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

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
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:56
Description: Enables several functions, including ABC-type xenobiotic transporter activity; glutathione transmembrane transporter activity; and heme transmembrane transporter activity. Involved in several processes, including heme transmembrane transport; organic anion transport; and xenobiotic transport. Located in apical plasma membrane and basolateral plasma membrane. Biomarker of pancreatic cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously 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
GRCh383183,919,934 - 184,017,884 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3183,919,934 - 184,017,939 (-)EnsemblGRCh38hg38GRCh38
GRCh373183,637,722 - 183,735,672 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363185,120,416 - 185,218,421 (-)NCBINCBI36Build 36hg18NCBI36
Build 343185,120,427 - 185,218,377NCBI
Celera3182,081,049 - 182,178,505 (-)NCBICelera
Cytogenetic Map3q27.1NCBI
HuRef3181,047,368 - 181,143,321 (-)NCBIHuRef
CHM1_13183,602,021 - 183,699,858 (-)NCBICHM1_1
T2T-CHM13v2.03186,729,643 - 186,827,475 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
(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)
2,3,7,8-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,ISO)
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)
aristolochic acid A  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP,ISO)
azoxystrobin  (EXP)
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)
CGP 52608  (EXP)
chlordecone  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
chrysene  (ISO)
chrysin  (EXP)
cisplatin  (EXP)
clofibric acid  (ISO)
cocaine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
coumarin  (EXP)
coumestrol  (EXP)
crotonaldehyde  (EXP)
curcumin  (EXP)
cycloheximide  (EXP)
daidzein  (EXP)
deguelin  (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)
FR900359  (EXP)
fulvestrant  (EXP,ISO)
furan  (ISO)
genistein  (EXP,ISO)
gentamycin  (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)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
picene  (EXP)
picoxystrobin  (EXP)
potassium chromate  (EXP)
probenecid  (EXP)
quercetin  (EXP)
resveratrol  (EXP,ISO)
rifampicin  (EXP)
rotenone  (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)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. Differential regulation of transport proteins in the periinfarct region following reversible middle cerebral artery occlusion in rats. Dazert P, etal., Neuroscience. 2006 Nov 3;142(4):1071-9. Epub 2006 Sep 25.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Transport of xenobiotics across the blood-brain barrier. Hagenbuch B, etal., News Physiol Sci 2002 Dec;17:231-4.
4. Expression and localization of human multidrug resistance protein (ABCC) family members in pancreatic carcinoma. Konig J, etal., Int J Cancer. 2005 Jun 20;115(3):359-67.
5. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
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:15501592   PMID:15631998   PMID:15861033   PMID:15899835  
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:24836561   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:31871319   PMID:32828758   PMID:32906129   PMID:33087821   PMID:33961781   PMID:34079125   PMID:34271023   PMID:34494510   PMID:34768109  
PMID:35141332   PMID:35337019   PMID:35844135   PMID:35914814   PMID:37704626   PMID:38117590  


Genomics

Comparative Map Data
ABCC5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383183,919,934 - 184,017,884 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3183,919,934 - 184,017,939 (-)EnsemblGRCh38hg38GRCh38
GRCh373183,637,722 - 183,735,672 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363185,120,416 - 185,218,421 (-)NCBINCBI36Build 36hg18NCBI36
Build 343185,120,427 - 185,218,377NCBI
Celera3182,081,049 - 182,178,505 (-)NCBICelera
Cytogenetic Map3q27.1NCBI
HuRef3181,047,368 - 181,143,321 (-)NCBIHuRef
CHM1_13183,602,021 - 183,699,858 (-)NCBICHM1_1
T2T-CHM13v2.03186,729,643 - 186,827,475 (-)NCBIT2T-CHM13v2.0
Abcc5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391620,150,053 - 20,245,178 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1620,150,053 - 20,245,144 (-)EnsemblGRCm39 Ensembl
GRCm381620,331,303 - 20,426,428 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1620,331,303 - 20,426,394 (-)EnsemblGRCm38mm10GRCm38
MGSCv371620,331,376 - 20,426,467 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361620,244,846 - 20,339,937 (-)NCBIMGSCv36mm8
Celera1620,894,801 - 20,990,015 (-)NCBICelera
Cytogenetic Map16A3NCBI
cM Map1612.41NCBI
Abcc5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81193,975,579 - 94,071,659 (+)NCBIGRCr8
mRatBN7.21180,473,809 - 80,567,257 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1180,473,872 - 80,567,253 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1189,196,026 - 89,290,231 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01181,849,454 - 81,943,659 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01180,910,512 - 81,004,718 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01184,395,982 - 84,490,215 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1184,396,033 - 84,490,211 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01187,460,314 - 87,554,521 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41182,714,334 - 82,809,354 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v22181,792,224 - 181,891,651 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13181,796,940 - 181,895,418 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03180,956,139 - 181,054,112 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13189,122,590 - 189,219,492 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3189,122,590 - 189,219,492 (-)Ensemblpanpan1.1panPan2
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 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03416,763,912 - 16,854,022 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3416,763,907 - 16,855,232 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13416,802,194 - 16,888,327 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03416,797,769 - 16,884,117 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03417,027,936 - 17,114,432 (-)NCBIUU_Cfam_GSD_1.0
Abcc5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602119,746,167 - 119,824,457 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365785,837,993 - 5,916,274 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365785,838,044 - 5,916,287 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABCC5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13121,869,600 - 121,926,071 (-)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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1155,409,921 - 5,505,334 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl155,409,861 - 5,505,315 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606314,190,772 - 14,287,337 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Abcc5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473072,534,329 - 72,623,263 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473072,529,299 - 72,621,108 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ABCC5
54 total Variants

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
NC_000003.12:g.177772523_185716872dup 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
NM_005688.4(ABCC5):c.1663G>A (p.Glu555Lys) single nucleotide variant Inborn genetic diseases [RCV003260100] Chr3:183971661 [GRCh38]
Chr3:183689449 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.2870G>A (p.Arg957Gln) single nucleotide variant Inborn genetic diseases [RCV003306882] Chr3:183951515 [GRCh38]
Chr3:183669303 [GRCh37]
Chr3:3q27.1		 uncertain significance
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
NM_005688.4(ABCC5):c.2383A>G (p.Asn795Asp) single nucleotide variant Inborn genetic diseases [RCV003247467] Chr3:183959832 [GRCh38]
Chr3:183677620 [GRCh37]
Chr3:3q27.1		 uncertain significance
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.1782T>C (p.Cys594=) single nucleotide variant not provided [RCV001658582] Chr3:183967746 [GRCh38]
Chr3:183685534 [GRCh37]
Chr3:3q27.1		 benign
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
GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3 copy number gain not provided [RCV001795540] Chr3:175119199..187592480 [GRCh37]
Chr3:3q26.31-27.3		 pathogenic
GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935) copy number loss not specified [RCV002053393] Chr3:182189525..187212935 [GRCh37]
Chr3:3q26.33-27.3		 pathogenic
GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042) copy number loss not specified [RCV002053395] Chr3:183178932..186838042 [GRCh37]
Chr3:3q27.1-27.3		 pathogenic
NC_000003.11:g.(?_182733226)_(184094097_?)del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003116435]|ALG3-congenital disorder of glycosylation [RCV003116434] Chr3:182733226..184094097 [GRCh37]
Chr3:3q27.1		 pathogenic|uncertain significance
NC_000003.11:g.(?_183368145)_(184094097_?)del deletion not provided [RCV003113479] Chr3:183368145..184094097 [GRCh37]
Chr3:3q27.1		 uncertain significance
GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3 copy number gain Isolated anorectal malformation [RCV002286610] Chr3:171558472..197871052 [GRCh37]
Chr3:3q26.31-29		 likely pathogenic
GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3 copy number gain See cases [RCV002286344] Chr3:183498520..197851986 [GRCh37]
Chr3:3q27.1-29		 pathogenic
GRCh37/hg19 3q27.1-28(chr3:183556940-188083060) copy number loss Short stature [RCV002280742] Chr3:183556940..188083060 [GRCh37]
Chr3:3q27.1-28		 pathogenic
GRCh37/hg19 3q26.33-27.2(chr3:181062175-185474509)x1 copy number loss not provided [RCV002291534] Chr3:181062175..185474509 [GRCh37]
Chr3:3q26.33-27.2		 pathogenic
NM_005688.4(ABCC5):c.3545C>T (p.Ala1182Val) single nucleotide variant Inborn genetic diseases [RCV003283777] Chr3:183942876 [GRCh38]
Chr3:183660664 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.1270C>G (p.Leu424Val) single nucleotide variant Inborn genetic diseases [RCV002773527] Chr3:183978529 [GRCh38]
Chr3:183696317 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.922A>G (p.Met308Val) single nucleotide variant Inborn genetic diseases [RCV002753665] Chr3:183982528 [GRCh38]
Chr3:183700316 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.1279G>A (p.Asp427Asn) single nucleotide variant Inborn genetic diseases [RCV002818395] Chr3:183978520 [GRCh38]
Chr3:183696308 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.4300G>A (p.Ala1434Thr) single nucleotide variant Inborn genetic diseases [RCV002683744] Chr3:183921314 [GRCh38]
Chr3:183639102 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.734G>A (p.Arg245Gln) single nucleotide variant Inborn genetic diseases [RCV002688491] Chr3:183982865 [GRCh38]
Chr3:183700653 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.752G>A (p.Arg251Gln) single nucleotide variant Inborn genetic diseases [RCV002778173] Chr3:183982847 [GRCh38]
Chr3:183700635 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.896G>A (p.Gly299Glu) single nucleotide variant Inborn genetic diseases [RCV002778113] Chr3:183982554 [GRCh38]
Chr3:183700342 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.420G>C (p.Glu140Asp) single nucleotide variant Inborn genetic diseases [RCV002704550] Chr3:183988595 [GRCh38]
Chr3:183706383 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.506G>A (p.Arg169Lys) single nucleotide variant Inborn genetic diseases [RCV002694464] Chr3:183987855 [GRCh38]
Chr3:183705643 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.2476G>A (p.Glu826Lys) single nucleotide variant Inborn genetic diseases [RCV002799898] Chr3:183959739 [GRCh38]
Chr3:183677527 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.1949A>G (p.Asp650Gly) single nucleotide variant Inborn genetic diseases [RCV002888746] Chr3:183965386 [GRCh38]
Chr3:183683174 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.628G>A (p.Ala210Thr) single nucleotide variant Inborn genetic diseases [RCV002693516] Chr3:183982971 [GRCh38]
Chr3:183700759 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.3853A>G (p.Arg1285Gly) single nucleotide variant Inborn genetic diseases [RCV002822640] Chr3:183937902 [GRCh38]
Chr3:183655690 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.671G>A (p.Gly224Asp) single nucleotide variant Inborn genetic diseases [RCV002915360] Chr3:183982928 [GRCh38]
Chr3:183700716 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.2665G>A (p.Gly889Arg) single nucleotide variant Inborn genetic diseases [RCV002956749] Chr3:183953088 [GRCh38]
Chr3:183670876 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.1727G>A (p.Arg576Lys) single nucleotide variant Inborn genetic diseases [RCV002939412] Chr3:183971597 [GRCh38]
Chr3:183689385 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.3608G>A (p.Arg1203Gln) single nucleotide variant Inborn genetic diseases [RCV002812182] Chr3:183942813 [GRCh38]
Chr3:183660601 [GRCh37]
Chr3:3q27.1		 likely benign
NM_005688.4(ABCC5):c.3664A>C (p.Lys1222Gln) single nucleotide variant Inborn genetic diseases [RCV002813220] Chr3:183942757 [GRCh38]
Chr3:183660545 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.4004G>A (p.Arg1335Gln) single nucleotide variant Inborn genetic diseases [RCV002809020] Chr3:183927373 [GRCh38]
Chr3:183645161 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.2014A>G (p.Ser672Gly) single nucleotide variant Inborn genetic diseases [RCV002959324] Chr3:183965202 [GRCh38]
Chr3:183682990 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.4147A>T (p.Thr1383Ser) single nucleotide variant Inborn genetic diseases [RCV002809105] Chr3:183925620 [GRCh38]
Chr3:183643408 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.490G>A (p.Ala164Thr) single nucleotide variant Inborn genetic diseases [RCV002812569] Chr3:183987871 [GRCh38]
Chr3:183705659 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.3088A>T (p.Ile1030Phe) single nucleotide variant Inborn genetic diseases [RCV002718882] Chr3:183949982 [GRCh38]
Chr3:183667770 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.540C>G (p.Ile180Met) single nucleotide variant Inborn genetic diseases [RCV003193134] Chr3:183987821 [GRCh38]
Chr3:183705609 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.3071T>C (p.Leu1024Pro) single nucleotide variant Inborn genetic diseases [RCV003203722] Chr3:183949999 [GRCh38]
Chr3:183667787 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.3916A>G (p.Thr1306Ala) single nucleotide variant Inborn genetic diseases [RCV003178649] Chr3:183928764 [GRCh38]
Chr3:183646552 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.3905C>G (p.Ala1302Gly) single nucleotide variant Inborn genetic diseases [RCV003194476] Chr3:183928775 [GRCh38]
Chr3:183646563 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.503G>A (p.Arg168Gln) single nucleotide variant Inborn genetic diseases [RCV003354706] Chr3:183987858 [GRCh38]
Chr3:183705646 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.1243G>A (p.Val415Met) single nucleotide variant Inborn genetic diseases [RCV003385362] Chr3:183978556 [GRCh38]
Chr3:183696344 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.2222C>T (p.Thr741Ile) single nucleotide variant Inborn genetic diseases [RCV003385556] Chr3:183963398 [GRCh38]
Chr3:183681186 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.11T>A (p.Ile4Asn) single nucleotide variant Inborn genetic diseases [RCV003366670] Chr3:184014382 [GRCh38]
Chr3:183732170 [GRCh37]
Chr3:3q27.1		 uncertain significance
Single allele duplication not provided [RCV003448704] Chr3:176412210..197847235 [GRCh37]
Chr3:3q26.32-29		 pathogenic
NM_005688.4(ABCC5):c.2700G>A (p.Ser900=) single nucleotide variant not provided [RCV003434810] Chr3:183951971 [GRCh38]
Chr3:183669759 [GRCh37]
Chr3:3q27.1		 likely benign
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29		 pathogenic
NM_005688.4(ABCC5):c.591+2369C>T single nucleotide variant not provided [RCV003439062] Chr3:183985401 [GRCh38]
Chr3:183703189 [GRCh37]
Chr3:3q27.1		 benign
NM_005688.4(ABCC5):c.1502C>A (p.Ser501Tyr) single nucleotide variant not provided [RCV003439061] Chr3:183971822 [GRCh38]
Chr3:183689610 [GRCh37]
Chr3:3q27.1		 likely benign
GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1 copy number loss not specified [RCV003986441] Chr3:179391972..185539073 [GRCh37]
Chr3:3q26.33-27.2		 pathogenic
NM_005688.4(ABCC5):c.3203A>G (p.Asn1068Ser) single nucleotide variant not provided [RCV003886156] Chr3:183949777 [GRCh38]
Chr3:183667565 [GRCh37]
Chr3:3q27.1		 likely benign
NM_005688.4(ABCC5):c.836T>C (p.Ile279Thr) single nucleotide variant Inborn genetic diseases [RCV003378314] Chr3:183982614 [GRCh38]
Chr3:183700402 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.1718G>A (p.Arg573His) single nucleotide variant Inborn genetic diseases [RCV002769573] Chr3:183971606 [GRCh38]
Chr3:183689394 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_005688.4(ABCC5):c.2897C>A (p.Thr966Asn) single nucleotide variant Inborn genetic diseases [RCV003339337] Chr3:183951488 [GRCh38]
Chr3:183669276 [GRCh37]
Chr3:3q27.1		 uncertain significance
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.

Markers in Region
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


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
  XM_047447098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344833 (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
  CP068275 (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
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3183,919,938 - 184,017,939 (-)Ensembl
RefSeq Acc Id: ENST00000334444   ⟹   ENSP00000333926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3183,919,934 - 184,017,884 (-)Ensembl
RefSeq Acc Id: ENST00000382494   ⟹   ENSP00000371934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3183,983,753 - 184,017,889 (-)Ensembl
RefSeq Acc Id: ENST00000392579   ⟹   ENSP00000376358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3183,983,753 - 184,017,889 (-)Ensembl
RefSeq Acc Id: ENST00000427120   ⟹   ENSP00000404809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3183,983,753 - 184,017,863 (-)Ensembl
RefSeq Acc Id: ENST00000437205   ⟹   ENSP00000403510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3183,919,939 - 184,017,836 (-)Ensembl
RefSeq Acc Id: ENST00000437341   ⟹   ENSP00000399726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3183,988,573 - 184,017,444 (-)Ensembl
RefSeq Acc Id: ENST00000438979   ⟹   ENSP00000409913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3183,987,771 - 184,017,916 (-)Ensembl
RefSeq Acc Id: ENST00000443376   ⟹   ENSP00000416840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3183,983,753 - 184,017,889 (-)Ensembl
RefSeq Acc Id: ENST00000443497   ⟹   ENSP00000404302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3183,925,660 - 183,942,780 (-)Ensembl
RefSeq Acc Id: ENST00000446941   ⟹   ENSP00000390911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3184,000,663 - 184,017,939 (-)Ensembl
RefSeq Acc Id: ENST00000476402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3183,967,304 - 183,971,831 (-)Ensembl
RefSeq Acc Id: ENST00000492216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.03186,793,241 - 186,827,384 (-)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
T2T-CHM13v2.03186,729,643 - 186,827,384 (-)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
T2T-CHM13v2.03186,729,643 - 186,827,384 (-)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
T2T-CHM13v2.03186,793,241 - 186,827,384 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005247059   ⟹   XP_005247116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,919,934 - 184,017,884 (-)NCBI
GRCh373183,637,722 - 183,735,803 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512314   ⟹   XP_011510616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,919,934 - 184,017,884 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512315   ⟹   XP_011510617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,927,450 - 184,017,884 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005493   ⟹   XP_016860982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,983,753 - 184,017,884 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047447098   ⟹   XP_047303054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,919,934 - 184,017,884 (-)NCBI
RefSeq Acc Id: XM_047447099   ⟹   XP_047303055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,983,753 - 184,015,639 (-)NCBI
RefSeq Acc Id: XM_047447100   ⟹   XP_047303056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,983,753 - 184,017,884 (-)NCBI
RefSeq Acc Id: XM_054344826   ⟹   XP_054200801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03186,729,643 - 186,827,042 (-)NCBI
RefSeq Acc Id: XM_054344827   ⟹   XP_054200802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03186,729,643 - 186,826,976 (-)NCBI
RefSeq Acc Id: XM_054344828   ⟹   XP_054200803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03186,729,643 - 186,826,763 (-)NCBI
RefSeq Acc Id: XM_054344829   ⟹   XP_054200804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03186,729,643 - 186,827,475 (-)NCBI
RefSeq Acc Id: XM_054344830   ⟹   XP_054200805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03186,737,130 - 186,827,384 (-)NCBI
RefSeq Acc Id: XM_054344831   ⟹   XP_054200806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03186,793,241 - 186,827,384 (-)NCBI
RefSeq Acc Id: XM_054344832   ⟹   XP_054200807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03186,793,241 - 186,826,744 (-)NCBI
RefSeq Acc Id: XM_054344833   ⟹   XP_054200808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03186,793,241 - 186,827,017 (-)NCBI
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_005247116 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510616 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510617 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860982 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303054 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303055 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303056 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200801 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200802 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200803 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200804 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200805 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200806 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200807 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200808 (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  
Ensembl Protein ENSP00000265586.6
  ENSP00000333926
  ENSP00000333926.6
  ENSP00000371934
  ENSP00000371934.2
  ENSP00000376358.2
  ENSP00000390911.2
  ENSP00000399726.1
  ENSP00000403510.1
  ENSP00000404302.1
  ENSP00000404809
  ENSP00000404809.2
  ENSP00000409913.2
  ENSP00000416840.1
GenBank Protein O15440 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_005679   ⟸   NM_005688
- Peptide Label: isoform 1
- UniProtKB: Q9UNP5 (UniProtKB/Swiss-Prot),   Q9UN85 (UniProtKB/Swiss-Prot),   Q86W30 (UniProtKB/Swiss-Prot),   Q86UX3 (UniProtKB/Swiss-Prot),   Q29ZB1 (UniProtKB/Swiss-Prot),   Q29ZA9 (UniProtKB/Swiss-Prot),   O14517 (UniProtKB/Swiss-Prot),   B9EIQ2 (UniProtKB/Swiss-Prot),   Q9UQC3 (UniProtKB/Swiss-Prot),   O15440 (UniProtKB/Swiss-Prot),   Q59FK6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001018881   ⟸   NM_001023587
- Peptide Label: isoform 2
- UniProtKB: A5PKY6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005247116   ⟸   XM_005247059
- Peptide Label: isoform X1
- UniProtKB: Q9UNP5 (UniProtKB/Swiss-Prot),   Q9UN85 (UniProtKB/Swiss-Prot),   Q86W30 (UniProtKB/Swiss-Prot),   Q86UX3 (UniProtKB/Swiss-Prot),   Q29ZB1 (UniProtKB/Swiss-Prot),   Q29ZA9 (UniProtKB/Swiss-Prot),   O14517 (UniProtKB/Swiss-Prot),   B9EIQ2 (UniProtKB/Swiss-Prot),   Q9UQC3 (UniProtKB/Swiss-Prot),   O15440 (UniProtKB/Swiss-Prot),   Q59FK6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011510616   ⟸   XM_011512314
- Peptide Label: isoform X1
- UniProtKB: Q9UNP5 (UniProtKB/Swiss-Prot),   Q9UN85 (UniProtKB/Swiss-Prot),   Q86W30 (UniProtKB/Swiss-Prot),   Q86UX3 (UniProtKB/Swiss-Prot),   Q29ZB1 (UniProtKB/Swiss-Prot),   Q29ZA9 (UniProtKB/Swiss-Prot),   B9EIQ2 (UniProtKB/Swiss-Prot),   O14517 (UniProtKB/Swiss-Prot),   Q9UQC3 (UniProtKB/Swiss-Prot),   O15440 (UniProtKB/Swiss-Prot),   Q59FK6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011510617   ⟸   XM_011512315
- Peptide Label: isoform X2
- UniProtKB: Q59FK6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001306961   ⟸   NM_001320032
- Peptide Label: isoform 3
- UniProtKB: O15440 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016860982   ⟸   XM_017005493
- Peptide Label: isoform X3
- UniProtKB: A5PKY6 (UniProtKB/TrEMBL)
- 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
RefSeq Acc Id: XP_047303054   ⟸   XM_047447098
- Peptide Label: isoform X1
- UniProtKB: Q9UNP5 (UniProtKB/Swiss-Prot),   Q9UN85 (UniProtKB/Swiss-Prot),   Q86W30 (UniProtKB/Swiss-Prot),   Q86UX3 (UniProtKB/Swiss-Prot),   Q29ZB1 (UniProtKB/Swiss-Prot),   Q29ZA9 (UniProtKB/Swiss-Prot),   O15440 (UniProtKB/Swiss-Prot),   O14517 (UniProtKB/Swiss-Prot),   B9EIQ2 (UniProtKB/Swiss-Prot),   Q9UQC3 (UniProtKB/Swiss-Prot),   Q59FK6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303056   ⟸   XM_047447100
- Peptide Label: isoform X3
- UniProtKB: A5PKY6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303055   ⟸   XM_047447099
- Peptide Label: isoform X3
- UniProtKB: A5PKY6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200804   ⟸   XM_054344829
- Peptide Label: isoform X1
- UniProtKB: Q9UQC3 (UniProtKB/Swiss-Prot),   Q9UNP5 (UniProtKB/Swiss-Prot),   Q9UN85 (UniProtKB/Swiss-Prot),   Q86W30 (UniProtKB/Swiss-Prot),   Q86UX3 (UniProtKB/Swiss-Prot),   Q29ZB1 (UniProtKB/Swiss-Prot),   Q29ZA9 (UniProtKB/Swiss-Prot),   O15440 (UniProtKB/Swiss-Prot),   O14517 (UniProtKB/Swiss-Prot),   B9EIQ2 (UniProtKB/Swiss-Prot),   Q59FK6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200801   ⟸   XM_054344826
- Peptide Label: isoform X1
- UniProtKB: Q9UQC3 (UniProtKB/Swiss-Prot),   Q9UNP5 (UniProtKB/Swiss-Prot),   Q9UN85 (UniProtKB/Swiss-Prot),   Q86W30 (UniProtKB/Swiss-Prot),   Q86UX3 (UniProtKB/Swiss-Prot),   Q29ZB1 (UniProtKB/Swiss-Prot),   Q29ZA9 (UniProtKB/Swiss-Prot),   O15440 (UniProtKB/Swiss-Prot),   O14517 (UniProtKB/Swiss-Prot),   B9EIQ2 (UniProtKB/Swiss-Prot),   Q59FK6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200802   ⟸   XM_054344827
- Peptide Label: isoform X1
- UniProtKB: Q9UQC3 (UniProtKB/Swiss-Prot),   Q9UNP5 (UniProtKB/Swiss-Prot),   Q9UN85 (UniProtKB/Swiss-Prot),   Q86W30 (UniProtKB/Swiss-Prot),   Q86UX3 (UniProtKB/Swiss-Prot),   Q29ZB1 (UniProtKB/Swiss-Prot),   Q29ZA9 (UniProtKB/Swiss-Prot),   O15440 (UniProtKB/Swiss-Prot),   O14517 (UniProtKB/Swiss-Prot),   B9EIQ2 (UniProtKB/Swiss-Prot),   Q59FK6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200803   ⟸   XM_054344828
- Peptide Label: isoform X1
- UniProtKB: Q9UQC3 (UniProtKB/Swiss-Prot),   Q9UNP5 (UniProtKB/Swiss-Prot),   Q9UN85 (UniProtKB/Swiss-Prot),   Q86W30 (UniProtKB/Swiss-Prot),   Q86UX3 (UniProtKB/Swiss-Prot),   Q29ZB1 (UniProtKB/Swiss-Prot),   Q29ZA9 (UniProtKB/Swiss-Prot),   O15440 (UniProtKB/Swiss-Prot),   O14517 (UniProtKB/Swiss-Prot),   B9EIQ2 (UniProtKB/Swiss-Prot),   Q59FK6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200805   ⟸   XM_054344830
- Peptide Label: isoform X2
- UniProtKB: Q59FK6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200806   ⟸   XM_054344831
- Peptide Label: isoform X3
- UniProtKB: A5PKY6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200808   ⟸   XM_054344833
- Peptide Label: isoform X3
- UniProtKB: A5PKY6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200807   ⟸   XM_054344832
- Peptide Label: isoform X3
- UniProtKB: A5PKY6 (UniProtKB/TrEMBL)
Protein Domains
ABC transmembrane type-1   ABC transporter

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15440-F1-model_v2 AlphaFold O15440 1-1437 view protein structure

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

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 Transcript ENST00000265586.10 UniProtKB/Swiss-Prot
  ENST00000334444 ENTREZGENE
  ENST00000334444.11 UniProtKB/Swiss-Prot
  ENST00000382494 ENTREZGENE
  ENST00000382494.6 UniProtKB/Swiss-Prot
  ENST00000392579.6 UniProtKB/Swiss-Prot
  ENST00000427120 ENTREZGENE
  ENST00000427120.6 UniProtKB/TrEMBL
  ENST00000437205.5 UniProtKB/TrEMBL
  ENST00000437341.5 UniProtKB/TrEMBL
  ENST00000438979.6 UniProtKB/TrEMBL
  ENST00000443376 ENTREZGENE
  ENST00000443376.5 UniProtKB/Swiss-Prot
  ENST00000443497.1 UniProtKB/TrEMBL
  ENST00000446941.2 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1560.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 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, UniProtKB/TrEMBL
  ABC1_TM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC1_TM_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter-like_CS UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10057 UniProtKB/Swiss-Prot
NCBI Gene 10057 ENTREZGENE
OMIM 605251 OMIM
PANTHER ATP-BINDING CASSETTE SUB-FAMILY C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR24223:SF196 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ABC_membrane UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_tran UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ABCC5 RGD, PharmGKB
PROSITE ABC_TM1F UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_TRANSPORTER_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_TRANSPORTER_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP P-loop containing nucleoside triphosphate hydrolases UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
  SSF90123 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A5PKY6 ENTREZGENE, UniProtKB/TrEMBL
  B9EIQ2 ENTREZGENE
  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
  O14517 ENTREZGENE
  O15440 ENTREZGENE
  Q29ZA9 ENTREZGENE
  Q29ZB1 ENTREZGENE
  Q59FK6 ENTREZGENE, UniProtKB/TrEMBL
  Q86UX3 ENTREZGENE
  Q86W30 ENTREZGENE
  Q9UN85 ENTREZGENE
  Q9UNP5 ENTREZGENE
  Q9UQC3 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