ABCA2 (ATP binding cassette subfamily A member 2) - Rat Genome Database

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Gene: ABCA2 (ATP binding cassette subfamily A member 2) Homo sapiens
Analyze
Symbol: ABCA2
Name: ATP binding cassette subfamily A member 2
RGD ID: 732200
HGNC Page HGNC:32
Description: Enables ATP binding activity; ceramide floppase activity; and endopeptidase regulator activity. Involved in several processes, including ceramide translocation; lipid homeostasis; and regulation of cellular biosynthetic process. Acts upstream of with a positive effect on sphingosine biosynthetic process. Located in endosome membrane and lysosomal membrane. Is integral component of membrane. Is active in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ABC2; ATP-binding cassette 2; ATP-binding cassette sub-family A member 2; ATP-binding cassette transporter 2; ATP-binding cassette, sub-family A (ABC1), member 2; ATP-binding cassette, sub-family A, member 2; IDPOGSA; MGC129761
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
GRCh389137,007,234 - 137,028,922 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl9137,007,234 - 137,028,915 (-)EnsemblGRCh38hg38GRCh38
GRCh379139,901,686 - 139,923,374 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369139,021,507 - 139,043,195 (-)NCBINCBI36hg18NCBI36
Build 349137,177,522 - 137,199,211NCBI
Celera9110,414,121 - 110,431,191 (-)NCBI
Cytogenetic Map9q34.3NCBI
HuRef9109,360,841 - 109,382,226 (-)NCBIHuRef
CHM1_19140,050,436 - 140,072,137 (-)NCBICHM1_1
T2T-CHM13v2.09149,241,651 - 149,263,357 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
cellular sphingolipid homeostasis  (IDA)
central nervous system myelin formation  (ISS)
ceramide translocation  (IDA)
cholesterol homeostasis  (IEP)
ganglioside metabolic process  (ISS)
glycosphingolipid metabolic process  (ISS)
lipid metabolic process  (NAS)
lipid transport  (IBA,IEA)
locomotory behavior  (ISS)
negative regulation of cholesterol efflux  (IDA)
negative regulation of intracellular cholesterol transport  (IDA)
negative regulation of low-density lipoprotein receptor activity  (IDA)
negative regulation of phospholipid biosynthetic process  (IDA)
negative regulation of receptor-mediated endocytosis involved in cholesterol transport  (IDA)
negative regulation of sphingolipid biosynthetic process  (IDA)
negative regulation of steroid metabolic process  (ISS)
obsolete negative regulation of cholesterol esterification  (IDA,ISS)
obsolete regulation of cholesterol esterification  (IDA,IMP)
positive regulation of amyloid precursor protein biosynthetic process  (IDA)
positive regulation of amyloid precursor protein catabolic process  (IGI,IMP)
positive regulation of amyloid-beta formation  (IMP,ISS)
positive regulation of low-density lipoprotein particle receptor catabolic process  (IDA)
regulation of cholesterol biosynthetic process  (IDA)
regulation of endopeptidase activity  (IEA)
regulation of intracellular cholesterol transport  (IMP,ISS)
regulation of post-translational protein modification  (IMP)
regulation of protein glycosylation  (ISS)
regulation of protein localization to cell periphery  (ISS)
regulation of protein localization to cell surface  (ISS)
regulation of steroid metabolic process  (IDA)
regulation of transcription by RNA polymerase II  (IDA)
response to cholesterol  (IEP)
response to steroid hormone  (IEP)
response to xenobiotic stimulus  (TAS)
sphingomyelin metabolic process  (ISS)
sphingosine biosynthetic process  (IDA)
transmembrane transport  (IEA,NAS)
transport across blood-brain barrier  (NAS)

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Cloning of two novel ABC transporters mapping on human chromosome 9. Luciani MF, etal., Genomics 1994 May 1;21(1):150-9.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1538749   PMID:7766993   PMID:10470851   PMID:10639163   PMID:10970803   PMID:11178988   PMID:11309290   PMID:12107413   PMID:12363033   PMID:12421765   PMID:12477932   PMID:12560508  
PMID:15093135   PMID:15155565   PMID:15203218   PMID:15238223   PMID:15491607   PMID:15649702   PMID:15850583   PMID:15999530   PMID:16344560   PMID:16752360   PMID:17081983   PMID:18336955  
PMID:19343046   PMID:19913121   PMID:19946888   PMID:20167577   PMID:20628086   PMID:20704561   PMID:21041019   PMID:21072184   PMID:21078624   PMID:21707071   PMID:21810484   PMID:21873635  
PMID:22086926   PMID:22658674   PMID:23137377   PMID:24145140   PMID:24201375   PMID:25798074   PMID:26186194   PMID:26496610   PMID:26510981   PMID:26590417   PMID:28298427   PMID:28514442  
PMID:29224028   PMID:29229926   PMID:29630744   PMID:30280653   PMID:30575818   PMID:31586073   PMID:32409323   PMID:32752121   PMID:33961781  


Genomics

Comparative Map Data
ABCA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389137,007,234 - 137,028,922 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl9137,007,234 - 137,028,915 (-)EnsemblGRCh38hg38GRCh38
GRCh379139,901,686 - 139,923,374 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369139,021,507 - 139,043,195 (-)NCBINCBI36hg18NCBI36
Build 349137,177,522 - 137,199,211NCBI
Celera9110,414,121 - 110,431,191 (-)NCBI
Cytogenetic Map9q34.3NCBI
HuRef9109,360,841 - 109,382,226 (-)NCBIHuRef
CHM1_19140,050,436 - 140,072,137 (-)NCBICHM1_1
T2T-CHM13v2.09149,241,651 - 149,263,357 (-)NCBI
Abca2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39225,318,611 - 25,338,556 (+)NCBIGRCm39mm39
GRCm39 Ensembl225,318,715 - 25,338,552 (+)Ensembl
GRCm38225,428,599 - 25,448,544 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl225,428,703 - 25,448,540 (+)EnsemblGRCm38mm10GRCm38
MGSCv37225,284,194 - 25,304,059 (+)NCBIGRCm37mm9NCBIm37
MGSCv36225,250,779 - 25,270,208 (+)NCBImm8
Celera225,156,185 - 25,176,102 (+)NCBICelera
Cytogenetic Map2A3NCBI
cM Map217.25NCBI
Abca2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.238,244,515 - 8,264,545 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl38,244,639 - 8,264,537 (+)Ensembl
Rnor_6.032,648,787 - 2,668,770 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl32,648,885 - 2,668,809 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.032,630,237 - 2,650,183 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.433,595,423 - 3,615,328 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.133,595,422 - 3,615,327 (+)NCBI
Celera33,069,743 - 3,089,646 (+)NCBICelera
Cytogenetic Map3p13NCBI
Abca2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555135,033,771 - 5,051,200 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555135,035,879 - 5,051,140 (-)NCBIChiLan1.0ChiLan1.0
ABCA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.19137,039,264 - 137,057,527 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9137,036,696 - 137,057,776 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v09108,067,633 - 108,089,742 (-)NCBIMhudiblu_PPA_v0panPan3
ABCA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1948,610,906 - 48,630,932 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl948,613,996 - 48,629,857 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha947,824,500 - 47,844,585 (+)NCBI
ROS_Cfam_1.0949,488,905 - 49,509,018 (+)NCBI
UMICH_Zoey_3.1948,265,133 - 48,285,232 (+)NCBI
UNSW_CanFamBas_1.0948,563,850 - 48,583,927 (+)NCBI
UU_Cfam_GSD_1.0948,611,199 - 48,631,304 (+)NCBI
Abca2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947202,433,062 - 202,454,661 (-)NCBI
SpeTri2.0NW_004936669922,978 - 941,996 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABCA2
(Sus scrofa - pig)
No map positions available.
ABCA2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1121,161,340 - 1,183,807 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl121,162,865 - 1,183,113 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660584,118,329 - 4,134,713 (-)NCBIVero_WHO_p1.0
Abca2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624760880,148 - 898,751 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_004624760880,216 - 898,753 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH101989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379139,901,716 - 139,901,855UniSTSGRCh37
Build 369139,021,537 - 139,021,676RGDNCBI36
Celera9110,414,151 - 110,414,290RGD
Cytogenetic Map9q34UniSTS
HuRef9109,360,871 - 109,361,010UniSTS
GeneMap99-GB4 RH Map9419.53UniSTS
STS-X78031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379139,924,900 - 139,925,120UniSTSGRCh37
Build 369139,044,721 - 139,044,941RGDNCBI36
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9q34UniSTS
HuRef9109,383,752 - 109,383,972UniSTS
GeneMap99-GB4 RH Map9431.27UniSTS
RH71205  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379139,909,474 - 139,909,940UniSTSGRCh37
Celera9110,421,943 - 110,422,409UniSTS
Cytogenetic Map9q34UniSTS
HuRef9109,368,608 - 109,369,074UniSTS
GeneMap99-GB4 RH Map9419.53UniSTS
D11S949E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34UniSTS
UniSTS:481875  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372105,471,969 - 105,473,471UniSTSGRCh37
Celera299,673,184 - 99,674,686UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:14026
Count of miRNA genes:1347
Interacting mature miRNAs:1806
Transcripts:ENST00000265662, ENST00000341511, ENST00000371605, ENST00000398207, ENST00000425423, ENST00000431584, ENST00000437791, ENST00000448336, ENST00000459850, ENST00000463603, ENST00000464157, ENST00000464520, ENST00000464876, ENST00000466707, ENST00000467624, ENST00000470535, ENST00000476211, ENST00000479446, ENST00000487109, ENST00000488535, ENST00000490486, ENST00000492260, ENST00000494046
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 19
Medium 2314 2458 1494 415 1223 279 3376 1213 3675 277 1252 1502 147 1132 2054 2
Low 124 529 232 208 608 186 980 983 40 141 199 108 26 1 72 734 2 1
Below cutoff 1 4 1 111 1 8 2 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_212533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB028985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB177854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF178941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF327657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL525193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL807752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC090860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE273611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF516223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF983101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI195329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM314339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM474929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM921242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM921499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD612070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD676110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB168116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JF279959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JF279960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U18235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U18236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265662   ⟹   ENSP00000265662
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,007,234 - 137,028,288 (-)Ensembl
RefSeq Acc Id: ENST00000341511   ⟹   ENSP00000344155
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,007,234 - 137,028,237 (-)Ensembl
RefSeq Acc Id: ENST00000371605   ⟹   ENSP00000360666
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,007,234 - 137,028,288 (-)Ensembl
RefSeq Acc Id: ENST00000398207
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,021,781 - 137,028,873 (-)Ensembl
RefSeq Acc Id: ENST00000425423
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,023,813 - 137,028,807 (-)Ensembl
RefSeq Acc Id: ENST00000431584
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,011,477 - 137,012,949 (-)Ensembl
RefSeq Acc Id: ENST00000437791
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,009,407 - 137,010,384 (-)Ensembl
RefSeq Acc Id: ENST00000459850
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,007,377 - 137,028,915 (-)Ensembl
RefSeq Acc Id: ENST00000463603
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,009,351 - 137,011,016 (-)Ensembl
RefSeq Acc Id: ENST00000464157
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,008,236 - 137,008,788 (-)Ensembl
RefSeq Acc Id: ENST00000464520
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,007,657 - 137,009,183 (-)Ensembl
RefSeq Acc Id: ENST00000464876
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,019,426 - 137,028,178 (-)Ensembl
RefSeq Acc Id: ENST00000466707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,017,562 - 137,018,218 (-)Ensembl
RefSeq Acc Id: ENST00000467624
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,018,955 - 137,019,363 (-)Ensembl
RefSeq Acc Id: ENST00000470535   ⟹   ENSP00000420289
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,018,783 - 137,020,805 (-)Ensembl
RefSeq Acc Id: ENST00000476211
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,021,667 - 137,028,877 (-)Ensembl
RefSeq Acc Id: ENST00000479446   ⟹   ENSP00000420084
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,007,242 - 137,018,219 (-)Ensembl
RefSeq Acc Id: ENST00000487109   ⟹   ENSP00000418662
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,007,377 - 137,028,915 (-)Ensembl
RefSeq Acc Id: ENST00000488535   ⟹   ENSP00000419850
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,012,325 - 137,018,211 (-)Ensembl
RefSeq Acc Id: ENST00000490486   ⟹   ENSP00000420360
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,007,851 - 137,009,578 (-)Ensembl
RefSeq Acc Id: ENST00000492260
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,018,212 - 137,028,171 (-)Ensembl
RefSeq Acc Id: ENST00000494046
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,020,183 - 137,028,184 (-)Ensembl
RefSeq Acc Id: ENST00000614293   ⟹   ENSP00000481105
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,007,234 - 137,028,878 (-)Ensembl
RefSeq Acc Id: ENST00000625103   ⟹   ENSP00000485459
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9137,022,941 - 137,028,878 (-)Ensembl
RefSeq Acc Id: NM_001606   ⟹   NP_001597
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,007,234 - 137,028,237 (-)NCBI
GRCh379139,901,686 - 139,923,374 (-)ENTREZGENE
Build 369139,021,507 - 139,042,561 (-)NCBI Archive
HuRef9109,360,841 - 109,382,226 (-)ENTREZGENE
CHM1_19140,050,436 - 140,071,503 (-)NCBI
T2T-CHM13v2.09149,241,651 - 149,262,672 (-)NCBI
Sequence:
RefSeq Acc Id: NM_212533   ⟹   NP_997698
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,007,234 - 137,028,922 (-)NCBI
GRCh379139,901,686 - 139,923,374 (-)ENTREZGENE
Build 369139,021,507 - 139,043,195 (-)NCBI Archive
HuRef9109,360,841 - 109,382,226 (-)ENTREZGENE
CHM1_19140,050,436 - 140,072,137 (-)NCBI
T2T-CHM13v2.09149,241,651 - 149,263,357 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716996   ⟹   XP_006717059
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,007,234 - 137,028,237 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047422921   ⟹   XP_047278877
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,007,234 - 137,028,922 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_997698   ⟸   NM_212533
- Peptide Label: isoform b
- UniProtKB: Q9BZC7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001597   ⟸   NM_001606
- Peptide Label: isoform a
- UniProtKB: Q9BZC7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006717059   ⟸   XM_006716996
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000360666   ⟸   ENST00000371605
RefSeq Acc Id: ENSP00000420084   ⟸   ENST00000479446
RefSeq Acc Id: ENSP00000420360   ⟸   ENST00000490486
RefSeq Acc Id: ENSP00000485459   ⟸   ENST00000625103
RefSeq Acc Id: ENSP00000481105   ⟸   ENST00000614293
RefSeq Acc Id: ENSP00000420289   ⟸   ENST00000470535
RefSeq Acc Id: ENSP00000418662   ⟸   ENST00000487109
RefSeq Acc Id: ENSP00000344155   ⟸   ENST00000341511
RefSeq Acc Id: ENSP00000419850   ⟸   ENST00000488535
RefSeq Acc Id: ENSP00000265662   ⟸   ENST00000265662
RefSeq Acc Id: XP_047278877   ⟸   XM_047422921
- Peptide Label: isoform X1
Protein Domains
ABC transporter   ATPase_AAA_core

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BZC7-F1-model_v2 AlphaFold Q9BZC7 1-2435 view protein structure

Promoters
RGD ID:7216745
Promoter ID:EPDNEW_H14118
Type:initiation region
Name:ABCA2_3
Description:ATP binding cassette subfamily A member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14119  EPDNEW_H14120  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,008,829 - 137,008,889EPDNEW
RGD ID:7216747
Promoter ID:EPDNEW_H14119
Type:initiation region
Name:ABCA2_2
Description:ATP binding cassette subfamily A member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14118  EPDNEW_H14120  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,018,202 - 137,018,262EPDNEW
RGD ID:7216749
Promoter ID:EPDNEW_H14120
Type:initiation region
Name:ABCA2_1
Description:ATP binding cassette subfamily A member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14118  EPDNEW_H14119  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,028,914 - 137,028,974EPDNEW
RGD ID:6807499
Promoter ID:HG_KWN:65682
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   NB4
Transcripts:ENST00000398210
Position:
Human AssemblyChrPosition (strand)Source
Build 369139,028,146 - 139,028,646 (-)MPROMDB
RGD ID:6807196
Promoter ID:HG_KWN:65685
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:UC004CKO.1,   UC010NCA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 369139,037,616 - 139,038,116 (-)MPROMDB
RGD ID:6807208
Promoter ID:HG_KWN:65687
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:ENST00000265662,   ENST00000341511,   ENST00000355090,   ENST00000371605,   ENST00000398207,   NM_001606,   NM_212533,   OTTHUMT00000055198,   OTTHUMT00000055200,   OTTHUMT00000055209,   OTTHUMT00000055210,   OTTHUMT00000055212,   UC004CKL.1,   UC004CKM.1,   UC010NBY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 369139,042,361 - 139,043,717 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 copy number loss See cases [RCV000050344] Chr9:136323974..138014606 [GRCh38]
Chr9:139218428..140909058 [GRCh37]
Chr9:138338249..140028879 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1 copy number loss See cases [RCV000051116] Chr9:136323974..138124532 [GRCh38]
Chr9:139218428..141018984 [GRCh37]
Chr9:138338249..140138805 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1 copy number loss See cases [RCV000052937] Chr9:135452016..137613738 [GRCh38]
Chr9:138343862..140508190 [GRCh37]
Chr9:137483683..139628011 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1 copy number loss See cases [RCV000052936] Chr9:134428674..138154922 [GRCh38]
Chr9:137320520..141049374 [GRCh37]
Chr9:136460341..140169195 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136015976-138124532)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|See cases [RCV000052938] Chr9:136015976..138124532 [GRCh38]
Chr9:138907822..141018984 [GRCh37]
Chr9:138047643..140138805 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1 copy number loss See cases [RCV000052940] Chr9:136926575..138114463 [GRCh38]
Chr9:139821027..141008915 [GRCh37]
Chr9:138940848..140128736 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3 copy number gain See cases [RCV000053814] Chr9:134174698..138138735 [GRCh38]
Chr9:137091194..141033187 [GRCh37]
Chr9:136029641..140153008 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
NM_212533.2(ABCA2):c.3135C>T (p.Leu1045=) single nucleotide variant Malignant melanoma [RCV000068596] Chr9:137016350 [GRCh38]
Chr9:139910802 [GRCh37]
Chr9:139030623 [NCBI36]
Chr9:9q34.3
not provided
Single allele deletion Epilepsy [RCV001293379] Chr9:139764148..141066491 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 copy number gain See cases [RCV000133778] Chr9:130513207..138124532 [GRCh38]
Chr9:133388594..141018984 [GRCh37]
Chr9:132378415..140138805 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 copy number gain See cases [RCV000134916] Chr9:129068560..138179445 [GRCh38]
Chr9:131830839..141073897 [GRCh37]
Chr9:130870660..140193718 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3 copy number gain See cases [RCV000136790] Chr9:132986903..138114463 [GRCh38]
Chr9:135862290..141008915 [GRCh37]
Chr9:134852111..140128736 [NCBI36]
Chr9:9q34.13-34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3 copy number gain See cases [RCV000137825] Chr9:133504071..138159073 [GRCh38]
Chr9:136324358..141053525 [GRCh37]
Chr9:135314179..140173346 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3 copy number gain See cases [RCV000139807] Chr9:133996227..138124524 [GRCh38]
Chr9:136861349..141018976 [GRCh37]
Chr9:135851170..140138797 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137025210-137048081)x3 copy number gain See cases [RCV000140784] Chr9:137025210..137048081 [GRCh38]
Chr9:139919662..139942533 [GRCh37]
Chr9:139039483..139062354 [NCBI36]
Chr9:9q34.3
benign
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3 copy number gain See cases [RCV000142955] Chr9:133918071..138159073 [GRCh38]
Chr9:136783193..141053525 [GRCh37]
Chr9:135773014..140173346 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1 copy number loss See cases [RCV000142978] Chr9:136877772..138124524 [GRCh38]
Chr9:139772224..141018976 [GRCh37]
Chr9:138892045..140138797 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3 copy number gain See cases [RCV000142636] Chr9:132386553..138059695 [GRCh38]
Chr9:135261940..140954147 [GRCh37]
Chr9:134251761..140073968 [NCBI36]
Chr9:9q34.13-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4 copy number gain See cases [RCV000143394] Chr9:135704780..138125937 [GRCh38]
Chr9:138596626..141020389 [GRCh37]
Chr9:137736447..140140210 [NCBI36]
Chr9:9q34.3
likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 copy number loss See cases [RCV000148284] Chr9:136323974..138014606 [GRCh38]
Chr9:139218428..140909058 [GRCh37]
Chr9:138338249..140028879 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_001606.5(ABCA2):c.4281C>A (p.Ser1427Arg) single nucleotide variant ABCA2-related condition [RCV000626004] Chr9:137013998 [GRCh38]
Chr9:139908450 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001606.5(ABCA2):c.7275+82C>G single nucleotide variant Intellectual developmental disorder with poor growth and with or without seizures or ataxia [RCV001544134] Chr9:137008334 [GRCh38]
Chr9:139902786 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.4550+71A>G single nucleotide variant Intellectual developmental disorder with poor growth and with or without seizures or ataxia [RCV001544137] Chr9:137013390 [GRCh38]
Chr9:139907842 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.7275+156T>C single nucleotide variant Intellectual developmental disorder with poor growth and with or without seizures or ataxia [RCV001544496] Chr9:137008260 [GRCh38]
Chr9:139902712 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.5265C>G (p.Asn1755Lys) single nucleotide variant not provided [RCV001564465] Chr9:137012299 [GRCh38]
Chr9:139906751 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:139835558-139983339)x3 copy number gain not provided [RCV000753228] Chr9:139835558..139983339 [GRCh37]
Chr9:9q34.3
benign
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:138222049-141018925)x1 copy number loss See cases [RCV000446074] Chr9:138222049..141018925 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:139282807-141020389)x1 copy number loss See cases [RCV000448743] Chr9:139282807..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:138209358-141020389)x1 copy number loss See cases [RCV000510584] Chr9:138209358..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3 copy number gain See cases [RCV000511188] Chr9:138275621..141020389 [GRCh37]
Chr9:9q34.3
likely pathogenic
GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1 copy number loss mTOR Inhibitor response [RCV000626442] Chr9:135377559..141213431 [GRCh37]
Chr9:9q34.13-34.3
drug response
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
NM_001606.5(ABCA2):c.1193C>A (p.Thr398Lys) single nucleotide variant ABCA2-related condition [RCV000626005]|not provided [RCV000907194] Chr9:137020766 [GRCh38]
Chr9:139915218 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3 copy number gain not provided [RCV000683160] Chr9:135105971..141020389 [GRCh37]
Chr9:9q34.13-34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:139754427-140088630)x3 copy number gain not provided [RCV000753226] Chr9:139754427..140088630 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.7275+71G>C single nucleotide variant Intellectual developmental disorder with poor growth and with or without seizures or ataxia [RCV001544135] Chr9:137008345 [GRCh38]
Chr9:139902797 [GRCh37]
Chr9:9q34.3
benign
GRCh37/hg19 9q34.3(chr9:139754431-140088630)x3 copy number gain not provided [RCV000753227] Chr9:139754431..140088630 [GRCh37]
Chr9:9q34.3
benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:137816459-141114095)x1 copy number loss not provided [RCV000748787] Chr9:137816459..141114095 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001606.5(ABCA2):c.1953C>T (p.Gly651=) single nucleotide variant not provided [RCV000896649] Chr9:137018218 [GRCh38]
Chr9:139912670 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.1195C>T (p.Leu399=) single nucleotide variant not provided [RCV000896651] Chr9:137020764 [GRCh38]
Chr9:139915216 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.2037T>C (p.Asp679=) single nucleotide variant Intellectual developmental disorder with poor growth and with or without seizures or ataxia [RCV001544142] Chr9:137018032 [GRCh38]
Chr9:139912484 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.5134G>A (p.Gly1712Ser) single nucleotide variant not provided [RCV001573793] Chr9:137012538 [GRCh38]
Chr9:139906990 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_001606.5(ABCA2):c.5360+41A>G single nucleotide variant Intellectual developmental disorder with poor growth and with or without seizures or ataxia [RCV001544136] Chr9:137012061 [GRCh38]
Chr9:139906513 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.4448-124T>C single nucleotide variant Intellectual developmental disorder with poor growth and with or without seizures or ataxia [RCV001544138] Chr9:137013687 [GRCh38]
Chr9:139908139 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.*167T>C single nucleotide variant Intellectual developmental disorder with poor growth and with or without seizures or ataxia [RCV001544495] Chr9:137007762 [GRCh38]
Chr9:139902214 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.5754C>T (p.Thr1918=) single nucleotide variant not provided [RCV000905542] Chr9:137011452 [GRCh38]
Chr9:139905904 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.3645C>T (p.Asp1215=) single nucleotide variant not provided [RCV000965716] Chr9:137015466 [GRCh38]
Chr9:139909918 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_001606.5(ABCA2):c.3213G>A (p.Pro1071=) single nucleotide variant not provided [RCV000898118] Chr9:137016066 [GRCh38]
Chr9:139910518 [GRCh37]
Chr9:9q34.3
likely benign
NM_001606.5(ABCA2):c.1233C>T (p.Ala411=) single nucleotide variant not provided [RCV000915402] Chr9:137020726 [GRCh38]
Chr9:139915178 [GRCh37]
Chr9:9q34.3
likely benign
NM_001606.5(ABCA2):c.2586C>T (p.Gly862=) single nucleotide variant not provided [RCV000900246] Chr9:137017092 [GRCh38]
Chr9:139911544 [GRCh37]
Chr9:9q34.3
likely benign
NM_001606.5(ABCA2):c.3750C>T (p.Ser1250=) single nucleotide variant not provided [RCV000981532] Chr9:137015045 [GRCh38]
Chr9:139909497 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.470G>C (p.Arg157Thr) single nucleotide variant not provided [RCV000921185] Chr9:137022448 [GRCh38]
Chr9:139916900 [GRCh37]
Chr9:9q34.3
likely benign
NM_001606.5(ABCA2):c.4903del (p.Val1635fs) deletion Ataxia with Dysarthria [RCV000790425]|not provided [RCV001027881] Chr9:137012890 [GRCh38]
Chr9:139907342 [GRCh37]
Chr9:9q34.3
pathogenic|uncertain significance
NM_001606.5(ABCA2):c.5787C>T (p.Phe1929=) single nucleotide variant not provided [RCV000920718] Chr9:137011419 [GRCh38]
Chr9:139905871 [GRCh37]
Chr9:9q34.3
likely benign
NM_001606.5(ABCA2):c.3552G>A (p.Glu1184=) single nucleotide variant not provided [RCV000969571] Chr9:137015559 [GRCh38]
Chr9:139910011 [GRCh37]
Chr9:9q34.3
benign
NM_212533.3(ABCA2):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV000967148] Chr9:137028872 [GRCh38]
Chr9:139923324 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.6309C>T (p.Gly2103=) single nucleotide variant not provided [RCV000921183] Chr9:137010237 [GRCh38]
Chr9:139904689 [GRCh37]
Chr9:9q34.3
likely benign
NM_001606.5(ABCA2):c.4267G>T (p.Val1423Phe) single nucleotide variant not provided [RCV000971560] Chr9:137014012 [GRCh38]
Chr9:139908464 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.1265+10C>T single nucleotide variant not provided [RCV000896650] Chr9:137020684 [GRCh38]
Chr9:139915136 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.3660G>A (p.Thr1220=) single nucleotide variant not provided [RCV000939095] Chr9:137015451 [GRCh38]
Chr9:139909903 [GRCh37]
Chr9:9q34.3
likely benign
NM_001606.5(ABCA2):c.3075C>T (p.Gly1025=) single nucleotide variant not provided [RCV000970208] Chr9:137016320 [GRCh38]
Chr9:139910772 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.3399C>T (p.Ser1133=) single nucleotide variant not provided [RCV000941179] Chr9:137015790 [GRCh38]
Chr9:139910242 [GRCh37]
Chr9:9q34.3
likely benign
GRCh37/hg19 9q34.3(chr9:139766260-140186072)x3 copy number gain not provided [RCV000848688] Chr9:139766260..140186072 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3
pathogenic
NM_001606.5(ABCA2):c.4537_4547delinsG (p.Arg1513fs) indel Intellectual developmental disorder with poor growth and with or without seizures or ataxia [RCV001027880] Chr9:137013464..137013474 [GRCh38]
Chr9:139907916..139907926 [GRCh37]
Chr9:9q34.3
pathogenic
NM_001606.5(ABCA2):c.937C>T (p.Gln313Ter) single nucleotide variant Intellectual developmental disorder with poor growth and with or without seizures or ataxia [RCV001027878] Chr9:137021022 [GRCh38]
Chr9:139915474 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001606.5(ABCA2):c.4447+19A>G single nucleotide variant Intellectual developmental disorder with poor growth and with or without seizures or ataxia [RCV001544139]|not provided [RCV001647399] Chr9:137013813 [GRCh38]
Chr9:139908265 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.4213C>T (p.Gln1405Ter) single nucleotide variant not provided [RCV001532188] Chr9:137014195 [GRCh38]
Chr9:139908647 [GRCh37]
Chr9:9q34.3
pathogenic
NM_001606.5(ABCA2):c.4128G>A (p.Ala1376=) single nucleotide variant not provided [RCV000930228] Chr9:137014280 [GRCh38]
Chr9:139908732 [GRCh37]
Chr9:9q34.3
likely benign
NM_001606.5(ABCA2):c.4003+7G>A single nucleotide variant not provided [RCV000888742] Chr9:137014683 [GRCh38]
Chr9:139909135 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.725C>T (p.Pro242Leu) single nucleotide variant not provided [RCV000886008] Chr9:137021564 [GRCh38]
Chr9:139916016 [GRCh37]
Chr9:9q34.3
likely benign
NM_001606.5(ABCA2):c.2598C>T (p.Phe866=) single nucleotide variant not provided [RCV000886597] Chr9:137017080 [GRCh38]
Chr9:139911532 [GRCh37]
Chr9:9q34.3
likely benign
NM_001606.5(ABCA2):c.6340G>A (p.Val2114Ile) single nucleotide variant not provided [RCV000916560] Chr9:137010206 [GRCh38]
Chr9:139904658 [GRCh37]
Chr9:9q34.3
likely benign
NM_001606.5(ABCA2):c.2538C>T (p.Phe846=) single nucleotide variant not provided [RCV000963659] Chr9:137017211 [GRCh38]
Chr9:139911663 [GRCh37]
Chr9:9q34.3
likely benign
NM_001606.5(ABCA2):c.1263C>T (p.Asn421=) single nucleotide variant not provided [RCV000970209] Chr9:137020696 [GRCh38]
Chr9:139915148 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.5652-10C>T single nucleotide variant not provided [RCV000881761] Chr9:137011564 [GRCh38]
Chr9:139906016 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.4683C>T (p.Ser1561=) single nucleotide variant not provided [RCV000919329] Chr9:137013186 [GRCh38]
Chr9:139907638 [GRCh37]
Chr9:9q34.3
likely benign
NM_001606.5(ABCA2):c.3984G>A (p.Ser1328=) single nucleotide variant not provided [RCV000921184] Chr9:137014709 [GRCh38]
Chr9:139909161 [GRCh37]
Chr9:9q34.3
likely benign
NM_001606.5(ABCA2):c.6931-7C>T single nucleotide variant not provided [RCV000962396] Chr9:137008875 [GRCh38]
Chr9:139903327 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.6828-3del deletion not provided [RCV000911675] Chr9:137009056 [GRCh38]
Chr9:139903508 [GRCh37]
Chr9:9q34.3
likely benign
NM_001606.5(ABCA2):c.5949G>T (p.Pro1983=) single nucleotide variant not provided [RCV000913823] Chr9:137011080 [GRCh38]
Chr9:139905532 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.282G>A (p.Thr94=) single nucleotide variant not provided [RCV000911801] Chr9:137022859 [GRCh38]
Chr9:139917311 [GRCh37]
Chr9:9q34.3
likely benign
NM_001606.5(ABCA2):c.5430C>T (p.Phe1810=) single nucleotide variant not provided [RCV000956780] Chr9:137011949 [GRCh38]
Chr9:139906401 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.2553+10G>A single nucleotide variant not provided [RCV000956781] Chr9:137017186 [GRCh38]
Chr9:139911638 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.1091C>T (p.Ala364Val) single nucleotide variant not provided [RCV000956782] Chr9:137020868 [GRCh38]
Chr9:139915320 [GRCh37]
Chr9:9q34.3
benign
NM_212533.3(ABCA2):c.60T>C (p.Ala20_His21=) single nucleotide variant not provided [RCV001656777] Chr9:137028813 [GRCh38]
Chr9:139923265 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.3105-22A>G single nucleotide variant Intellectual developmental disorder with poor growth and with or without seizures or ataxia [RCV001544140] Chr9:137016196 [GRCh38]
Chr9:139910648 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.2212-34C>T single nucleotide variant Intellectual developmental disorder with poor growth and with or without seizures or ataxia [RCV001544141] Chr9:137017726 [GRCh38]
Chr9:139912178 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.650dup (p.Gly218fs) duplication Intellectual developmental disorder with poor growth and with or without seizures or ataxia [RCV001027879] Chr9:137021918..137021919 [GRCh38]
Chr9:139916370..139916371 [GRCh37]
Chr9:9q34.3
pathogenic
NC_000009.11:g.(?_138594085)_(140062314_?)dup duplication Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001033771] Chr9:138594085..140062314 [GRCh37]
Chr9:9q34.3
uncertain significance
NC_000009.11:g.(?_138645763)_(140729425_?)del deletion Developmental and epileptic encephalopathy, 14 [RCV001362982]|Intellectual disability, autosomal dominant 8 [RCV001352031]|Kleefstra syndrome 1 [RCV001031921] Chr9:138645763..140729425 [GRCh37]
Chr9:9q34.3
pathogenic|uncertain significance
GRCh37/hg19 9q34.3(chr9:138225001-141015001) copy number loss Microcephaly [RCV001252947] Chr9:138225001..141015001 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:139776707-140234193)x3 copy number gain not provided [RCV001259536] Chr9:139776707..140234193 [GRCh37]
Chr9:9q34.3
uncertain significance
NC_000009.11:g.(?_139018777)_(141018984_?)del deletion Kleefstra syndrome 1 [RCV001267844] Chr9:139018777..141018984 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:139284464-141018984) copy number loss Cryptorchidism [RCV001352666] Chr9:139284464..141018984 [GRCh37]
Chr9:9q34.3
pathogenic
NM_001606.5(ABCA2):c.2890G>A (p.Asp964Asn) single nucleotide variant not provided [RCV001338542] Chr9:137016607 [GRCh38]
Chr9:139911059 [GRCh37]
Chr9:9q34.3
uncertain significance
NC_000009.11:g.(?_139258557)_(140003427_?)del deletion Predisposition to invasive fungal disease due to CARD9 deficiency [RCV001380370] Chr9:139258557..140003427 [GRCh37]
Chr9:9q34.3
pathogenic
NM_001606.5(ABCA2):c.746G>A (p.Arg249Gln) single nucleotide variant not provided [RCV001322944] Chr9:137021543 [GRCh38]
Chr9:139915995 [GRCh37]
Chr9:9q34.3
uncertain significance
NC_000009.11:g.(?_138594085)_(140062314_?)dup duplication Developmental and epileptic encephalopathy, 14 [RCV001305481]|Intellectual disability, autosomal dominant 8 [RCV001033771] Chr9:138594085..140062314 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_001606.5(ABCA2):c.6690T>C (p.Leu2230=) single nucleotide variant Intellectual developmental disorder with poor growth and with or without seizures or ataxia [RCV001420691] Chr9:137009585 [GRCh38]
Chr9:139904037 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.5472C>T (p.His1824=) single nucleotide variant Intellectual developmental disorder with poor growth and with or without seizures or ataxia [RCV001420692] Chr9:137011907 [GRCh38]
Chr9:139906359 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.1320G>A (p.Thr440=) single nucleotide variant not provided [RCV001727495] Chr9:137020441 [GRCh38]
Chr9:139914893 [GRCh37]
Chr9:9q34.3
likely benign
NM_001606.5(ABCA2):c.5026G>A (p.Gly1676Ser) single nucleotide variant Intellectual developmental disorder with poor growth and with or without seizures or ataxia [RCV001784089] Chr9:137012767 [GRCh38]
Chr9:139907219 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_212533.3(ABCA2):c.96del (p.Phe33fs) deletion not provided [RCV001756995] Chr9:137028777 [GRCh38]
Chr9:139923229 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_001606.5(ABCA2):c.568-19_568-18insCCCCATCTGAGCCACAC insertion not provided [RCV001787543] Chr9:137022019..137022020 [GRCh38]
Chr9:139916471..139916472 [GRCh37]
Chr9:9q34.3
benign
NM_001606.5(ABCA2):c.1147G>A (p.Ala383Thr) single nucleotide variant not specified [RCV001733788] Chr9:137020812 [GRCh38]
Chr9:139915264 [GRCh37]
Chr9:9q34.3
likely benign
NM_001606.5(ABCA2):c.1703G>A (p.Trp568Ter) single nucleotide variant not provided [RCV001774640] Chr9:137018922 [GRCh38]
Chr9:139913374 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_001606.5(ABCA2):c.5701C>T (p.Pro1901Ser) single nucleotide variant not provided [RCV001758213] Chr9:137011505 [GRCh38]
Chr9:139905957 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_001606.5(ABCA2):c.6940C>T (p.His2314Tyr) single nucleotide variant not provided [RCV001816523] Chr9:137008859 [GRCh38]
Chr9:139903311 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_001606.5(ABCA2):c.4545G>A (p.Glu1515=) single nucleotide variant not provided [RCV001815979] Chr9:137013466 [GRCh38]
Chr9:139907918 [GRCh37]
Chr9:9q34.3
likely benign
NM_001606.5(ABCA2):c.1625G>C (p.Arg542Thr) single nucleotide variant not provided [RCV001814793] Chr9:137019000 [GRCh38]
Chr9:139913452 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_001606.5(ABCA2):c.6421G>A (p.Asp2141Asn) single nucleotide variant Intellectual developmental disorder with poor growth and with or without seizures or ataxia [RCV001802332] Chr9:137010057 [GRCh38]
Chr9:139904509 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_001606.5(ABCA2):c.3479G>A (p.Arg1160His) single nucleotide variant Intellectual developmental disorder with poor growth and with or without seizures or ataxia [RCV001802525] Chr9:137015710 [GRCh38]
Chr9:139910162 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:139282807-141020389) copy number loss not specified [RCV002052852] Chr9:139282807..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:139563039-140310033) copy number loss not specified [RCV002052853] Chr9:139563039..140310033 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:138740078-141020389) copy number loss not specified [RCV002052850] Chr9:138740078..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
NM_001606.5(ABCA2):c.6034T>C (p.Tyr2012His) single nucleotide variant Intellectual developmental disorder with poor growth and with or without seizures or ataxia [RCV001837198] Chr9:137010995 [GRCh38]
Chr9:139905447 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_001606.5(ABCA2):c.5800-16C>G single nucleotide variant not provided [RCV002223386] Chr9:137011325 [GRCh38]
Chr9:139905777 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_001606.5(ABCA2):c.5298C>T (p.Tyr1766=) single nucleotide variant not provided [RCV002223387] Chr9:137012266 [GRCh38]
Chr9:139906718 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_001606.5(ABCA2):c.4108C>T (p.Gln1370Ter) single nucleotide variant Intellectual developmental disorder with poor growth and with or without seizures or ataxia [RCV002071017] Chr9:137014300 [GRCh38]
Chr9:139908752 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_001606.5(ABCA2):c.2602C>T (p.Leu868=) single nucleotide variant not provided [RCV002214502] Chr9:137017076 [GRCh38]
Chr9:139911528 [GRCh37]
Chr9:9q34.3
likely benign
NM_001606.5(ABCA2):c.2601G>T (p.Ala867=) single nucleotide variant not provided [RCV002214503] Chr9:137017077 [GRCh38]
Chr9:139911529 [GRCh37]
Chr9:9q34.3
likely benign
NM_001606.5(ABCA2):c.4990C>T (p.Arg1664Trp) single nucleotide variant Intellectual developmental disorder with poor growth and with or without seizures or ataxia [RCV002244098] Chr9:137012803 [GRCh38]
Chr9:139907255 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_001606.5(ABCA2):c.5017G>A (p.Asp1673Asn) single nucleotide variant Intellectual developmental disorder with poor growth and with or without seizures or ataxia [RCV002244099] Chr9:137012776 [GRCh38]
Chr9:139907228 [GRCh37]
Chr9:9q34.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:32 AgrOrtholog
COSMIC ABCA2 COSMIC
Ensembl Genes ENSG00000107331 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000344155 ENTREZGENE
  ENSP00000344155.6 UniProtKB/Swiss-Prot
  ENSP00000360666 ENTREZGENE
  ENSP00000360666.3 UniProtKB/Swiss-Prot
  ENSP00000418662.1 UniProtKB/TrEMBL
  ENSP00000419850.1 UniProtKB/TrEMBL
  ENSP00000420084.1 UniProtKB/TrEMBL
  ENSP00000420289.2 UniProtKB/TrEMBL
  ENSP00000420360.1 UniProtKB/TrEMBL
  ENSP00000481105 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000481105.2 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000341511 ENTREZGENE
  ENST00000341511.11 UniProtKB/Swiss-Prot
  ENST00000371605 ENTREZGENE
  ENST00000371605.7 UniProtKB/Swiss-Prot
  ENST00000459850 ENTREZGENE
  ENST00000470535.2 UniProtKB/TrEMBL
  ENST00000479446.5 UniProtKB/TrEMBL
  ENST00000487109.5 UniProtKB/TrEMBL
  ENST00000488535.2 UniProtKB/TrEMBL
  ENST00000490486.2 UniProtKB/TrEMBL
  ENST00000614293 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000614293.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000107331 GTEx
HGNC ID HGNC:32 ENTREZGENE
Human Proteome Map ABCA2 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABCA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABCA2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_AAA_core UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:20 UniProtKB/Swiss-Prot
NCBI Gene 20 ENTREZGENE
OMIM 600047 OMIM
  618808 OMIM
PANTHER PTHR19229 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR19229:SF225 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AAA_21 UniProtKB/TrEMBL
  ABC_tran UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24377 PharmGKB
PROSITE 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
UniProt A0A087WXK5_HUMAN UniProtKB/TrEMBL
  ABCA2_HUMAN UniProtKB/Swiss-Prot
  E9PGB2_HUMAN UniProtKB/TrEMBL
  H0Y8C9_HUMAN UniProtKB/TrEMBL
  H0Y8D6_HUMAN UniProtKB/TrEMBL
  H0Y8E3_HUMAN UniProtKB/TrEMBL
  H7C5M6_HUMAN UniProtKB/TrEMBL
  Q08EJ9_HUMAN UniProtKB/TrEMBL
  Q13039_HUMAN UniProtKB/TrEMBL
  Q6P2G5_HUMAN UniProtKB/TrEMBL
  Q96HC2_HUMAN UniProtKB/TrEMBL
  Q9BZC7 ENTREZGENE
UniProt Secondary A6NED5 UniProtKB/Swiss-Prot
  Q5SPY5 UniProtKB/Swiss-Prot
  Q5W9G5 UniProtKB/Swiss-Prot
  Q76MW7 UniProtKB/Swiss-Prot
  Q9HC28 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 ABCA2  ATP binding cassette subfamily A member 2    ATP-binding cassette, sub-family A (ABC1), member 2  Symbol and/or name change 5135510 APPROVED
2011-08-17 ABCA2  ATP-binding cassette, sub-family A (ABC1), member 2  ABCA2  ATP-binding cassette, sub-family A (ABC1), member 2  Symbol and/or name change 5135510 APPROVED