• Gene id: 20

Gene Summary

• Gene Symbol: ABCA2   Gene   UCSC   Ensembl
• Aliases: ABC2, IDPOGSA
• Gene name: ATP binding cassette subfamily A member 2
• Alternate names: ATP-binding cassette sub-family A member 2, ATP-binding cassette 2, ATP-binding cassette transporter 2, ATP-binding cassette, sub-family A (ABC1), member 2, ATP-binding cassette, sub-family A, member 2,
• Gene location: 9q34.3 (137028921: 137007233)     Exons: 49     NC_000009.12
• Gene summary(Entrez): The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct s
• OMIM: 125290

SNPs

rs9340978

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.152012810G>A
NC_000006.11   g.152333945G>A
NG_008493.2   g.361120G>A|SEQ=[G/A]|GENE=ESR1

rs9340958

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.152009538C>T
NC_000006.11   g.152330673C>T
NG_008493.2   g.357848C>T|SEQ=[C/T]|GENE=ESR1

rs2077647

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.151807942T>A
NC_000006.12   g.151807942T>C
NC_000006.11   g.152129077T>A
NC_000006.11   g.152129077T>C
NG_008493.2   g.156252T>A
NG_008493.2   g.156252T>C
NM_000125.4   c.30T>A
NM_000125.4   c.30T>C
NM_000125.3   c.30T>A
NM_000125.3   c.30T>C
NM_0011227  

rs2070923

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11275998G>C
NC_000016.10   g.11275998G>T
NC_000016.9   g.11369855G>C
NC_000016.9   g.11369855G>T|SEQ=[G/C/T]|GENE=PRM2
LOC105371082   105371082

rs1646022

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11276073C>G
NC_000016.10   g.11276073C>T
NC_000016.9   g.11369930C>G
NC_000016.9   g.11369930C>T
NM_001286359.1   c.298G>C
NM_001286359.1   c.298G>A
NM_001286359.2   c.298G>C
NM_001286359.2   c.298G>A
NP_001273288.1   p.Ala100Pro
NP_001273288.1   p.Ala1

rs9397080

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.152059380C>T
NC_000006.11   g.152380515C>T
NG_008493.2   g.407690C>T|SEQ=[C/T]|GENE=ESR1

rs3798577

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.152099995T>C
NC_000006.11   g.152421130T>C
NG_008493.2   g.448305T>C
NM_000125.4   c.*1029T>C
NM_000125.3   c.*1029T>C
NM_001122742.1   c.*1029T>C
NM_001122740.1   c.*1029T>C
NM_001291230.1   c.*1029T>C
NM_001122741.1   c.*1029T>C
NM_001291241.1   c.*10

rs1643821

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.151862416G>A
NC_000006.11   g.152183551G>A
NG_008493.2   g.210726G>A|SEQ=[G/A]|GENE=ESR1

rs11155819

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.151878224T>C
NC_000006.11   g.152199359T>C
NG_008493.2   g.226534T>C|SEQ=[T/C]|GENE=ESR1

rs1884052

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.151970231G>C
NC_000006.12   g.151970231G>T
NC_000006.11   g.152291366G>C
NC_000006.11   g.152291366G>T
NG_008493.2   g.318541G>C
NG_008493.2   g.318541G>T|SEQ=[G/C/T]|GENE=ESR1

rs3020328

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.151984370C>A
NC_000006.12   g.151984370C>T
NC_000006.11   g.152305505C>A
NC_000006.11   g.152305505C>T
NG_008493.2   g.332680C>A
NG_008493.2   g.332680C>T|SEQ=[C/A/T]|GENE=ESR1

rs6905370

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.152005062G>A
NC_000006.11   g.152326197G>A
NG_008493.2   g.353372G>A|SEQ=[G/A]|GENE=ESR1

rs13203975

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.152011969G>A
NC_000006.11   g.152333104G>A
NG_008493.2   g.360279G>A|SEQ=[G/A]|GENE=ESR1

rs926779

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.152034785G>A
NC_000006.11   g.152355920G>A
NG_008493.2   g.383095G>A|SEQ=[G/A]|GENE=ESR1

rs3020364

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.152045983A>G
NC_000006.12   g.152045983A>T
NC_000006.11   g.152367118A>G
NC_000006.11   g.152367118A>T
NG_008493.2   g.394293A>G
NG_008493.2   g.394293A>T|SEQ=[A/G/T]|GENE=ESR1

rs3020371

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.152062685C>A
NC_000006.12   g.152062685C>T
NC_000006.11   g.152383820C>A
NC_000006.11   g.152383820C>T
NG_008493.2   g.410995C>A
NG_008493.2   g.410995C>T|SEQ=[C/A/T]|GENE=ESR1

rs3020375

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.152068833A>C
NC_000006.12   g.152068833A>T
NC_000006.11   g.152389968A>C
NC_000006.11   g.152389968A>T
NG_008493.2   g.417143A>C
NG_008493.2   g.417143A>T|SEQ=[A/C/T]|GENE=ESR1

rs2228480

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.152098960G>A
NC_000006.11   g.152420095G>A
NG_008493.2   g.447270G>A
NM_000125.4   c.1782G>A
NM_000125.3   c.1782G>A
NM_001122742.1   c.1782G>A
NM_001122740.1   c.1782G>A
NM_001291230.1   c.1788G>A
NM_001122741.1   c.1782G>A
NM_001291241.1   c.1779G>A
X  

rs1801085

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27128971A>G
NC_000007.13   g.27168590A>G
NM_002141.4   c.*254T>C
NM_002141.5   c.*254T>C|SEQ=[A/G]|GENE=HOXA3
HOXA4   3201
HOXA-AS2   285943

rs1555633

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.31781295T>A
NC_000013.11   g.31781295T>G
NC_000013.10   g.32355432T>A
NC_000013.10   g.32355432T>G
NG_015819.1   g.46754T>A
NG_015819.1   g.46754T>G|SEQ=[T/A/G]|GENE=RXFP2

rs7325513

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.31786410A>C
NC_000013.11   g.31786410A>G
NC_000013.11   g.31786410A>T
NC_000013.10   g.32360547A>C
NC_000013.10   g.32360547A>G
NC_000013.10   g.32360547A>T
NG_015819.1   g.51869A>C
NG_015819.1   g.51869A>G
NG_015819.1   g.51869A>T
NM_130806.5   c.957A>

rs3779456

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27174938T>C
NC_000007.13   g.27214557T>C|SEQ=[T/C]|GENE=HOXA10
HOXA10-HOXA9   100534589

rs6461992

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27181212A>G
NC_000007.14   g.27181212A>T
NC_000007.13   g.27220831A>G
NC_000007.13   g.27220831A>T
NG_012079.1   g.9005T>C
NG_012079.1   g.9005T>A
NM_005523.6   c.*1584T>C
NM_005523.6   c.*1584T>A
NM_005523.5   c.*1584T>C
NM_005523.5   c.*1584T>A|SEQ=[A

rs6932902

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.152055389G>A
NC_000006.11   g.152376524G>A
NG_008493.2   g.403699G>A|SEQ=[G/A]|GENE=ESR1

rs1801132

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.151944387G>A
NC_000006.12   g.151944387G>C
NC_000006.12   g.151944387G>T
NC_000006.11   g.152265522G>A
NC_000006.11   g.152265522G>C
NC_000006.11   g.152265522G>T
NG_008493.2   g.292697C>G
NG_008493.2   g.292697C>A
NG_008493.2   g.292697C>T
NM_000125.  

rs2207396

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.152061247G>A
NC_000006.11   g.152382382G>A
NG_008493.2   g.409557G>A|SEQ=[G/A]|GENE=ESR1

rs2234693

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.151842200T>C
NC_000006.12   g.151842200T>G
NC_000006.11   g.152163335T>C
NC_000006.11   g.152163335T>G
NG_008493.2   g.190510T>C
NG_008493.2   g.190510T>G|SEQ=[T/C/G]|GENE=ESR1

rs9340799

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.151842246A>G
NC_000006.11   g.152163381A>G
NG_008493.2   g.190556A>G|SEQ=[A/G]|GENE=ESR1

rs13181

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.45351661T>A
NC_000019.10   g.45351661T>G
NC_000019.9   g.45854919T>A
NC_000019.9   g.45854919T>G
NG_007067.2   g.23927A>T
NG_007067.2   g.23927A>C
NM_000400.4   c.2251A>T
NM_000400.4   c.2251A>C
NM_000400.3   c.2251A>T
NM_000400.3   c.2251A>C
XM_0115266  

rs1618536

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.45368348T>A
NC_000019.10   g.45368348T>C
NC_000019.9   g.45871606T>A
NC_000019.9   g.45871606T>C
NG_007067.2   g.7240A>T
NG_007067.2   g.7240A>G|SEQ=[T/A/C]|GENE=ERCC2

rs1799793

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.45364001C>A
NC_000019.10   g.45364001C>T
NC_000019.9   g.45867259C>A
NC_000019.9   g.45867259C>T
NG_007067.2   g.11587G>T
NG_007067.2   g.11587G>A
NM_000400.4   c.934G>T
NM_000400.4   c.934G>A
NM_000400.3   c.934G>T
NM_000400.3   c.934G>A
NM_001130867.1  

rs3747052

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.19131479A>G
NC_000022.11   g.19131479A>T
NC_000022.10   g.19118992A>G
NC_000022.10   g.19118992A>T
NG_008320.1   g.18199T>C
NG_008320.1   g.18199T>A
NM_022719.3   c.*2717T>C
NM_022719.3   c.*2717T>A
NM_022719.2   c.*2717T>C
NM_022719.2   c.*2717T>A
NR_1  

rs1052756

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.19132173C>T
NC_000022.10   g.19119686C>T
NG_008320.1   g.17505G>A
NM_022719.3   c.*2023G>A
NM_022719.2   c.*2023G>A
NR_134304.2   n.3542G>A
NR_134304.1   n.3568G>A
NM_053006.5   c.774C>T
NM_053006.4   c.774C>T|SEQ=[C/T]|GENE=ESS2
TSSK2   23617

rs1052763

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.19132238C>T
NC_000022.10   g.19119751C>T
NG_008320.1   g.17440G>A
NM_022719.3   c.*1958G>A
NM_022719.2   c.*1958G>A
NR_134304.2   n.3477G>A
NR_134304.1   n.3503G>A
NM_053006.5   c.839C>T
NM_053006.4   c.839C>T
NP_443732.3   p.Thr280Met|SEQ=[C/T]|GENE=ES

rs1052773

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.19132425G>A
NC_000022.10   g.19119938G>A
NG_008320.1   g.17253C>T
NM_022719.3   c.*1771C>T
NM_022719.2   c.*1771C>T
NR_134304.2   n.3290C>T
NR_134304.1   n.3316C>T
NM_053006.5   c.1026G>A
NM_053006.4   c.1026G>A|SEQ=[G/A]|GENE=ESS2
TSSK2   23617

rs1042064

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.27544615T>C
NC_000008.10   g.27402132T>C
NG_012064.1   g.58488T>C
NM_001979.6   c.*93T>C
NM_001979.5   c.*93T>C
NM_001256484.2   c.*93T>C
NM_001256484.1   c.*93T>C
NM_001256482.2   c.*93T>C
NM_001256482.1   c.*93T>C
NM_001256483.2   c.*93T>C
NM_00125648  

rs17167484

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.134371303T>G
NC_000005.9   g.133706994T>G
NG_042179.2   g.4745A>C
NG_046936.1   g.5128T>G
NM_003337.3   c.-293T>G
XM_017009544.2   c.-937A>C
XM_017009545.2   c.-742A>C
XM_024446086.1   c.-327A>C
XM_024446097.1   c.-729A>C
XM_024446096.1   c.-708A>C
XM_0  

rs3777373

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.134391612A>G
NC_000005.9   g.133727303A>G
NG_046936.1   g.25437A>G
NM_003337.4   c.*1259A>G
NM_003337.3   c.*1259A>G
NM_003337.2   c.*1259A>G|SEQ=[A/G]|GENE=UBE2B

Protein Summary

• Protein general information: Q9BZC7  
  • Name: ATP binding cassette sub family A member 2 (ATP binding cassette transporter 2) (ATP binding cassette 2)
  • Length: 2435  
  • Mass: 269833
  • Tissue specificity: Highly expressed in the brain, whereas lower levels of expression is observed in kidney and liver. {ECO
• Sequence:

  MGFLHQLQLLLWKNVTLKRRSPWVLAFEIFIPLVLFFILLGLRQKKPTISVKEAFYTAAPLTSAGILPVMQSLCP
  DGQRDEFGFLQYANSTVTQLLERLDRVVEEGNLFDPARPSLGSELEALRQHLEALSAGPGTSGSHLDRSTVSSFS
  LDSVARNPQELWRFLTQNLSLPNSTAQALLAARVDPPEVYHLLFGPSSALDSQSGLHKGQEPWSRLGGNPLFRME
  ELLLAPALLEQLTCTPGSGELGRILTVPESQKGALQGYRDAVCSGQAAARARRFSGLSAELRNQLDVAKVSQQLG
  LDAPNGSDSSPQAPPPRRLQALLGDLLDAQKVLQDVDVLSALALLLPQGACTGRTPGPPASGAGGAANGTGAGAV
  MGPNATAEEGAPSAAALATPDTLQGQCSAFVQLWAGLQPILCGNNRTIEPEALRRGNMSSLGFTSKEQRNLGLLV
  HLMTSNPKILYAPAGSEVDRVILKANETFAFVGNVTHYAQVWLNISAEIRSFLEQGRLQQHLRWLQQYVAELRLH
  PEALNLSLDELPPALRQDNFSLPSGMALLQQLDTIDNAACGWIQFMSKVSVDIFKGFPDEESIVNYTLNQAYQDN
  VTVFASVIFQTRKDGSLPPHVHYKIRQNSSFTEKTNEIRRAYWRPGPNTGGRFYFLYGFVWIQDMMERAIIDTFV
  GHDVVEPGSYVQMFPYPCYTRDDFLFVIEHMMPLCMVISWVYSVAMTIQHIVAEKEHRLKEVMKTMGLNNAVHWV
  AWFITGFVQLSISVTALTAILKYGQVLMHSHVVIIWLFLAVYAVATIMFCFLVSVLYSKAKLASACGGIIYFLSY
  VPYMYVAIREEVAHDKITAFEKCIASLMSTTAFGLGSKYFALYEVAGVGIQWHTFSQSPVEGDDFNLLLAVTMLM
  VDAVVYGILTWYIEAVHPGMYGLPRPWYFPLQKSYWLGSGRTEAWEWSWPWARTPRLSVMEEDQACAMESRRFEE
  TRGMEEEPTHLPLVVCVDKLTKVYKDDKKLALNKLSLNLYENQVVSFLGHNGAGKTTTMSILTGLFPPTSGSATI
  YGHDIRTEMDEIRKNLGMCPQHNVLFDRLTVEEHLWFYSRLKSMAQEEIRREMDKMIEDLELSNKRHSLVQTLSG
  GMKRKLSVAIAFVGGSRAIILDEPTAGVDPYARRAIWDLILKYKPGRTILLSTHHMDEADLLGDRIAIISHGKLK
  CCGSPLFLKGTYGDGYRLTLVKRPAEPGGPQEPGLASSPPGRAPLSSCSELQVSQFIRKHVASCLLVSDTSTELS
  YILPSEAAKKGAFERLFQHLERSLDALHLSSFGLMDTTLEEVFLKVSEEDQSLENSEADVKESRKDVLPGAEGPA
  SGEGHAGNLARCSELTQSQASLQSASSVGSARGDEGAGYTDVYGDYRPLFDNPQDPDNVSLQEVEAEALSRVGQG
  SRKLDGGWLKVRQFHGLLVKRFHCARRNSKALFSQILLPAFFVCVAMTVALSVPEIGDLPPLVLSPSQYHNYTQP
  RGNFIPYANEERREYRLRLSPDASPQQLVSTFRLPSGVGATCVLKSPANGSLGPTLNLSSGESRLLAARFFDSMC
  LESFTQGLPLSNFVPPPPSPAPSDSPASPDEDLQAWNVSLPPTAGPEMWTSAPSLPRLVREPVRCTCSAQGTGFS
  CPSSVGGHPPQMRVVTGDILTDITGHNVSEYLLFTSDRFRLHRYGAITFGNVLKSIPASFGTRAPPMVRKIAVRR
  AAQVFYNNKGYHSMPTYLNSLNNAILRANLPKSKGNPAAYGITVTNHPMNKTSASLSLDYLLQGTDVVIAIFIIV
  AMSFVPASFVVFLVAEKSTKAKHLQFVSGCNPIIYWLANYVWDMLNYLVPATCCVIILFVFDLPAYTSPTNFPAV
  LSLFLLYGWSITPIMYPASFWFEVPSSAYVFLIVINLFIGITATVATFLLQLFEHDKDLKVVNSYLKSCFLIFPN
  YNLGHGLMEMAYNEYINEYYAKIGQFDKMKSPFEWDIVTRGLVAMAVEGVVGFLLTIMCQYNFLRRPQRMPVSTK
  PVEDDVDVASERQRVLRGDADNDMVKIENLTKVYKSRKIGRILAVDRLCLGVRPGECFGLLGVNGAGKTSTFKML
  TGDESTTGGEAFVNGHSVLKELLQVQQSLGYCPQCDALFDELTAREHLQLYTRLRGISWKDEARVVKWALEKLEL
  TKYADKPAGTYSGGNKRKLSTAIALIGYPAFIFLDEPTTGMDPKARRFLWNLILDLIKTGRSVVLTSHSMEECEA
  LCTRLAIMVNGRLRCLGSIQHLKNRFGDGYMITVRTKSSQSVKDVVRFFNRNFPEAMLKERHHTKVQYQLKSEHI
  SLAQVFSKMEQVSGVLGIEDYSVSQTTLDNVFVNFAKKQSDNLEQQETEPPSALQSPLGCLLSLLRPRSAPTELR
  ALVADEPEDLDTEDEGLISFEEERAQLSFNTDTLC

• Structural information:
  • Protein Domains: (990..122-)
    1 (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434-)
    (2050..228-)
    2 (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434"-)
  • Interpro: IPR003593  IPR003439  IPR017871  IPR026082  IPR027417  
  • Prosite: PS00211 PS50893
  • STRING: ENSP00000344155
• Other Databases: GeneCards:  ABCA2  Malacards:  ABCA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0099038	ceramide floppase activity	IDA	molecular function
GO:0045540	regulation of cholesterol biosynthetic process	IDA	NOT|biological process
GO:0099040	ceramide translocation	IDA	biological process
GO:1905601	negative regulation of receptor-mediated endocytosis involved in cholesterol transport	IDA	biological process
GO:0150110	negative regulation of cholesterol esterification	IDA	biological process
GO:0042986	positive regulation of amyloid precursor protein biosynthetic process	IDA	biological process
GO:1905598	negative regulation of low-density lipoprotein receptor activity	IDA	biological process
GO:0005886	plasma membrane	IDA	is active in
GO:0005886	plasma membrane	IDA	cellular component
GO:0061135	endopeptidase regulator activity	IMP	molecular function
GO:0010872	regulation of cholesterol esterification	IDA	biological process
GO:0046512	sphingosine biosynthetic process	IDA	biological process positive effect
GO:0071072	negative regulation of phospholipid biosynthetic process	IDA	biological process
GO:0032384	negative regulation of intracellular cholesterol transport	IDA	biological process
GO:0090156	cellular sphingolipid homeostasis	IDA	biological process
GO:1904375	regulation of protein localization to cell periphery	ISS	biological process
GO:2000008	regulation of protein localization to cell surface	ISS	biological process
GO:0007626	locomotory behavior	ISS	biological process
GO:0032805	positive regulation of low-density lipoprotein particle receptor catabolic process	IDA	biological process
GO:0090155	negative regulation of sphingolipid biosynthetic process	IDA	biological process
GO:1902993	positive regulation of amyloid precursor protein catabolic process	IMP	biological process
GO:1902993	positive regulation of amyloid precursor protein catabolic process	IGI	biological process
GO:0090370	negative regulation of cholesterol efflux	IDA	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0150110	negative regulation of cholesterol esterification	ISS	biological process
GO:1902004	positive regulation of amyloid-beta formation	ISS	biological process
GO:1902004	positive regulation of amyloid-beta formation	IMP	biological process
GO:0060049	regulation of protein glycosylation	ISS	biological process
GO:1901873	regulation of post-translational protein modification	IMP	biological process
GO:0032289	central nervous system myelin formation	ISS	biological process
GO:0005319	lipid transporter activity	IBA	molecular function
GO:0042626	ATPase-coupled transmembrane transporter activity	IBA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0006869	lipid transport	IBA	biological process
GO:0042626	ATPase-coupled transmembrane transporter activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0052548	regulation of endopeptidase activity	IEA	biological process
GO:0005768	endosome	IDA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005764	lysosome	IDA	cellular component
GO:0016887	ATPase activity	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0006629	lipid metabolic process	NAS	biological process
GO:0005815	microtubule organizing center	ISS	cellular component
GO:0048545	response to steroid hormone	IEP	biological process
GO:0043190	ATP-binding cassette (ABC) transporter complex	NAS	cellular component
GO:0042626	ATPase-coupled transmembrane transporter activity	NAS	molecular function
GO:0031410	cytoplasmic vesicle	ISS	cellular component
GO:0070723	response to cholesterol	IEP	biological process
GO:0005765	lysosomal membrane	NAS	cellular component
GO:0042493	response to drug	TAS	biological process
GO:0055085	transmembrane transport	NAS	biological process
GO:0005524	ATP binding	ISS	molecular function
GO:0000166	nucleotide binding	NAS	molecular function
GO:0042632	cholesterol homeostasis	IEP	biological process
GO:0032383	regulation of intracellular cholesterol transport	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome
hsa02010	ABC transporters

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R