ABCB6 (ATP binding cassette subfamily B member 6 (Langereis blood group)) - Rat Genome Database

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Gene: ABCB6 (ATP binding cassette subfamily B member 6 (Langereis blood group)) Homo sapiens
Analyze
Symbol: ABCB6
Name: ATP binding cassette subfamily B member 6 (Langereis blood group)
RGD ID: 731735
HGNC Page HGNC
Description: Exhibits several functions, including ABC-type heme transporter activity; ATP binding activity; and heme binding activity. Involved in animal organ development; heme transport; and porphyrin-containing compound biosynthetic process. Localizes to several cellular components, including Golgi apparatus; integral component of mitochondrial outer membrane; and nucleoplasm. Implicated in dyschromatosis universalis hereditaria.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ABC; ABC14; ATP-binding cassette half-transporter; ATP-binding cassette sub-family B member 6; ATP-binding cassette sub-family B member 6, mitochondrial; ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group); DUH3; EST45597; FLJ22414; LAN; MCOPCB7; mitochondrial ABC transporter 3; mt-ABC transporter 3; MTABC3; P-glycoprotein-related protein; PRP; PSHK2; truncated ATP binding cassette subfamily b member 6; ubiquitously-expressed mammalian ABC half transporter; umat
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 Ensembl2219,209,772 - 219,218,994 (-)EnsemblGRCh38hg38GRCh38
GRCh382219,209,772 - 219,218,958 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372220,074,494 - 220,083,680 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,782,738 - 219,791,916 (-)NCBINCBI36hg18NCBI36
Build 342219,899,998 - 219,909,177NCBI
Celera2213,844,200 - 213,853,379 (-)NCBI
Cytogenetic Map2q35NCBI
HuRef2211,927,785 - 211,937,009 (-)NCBIHuRef
CHM1_12220,080,323 - 220,089,548 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3-methylcholanthrene  (EXP,ISO)
4,4'-diaminodiphenylmethane  (ISO)
5-fluorouracil  (EXP)
acrylamide  (EXP)
amitrole  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (EXP)
bisphenol A  (EXP,ISO)
bupropion  (ISO)
buta-1,3-diene  (ISO)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
chloroacetaldehyde  (EXP)
chloroprene  (ISO)
chlorpromazine  (ISO)
cidofovir anhydrous  (EXP)
cisplatin  (EXP)
clobetasol  (ISO)
clofibrate  (ISO)
clothianidin  (EXP)
cobalt atom  (EXP)
cobalt dichloride  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
cyclosporin A  (EXP)
dextran sulfate  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
ethyl methanesulfonate  (EXP)
fenofibrate  (ISO)
ferroheme b  (EXP,ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
heme b  (EXP,ISO)
ifosfamide  (EXP)
leflunomide  (EXP,ISO)
melatonin  (ISO)
mercury dibromide  (EXP)
metformin  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
midazolam  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
ochratoxin A  (EXP)
oxaliplatin  (ISO)
p-chloromercuribenzoic acid  (EXP)
p-toluidine  (ISO)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
phenobarbital  (EXP,ISO)
phenylmercury acetate  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
pyrazinecarboxamide  (ISO)
reactive oxygen species  (EXP)
rifampicin  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
sodium dodecyl sulfate  (EXP)
sulforaphane  (EXP)
sunitinib  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
troglitazone  (ISO)
Tungsten carbide  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vincristine  (EXP)
zinc dichloride  (EXP)
zoledronic acid  (EXP)
Zoxazolamine  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

References

Additional References at PubMed
PMID:8619474   PMID:8894702   PMID:9110174   PMID:9288777   PMID:11955620   PMID:11977179   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16791740   PMID:17006453   PMID:17661442  
PMID:18279659   PMID:18624398   PMID:19056867   PMID:19343046   PMID:20823549   PMID:20877624   PMID:21199866   PMID:21849266   PMID:21873635   PMID:21903422   PMID:22100072   PMID:22226084  
PMID:22246506   PMID:22258451   PMID:22655043   PMID:22688660   PMID:22761424   PMID:22939629   PMID:22958180   PMID:23180570   PMID:23483087   PMID:23519333   PMID:23763549   PMID:23792964  
PMID:23793916   PMID:24192121   PMID:24224009   PMID:24456066   PMID:24457600   PMID:24498303   PMID:24947683   PMID:25202056   PMID:25288164   PMID:25360778   PMID:25573285   PMID:25627919  
PMID:26186194   PMID:26496610   PMID:26517908   PMID:26708806   PMID:27151991   PMID:27349731   PMID:27507172   PMID:27756835   PMID:27857072   PMID:28112576   PMID:28514442   PMID:29507755  
PMID:29509794   PMID:31053883   PMID:31091453   PMID:31189171   PMID:31527615   PMID:31536960   PMID:32710948   PMID:33007128   PMID:33144569  


Genomics

Comparative Map Data
ABCB6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2219,209,772 - 219,218,994 (-)EnsemblGRCh38hg38GRCh38
GRCh382219,209,772 - 219,218,958 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372220,074,494 - 220,083,680 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,782,738 - 219,791,916 (-)NCBINCBI36hg18NCBI36
Build 342219,899,998 - 219,909,177NCBI
Celera2213,844,200 - 213,853,379 (-)NCBI
Cytogenetic Map2q35NCBI
HuRef2211,927,785 - 211,937,009 (-)NCBIHuRef
CHM1_12220,080,323 - 220,089,548 (-)NCBICHM1_1
Abcb6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39175,148,284 - 75,157,066 (-)NCBIGRCm39mm39
GRCm39 Ensembl175,148,361 - 75,157,036 (-)Ensembl
GRCm38175,171,640 - 75,180,392 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl175,171,717 - 75,180,392 (-)EnsemblGRCm38mm10GRCm38
MGSCv37175,168,214 - 75,176,857 (-)NCBIGRCm37mm9NCBIm37
MGSCv36175,054,787 - 75,063,430 (-)NCBImm8
Celera175,662,505 - 75,671,146 (-)NCBICelera
Cytogenetic Map1C4NCBI
Abcb6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2976,668,554 - 76,677,263 (-)NCBI
Rnor_6.0 Ensembl982,373,946 - 82,382,272 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0982,373,950 - 82,382,228 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0982,143,211 - 82,151,489 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4974,454,805 - 74,463,083 (-)NCBIRGSC3.4rn4RGSC3.4
Celera974,239,003 - 74,247,281 (-)NCBICelera
Cytogenetic Map9q33NCBI
Abcb6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545314,215,408 - 14,222,172 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545314,215,104 - 14,222,338 (+)NCBIChiLan1.0ChiLan1.0
ABCB6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B225,058,771 - 225,067,626 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B225,058,771 - 225,067,626 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B106,467,345 - 106,476,614 (-)NCBIMhudiblu_PPA_v0panPan3
ABCB6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13725,760,478 - 25,767,753 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3725,760,477 - 25,769,841 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3726,586,363 - 26,593,649 (-)NCBI
ROS_Cfam_1.03725,775,702 - 25,782,979 (-)NCBI
UMICH_Zoey_3.13725,680,124 - 25,687,392 (-)NCBI
UNSW_CanFamBas_1.03725,615,230 - 25,622,496 (-)NCBI
UU_Cfam_GSD_1.03725,636,067 - 25,643,357 (-)NCBI
Abcb6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303175,285,868 - 175,292,790 (-)NCBI
SpeTri2.0NW_0049365691,628,649 - 1,635,599 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABCB6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15121,246,186 - 121,254,332 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115121,246,180 - 121,254,350 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215134,280,959 - 134,289,134 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ABCB6
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110105,113,729 - 105,122,948 (-)NCBI
ChlSab1.1 Ensembl10105,112,797 - 105,122,358 (-)Ensembl
Abcb6
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248235,797,897 - 5,805,055 (+)NCBI

Position Markers
A002Q44  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,084,125 - 220,084,247UniSTSGRCh37
Build 362219,792,369 - 219,792,491RGDNCBI36
Celera2213,853,832 - 213,853,954RGD
Cytogenetic Map2q36UniSTS
Cytogenetic Map2q35UniSTS
HuRef2211,937,422 - 211,937,544UniSTS
GeneMap99-GB4 RH Map2683.98UniSTS
RH68357  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,084,118 - 220,084,241UniSTSGRCh37
Build 362219,792,362 - 219,792,485RGDNCBI36
Celera2213,853,825 - 213,853,948RGD
Cytogenetic Map2q36UniSTS
Cytogenetic Map2q35UniSTS
HuRef2211,937,415 - 211,937,538UniSTS
GeneMap99-GB4 RH Map2682.56UniSTS
NCBI RH Map21772.3UniSTS
RH103428  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,074,722 - 220,075,129UniSTSGRCh37
Build 362219,782,966 - 219,783,373RGDNCBI36
Celera2213,844,428 - 213,844,835RGD
Cytogenetic Map2q36UniSTS
HuRef2211,928,019 - 211,928,426UniSTS
GeneMap99-GB4 RH Map2683.57UniSTS
RH121051  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,078,613 - 220,078,899UniSTSGRCh37
Build 362219,786,857 - 219,787,143RGDNCBI36
Celera2213,848,320 - 213,848,606RGD
Cytogenetic Map2q36UniSTS
HuRef2211,931,910 - 211,932,196UniSTS
TNG Radiation Hybrid Map2121638.0UniSTS
WI-19704  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,084,132 - 220,084,426UniSTSGRCh37
Build 362219,792,376 - 219,792,670RGDNCBI36
Celera2213,853,839 - 213,854,133RGD
Cytogenetic Map2q36UniSTS
Cytogenetic Map2q35UniSTS
HuRef2211,937,429 - 211,937,723UniSTS
GeneMap99-GB4 RH Map2683.77UniSTS
Whitehead-RH Map21009.1UniSTS
D2S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,074,517 - 220,074,658UniSTSGRCh37
Build 362219,782,761 - 219,782,902RGDNCBI36
Celera2213,844,223 - 213,844,364RGD
Cytogenetic Map2q36UniSTS
Cytogenetic Map2q35UniSTS
HuRef2211,927,814 - 211,927,955UniSTS
RH18248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,074,076 - 220,074,354UniSTSGRCh37
Build 362219,782,320 - 219,782,598RGDNCBI36
Celera2213,843,782 - 213,844,060RGD
Cytogenetic Map2q36UniSTS
Cytogenetic Map2q35UniSTS
HuRef2211,927,373 - 211,927,651UniSTS
GeneMap99-GB4 RH Map2682.63UniSTS
NCBI RH Map21772.3UniSTS
WI-20003  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,074,557 - 220,075,023UniSTSGRCh37
Build 362219,782,801 - 219,783,267RGDNCBI36
Celera2213,844,263 - 213,844,729RGD
Cytogenetic Map2q36UniSTS
HuRef2211,927,854 - 211,928,320UniSTS
GeneMap99-GB4 RH Map2683.96UniSTS
Whitehead-RH Map21009.4UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2856
Count of miRNA genes:946
Interacting mature miRNAs:1135
Transcripts:ENST00000265316, ENST00000295750, ENST00000417678, ENST00000439002, ENST00000443805, ENST00000448398, ENST00000452545, ENST00000485773, ENST00000487380, ENST00000492543, ENST00000492953, ENST00000494639, ENST00000496984, ENST00000497882
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2155 2246 1432 396 660 242 4068 2005 3395 90 1178 1313 157 1196 2774
Low 272 731 288 224 1260 219 287 188 321 294 276 293 14 8 14 4 1
Below cutoff 9 11 6 3 26 4 1 15 35 5 4 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB039371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB829902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB829903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB829904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB829905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB829906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB829907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB844675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB844676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB844677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB844678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB844679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB844680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB844681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB844682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB854110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB854111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB924645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB924646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB924647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB924648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB924649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF070598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF076775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF308472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF308473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ289233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK172812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL560811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW664349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF831582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF831583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF831584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF831585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF831586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF831587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF831588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF831589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX688759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK965668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK965669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U66673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265316   ⟹   ENSP00000265316
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,209,772 - 219,218,958 (-)Ensembl
RefSeq Acc Id: ENST00000295750   ⟹   ENSP00000295750
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,209,772 - 219,218,994 (-)Ensembl
RefSeq Acc Id: ENST00000417678   ⟹   ENSP00000392988
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,214,168 - 219,218,426 (-)Ensembl
RefSeq Acc Id: ENST00000443805   ⟹   ENSP00000414646
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,209,776 - 219,211,038 (-)Ensembl
RefSeq Acc Id: ENST00000448398   ⟹   ENSP00000404006
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,213,240 - 219,218,476 (-)Ensembl
RefSeq Acc Id: ENST00000452545   ⟹   ENSP00000401811
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,215,029 - 219,218,190 (-)Ensembl
RefSeq Acc Id: ENST00000485773
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,209,772 - 219,211,108 (-)Ensembl
RefSeq Acc Id: ENST00000487380
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,209,772 - 219,211,039 (-)Ensembl
RefSeq Acc Id: ENST00000492543
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,210,711 - 219,213,420 (-)Ensembl
RefSeq Acc Id: ENST00000492953
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,214,141 - 219,216,288 (-)Ensembl
RefSeq Acc Id: ENST00000494639
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,213,602 - 219,214,683 (-)Ensembl
RefSeq Acc Id: ENST00000496984
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,213,898 - 219,215,437 (-)Ensembl
RefSeq Acc Id: ENST00000497882
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,209,772 - 219,215,885 (-)Ensembl
RefSeq Acc Id: NM_001349828   ⟹   NP_001336757
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,209,772 - 219,218,958 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005689   ⟹   NP_005680
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,209,772 - 219,218,958 (-)NCBI
GRCh372220,074,488 - 220,083,712 (-)ENTREZGENE
Build 362219,782,738 - 219,791,916 (-)NCBI Archive
HuRef2211,927,785 - 211,937,009 (-)ENTREZGENE
CHM1_12220,080,323 - 220,089,548 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001336757 (Get FASTA)   NCBI Sequence Viewer  
  NP_005680 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC28653 (Get FASTA)   NCBI Sequence Viewer  
  AAF75107 (Get FASTA)   NCBI Sequence Viewer  
  AAG33617 (Get FASTA)   NCBI Sequence Viewer  
  AAG33618 (Get FASTA)   NCBI Sequence Viewer  
  AAH00559 (Get FASTA)   NCBI Sequence Viewer  
  AAH43423 (Get FASTA)   NCBI Sequence Viewer  
  AOZ15555 (Get FASTA)   NCBI Sequence Viewer  
  BAA96733 (Get FASTA)   NCBI Sequence Viewer  
  BAB71347 (Get FASTA)   NCBI Sequence Viewer  
  BAD18782 (Get FASTA)   NCBI Sequence Viewer  
  BAG64317 (Get FASTA)   NCBI Sequence Viewer  
  BAN91499 (Get FASTA)   NCBI Sequence Viewer  
  BAN91500 (Get FASTA)   NCBI Sequence Viewer  
  BAN91501 (Get FASTA)   NCBI Sequence Viewer  
  BAN91502 (Get FASTA)   NCBI Sequence Viewer  
  BAN91503 (Get FASTA)   NCBI Sequence Viewer  
  BAN91504 (Get FASTA)   NCBI Sequence Viewer  
  CAB95766 (Get FASTA)   NCBI Sequence Viewer  
  EAW70694 (Get FASTA)   NCBI Sequence Viewer  
  EAW70695 (Get FASTA)   NCBI Sequence Viewer  
  EAW70696 (Get FASTA)   NCBI Sequence Viewer  
  EAW70697 (Get FASTA)   NCBI Sequence Viewer  
  EAW70698 (Get FASTA)   NCBI Sequence Viewer  
  EAW70699 (Get FASTA)   NCBI Sequence Viewer  
  EAW70700 (Get FASTA)   NCBI Sequence Viewer  
  EAW70701 (Get FASTA)   NCBI Sequence Viewer  
  EAW70702 (Get FASTA)   NCBI Sequence Viewer  
  EAW70703 (Get FASTA)   NCBI Sequence Viewer  
  EAW70704 (Get FASTA)   NCBI Sequence Viewer  
  EAW70705 (Get FASTA)   NCBI Sequence Viewer  
  Q9NP58 (Get FASTA)   NCBI Sequence Viewer  
  QHB50533 (Get FASTA)   NCBI Sequence Viewer  
  QHB50534 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_005680   ⟸   NM_005689
- Peptide Label: isoform 1
- UniProtKB: Q9NP58 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001336757   ⟸   NM_001349828
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: ENSP00000401811   ⟸   ENST00000452545
RefSeq Acc Id: ENSP00000295750   ⟸   ENST00000295750
RefSeq Acc Id: ENSP00000392988   ⟸   ENST00000417678
RefSeq Acc Id: ENSP00000414646   ⟸   ENST00000443805
RefSeq Acc Id: ENSP00000404006   ⟸   ENST00000448398
RefSeq Acc Id: ENSP00000265316   ⟸   ENST00000265316
Promoters
RGD ID:6862884
Promoter ID:EPDNEW_H4607
Type:initiation region
Name:ABCB6_4
Description:ATP binding cassette subfamily B member 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4608  EPDNEW_H4609  EPDNEW_H4610  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,210,849 - 219,210,909EPDNEW
RGD ID:6862886
Promoter ID:EPDNEW_H4608
Type:initiation region
Name:ABCB6_2
Description:ATP binding cassette subfamily B member 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4607  EPDNEW_H4609  EPDNEW_H4610  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,218,433 - 219,218,493EPDNEW
RGD ID:6862888
Promoter ID:EPDNEW_H4609
Type:initiation region
Name:ABCB6_3
Description:ATP binding cassette subfamily B member 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4607  EPDNEW_H4608  EPDNEW_H4610  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,218,849 - 219,218,909EPDNEW
RGD ID:6862890
Promoter ID:EPDNEW_H4610
Type:initiation region
Name:ABCB6_1
Description:ATP binding cassette subfamily B member 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4607  EPDNEW_H4608  EPDNEW_H4609  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,218,958 - 219,219,018EPDNEW
RGD ID:6796455
Promoter ID:HG_KWN:37325
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000336028,   OTTHUMT00000336029,   OTTHUMT00000336030
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,783,609 - 219,784,109 (-)MPROMDB
RGD ID:6796457
Promoter ID:HG_KWN:37326
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_2Hour
Transcripts:OTTHUMT00000336027
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,786,021 - 219,786,521 (-)MPROMDB
RGD ID:6796454
Promoter ID:HG_KWN:37327
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000336022,   OTTHUMT00000336024,   OTTHUMT00000336025,   OTTHUMT00000336026
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,787,149 - 219,787,649 (-)MPROMDB
RGD ID:6797200
Promoter ID:HG_KWN:37328
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
Transcripts:ENST00000295750,   OTTHUMT00000336019,   OTTHUMT00000336023,   OTTHUMT00000336031,   UC002VKC.1,   UC010FWE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362219,791,619 - 219,792,119 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005689.4(ABCB6):c.717G>A (p.Trp239Ter) single nucleotide variant Langereis blood group [RCV000023434] Chr2:219216803 [GRCh38]
Chr2:220081525 [GRCh37]
Chr2:2q35
pathogenic|affects
NM_005689.4(ABCB6):c.1690_1691del (p.Met564fs) deletion Langereis blood group [RCV000023435] Chr2:219213467..219213468 [GRCh38]
Chr2:220078189..220078190 [GRCh37]
Chr2:2q35
pathogenic|affects
NM_005689.4(ABCB6):c.1942C>T (p.Arg648Ter) single nucleotide variant Langereis blood group [RCV000023436] Chr2:219212413 [GRCh38]
Chr2:220077135 [GRCh37]
Chr2:2q35
pathogenic|affects
NM_005689.4(ABCB6):c.1981_1982TC[2] (p.Leu662fs) microsatellite Langereis blood group [RCV000023437] Chr2:219211091..219211092 [GRCh38]
Chr2:220075813..220075814 [GRCh37]
Chr2:2q35
pathogenic|affects
NM_005689.4(ABCB6):c.2256+2T>G single nucleotide variant Langereis blood group [RCV000023438] Chr2:219210709 [GRCh38]
Chr2:220075431 [GRCh37]
Chr2:2q35
pathogenic|affects
NM_005689.4(ABCB6):c.2431C>G (p.Leu811Val) single nucleotide variant Microphthalmia, isolated, with coloboma 7 [RCV000023439] Chr2:219210036 [GRCh38]
Chr2:220074758 [GRCh37]
Chr2:2q35
pathogenic
NM_005689.4(ABCB6):c.169G>A (p.Ala57Thr) single nucleotide variant Microphthalmia, isolated, with coloboma 7 [RCV000023440] Chr2:219218505 [GRCh38]
Chr2:220083227 [GRCh37]
Chr2:2q35
pathogenic
NM_005689.4(ABCB6):c.1385C>T (p.Thr462Met) single nucleotide variant not provided [RCV000520814] Chr2:219214390 [GRCh38]
Chr2:220079112 [GRCh37]
Chr2:2q35
uncertain significance
NM_005689.4(ABCB6):c.1067T>C (p.Leu356Pro) single nucleotide variant Dyschromatosis universalis hereditaria 3 [RCV000054816] Chr2:219216084 [GRCh38]
Chr2:220080806 [GRCh37]
Chr2:2q35
pathogenic
NM_005689.4(ABCB6):c.508A>G (p.Ser170Gly) single nucleotide variant Dyschromatosis universalis hereditaria 3 [RCV000054817] Chr2:219218166 [GRCh38]
Chr2:220082888 [GRCh37]
Chr2:2q35
pathogenic
NM_005689.4(ABCB6):c.1736G>A (p.Gly579Glu) single nucleotide variant Dyschromatosis universalis hereditaria 3 [RCV000054818] Chr2:219213310 [GRCh38]
Chr2:220078032 [GRCh37]
Chr2:2q35
pathogenic
NM_005689.2(ABCB6):c.1796A>T (p.Tyr599Phe) single nucleotide variant Lung cancer [RCV000091900] Chr2:219213250 [GRCh38]
Chr2:220077972 [GRCh37]
Chr2:2q35
uncertain significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1 copy number loss See cases [RCV000052634] Chr2:219081620..225430308 [GRCh38]
Chr2:219946342..226295024 [GRCh37]
Chr2:219654586..226003268 [NCBI36]
Chr2:2q35-36.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3
pathogenic
NM_005689.2(ABCB6):c.1254C>T (p.Phe418=) single nucleotide variant Malignant melanoma [RCV000065419] Chr2:219214983 [GRCh38]
Chr2:220079705 [GRCh37]
Chr2:219787949 [NCBI36]
Chr2:2q35
not provided
NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln) single nucleotide variant Microphthalmia, isolated, with coloboma 7 [RCV000059344] Chr2:219217782 [GRCh38]
Chr2:220082504 [GRCh37]
Chr2:2q35
uncertain significance
NM_005689.4(ABCB6):c.1766G>A (p.Arg589His) single nucleotide variant not provided [RCV000119781] Chr2:219213280 [GRCh38]
Chr2:220078002 [GRCh37]
Chr2:2q35
not provided
NM_005689.4(ABCB6):c.369G>A (p.Trp123Ter) single nucleotide variant Dyschromatosis universalis hereditaria 3 [RCV001292989] Chr2:219218305 [GRCh38]
Chr2:220083027 [GRCh37]
Chr2:2q35
pathogenic
NM_005689.4(ABCB6):c.1124G>A (p.Arg375Gln) single nucleotide variant Pseudohyperkalemia, familial, 2, due to red cell leak [RCV000202403] Chr2:219216027 [GRCh38]
Chr2:220080749 [GRCh37]
Chr2:2q35
pathogenic
NM_005689.4(ABCB6):c.1123C>T (p.Arg375Trp) single nucleotide variant Pseudohyperkalemia, familial, 2, due to red cell leak [RCV000202404] Chr2:219216028 [GRCh38]
Chr2:220080750 [GRCh37]
Chr2:2q35
pathogenic
NM_005689.4(ABCB6):c.2168G>A (p.Arg723Gln) single nucleotide variant Pseudohyperkalemia, familial, 2, due to red cell leak [RCV000202405] Chr2:219210799 [GRCh38]
Chr2:220075521 [GRCh37]
Chr2:2q35
pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3
pathogenic
GRCh38/hg38 2q35(chr2:219081620-219758878)x3 copy number gain See cases [RCV000138093] Chr2:219081620..219758878 [GRCh38]
Chr2:219946342..220623600 [GRCh37]
Chr2:219654586..220331844 [NCBI36]
Chr2:2q35
uncertain significance
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3
pathogenic
NM_005689.4(ABCB6):c.1663C>A (p.Gln555Lys) single nucleotide variant Dyschromatosis universalis hereditaria 3 [RCV000190414] Chr2:219213495 [GRCh38]
Chr2:220078217 [GRCh37]
Chr2:2q35
pathogenic
NM_005689.4(ABCB6):c.574C>T (p.Arg192Trp) single nucleotide variant Langereis blood group [RCV000201942] Chr2:219217783 [GRCh38]
Chr2:220082505 [GRCh37]
Chr2:2q35
affects
NM_005689.4(ABCB6):c.826C>T (p.Arg276Trp) single nucleotide variant not provided [RCV000224725] Chr2:219216694 [GRCh38]
Chr2:220081416 [GRCh37]
Chr2:2q35
benign
NM_005689.4(ABCB6):c.1111_1117CGGATCG[1] (p.Ala373fs) microsatellite Langereis blood group [RCV000239437] Chr2:219216027..219216033 [GRCh38]
Chr2:220080749..220080755 [GRCh37]
Chr2:2q35
affects
NM_005689.4(ABCB6):c.1656-1G>A single nucleotide variant Langereis blood group [RCV000239440] Chr2:219213503 [GRCh38]
Chr2:220078225 [GRCh37]
Chr2:2q35
affects
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1 copy number loss not provided [RCV000585275] Chr2:217374144..227643620 [GRCh37]
Chr2:2q35-36.3
likely pathogenic
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 copy number gain See cases [RCV000448049] Chr2:219966808..237815985 [GRCh37]
Chr2:2q35-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q35(chr2:219275536-220266647)x3 copy number gain See cases [RCV000511655] Chr2:219275536..220266647 [GRCh37]
Chr2:2q35
uncertain significance
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser) single nucleotide variant not provided [RCV000514468] Chr2:219213842 [GRCh38]
Chr2:220078564 [GRCh37]
Chr2:2q35
likely benign
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3
pathogenic
GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1 copy number loss not provided [RCV000682163] Chr2:218813434..227450699 [GRCh37]
Chr2:2q35-36.3
pathogenic
NC_000002.11:g.(?_219135239)_(220290732_?)del deletion Myofibrillar myopathy 1 [RCV000707774] Chr2:219135239..220290732 [GRCh37]
Chr2:2q35
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
Single allele deletion Polydactyly [RCV000736029] Chr2:219925666..220914504 [GRCh37]
Chr2:2q35
pathogenic
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3
pathogenic
NM_005689.4(ABCB6):c.739C>T (p.Arg247Cys) single nucleotide variant not provided [RCV000948628] Chr2:219216781 [GRCh38]
Chr2:220081503 [GRCh37]
Chr2:2q35
benign
NM_005689.4(ABCB6):c.1943G>A (p.Arg648Gln) single nucleotide variant not provided [RCV000901777] Chr2:219212412 [GRCh38]
Chr2:220077134 [GRCh37]
Chr2:2q35
likely benign
NM_005689.4(ABCB6):c.688-9C>T single nucleotide variant not provided [RCV000964890] Chr2:219216841 [GRCh38]
Chr2:220081563 [GRCh37]
Chr2:2q35
benign
NM_005689.4(ABCB6):c.1273C>G (p.Leu425Val) single nucleotide variant not provided [RCV000922882] Chr2:219214964 [GRCh38]
Chr2:220079686 [GRCh37]
Chr2:2q35
likely benign
NM_005689.4(ABCB6):c.2415G>A (p.Arg805=) single nucleotide variant not provided [RCV000916292] Chr2:219210235 [GRCh38]
Chr2:220074957 [GRCh37]
Chr2:2q35
likely benign
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2
pathogenic
GRCh37/hg19 2q35(chr2:219879593-220346596)x3 copy number gain not provided [RCV000847670] Chr2:219879593..220346596 [GRCh37]
Chr2:2q35
uncertain significance
NM_005689.4(ABCB6):c.1361T>C (p.Val454Ala) single nucleotide variant not provided [RCV000950647] Chr2:219214414 [GRCh38]
Chr2:220079136 [GRCh37]
Chr2:2q35
benign
GRCh37/hg19 2q35(chr2:216883237-220953003)x3 copy number gain not provided [RCV001007510] Chr2:216883237..220953003 [GRCh37]
Chr2:2q35
pathogenic
NM_005689.4(ABCB6):c.2000G>C (p.Gly667Ala) single nucleotide variant Microphthalmia, isolated, with coloboma 7 [RCV001171505] Chr2:219211077 [GRCh38]
Chr2:220075799 [GRCh37]
Chr2:2q35
uncertain significance
GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1 copy number loss not provided [RCV001259180] Chr2:215122019..220397907 [GRCh37]
Chr2:2q34-35
likely pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic
GRCh37/hg19 2q35(chr2:219797684-220088582)x3 copy number gain not provided [RCV001259184] Chr2:219797684..220088582 [GRCh37]
Chr2:2q35
uncertain significance
NM_005689.4(ABCB6):c.1663C>T (p.Gln555Ter) single nucleotide variant Dyschromatosis universalis hereditaria 3 [RCV001336858] Chr2:219213495 [GRCh38]
Chr2:220078217 [GRCh37]
Chr2:2q35
pathogenic
NM_005689.4(ABCB6):c.376del (p.Val126fs) deletion Dyschromatosis universalis hereditaria 3 [RCV001336859] Chr2:219218298 [GRCh38]
Chr2:220083020 [GRCh37]
Chr2:2q35
pathogenic
NM_005689.4(ABCB6):c.2215C>T (p.Arg739Cys) single nucleotide variant none provided [RCV001285428] Chr2:219210752 [GRCh38]
Chr2:220075474 [GRCh37]
Chr2:2q35
uncertain significance
NM_005689.4(ABCB6):c.459del (p.Trp154fs) deletion Dyschromatosis universalis hereditaria 3 [RCV001336860] Chr2:219218215 [GRCh38]
Chr2:220082937 [GRCh37]
Chr2:2q35
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:47 AgrOrtholog
COSMIC ABCB6 COSMIC
Ensembl Genes ENSG00000115657 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000265316 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000295750 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000392988 UniProtKB/TrEMBL
  ENSP00000401811 UniProtKB/TrEMBL
  ENSP00000404006 UniProtKB/TrEMBL
  ENSP00000414646 UniProtKB/TrEMBL
Ensembl Transcript ENST00000265316 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000295750 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000417678 UniProtKB/TrEMBL
  ENST00000443805 UniProtKB/TrEMBL
  ENST00000448398 UniProtKB/TrEMBL
  ENST00000452545 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1560.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000115657 GTEx
HGNC ID HGNC:47 ENTREZGENE
Human Proteome Map ABCB6 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_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MTABC_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Type_I_exporter UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10058 UniProtKB/Swiss-Prot
NCBI Gene 10058 ENTREZGENE
OMIM 111600 OMIM
  605452 OMIM
  609153 OMIM
  614497 OMIM
  615402 OMIM
PANTHER PTHR24221 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ABC_membrane UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_tran UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MTABC_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24388 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 SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF90123 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R436_HUMAN UniProtKB/TrEMBL
  A0A1D9ITY9_HUMAN UniProtKB/TrEMBL
  A0A6B9LUA1_HUMAN UniProtKB/TrEMBL
  A0A6B9LUM2_HUMAN UniProtKB/TrEMBL
  ABCB6_HUMAN UniProtKB/Swiss-Prot
  H7C049_HUMAN UniProtKB/TrEMBL
  H7C1R6_HUMAN UniProtKB/TrEMBL
  H7C245_HUMAN UniProtKB/TrEMBL
  H7C3Z0_HUMAN UniProtKB/TrEMBL
  Q9NP58 ENTREZGENE
  U3TD89_HUMAN UniProtKB/TrEMBL
  U3TGG4_HUMAN UniProtKB/TrEMBL
  U3THN0_HUMAN UniProtKB/TrEMBL
  U3THP2_HUMAN UniProtKB/TrEMBL
  U3TJJ6_HUMAN UniProtKB/TrEMBL
  U3TJK0_HUMAN UniProtKB/TrEMBL
UniProt Secondary O75542 UniProtKB/Swiss-Prot
  Q49A66 UniProtKB/Swiss-Prot
  Q59GQ5 UniProtKB/Swiss-Prot
  Q6ZME6 UniProtKB/Swiss-Prot
  Q96ME8 UniProtKB/Swiss-Prot
  Q9HAQ6 UniProtKB/Swiss-Prot
  Q9HAQ7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 ABCB6  ATP binding cassette subfamily B member 6 (Langereis blood group)    ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)  Symbol and/or name change 5135510 APPROVED
2014-09-04 ABCB6  ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)    ATP-binding cassette, sub-family B (MDR/TAP), member 6  Symbol and/or name change 5135510 APPROVED