Details for: ABCD2

Gene ID: 225

Symbol: ABCD2

Ensembl ID: ENSG00000173208

Description: ATP binding cassette subfamily D member 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 78.4981
    Cell Significance Index: -12.2100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 48.8284
    Cell Significance Index: -12.3900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 9.8949
    Cell Significance Index: -12.2000
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 2.1108
    Cell Significance Index: 16.2700
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 1.8599
    Cell Significance Index: 23.4200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.9636
    Cell Significance Index: 345.6400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.9245
    Cell Significance Index: 185.4500
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 0.6229
    Cell Significance Index: 8.7100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.5152
    Cell Significance Index: 39.5400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.5032
    Cell Significance Index: 30.9300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.5008
    Cell Significance Index: 12.0100
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.3795
    Cell Significance Index: 4.6000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.3682
    Cell Significance Index: 6.3100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3370
    Cell Significance Index: 233.0700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.2523
    Cell Significance Index: 11.1600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.2474
    Cell Significance Index: 9.3700
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.2159
    Cell Significance Index: 6.3600
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.2093
    Cell Significance Index: 2.4000
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.1851
    Cell Significance Index: 3.2000
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.1790
    Cell Significance Index: 2.2200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1698
    Cell Significance Index: 11.4200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.1547
    Cell Significance Index: 70.2100
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: 0.1424
    Cell Significance Index: 0.6200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.1156
    Cell Significance Index: 3.3000
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 0.0469
    Cell Significance Index: 0.5300
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.0321
    Cell Significance Index: 0.4000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0010
    Cell Significance Index: -1.8300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0050
    Cell Significance Index: -9.1900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0057
    Cell Significance Index: -8.8300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0069
    Cell Significance Index: -9.4100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0102
    Cell Significance Index: -6.4700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0123
    Cell Significance Index: -0.2600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0132
    Cell Significance Index: -9.6800
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0135
    Cell Significance Index: -0.5900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0173
    Cell Significance Index: -12.8000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0184
    Cell Significance Index: -13.9100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0222
    Cell Significance Index: -12.1300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0239
    Cell Significance Index: -13.4600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0292
    Cell Significance Index: -8.4000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0427
    Cell Significance Index: -8.4800
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0481
    Cell Significance Index: -0.7100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0492
    Cell Significance Index: -8.8700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0539
    Cell Significance Index: -7.8400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0648
    Cell Significance Index: -13.6500
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.0650
    Cell Significance Index: -0.8200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0655
    Cell Significance Index: -11.1800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.0664
    Cell Significance Index: -1.4200
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0702
    Cell Significance Index: -1.4100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0761
    Cell Significance Index: -10.4500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0765
    Cell Significance Index: -9.4100
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0930
    Cell Significance Index: -2.0100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0959
    Cell Significance Index: -9.9900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0994
    Cell Significance Index: -10.1600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1001
    Cell Significance Index: -11.8000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1014
    Cell Significance Index: -3.3200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1024
    Cell Significance Index: -3.2600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1052
    Cell Significance Index: -2.9400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1136
    Cell Significance Index: -13.0200
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.1156
    Cell Significance Index: -1.0000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1166
    Cell Significance Index: -1.6700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1301
    Cell Significance Index: -8.2000
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: -0.1303
    Cell Significance Index: -1.6900
  • Cell Name: invaginating midget bipolar cell (CL4033034)
    Fold Change: -0.1304
    Cell Significance Index: -1.6100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1393
    Cell Significance Index: -4.0900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1482
    Cell Significance Index: -6.9100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1568
    Cell Significance Index: -8.2300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1781
    Cell Significance Index: -3.9000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1790
    Cell Significance Index: -6.2700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1791
    Cell Significance Index: -9.3300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1822
    Cell Significance Index: -11.7600
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1874
    Cell Significance Index: -4.6800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1969
    Cell Significance Index: -11.0500
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1972
    Cell Significance Index: -3.9000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1978
    Cell Significance Index: -9.3000
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.2010
    Cell Significance Index: -2.1900
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.2049
    Cell Significance Index: -2.3900
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.2056
    Cell Significance Index: -4.9800
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.2088
    Cell Significance Index: -2.3900
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.2281
    Cell Significance Index: -4.7600
  • Cell Name: flat midget bipolar cell (CL4033033)
    Fold Change: -0.2337
    Cell Significance Index: -2.9100
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.2395
    Cell Significance Index: -2.2700
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.2507
    Cell Significance Index: -3.3800
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2629
    Cell Significance Index: -9.6500
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.2675
    Cell Significance Index: -6.6700
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.2972
    Cell Significance Index: -3.9700
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.2987
    Cell Significance Index: -3.8300
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.3005
    Cell Significance Index: -2.4800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.3051
    Cell Significance Index: -10.7200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3221
    Cell Significance Index: -8.2800
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.3305
    Cell Significance Index: -6.5900
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.3424
    Cell Significance Index: -2.3200
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.3488
    Cell Significance Index: -4.6500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.3520
    Cell Significance Index: -6.8700
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.3566
    Cell Significance Index: -4.5000
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.3566
    Cell Significance Index: -11.2800
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.3607
    Cell Significance Index: -7.1000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.3714
    Cell Significance Index: -10.7000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3822
    Cell Significance Index: -10.9600
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.3839
    Cell Significance Index: -8.8700
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.3897
    Cell Significance Index: -4.6600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **ABC Transporter Superfamily:** ABCD2 belongs to the ABC transporter superfamily, which is characterized by its ability to transport a wide range of substrates across cellular membranes using energy from ATP hydrolysis. 2. **Lipid Homeostasis:** ABCD2 is involved in regulating lipid homeostasis by facilitating the transport of long-chain fatty acids into peroxisomes, where they undergo beta-oxidation. 3. **Fatty Acid Metabolism:** The protein also plays a role in fatty acid metabolic processes, including the catabolism of very-long-chain fatty acids. 4. **Myelin Maintenance:** ABCD2 is essential for maintaining myelin structure and function, particularly in the central nervous system. 5. **Regulation of Inflammatory Response:** The protein exhibits negative regulatory effects on cytokine production and reactive oxygen species biosynthesis, suggesting a role in modulating the immune response. **Pathways and Functions:** ABCD2 is involved in several key pathways, including: 1. **Abc-family proteins mediated transport:** ABCD2 is a member of the ABC transporter superfamily, which is responsible for transporting a wide range of substrates across cellular membranes. 2. **Atp binding and hydrolysis activity:** The protein utilizes ATP hydrolysis to drive substrate transport across membranes. 3. **Fatty acid beta-oxidation:** ABCD2 facilitates the transport of long-chain fatty acids into peroxisomes, where they undergo beta-oxidation. 4. **Peroxisomal membrane organization:** The protein is localized to the peroxisomal membrane, where it regulates the organization and function of peroxisomes. 5. **Neuron projection maintenance:** ABCD2 is essential for maintaining myelin structure and function in neurons, particularly in the central nervous system. **Clinical Significance:** Dysregulation of ABCD2 has been implicated in various neurological and metabolic disorders, including: 1. **Multiple Sclerosis:** ABCD2 has been identified as a risk factor for multiple sclerosis, a chronic autoimmune disease affecting the central nervous system. 2. **Familial Hypercholesterolemia:** Mutations in the ABCD2 gene have been associated with familial hypercholesterolemia, a genetic disorder characterized by elevated cholesterol levels. 3. **Neurodegenerative Diseases:** Dysregulation of ABCD2 has been implicated in neurodegenerative diseases such as Alzheimer's disease and Parkinson's disease. In conclusion, ABCD2 is a critical gene that plays a pivotal role in maintaining cellular homeostasis and function. Its dysregulation has been implicated in various neurological and metabolic disorders, highlighting the importance of further research into the mechanisms underlying ABCD2 function and its role in human disease.

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:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 12 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 16 Ensembl 1 GO 23 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 2 Rhea 4 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.