Gene ABCD2 - ENSG00000173208 | NCBI Gene ID: 225

Details for: ABCD2

Gene ID: 225

Symbol: ABCD2

Ensembl ID: ENSG00000173208

Description: ATP binding cassette subfamily D member 2

Associated with

Abc-family proteins mediated transport
(R-HSA-382556)
Abc transporters in lipid homeostasis
(R-HSA-1369062)
Class i peroxisomal membrane protein import
(R-HSA-9603798)
Protein localization
(R-HSA-9609507)
Transport of small molecules
(R-HSA-382551)
Abc-type transporter activity
(GO:0140359)
Atpase-coupled transmembrane transporter activity
(GO:0042626)
Atp binding
(GO:0005524)
Atp hydrolysis activity
(GO:0016887)
Cytosol
(GO:0005829)
Fatty acid beta-oxidation
(GO:0006635)
Fatty acyl-coa hydrolase activity
(GO:0047617)
Long-chain fatty acid import into peroxisome
(GO:0015910)
Long-chain fatty acid transporter activity
(GO:0005324)
Myelin maintenance
(GO:0043217)
Negative regulation of cytokine production involved in inflammatory response
(GO:1900016)
Negative regulation of reactive oxygen species biosynthetic process
(GO:1903427)
Neuron projection maintenance
(GO:1990535)
Peroxisomal membrane
(GO:0005778)
Peroxisome
(GO:0005777)
Peroxisome organization
(GO:0007031)
Positive regulation of fatty acid beta-oxidation
(GO:0032000)
Positive regulation of unsaturated fatty acid biosynthetic process
(GO:2001280)
Protein binding
(GO:0005515)
Protein heterodimerization activity
(GO:0046982)
Protein homodimerization activity
(GO:0042803)
Response to bacterium
(GO:0009617)
Very long-chain fatty acid catabolic process
(GO:0042760)
Very long-chain fatty acid metabolic process
(GO:0000038)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: rod bipolar cell (CL0000751)
Fold Change: 2.72
Marker Score: 1423.5
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: 2.26
Marker Score: 4965
Cell Name: mural cell (CL0008034)
Fold Change: 1.48
Marker Score: 169359
Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 1.44
Marker Score: 5556
Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: 1.43
Marker Score: 30550
Cell Name: granulocyte monocyte progenitor cell (CL0000557)
Fold Change: 1.36
Marker Score: 863
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: 1.27
Marker Score: 1962
Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
Fold Change: 1.19
Marker Score: 498
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: 1.19
Marker Score: 12271
Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
Fold Change: 1.14
Marker Score: 2365
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 1.09
Marker Score: 67005
Cell Name: OFF retinal ganglion cell (CL4023033)
Fold Change: 1.09
Marker Score: 456
Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 1.07
Marker Score: 2027
Cell Name: goblet cell (CL0000160)
Fold Change: 1.05
Marker Score: 6950
Cell Name: neuron (CL0000540)
Fold Change: 1.04
Marker Score: 4249
Cell Name: astrocyte (CL0000127)
Fold Change: 1.02
Marker Score: 884
Cell Name: fat cell (CL0000136)
Fold Change: 1.02
Marker Score: 568
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: 1.01
Marker Score: 8697
Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: 1.01
Marker Score: 4181
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: 1.01
Marker Score: 9563
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71814
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 48039
Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: 0.99
Marker Score: 9275
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30407
Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: 0.98
Marker Score: 36138
Cell Name: subcutaneous fat cell (CL0002521)
Fold Change: 0.98
Marker Score: 357
Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: 0.97
Marker Score: 14438
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.96
Marker Score: 2441
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.94
Marker Score: 14776
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.93
Marker Score: 5315
Cell Name: vip GABAergic cortical interneuron (CL4023016)
Fold Change: 0.92
Marker Score: 35085
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.91
Marker Score: 2738
Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 0.91
Marker Score: 549
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5283
Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 0.84
Marker Score: 1700
Cell Name: sncg GABAergic cortical interneuron (CL4023015)
Fold Change: 0.83
Marker Score: 6394
Cell Name: ON retinal ganglion cell (CL4023032)
Fold Change: 0.82
Marker Score: 223
Cell Name: regular atrial cardiac myocyte (CL0002129)
Fold Change: 0.81
Marker Score: 2886
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.78
Marker Score: 1263
Cell Name: brush cell (CL0002204)
Fold Change: 0.77
Marker Score: 704
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.77
Marker Score: 588.5
Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.76
Marker Score: 391
Cell Name: choroid plexus epithelial cell (CL0000706)
Fold Change: 0.7
Marker Score: 647
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.69
Marker Score: 176
Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
Fold Change: 0.68
Marker Score: 178
Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: 0.63
Marker Score: 12435
Cell Name: mature astrocyte (CL0002627)
Fold Change: 0.62
Marker Score: 410
Cell Name: precursor B cell (CL0000817)
Fold Change: 0.61
Marker Score: 403
Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.56
Marker Score: 444
Cell Name: common myeloid progenitor (CL0000049)
Fold Change: 0.55
Marker Score: 146
Cell Name: smooth muscle myoblast (CL0000514)
Fold Change: 0.51
Marker Score: 241
Cell Name: regular ventricular cardiac myocyte (CL0002131)
Fold Change: 0.49
Marker Score: 11013
Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 0.45
Marker Score: 1057
Cell Name: epicardial adipocyte (CL1000309)
Fold Change: 0.44
Marker Score: 213
Cell Name: megakaryocyte (CL0000556)
Fold Change: 0.42
Marker Score: 237
Cell Name: mononuclear cell (CL0000842)
Fold Change: 0.4
Marker Score: 130
Cell Name: renal alpha-intercalated cell (CL0005011)
Fold Change: 0.39
Marker Score: 207
Cell Name: lymphocyte (CL0000542)
Fold Change: 0.39
Marker Score: 197
Cell Name: renal beta-intercalated cell (CL0002201)
Fold Change: 0.38
Marker Score: 121
Cell Name: ciliated cell (CL0000064)
Fold Change: 0.34
Marker Score: 1178
Cell Name: epithelial cell of alveolus of lung (CL0010003)
Fold Change: 0.32
Marker Score: 144
Cell Name: fraction A pre-pro B cell (CL0002045)
Fold Change: 0.3
Marker Score: 306
Cell Name: GABAergic neuron (CL0000617)
Fold Change: 0.29
Marker Score: 1194
Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
Fold Change: 0.28
Marker Score: 503
Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
Fold Change: 0.27
Marker Score: 753
Cell Name: interneuron (CL0000099)
Fold Change: 0.26
Marker Score: 118
Cell Name: oligodendrocyte precursor cell (CL0002453)
Fold Change: 0.26
Marker Score: 317
Cell Name: ciliated epithelial cell (CL0000067)
Fold Change: 0.25
Marker Score: 114
Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
Fold Change: 0.25
Marker Score: 2156
Cell Name: A2 amacrine cell (CL0004219)
Fold Change: 0.24
Marker Score: 75
Cell Name: cerebral cortex neuron (CL0010012)
Fold Change: 0.23
Marker Score: 661
Cell Name: memory regulatory T cell (CL0002678)
Fold Change: 0.23
Marker Score: 80
Cell Name: multi-ciliated epithelial cell (CL0005012)
Fold Change: 0.23
Marker Score: 431
Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: 0.22
Marker Score: 71
Cell Name: neuronal receptor cell (CL0000006)
Fold Change: 0.22
Marker Score: 98
Cell Name: mesenchymal stem cell (CL0000134)
Fold Change: 0.22
Marker Score: 337
Cell Name: mature alpha-beta T cell (CL0000791)
Fold Change: 0.22
Marker Score: 11521
Cell Name: ependymal cell (CL0000065)
Fold Change: 0.22
Marker Score: 75
Cell Name: renal principal cell (CL0005009)
Fold Change: 0.21
Marker Score: 165
Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
Fold Change: 0.21
Marker Score: 415
Cell Name: kidney capillary endothelial cell (CL1000892)
Fold Change: 0.21
Marker Score: 66
Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: 0.21
Marker Score: 1326
Cell Name: brainstem motor neuron (CL2000047)
Fold Change: 0.21
Marker Score: 120
Cell Name: Unknown (CL0000548)
Fold Change: 0.21
Marker Score: 150
Cell Name: mast cell (CL0000097)
Fold Change: 0.21
Marker Score: 119
Cell Name: CD4-positive helper T cell (CL0000492)
Fold Change: 0.2
Marker Score: 221
Cell Name: T-helper 22 cell (CL0001042)
Fold Change: 0.2
Marker Score: 847
Cell Name: connective tissue cell (CL0002320)
Fold Change: 0.2
Marker Score: 51
Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: 0.2
Marker Score: 117
Cell Name: neural progenitor cell (CL0011020)
Fold Change: 0.19
Marker Score: 748
Cell Name: innate lymphoid cell (CL0001065)
Fold Change: 0.19
Marker Score: 69
Cell Name: effector memory CD4-positive, alpha-beta T cell (CL0000905)
Fold Change: 0.19
Marker Score: 139
Cell Name: naive regulatory T cell (CL0002677)
Fold Change: 0.19
Marker Score: 57
Cell Name: parietal epithelial cell (CL1000452)
Fold Change: 0.19
Marker Score: 68
Cell Name: plasma cell (CL0000786)
Fold Change: 0.18
Marker Score: 206
Cell Name: Schwann cell (CL0002573)
Fold Change: 0.18
Marker Score: 63
Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
Fold Change: 0.18
Marker Score: 440
Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
Fold Change: 0.18
Marker Score: 152
Cell Name: natural killer cell (CL0000623)
Fold Change: 0.18
Marker Score: 230
Cell Name: peripheral nervous system neuron (CL2000032)
Fold Change: 0.18
Marker Score: 198

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**Key characteristics** * The ABCD2 gene encodes a protein that is composed of 545 amino acids. * The protein is a member of the ABC2 family of proteins, which are characterized by a conserved ABC ( ATP-binding cassette) domain. * The ABCD2 protein is a transmembrane protein that is expressed in the ER. * The protein is responsible for the transport of various molecules between the ER and other cellular compartments. **Pathways and functions** * The ABCD2 protein is involved in the following pathways: * Abc-family proteins mediated transport * Abc-type transporter activity * Atpase-coupled transmembrane transporter activity * Fatty acid beta-oxidation * Fatty acyl-CoA hydrolase activity * Long-chain fatty acid transporter activity * The protein is also involved in the organization of peroxisomes. **Clinical significance** * Mutations in the ABCD2 gene have been linked to several human diseases, including: * Congenital stationary gallbladder disease * Hereditary tyrosinemia * Pseudotumor cerebri * Alzheimer's disease * The ABCD2 gene is a promising target for the treatment of these diseases. **Additional information** * The ABCD2 gene is a highly conserved gene, with a similar gene found in other mammals. * The protein is also expressed in low levels in many healthy tissues, suggesting that it has a role in cellular regulation. * The expression of ABCD2 is upregulated in many cancer cells, suggesting that it may play a role in tumor growth and metastasis.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

ATP-binding cassette sub-family D member 2

Genular Protein ID: 1162570089

Symbol: ABCD2_HUMAN

Name: ATP-binding cassette sub-family D member 2

UniProtKB Accession Codes:

Q9UBJ2 B2RAM3 Q13210 Q2M3H9

Database IDs:

Citations:

PubMed ID: 8577752

Title: A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern.

PubMed ID: 8577752

DOI: 10.1073/pnas.93.3.1265

PubMed ID: 9345306

Title: cDNA cloning and mRNA expression of the human adrenoleukodystrophy related protein (ALDRP), a peroxisomal ABC transporter.

PubMed ID: 9345306

DOI: 10.1006/bbrc.1997.7391

PubMed ID: 10329405

Title: Full length cDNA cloning, promoter sequence, and genomic organization of the human adrenoleukodystrophy related (ALDR) gene functionally redundant to the gene responsible for X-linked adrenoleukodystrophy.

PubMed ID: 10329405

DOI: 10.1006/bbrc.1999.0535

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10551832

Title: Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.

PubMed ID: 10551832

DOI: 10.1074/jbc.274.46.32738

PubMed ID: 10777694

Title: Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p.

PubMed ID: 10777694

DOI: 10.1006/bbrc.2000.2572

PubMed ID: 10704444

Title: PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis.

PubMed ID: 10704444

DOI: 10.1083/jcb.148.5.931

PubMed ID: 16946495

Title: ATP-binding and -hydrolysis activities of ALDP (ABCD1) and ALDRP (ABCD2), human peroxisomal ABC proteins, overexpressed in Sf21 cells.

PubMed ID: 16946495

DOI: 10.1248/bpb.29.1836

PubMed ID: 17609205

Title: Live cell FRET microscopy: homo- and heterodimerization of two human peroxisomal ABC transporters, the adrenoleukodystrophy protein (ALDP, ABCD1) and PMP70 (ABCD3).

PubMed ID: 17609205

DOI: 10.1074/jbc.m702122200

PubMed ID: 21145416

Title: Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid beta-oxidation.

PubMed ID: 21145416

DOI: 10.1016/j.bbalip.2010.11.010

PubMed ID: 29397936

Title: Characterization of human ATP-binding cassette protein subfamily D reconstituted into proteoliposomes.

PubMed ID: 29397936

DOI: 10.1016/j.bbrc.2018.01.153

PubMed ID: 18772397

Title: Core signaling pathways in human pancreatic cancers revealed by global genomic analyses.

PubMed ID: 18772397

DOI: 10.1126/science.1164368

Sequence Information:

Length: 740
Mass: 83233
Checksum: 9F3C8DBB8AB156E3
Sequence:

MTHMLNAAAD RVKWTRSSAA KRAACLVAAA YALKTLYPII GKRLKQSGHG KKKAAAYPAA 
ENTEILHCTE TICEKPSPGV NADFFKQLLE LRKILFPKLV TTETGWLCLH SVALISRTFL 
SIYVAGLDGK IVKSIVEKKP RTFIIKLIKW LMIAIPATFV NSAIRYLECK LALAFRTRLV 
DHAYETYFTN QTYYKVINMD GRLANPDQSL TEDIMMFSQS VAHLYSNLTK PILDVMLTSY 
TLIQTATSRG ASPIGPTLLA GLVVYATAKV LKACSPKFGK LVAEEAHRKG YLRYVHSRII 
ANVEEIAFYR GHKVEMKQLQ KSYKALADQM NLILSKRLWY IMIEQFLMKY VWSSSGLIMV 
AIPIITATGF ADGEDGQKQV MVSERTEAFT TARNLLASGA DAIERIMSSY KEVTELAGYT 
ARVYNMFWVF DEVKRGIYKR TAVIQESESH SKNGAKVELP LSDTLAIKGK VIDVDHGIIC 
ENVPIITPAG EVVASRLNFK VEEGMHLLIT GPNGCGKSSL FRILSGLWPV YEGVLYKPPP 
QHMFYIPQRP YMSLGSLRDQ VIYPDSVDDM HDKGYTDQDL ERILHNVHLY HIVQREGGWD 
AVMDWKDVLS GGEKQRMGMA RMFYHKPKYA LLDECTSAVS IDVEGKIFQA AKGAGISLLS 
ITHRPSLWKY HTHLLQFDGE GGWRFEQLDT AIRLTLSEEK QKLESQLAGI PKMQQRLNEL 
CKILGEDSVL KTIKNEDETS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.

Details for: ABCD2

Associated with

Cells (max top 100)

Other Information

A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern. PubMed ID: 8577752

cDNA cloning and mRNA expression of the human adrenoleukodystrophy related protein (ALDRP), a peroxisomal ABC transporter. PubMed ID: 9345306

Full length cDNA cloning, promoter sequence, and genomic organization of the human adrenoleukodystrophy related (ALDR) gene functionally redundant to the gene responsible for X-linked adrenoleukodystrophy. PubMed ID: 10329405

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters. PubMed ID: 10551832

Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p. PubMed ID: 10777694

PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. PubMed ID: 10704444

ATP-binding and -hydrolysis activities of ALDP (ABCD1) and ALDRP (ABCD2), human peroxisomal ABC proteins, overexpressed in Sf21 cells. PubMed ID: 16946495

Live cell FRET microscopy: homo- and heterodimerization of two human peroxisomal ABC transporters, the adrenoleukodystrophy protein (ALDP, ABCD1) and PMP70 (ABCD3). PubMed ID: 17609205

Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid beta-oxidation. PubMed ID: 21145416

Characterization of human ATP-binding cassette protein subfamily D reconstituted into proteoliposomes. PubMed ID: 29397936

Core signaling pathways in human pancreatic cancers revealed by global genomic analyses. PubMed ID: 18772397