ABCC5 (ATP binding cassette subfamily C member 5) - Rat Genome Database

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Gene: ABCC5 (ATP binding cassette subfamily C member 5) Homo sapiens
Analyze
Symbol: ABCC5
Name: ATP binding cassette subfamily C member 5
RGD ID: 734363
HGNC Page HGNC
Description: Exhibits anion transmembrane transporter activity; efflux transmembrane transporter activity; and xenobiotic transmembrane transporter activity. Involved in export across plasma membrane; organic substance transport; and xenobiotic transport. Localizes to apical plasma membrane and basolateral plasma membrane. Biomarker of pancreatic cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ABC33; ATP-binding cassette sub-family C member 5; ATP-binding cassette, sub-family C (CFTR/MRP), member 5; atp-binding cassette, sub-family c (cftr/mrp), member 5a; canalicular multispecific organic anion transporter C; DKFZp686C1782; EST277145; MOAT-C; MOATC; MRP5; multi-specific organic anion transporter C; multidrug resistance-associated protein 5; pABC11; SMRP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3183,919,934 - 184,017,939 (-)EnsemblGRCh38hg38GRCh38
GRCh383183,919,934 - 184,018,010 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh373183,637,722 - 183,735,672 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363185,120,416 - 185,218,421 (-)NCBINCBI36hg18NCBI36
Build 343185,120,427 - 185,218,377NCBI
Celera3182,081,049 - 182,178,505 (-)NCBI
Cytogenetic Map3q27.1NCBI
HuRef3181,047,368 - 181,143,321 (-)NCBIHuRef
CHM1_13183,602,021 - 183,699,879 (-)NCBICHM1_1
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
(+)-pilocarpine  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
(S)-naringenin  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2',7'-bis-(2-carboxyethyl)carboxyfluorescein  (EXP)
2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)propanoic acid  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-methylcholine  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5(6)-carboxy-2',7'-dichlorofluorescein  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
5-fluorouridine  (EXP)
5-Nitro-2-(3-phenylpropylamino)benzoic acid  (EXP)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
afimoxifene  (EXP)
allyl alcohol  (ISO)
ammonium chloride  (ISO)
arsenous acid  (EXP,ISO)
benzbromarone  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
beta-naphthoflavone  (ISO)
bisphenol A  (EXP,ISO)
butylated hydroxyanisole  (ISO)
captan  (ISO)
casticin  (ISO)
celecoxib  (EXP)
choline  (ISO)
chromium(6+)  (EXP)
chrysene  (ISO)
chrysin  (EXP)
cisplatin  (EXP)
clofibric acid  (ISO)
cocaine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
coumestrol  (EXP)
crotonaldehyde  (EXP)
curcumin  (EXP)
cycloheximide  (EXP)
daidzein  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP,ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dioxygen  (EXP)
diuron  (ISO)
divanadium pentaoxide  (ISO)
doxorubicin  (EXP)
dUMP  (EXP)
Enterolactone  (EXP)
ethanol  (ISO)
ethoxyquin  (ISO)
ethyl methanesulfonate  (EXP)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
formaldehyde  (EXP)
fulvestrant  (EXP,ISO)
furan  (ISO)
genistein  (EXP,ISO)
glutathione  (EXP)
hesperetin  (EXP)
hexadecanoic acid  (EXP)
hyaluronic acid  (EXP)
hydrogen peroxide  (EXP)
Indeno[1,2,3-cd]pyrene  (EXP)
indometacin  (EXP)
L-methionine  (ISO)
lithocholic acid  (ISO)
LY294002  (EXP)
metformin  (ISO)
methapyrilene  (EXP)
methotrexate  (EXP,ISO)
microcystin-LR  (ISO)
MK 571  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
oltipraz  (ISO)
oxaliplatin  (EXP)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
pemetrexed  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
picene  (EXP)
potassium chromate  (EXP)
probenecid  (EXP)
quercetin  (EXP)
resveratrol  (EXP,ISO)
rifampicin  (EXP)
sodium dichromate  (ISO)
soybean oil  (ISO)
streptozocin  (ISO)
sunitinib  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thioacetamide  (ISO)
tioguanine  (EXP)
titanium dioxide  (ISO)
tremolite asbestos  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vincristine  (EXP)
xanthohumol  (EXP)
zearalenone  (ISO)
zidovudine  (EXP)
zoledronic acid  (EXP)

References

Additional References at PubMed
PMID:8894702   PMID:9270026   PMID:9325169   PMID:9827529   PMID:10340910   PMID:10438534   PMID:10721709   PMID:10728601   PMID:10737800   PMID:10840050   PMID:10893247   PMID:12388627  
PMID:12477932   PMID:12637526   PMID:12646196   PMID:12695538   PMID:14507663   PMID:14702039   PMID:15146197   PMID:15297306   PMID:15631998   PMID:15861033   PMID:16156793   PMID:17521428  
PMID:17540771   PMID:17803828   PMID:18619525   PMID:18690847   PMID:19077464   PMID:19343046   PMID:19898482   PMID:19903828   PMID:19913121   PMID:19940267   PMID:19956884   PMID:20597995  
PMID:20628086   PMID:20922799   PMID:21449672   PMID:21873635   PMID:21988832   PMID:22272278   PMID:22278731   PMID:22658674   PMID:22843873   PMID:23174366   PMID:23271324   PMID:24603532  
PMID:25017019   PMID:25028266   PMID:25117150   PMID:25564970   PMID:25829401   PMID:25964343   PMID:26345518   PMID:26353179   PMID:26496610   PMID:26515061   PMID:26546432   PMID:26590417  
PMID:26638075   PMID:26799285   PMID:26975227   PMID:28112518   PMID:28277541   PMID:28514442   PMID:28813580   PMID:30021884   PMID:30194290   PMID:30280653   PMID:30639242   PMID:31791063  
PMID:32828758  


Genomics

Comparative Map Data
ABCC5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3183,919,934 - 184,017,939 (-)EnsemblGRCh38hg38GRCh38
GRCh383183,919,934 - 184,018,010 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh373183,637,722 - 183,735,672 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363185,120,416 - 185,218,421 (-)NCBINCBI36hg18NCBI36
Build 343185,120,427 - 185,218,377NCBI
Celera3182,081,049 - 182,178,505 (-)NCBI
Cytogenetic Map3q27.1NCBI
HuRef3181,047,368 - 181,143,321 (-)NCBIHuRef
CHM1_13183,602,021 - 183,699,879 (-)NCBICHM1_1
Abcc5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391620,150,053 - 20,245,178 (-)NCBIGRCm39mm39
GRCm39 Ensembl1620,150,053 - 20,245,144 (-)Ensembl
GRCm381620,331,303 - 20,426,428 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1620,331,303 - 20,426,394 (-)EnsemblGRCm38mm10GRCm38
MGSCv371620,331,376 - 20,426,467 (-)NCBIGRCm37mm9NCBIm37
MGSCv361620,244,846 - 20,339,937 (-)NCBImm8
Celera1620,894,801 - 20,990,015 (-)NCBICelera
Cytogenetic Map16A3NCBI
cM Map1612.41NCBI
Abcc5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21180,473,809 - 80,567,257 (+)NCBI
Rnor_6.0 Ensembl1184,396,033 - 84,490,211 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01184,395,982 - 84,490,215 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01187,460,314 - 87,554,521 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41182,714,334 - 82,809,354 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11182,771,922 - 82,866,943 (+)NCBI
Celera1179,313,876 - 79,407,221 (+)NCBICelera
Cytogenetic Map11q23NCBI
Abcc5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542023,447,920 - 23,522,732 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542023,447,920 - 23,522,732 (+)NCBIChiLan1.0ChiLan1.0
ABCC5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13189,122,590 - 189,219,492 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3189,122,590 - 189,219,492 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03180,956,139 - 181,054,112 (-)NCBIMhudiblu_PPA_v0panPan3
ABCC5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13416,856,624 - 16,947,844 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3416,856,633 - 16,946,422 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3420,943,958 - 21,030,248 (-)NCBI
ROS_Cfam_1.03416,763,912 - 16,854,022 (-)NCBI
UMICH_Zoey_3.13416,802,194 - 16,888,327 (-)NCBI
UNSW_CanFamBas_1.03416,797,769 - 16,884,117 (-)NCBI
UU_Cfam_GSD_1.03417,027,936 - 17,114,432 (-)NCBI
Abcc5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602119,746,167 - 119,824,457 (+)NCBI
SpeTri2.0NW_0049365785,838,044 - 5,916,287 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABCC5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13121,868,614 - 122,060,360 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113121,868,614 - 121,957,901 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213131,309,020 - 131,358,973 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ABCC5
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1155,409,921 - 5,505,334 (+)NCBI
ChlSab1.1 Ensembl155,409,861 - 5,505,315 (+)Ensembl
Abcc5
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473072,529,299 - 72,621,108 (+)NCBI

Position Markers
RH46232  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,718,586 - 183,718,707UniSTSGRCh37
Build 363185,201,280 - 185,201,401RGDNCBI36
Celera3182,161,370 - 182,161,491RGD
Cytogenetic Map3q27UniSTS
HuRef3181,126,359 - 181,126,480UniSTS
GeneMap99-GB4 RH Map3689.21UniSTS
NCBI RH Map31849.9UniSTS
SGC33898  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,684,832 - 183,684,958UniSTSGRCh37
Build 363185,167,526 - 185,167,652RGDNCBI36
Celera3182,127,616 - 182,127,742RGD
Cytogenetic Map3q27UniSTS
HuRef3181,092,615 - 181,092,741UniSTS
GeneMap99-GB4 RH Map3694.01UniSTS
Whitehead-RH Map3844.0UniSTS
RH80629  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,650,190 - 183,650,358UniSTSGRCh37
Build 363185,132,884 - 185,133,052RGDNCBI36
Celera3182,093,484 - 182,093,652RGD
Cytogenetic Map3q27UniSTS
HuRef3181,059,734 - 181,059,902UniSTS
GeneMap99-GB4 RH Map3687.38UniSTS
G62024  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,637,765 - 183,637,927UniSTSGRCh37
Build 363185,120,459 - 185,120,621RGDNCBI36
Celera3182,081,092 - 182,081,254RGD
Cytogenetic Map3q27UniSTS
HuRef3181,047,411 - 181,047,573UniSTS
D3S1324E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,638,334 - 183,638,412UniSTSGRCh37
GRCh373183,638,253 - 183,638,364UniSTSGRCh37
Build 363185,121,028 - 185,121,106RGDNCBI36
Celera3182,081,661 - 182,081,739RGD
Celera3182,081,580 - 182,081,691UniSTS
Cytogenetic Map3q27UniSTS
HuRef3181,047,931 - 181,048,009UniSTS
STS-T83859  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,638,687 - 183,638,864UniSTSGRCh37
Build 363185,121,381 - 185,121,558RGDNCBI36
Celera3182,082,014 - 182,082,191RGD
Cytogenetic Map3q27UniSTS
HuRef3181,048,284 - 181,048,461UniSTS
GeneMap99-GB4 RH Map3688.41UniSTS
D3S4341  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,720,337 - 183,720,553UniSTSGRCh37
Build 363185,203,031 - 185,203,247RGDNCBI36
Celera3182,163,121 - 182,163,337RGD
HuRef3181,128,110 - 181,128,326UniSTS
D3S4345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,722,757 - 183,722,899UniSTSGRCh37
Build 363185,205,451 - 185,205,593RGDNCBI36
Celera3182,165,541 - 182,165,683RGD
HuRef3181,130,531 - 181,130,673UniSTS
D3S4424  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,733,514 - 183,733,713UniSTSGRCh37
Build 363185,216,208 - 185,216,407RGDNCBI36
Celera3182,176,292 - 182,176,491RGD
HuRef3181,141,108 - 181,141,307UniSTS
RH47340  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,701,605 - 183,701,729UniSTSGRCh37
Build 363185,184,299 - 185,184,423RGDNCBI36
Celera3182,144,387 - 182,144,511RGD
Cytogenetic Map3q27UniSTS
HuRef3181,109,378 - 181,109,502UniSTS
GeneMap99-GB4 RH Map3687.8UniSTS
RH71180  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,685,033 - 183,685,209UniSTSGRCh37
Build 363185,167,727 - 185,167,903RGDNCBI36
Celera3182,127,817 - 182,127,993RGD
Cytogenetic Map3q27UniSTS
HuRef3181,092,816 - 181,092,992UniSTS
GeneMap99-GB4 RH Map3687.8UniSTS
SHGC-64857  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,718,476 - 183,718,605UniSTSGRCh37
Build 363185,201,170 - 185,201,299RGDNCBI36
Celera3182,161,260 - 182,161,389RGD
Cytogenetic Map3q27UniSTS
HuRef3181,126,249 - 181,126,378UniSTS
TNG Radiation Hybrid Map3102673.0UniSTS
SHGC-77595  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,638,350 - 183,638,450UniSTSGRCh37
Build 363185,121,044 - 185,121,144RGDNCBI36
Celera3182,081,677 - 182,081,777RGD
Cytogenetic Map3q27UniSTS
HuRef3181,047,947 - 181,048,047UniSTS
TNG Radiation Hybrid Map3102311.0UniSTS
GeneMap99-GB4 RH Map3689.63UniSTS
STS-N68159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,637,748 - 183,637,952UniSTSGRCh37
Build 363185,120,442 - 185,120,646RGDNCBI36
Celera3182,081,075 - 182,081,279RGD
Cytogenetic Map3q27UniSTS
HuRef3181,047,394 - 181,047,598UniSTS
GeneMap99-GB4 RH Map3685.07UniSTS
D3S4256  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,668,458 - 183,668,597UniSTSGRCh37
Build 363185,151,152 - 185,151,291RGDNCBI36
Celera3182,112,198 - 182,112,337RGD
Cytogenetic Map3q27UniSTS
HuRef3181,077,997 - 181,078,136UniSTS
RH70792  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,650,305 - 183,650,426UniSTSGRCh37
Build 363185,132,999 - 185,133,120RGDNCBI36
Celera3182,093,599 - 182,093,720RGD
Cytogenetic Map3q27UniSTS
HuRef3181,059,849 - 181,059,970UniSTS
GeneMap99-GB4 RH Map3687.38UniSTS
ABCC5_681  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,637,706 - 183,638,413UniSTSGRCh37
Build 363185,120,400 - 185,121,107RGDNCBI36
Celera3182,081,033 - 182,081,740RGD
HuRef3181,047,352 - 181,048,010UniSTS
SHGC-34525  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q27UniSTS
HuRef3181,109,316 - 181,109,468UniSTS
GeneMap99-GB4 RH Map3686.63UniSTS
Whitehead-RH Map3842.7UniSTS
GeneMap99-G3 RH Map38933.0UniSTS
ABCC5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,638,698 - 183,638,915UniSTSGRCh37
Celera3182,082,025 - 182,082,242UniSTS
HuRef3181,048,295 - 181,048,512UniSTS
CH241-100C11_T7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373183,701,586 - 183,702,241UniSTSGRCh37
Celera3182,144,368 - 182,145,023UniSTS
HuRef3181,109,359 - 181,110,014UniSTS
D3S1324E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q27UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:8587
Count of miRNA genes:1480
Interacting mature miRNAs:2019
Transcripts:ENST00000265586, ENST00000334444, ENST00000382494, ENST00000392579, ENST00000427120, ENST00000437205, ENST00000437341, ENST00000438979, ENST00000443376, ENST00000443497, ENST00000446941, ENST00000476402, ENST00000492216
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 2095 1711 1091 176 665 68 3099 1936 3000 269 1336 1206 124 1 704 2137 4 1
Low 344 1271 631 445 1276 394 1257 260 734 150 124 406 51 500 651 2 1
Below cutoff 9 4 3 8 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001023587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB005659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB019002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF104942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF146074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL524917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW207515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY196484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY754874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY754875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY754876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE085682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX105640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX649032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN410200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN429416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY073434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U66687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U83661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265586   ⟹   ENSP00000265586
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3183,919,938 - 184,017,939 (-)Ensembl
RefSeq Acc Id: ENST00000334444   ⟹   ENSP00000333926
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3183,919,934 - 184,017,884 (-)Ensembl
RefSeq Acc Id: ENST00000382494   ⟹   ENSP00000371934
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3183,983,753 - 184,017,889 (-)Ensembl
RefSeq Acc Id: ENST00000392579   ⟹   ENSP00000376358
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3183,983,753 - 184,017,889 (-)Ensembl
RefSeq Acc Id: ENST00000427120   ⟹   ENSP00000404809
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3183,983,753 - 184,017,863 (-)Ensembl
RefSeq Acc Id: ENST00000437205   ⟹   ENSP00000403510
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3183,919,939 - 184,017,836 (-)Ensembl
RefSeq Acc Id: ENST00000437341   ⟹   ENSP00000399726
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3183,988,573 - 184,017,444 (-)Ensembl
RefSeq Acc Id: ENST00000438979   ⟹   ENSP00000409913
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3183,987,771 - 184,017,916 (-)Ensembl
RefSeq Acc Id: ENST00000443376   ⟹   ENSP00000416840
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3183,983,753 - 184,017,889 (-)Ensembl
RefSeq Acc Id: ENST00000443497   ⟹   ENSP00000404302
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3183,925,660 - 183,942,780 (-)Ensembl
RefSeq Acc Id: ENST00000446941   ⟹   ENSP00000390911
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,000,663 - 184,017,939 (-)Ensembl
RefSeq Acc Id: ENST00000476402
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3183,967,304 - 183,971,831 (-)Ensembl
RefSeq Acc Id: ENST00000492216
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3183,977,518 - 183,983,576 (-)Ensembl
RefSeq Acc Id: NM_001023587   ⟹   NP_001018881
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,983,753 - 184,017,884 (-)NCBI
GRCh373183,637,722 - 183,735,803 (-)NCBI
Build 363185,184,235 - 185,218,421 (-)NCBI Archive
HuRef3181,047,368 - 181,143,321 (-)ENTREZGENE
CHM1_13183,665,675 - 183,699,879 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320032   ⟹   NP_001306961
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,919,934 - 184,017,884 (-)NCBI
CHM1_13183,602,021 - 183,699,879 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005688   ⟹   NP_005679
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,919,934 - 184,017,884 (-)NCBI
GRCh373183,637,722 - 183,735,803 (-)NCBI
Build 363185,120,416 - 185,218,421 (-)NCBI Archive
HuRef3181,047,368 - 181,143,321 (-)ENTREZGENE
CHM1_13183,602,021 - 183,699,879 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135125
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,983,753 - 184,017,884 (-)NCBI
CHM1_13183,665,675 - 183,699,879 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005247058   ⟹   XP_005247115
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,919,939 - 184,017,257 (-)NCBI
GRCh373183,637,722 - 183,735,803 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005247059   ⟹   XP_005247116
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,919,939 - 184,017,471 (-)NCBI
GRCh373183,637,722 - 183,735,803 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512314   ⟹   XP_011510616
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,919,939 - 184,017,332 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512315   ⟹   XP_011510617
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,927,450 - 184,018,010 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005492   ⟹   XP_016860981
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,919,939 - 183,985,853 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005493   ⟹   XP_016860982
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,983,753 - 184,018,010 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005494   ⟹   XP_016860983
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,983,753 - 184,017,458 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453286   ⟹   XP_024309054
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,919,939 - 183,987,077 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001018881 (Get FASTA)   NCBI Sequence Viewer  
  NP_001306961 (Get FASTA)   NCBI Sequence Viewer  
  NP_005679 (Get FASTA)   NCBI Sequence Viewer  
  XP_005247115 (Get FASTA)   NCBI Sequence Viewer  
  XP_005247116 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510616 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510617 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860981 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860982 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860983 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309054 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB71758 (Get FASTA)   NCBI Sequence Viewer  
  AAD04169 (Get FASTA)   NCBI Sequence Viewer  
  AAD37716 (Get FASTA)   NCBI Sequence Viewer  
  AAH15334 (Get FASTA)   NCBI Sequence Viewer  
  AAH50744 (Get FASTA)   NCBI Sequence Viewer  
  AAI40772 (Get FASTA)   NCBI Sequence Viewer  
  AAI42671 (Get FASTA)   NCBI Sequence Viewer  
  AAI42720 (Get FASTA)   NCBI Sequence Viewer  
  AAO49801 (Get FASTA)   NCBI Sequence Viewer  
  AAW82948 (Get FASTA)   NCBI Sequence Viewer  
  AAW82949 (Get FASTA)   NCBI Sequence Viewer  
  AAW82950 (Get FASTA)   NCBI Sequence Viewer  
  BAA22887 (Get FASTA)   NCBI Sequence Viewer  
  BAA76608 (Get FASTA)   NCBI Sequence Viewer  
  BAD92340 (Get FASTA)   NCBI Sequence Viewer  
  BAD92691 (Get FASTA)   NCBI Sequence Viewer  
  EAW78306 (Get FASTA)   NCBI Sequence Viewer  
  EAW78307 (Get FASTA)   NCBI Sequence Viewer  
  EAW78308 (Get FASTA)   NCBI Sequence Viewer  
  EAW78309 (Get FASTA)   NCBI Sequence Viewer  
  EAW78310 (Get FASTA)   NCBI Sequence Viewer  
  O15440 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_005679   ⟸   NM_005688
- Peptide Label: isoform 1
- UniProtKB: O15440 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001018881   ⟸   NM_001023587
- Peptide Label: isoform 2
- UniProtKB: O15440 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005247116   ⟸   XM_005247059
- Peptide Label: isoform X1
- UniProtKB: O15440 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005247115   ⟸   XM_005247058
- Peptide Label: isoform X1
- UniProtKB: O15440 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011510616   ⟸   XM_011512314
- Peptide Label: isoform X1
- UniProtKB: O15440 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011510617   ⟸   XM_011512315
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001306961   ⟸   NM_001320032
- Peptide Label: isoform 3
- UniProtKB: O15440 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016860981   ⟸   XM_017005492
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016860982   ⟸   XM_017005493
- Peptide Label: isoform X4
- UniProtKB: O15440 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016860983   ⟸   XM_017005494
- Peptide Label: isoform X4
- UniProtKB: O15440 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024309054   ⟸   XM_024453286
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000409913   ⟸   ENST00000438979
RefSeq Acc Id: ENSP00000333926   ⟸   ENST00000334444
RefSeq Acc Id: ENSP00000404809   ⟸   ENST00000427120
RefSeq Acc Id: ENSP00000416840   ⟸   ENST00000443376
RefSeq Acc Id: ENSP00000404302   ⟸   ENST00000443497
RefSeq Acc Id: ENSP00000376358   ⟸   ENST00000392579
RefSeq Acc Id: ENSP00000390911   ⟸   ENST00000446941
RefSeq Acc Id: ENSP00000371934   ⟸   ENST00000382494
RefSeq Acc Id: ENSP00000265586   ⟸   ENST00000265586
RefSeq Acc Id: ENSP00000403510   ⟸   ENST00000437205
RefSeq Acc Id: ENSP00000399726   ⟸   ENST00000437341
Promoters
RGD ID:6866418
Promoter ID:EPDNEW_H6374
Type:initiation region
Name:ABCC5_1
Description:ATP binding cassette subfamily C member 5
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
GRCh383184,017,884 - 184,017,944EPDNEW
RGD ID:6800519
Promoter ID:HG_KWN:46921
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:ENST00000265586,   ENST00000382495,   ENST00000392577,   ENST00000392578,   NM_001023587,   OTTHUMT00000346350,   OTTHUMT00000346351,   OTTHUMT00000346353,   OTTHUMT00000346356,   OTTHUMT00000346358,   OTTHUMT00000346359,   UC010HXM.1,   UC010HXO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363185,218,136 - 185,218,697 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q26.33-28(chr3:182678453-188418928)x1 copy number loss See cases [RCV000051607] Chr3:182678453..188418928 [GRCh38]
Chr3:182396241..188136716 [GRCh37]
Chr3:183878935..189619410 [NCBI36]
Chr3:3q26.33-28
pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 copy number gain See cases [RCV000051736] Chr3:178411707..198110319 [GRCh38]
Chr3:178129495..197837190 [GRCh37]
Chr3:179612189..199321587 [NCBI36]
Chr3:3q26.32-29
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
NM_005688.4(ABCC5):c.1925A>G (p.Asn642Ser) single nucleotide variant not provided [RCV000122524] Chr3:183965410 [GRCh38]
Chr3:183683198 [GRCh37]
Chr3:3q27.1
uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q27.1(chr3:183747088-184238311)x3 copy number gain See cases [RCV000135560] Chr3:183747088..184238311 [GRCh38]
Chr3:183464876..183956099 [GRCh37]
Chr3:184947570..185438793 [NCBI36]
Chr3:3q27.1
likely benign|uncertain significance
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29
pathogenic
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29
pathogenic|likely benign
GRCh38/hg38 3q27.1(chr3:183816693-184365094)x3 copy number gain See cases [RCV000137910] Chr3:183816693..184365094 [GRCh38]
Chr3:183534481..184082882 [GRCh37]
Chr3:185017175..185565576 [NCBI36]
Chr3:3q27.1
uncertain significance
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29
pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29
pathogenic
GRCh38/hg38 3q27.1-27.2(chr3:184010704-186288926)x1 copy number loss See cases [RCV000139917] Chr3:184010704..186288926 [GRCh38]
Chr3:183728492..186006715 [GRCh37]
Chr3:185211186..187489409 [NCBI36]
Chr3:3q27.1-27.2
likely pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1 copy number loss See cases [RCV000142154] Chr3:182319764..186443121 [GRCh38]
Chr3:182037552..186160910 [GRCh37]
Chr3:183520246..187643604 [NCBI36]
Chr3:3q26.33-27.3
likely pathogenic
GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3 copy number gain See cases [RCV000142107] Chr3:167717962..188365272 [GRCh38]
Chr3:167435750..188083060 [GRCh37]
Chr3:168918444..189565754 [NCBI36]
Chr3:3q26.1-28
likely pathogenic
GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1 copy number loss See cases [RCV000142019] Chr3:181138664..192512023 [GRCh38]
Chr3:180856452..192229812 [GRCh37]
Chr3:182339146..193712506 [NCBI36]
Chr3:3q26.33-28
pathogenic
GRCh38/hg38 3q27.1(chr3:183521497-184472038)x1 copy number loss See cases [RCV000143297] Chr3:183521497..184472038 [GRCh38]
Chr3:183239285..184189826 [GRCh37]
Chr3:184721979..185672520 [NCBI36]
Chr3:3q27.1
likely pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29
pathogenic
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29
pathogenic
GRCh37/hg19 3q26.33-29(chr3:181911498-197851986)x4 copy number gain See cases [RCV000446732] Chr3:181911498..197851986 [GRCh37]
Chr3:3q26.33-29
pathogenic
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29
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
Single allele duplication Currarino triad [RCV000417195] Chr3:177772523..185716872 [GRCh38]
Chr3:3q26.32-27.2
likely pathogenic
GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)x1 copy number loss See cases [RCV000448937] Chr3:183178932..186838042 [GRCh37]
Chr3:3q27.1-27.3
pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29
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 3q26.33-29(chr3:182539234-197851986)x3 copy number gain not provided [RCV000682336] Chr3:182539234..197851986 [GRCh37]
Chr3:3q26.33-29
pathogenic
GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1 copy number loss not provided [RCV000682337] Chr3:182650681..191275809 [GRCh37]
Chr3:3q26.33-28
pathogenic
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 3q26.31-29(chr3:173281266-197838262)x3 copy number gain not provided [RCV000742968] Chr3:173281266..197838262 [GRCh37]
Chr3:3q26.31-29
pathogenic
NM_005688.4(ABCC5):c.3213G>A (p.Gln1071=) single nucleotide variant not provided [RCV000885149] Chr3:183949767 [GRCh38]
Chr3:183667555 [GRCh37]
Chr3:3q27.1
benign
GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3 copy number gain not provided [RCV001005487] Chr3:169617690..190593854 [GRCh37]
Chr3:3q26.2-28
pathogenic
GRCh37/hg19 3q27.1(chr3:183312708-183647820)x3 copy number gain not provided [RCV001005494] Chr3:183312708..183647820 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_005688.4(ABCC5):c.825+10G>A single nucleotide variant not provided [RCV000892853] Chr3:183982764 [GRCh38]
Chr3:183700552 [GRCh37]
Chr3:3q27.1
benign
GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1 copy number loss not provided [RCV001259730] Chr3:182877291..186830759 [GRCh37]
Chr3:3q27.1-27.3
pathogenic
GRCh37/hg19 3q26.33-27.2(chr3:181171210-184706091)x1 copy number loss Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267847] Chr3:181171210..184706091 [GRCh37]
Chr3:3q26.33-27.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:56 AgrOrtholog
COSMIC ABCC5 COSMIC
Ensembl Genes ENSG00000114770 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000265586 UniProtKB/Swiss-Prot
  ENSP00000333926 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000371934 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000376358 UniProtKB/Swiss-Prot
  ENSP00000390911 UniProtKB/TrEMBL
  ENSP00000399726 UniProtKB/TrEMBL
  ENSP00000403510 UniProtKB/TrEMBL
  ENSP00000404302 UniProtKB/TrEMBL
  ENSP00000404809 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000409913 UniProtKB/TrEMBL
  ENSP00000416840 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000265586 UniProtKB/Swiss-Prot
  ENST00000334444 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000382494 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000392579 UniProtKB/Swiss-Prot
  ENST00000427120 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000437205 UniProtKB/TrEMBL
  ENST00000437341 UniProtKB/TrEMBL
  ENST00000438979 UniProtKB/TrEMBL
  ENST00000443376 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000443497 UniProtKB/TrEMBL
  ENST00000446941 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1560.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000114770 GTEx
HGNC ID HGNC:56 ENTREZGENE
Human Proteome Map ABCC5 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot
  ABC1_TM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC1_TM_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter-like UniProtKB/Swiss-Prot
  ABC_transporter_CS UniProtKB/Swiss-Prot
  ABCC5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot
KEGG Report hsa:10057 UniProtKB/Swiss-Prot
NCBI Gene 10057 ENTREZGENE
OMIM 605251 OMIM
PANTHER PTHR24223:SF196 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ABC_membrane UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_tran UniProtKB/Swiss-Prot
PharmGKB ABCC5 RGD, PharmGKB
PROSITE ABC_TM1F UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_TRANSPORTER_1 UniProtKB/Swiss-Prot
  ABC_TRANSPORTER_2 UniProtKB/Swiss-Prot
SMART AAA UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot
  SSF90123 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A5PKY6_HUMAN UniProtKB/TrEMBL
  C9JZL5_HUMAN UniProtKB/TrEMBL
  E9PET4_HUMAN UniProtKB/TrEMBL
  F8WCY8_HUMAN UniProtKB/TrEMBL
  F8WDH3_HUMAN UniProtKB/TrEMBL
  H7C271_HUMAN UniProtKB/TrEMBL
  MRP5_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B9EIQ2 UniProtKB/Swiss-Prot
  O14517 UniProtKB/Swiss-Prot
  Q29ZA9 UniProtKB/Swiss-Prot
  Q29ZB1 UniProtKB/Swiss-Prot
  Q86UX3 UniProtKB/Swiss-Prot
  Q86W30 UniProtKB/Swiss-Prot
  Q9UN85 UniProtKB/Swiss-Prot
  Q9UNP5 UniProtKB/Swiss-Prot
  Q9UQC3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 ABCC5  ATP binding cassette subfamily C member 5  ABCC5  ATP-binding cassette, sub-family C (CFTR/MRP), member 5  Symbol and/or name change 5135510 APPROVED