104687248 [GRCh38]
Chr5:88377169..104022949 [GRCh37]
Chr5:88412925..104050848 [NCBI36]
Chr5:5q14.3-21.2
pathogenic
NM_020801.4(ARRDC3):c.1022A>G (p.Glu341Gly) single nucleotide variant not provided [RCV000122565] Chr5:91374125 [GRCh38]
Chr5:90669942 [GRCh37]
Chr5:5q14.3
uncertain significance
GRCh38/hg38 5q14.3-21.1(chr5:85966055-101335711)x1 copy number loss See cases [RCV000135748] Chr5:85966055..101335711 [GRCh38]
Chr5:85261873..100671415 [GRCh37]
Chr5:85297629..100699314 [NCBI36]
Chr5:5q14.3-21.1
pathogenic
GRCh38/hg38 5q14.3-15(chr5:88197732-93193163)x3 copy number gain See cases [RCV000136732] Chr5:88197732..93193163 [GRCh38]
Chr5:87493549..92528869 [GRCh37]
Chr5:87529305..92554625 [NCBI36]
Chr5:5q14.3-15
pathogenic
GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1 copy number loss See cases [RCV000139893] Chr5:90374606..128076423 [GRCh38]
Chr5:89670423..127412115 [GRCh37]
Chr5:89706179..127440014 [NCBI36]
Chr5:5q14.3-23.3
pathogenic
GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1 copy number loss See cases [RCV000139656] Chr5:84603580..111435081 [GRCh38]
Chr5:83899398..110770779 [GRCh37]
Chr5:83935154..110798678 [NCBI36]
Chr5:5q14.3-22.1
pathogenic
GRCh38/hg38 5q14.3(chr5:86766959-92148845)x1 copy number loss See cases [RCV000141419] Chr5:86766959..92148845 [GRCh38]
Chr5:86062776..91444662 [GRCh37]
Chr5:86098532..91480418 [NCBI36]
Chr5:5q14.3
pathogenic
GRCh38/hg38 5q14.3(chr5:88368289-92363231)x1 copy number loss See cases [RCV000140963] Chr5:88368289..92363231 [GRCh38]
Chr5:87664106..91698938 [GRCh37]
Chr5:87699862..91724694 [NCBI36]
Chr5:5q14.3
pathogenic
NC_000005.9:g.(?_88625195)_(90796047_?)inv inversion Intellectual disability, autosomal dominant 20 [RCV002286878] Chr5:88625195..90796047 [GRCh37]
Chr5:5q14.3
pathogenic
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q14.3-15(chr5:87399001-92675748)x3 copy number gain not provided [RCV000682576] Chr5:87399001..92675748 [GRCh37]
Chr5:5q14.3-15
likely pathogenic
GRCh37/hg19 5q14.3-15(chr5:90664386-93537229)x3 copy number gain not provided [RCV000682579] Chr5:90664386..93537229 [GRCh37]
Chr5:5q14.3-15
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q14.3-15(chr5:87512314-95096562)x1 copy number loss not provided [RCV000744913] Chr5:87512314..95096562 [GRCh37]
Chr5:5q14.3-15
pathogenic
GRCh37/hg19 5q14.3(chr5:90209824-90753517)x3 copy number gain not provided [RCV000744931] Chr5:90209824..90753517 [GRCh37]
Chr5:5q14.3
benign
NM_020801.4(ARRDC3):c.837C>T (p.Asp279=) single nucleotide variant not provided [RCV000923015] Chr5:91374955 [GRCh38]
Chr5:90670772 [GRCh37]
Chr5:5q14.3
likely benign
NC_000005.10:g.(?_90965415)_(91383092_?)del deletion not provided [RCV001031359] Chr5:90261232..90678909 [GRCh37]
Chr5:5q14.3
likely pathogenic
NM_020801.4(ARRDC3):c.453A>G (p.Lys151=) single nucleotide variant not provided [RCV000946863] Chr5:91376678 [GRCh38]
Chr5:90672495 [GRCh37]
Chr5:5q14.3
benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3 copy number gain not provided [RCV000849289] Chr5:89949118..129317455 [GRCh37]
Chr5:5q14.3-23.3
pathogenic
NM_020801.4(ARRDC3):c.433C>T (p.Pro145Ser) single nucleotide variant not specified [RCV004322337] Chr5:91376698 [GRCh38]
Chr5:90672515 [GRCh37]
Chr5:5q14.3
uncertain significance
GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3 copy number gain not provided [RCV001005683] Chr5:72790061..97478870 [GRCh37]
Chr5:5q13.2-15
pathogenic
GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3 copy number gain See cases [RCV001007415] Chr5:87792844..109221844 [GRCh37]
Chr5:5q14.3-21.3
likely pathogenic
GRCh37/hg19 5q14.3(chr5:90218695-91499978)x3 copy number gain not provided [RCV001259337] Chr5:90218695..91499978 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_020801.4(ARRDC3):c.70T>C (p.Tyr24His) single nucleotide variant not specified [RCV004102931] Chr5:91383023 [GRCh38]
Chr5:90678840 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_020801.4(ARRDC3):c.679G>A (p.Ala227Thr) single nucleotide variant not specified [RCV004148998] Chr5:91375113 [GRCh38]
Chr5:90670930 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_020801.4(ARRDC3):c.404G>A (p.Arg135His) single nucleotide variant not specified [RCV004183492] Chr5:91376727 [GRCh38]
Chr5:90672544 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_020801.4(ARRDC3):c.1189A>G (p.Ile397Val) single nucleotide variant not specified [RCV004236499] Chr5:91371456 [GRCh38]
Chr5:90667273 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_020801.4(ARRDC3):c.1241G>A (p.Arg414His) single nucleotide variant not specified [RCV004222680] Chr5:91371404 [GRCh38]
Chr5:90667221 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_020801.4(ARRDC3):c.311C>T (p.Thr104Ile) single nucleotide variant not specified [RCV004222646] Chr5:91378745 [GRCh38]
Chr5:90674562 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_020801.4(ARRDC3):c.737T>C (p.Leu246Pro) single nucleotide variant not specified [RCV004092262] Chr5:91375055 [GRCh38]
Chr5:90670872 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_020801.4(ARRDC3):c.1201C>G (p.Pro401Ala) single nucleotide variant not specified [RCV004271011] Chr5:91371444 [GRCh38]
Chr5:90667261 [GRCh37]
Chr5:5q14.3
uncertain significance
GRCh38/hg38 5q14.3-15(chr5:88189536-93784597)x1 copy number loss Intellectual disability, autosomal dominant 20 [RCV003327617] Chr5:88189536..93784597 [GRCh38]
Chr5:5q14.3-15
pathogenic
NM_020801.4(ARRDC3):c.560C>T (p.Thr187Ile) single nucleotide variant not specified [RCV004357002] Chr5:91375564 [GRCh38]
Chr5:90671381 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_020801.4(ARRDC3):c.1037C>T (p.Pro346Leu) single nucleotide variant not specified [RCV004418203] Chr5:91373835 [GRCh38]
Chr5:90669652 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_020801.4(ARRDC3):c.608C>A (p.Thr203Asn) single nucleotide variant not specified [RCV004418204] Chr5:91375516 [GRCh38]
Chr5:90671333 [GRCh37]
Chr5:5q14.3
uncertain significance
GRCh37/hg19 5q14.3-21.2(chr5:89923199-104256041)x3 copy number gain See cases [RCV004442826] Chr5:89923199..104256041 [GRCh37]
Chr5:5q14.3-21.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1475
Count of miRNA genes:771
Interacting mature miRNAs:903
Transcripts:ENST00000265138, ENST00000503192, ENST00000505631, ENST00000507075, ENST00000508948, ENST00000511391, ENST00000514284
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.

Markers in Region
D5S1593E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37590,665,092 - 90,665,254UniSTSGRCh37
Build 36590,700,848 - 90,701,010RGDNCBI36
Celera586,567,146 - 86,567,308RGD
Cytogenetic Map5q14.3UniSTS
HuRef585,876,949 - 85,877,111UniSTS
Bdy70c06  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37590,665,418 - 90,665,499UniSTSGRCh37
Build 36590,701,174 - 90,701,255RGDNCBI36
Celera586,567,472 - 86,567,553RGD
Cytogenetic Map5q14.3UniSTS
HuRef585,877,275 - 85,877,356UniSTS
GeneMap99-GB4 RH Map5404.77UniSTS
NCBI RH Map5567.6UniSTS
STS-R33609  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37590,664,630 - 90,664,753UniSTSGRCh37
Build 36590,700,386 - 90,700,509RGDNCBI36
Celera586,566,684 - 86,566,807RGD
Cytogenetic Map5q14.3UniSTS
HuRef585,876,487 - 85,876,610UniSTS
GeneMap99-GB4 RH Map5404.77UniSTS


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 3
Medium 2263 2272 1675 577 1615 419 4130 1630 2417 396 1427 1596 171 1188 2627 4
Low 171 711 50 45 332 45 226 563 1294 21 20 13 1 1 16 161
Below cutoff 3 4 1 1 2 19 1 8 3 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_138071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_138072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB037797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX642781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS300561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA110572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY355442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000265138   ⟹   ENSP00000265138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl591,368,631 - 91,383,317 (-)Ensembl
RefSeq Acc Id: ENST00000503192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl591,375,527 - 91,380,151 (-)Ensembl
RefSeq Acc Id: ENST00000505631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl591,374,225 - 91,375,344 (-)Ensembl
RefSeq Acc Id: ENST00000507075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl591,376,559 - 91,382,875 (-)Ensembl
RefSeq Acc Id: ENST00000508948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl591,375,521 - 91,381,020 (-)Ensembl
RefSeq Acc Id: ENST00000511391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl591,370,798 - 91,373,845 (-)Ensembl
RefSeq Acc Id: ENST00000514284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl591,375,000 - 91,380,089 (-)Ensembl
RefSeq Acc Id: NM_001329670   ⟹   NP_001316599
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38591,368,631 - 91,380,097 (-)NCBI
T2T-CHM13v2.0591,852,479 - 91,863,949 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001329671   ⟹   NP_001316600
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38591,368,631 - 91,380,097 (-)NCBI
T2T-CHM13v2.0591,852,479 - 91,863,949 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001329672   ⟹   NP_001316601
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38591,368,631 - 91,383,317 (-)NCBI
T2T-CHM13v2.0591,852,479 - 91,867,169 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020801   ⟹   NP_065852
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38591,368,631 - 91,383,317 (-)NCBI
GRCh37590,664,541 - 90,679,149 (-)RGD
Build 36590,700,297 - 90,714,877 (-)NCBI Archive
Celera586,566,595 - 86,581,203 (-)RGD
HuRef585,876,398 - 85,891,271 (-)RGD
CHM1_1590,097,255 - 90,111,863 (-)NCBI
T2T-CHM13v2.0591,852,479 - 91,867,169 (-)NCBI
Sequence:
RefSeq Acc Id: NR_138071
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38591,368,631 - 91,380,097 (-)NCBI
T2T-CHM13v2.0591,852,479 - 91,863,949 (-)NCBI
Sequence:
RefSeq Acc Id: NR_138072
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38591,368,631 - 91,383,317 (-)NCBI
T2T-CHM13v2.0591,852,479 - 91,867,169 (-)NCBI
Sequence:
RefSeq Acc Id: NP_065852   ⟸   NM_020801
- Peptide Label: isoform a
- UniProtKB: A8K6T8 (UniProtKB/Swiss-Prot),   Q9P2H1 (UniProtKB/Swiss-Prot),   Q96B67 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001316601   ⟸   NM_001329672
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: NP_001316600   ⟸   NM_001329671
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: NP_001316599   ⟸   NM_001329670
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: ENSP00000265138   ⟸   ENST00000265138

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96B67-F1-model_v2 AlphaFold Q96B67 1-414 view protein structure

Promoters
RGD ID:6802872
Promoter ID:HG_KWN:50655
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,   NB4
Transcripts:UC003KJZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36590,714,659 - 90,715,159 (-)MPROMDB
RGD ID:6870082
Promoter ID:EPDNEW_H8206
Type:initiation region
Name:ARRDC3_1
Description:arrestin domain containing 3
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
GRCh38591,383,317 - 91,383,377EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29263 AgrOrtholog
COSMIC ARRDC3 COSMIC
Ensembl Genes ENSG00000113369 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000265138 ENTREZGENE
  ENST00000265138.4 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.640 UniProtKB/Swiss-Prot
GTEx ENSG00000113369 GTEx
HGNC ID HGNC:29263 ENTREZGENE
Human Proteome Map ARRDC3 Human Proteome Map
InterPro Arrestin-like_N UniProtKB/Swiss-Prot
  Arrestin_C UniProtKB/Swiss-Prot
  Arrestin_C-like UniProtKB/Swiss-Prot
  Ig_E-set UniProtKB/Swiss-Prot
KEGG Report hsa:57561 UniProtKB/Swiss-Prot
NCBI Gene 57561 ENTREZGENE
OMIM 612464 OMIM
PANTHER ARRESTIN DOMAIN CONTAINING PROTEIN UniProtKB/Swiss-Prot
  ARRESTIN DOMAIN-CONTAINING PROTEIN 3 UniProtKB/Swiss-Prot
Pfam Arrestin_C UniProtKB/Swiss-Prot
  Arrestin_N UniProtKB/Swiss-Prot
PharmGKB PA134925765 PharmGKB
SMART Arrestin_C UniProtKB/Swiss-Prot
Superfamily-SCOP SSF81296 UniProtKB/Swiss-Prot
UniProt A8K6T8 ENTREZGENE
  ARRD3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9P2H1 ENTREZGENE
UniProt Secondary A8K6T8 UniProtKB/Swiss-Prot
  Q9P2H1 UniProtKB/Swiss-Prot