ABCD2

Summary

ABCD2 (ATP binding cassette subfamily D member 2, HGNC:66) is a protein-coding gene on chromosome 12q12, encoding ATP-binding cassette sub-family D member 2 (Q9UBJ2). ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the transport of very long chain fatty acid (VLCFA)-CoA from the cytosol to the peroxisome lumen.

The 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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of ABCD1 and/or other peroxisomal ABC transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis.

Source: NCBI Gene 225 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 90 total — 4 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_005164

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:66
Approved symbol	ABCD2
Name	ATP binding cassette subfamily D member 2
Location	12q12
Locus type	gene with protein product
Status	Approved
Aliases	ALDR, ALDRP
Ensembl gene	ENSG00000173208
Ensembl biotype	protein_coding
OMIM	601081
Entrez	225

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000308666, ENST00000961977, ENST00000961978

RefSeq mRNA: 6 — MANE Select: NM_005164 NM_001412788, NM_001412789, NM_001412790, NM_001412791, NM_001412793, NM_005164

CCDS: CCDS8734

Canonical transcript exons

ENST00000308666 — 10 exons

Exon	Start	End
ENSE00001182842	39573716	39573841
ENSE00001182847	39579535	39579619
ENSE00001182851	39586152	39586297
ENSE00001182856	39600571	39600716
ENSE00001182861	39603912	39604006
ENSE00001182864	39604762	39604930
ENSE00001182868	39607599	39607714
ENSE00001182872	39616988	39617168
ENSE00001182878	39550033	39554131
ENSE00001290986	39618677	39619803

Expression profiles

Bgee: expression breadth ubiquitous, 155 present calls, max score 81.40.

FANTOM5 (CAGE): breadth broad, TPM avg 4.9513 / max 164.2476, expressed in 478 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
130457	4.3676	460
130458	0.4802	123
130456	0.0639	38
130455	0.0396	12

Top tissues by expression

279 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.40	gold quality
cortical plate	UBERON:0005343	77.89	gold quality
cerebellar cortex	UBERON:0002129	73.81	gold quality
cerebellar hemisphere	UBERON:0002245	73.77	gold quality
right hemisphere of cerebellum	UBERON:0014890	72.97	gold quality
ganglionic eminence	UBERON:0004023	71.97	gold quality
ventricular zone	UBERON:0003053	71.91	gold quality
calcaneal tendon	UBERON:0003701	71.77	gold quality
cerebellum	UBERON:0002037	71.36	gold quality
prefrontal cortex	UBERON:0000451	71.11	gold quality
right atrium auricular region	UBERON:0006631	70.11	gold quality
adipose tissue	UBERON:0001013	70.05	gold quality
subcutaneous adipose tissue	UBERON:0002190	69.46	gold quality
connective tissue	UBERON:0002384	68.96	gold quality
Brodmann (1909) area 9	UBERON:0013540	68.54	gold quality
cardiac atrium	UBERON:0002081	68.40	gold quality
omental fat pad	UBERON:0010414	68.17	gold quality
peritoneum	UBERON:0002358	68.10	gold quality
right frontal lobe	UBERON:0002810	68.09	gold quality
adipose tissue of abdominal region	UBERON:0007808	67.90	gold quality
smooth muscle tissue	UBERON:0001135	67.74	gold quality
cingulate cortex	UBERON:0003027	67.12	gold quality
anterior cingulate cortex	UBERON:0009835	66.82	gold quality
putamen	UBERON:0001874	66.80	gold quality
granulocyte	CL:0000094	66.73	gold quality
caudate nucleus	UBERON:0001873	66.61	gold quality
lymph node	UBERON:0000029	66.25	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	66.20	gold quality
neocortex	UBERON:0001950	65.55	gold quality
frontal cortex	UBERON:0001870	65.33	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.91

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NR0B1, NR1H3, PPARA, SREBF1, TCF7L2, THRA

miRNA regulators (miRDB)

138 targeting ABCD2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-5680	99.91	69.83	3421

Literature-anchored findings (GeneRIF, showing 16)

• ALDP and ALDRP interact via their carboxy termini. ALDP mutations P484R and R591Q abolish this interaction. This interaction was demonstrated using human ALDP and murine ALDRP. (PMID:10551832)
• ALDRP (ABCD2) homodimerizes via the C terminal half. This interaction is modelled on the demonstrated homodimerization of murine ALDRP (ABCD2). (PMID:10551832)
• ALDRP interacts with PMP70. This interaction occurs via the ALDRP C-terminus [374-740] and the PMP70 C-terminus [338-659]. This interaction was demonstrated using human PMP70 and mouse ALDRP. (PMID:10551832)
• LDRP (ABCD2) interacts with both farnesylated wild-type and farnesylation-deficient mutant PEX19. This interaction is mediated by amino acids 1-218 of ALDRP. (PMID:10777694)
• ALDRP interacts with PEX19 splice variants PEX19-delta-E2 and PEX19-delta-E8. (PMID:11883941)
• LXRalpha is a negative modulator of Abcd2, acting through a novel regulatory mechanism involving overlapping SREBP and LXRalpha binding sites (PMID:16249184)
• Testosterone metabolites increased expression of ABCD2 mRNA in fibroblasts from X-linked adrenoleukodystrophy patients. (PMID:17602313)
• These findings are of particular importance for the attempt of pharmacological induction of ABCD2 as a possible therapeutic approach in X-linked adrenoleukodystrophy. (PMID:18834860)
• HsABCD1 and HsABCD2 have distinct substrate specificities (PMID:21145416)
• The transcriptional activity of the ABCD2 promoter was strongly increased by ectopic expression of beta-catenin and TCF-4. (PMID:23437103)
• results show that although patients with ABCD2 score greater than 4 were more likely to develop recurrent TIA/CVA in short term, those with lesser score still harbour a considerable risk for TIA/CVA (PMID:24338191)
• 13-cis-retinoic acid induces ABCD2 expression in human monocytes/macrophages. (PMID:25079382)
• ABCD2 has a role, but not a strong one, in risk of early recurrent events after transient ischemic attack (PMID:25604068)
• ABCD1 and ABCD2 are involved in the transport of long and very long chain fatty acids (VLCFA) or their CoA-derivatives into peroxisomes with different substrate specificities, while ABCD3 is involved in the transport of branched chain acyl-CoA into peroxisomes.ABCD4 is deduced to take part in the transport of vitamin B12 from lysosomes into the cytosol. (PMID:27766264)
• The functional integrity of ABCD2 may play an important role in OA pathogenesis via the accumulation of VLCFAs and stimulation of apoptotic death through altering profiles of miRNAs that target ACSL4. (PMID:30264402)
• Peroxisomal ABC Transporters: An Update. (PMID:34198763)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	abcd2	ENSDARG00000059409
		ENSDARG00000099178
mus_musculus	Abcd2	ENSMUSG00000055782
rattus_norvegicus	Abcd2	ENSRNOG00000015538
drosophila_melanogaster	Abcd1	FBGN0039890
caenorhabditis_elegans		WBGENE00004061

Paralogs (3): ABCD1 (ENSG00000101986), ABCD3 (ENSG00000117528), ABCD4 (ENSG00000119688)

Protein

Protein identifiers

ATP-binding cassette sub-family D member 2 — Q9UBJ2 (reviewed: Q9UBJ2)

Alternative names: Adrenoleukodystrophy-like 1, Adrenoleukodystrophy-related protein

All UniProt accessions (1): Q9UBJ2

UniProt curated annotations — full annotation on UniProt →

Function. ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the transport of very long chain fatty acid (VLCFA)-CoA from the cytosol to the peroxisome lumen. Like ABCD1 seems to have fatty acyl-CoA thioesterase (ACOT) and ATPase activities, according to this model, VLCFA-CoA as free VLCFA is transpoted in an ATP-dependent manner into peroxisomes after the hydrolysis of VLCFA-CoA mediated by the ACOT activity of ABCD2. Shows overlapping substrate specificities with ABCD1 toward saturated fatty acids (FA) and monounsaturated FA (MUFA) but has a distinct substrate preference for shorter VLCFA (C22:0) and polyunsaturated fatty acid (PUFA) such as C22:6-CoA and C24:6-CoA (in vitro). Thus, may play a role in regulation of VLCFAs and energy metabolism namely, in the degradation and biosynthesis of fatty acids by beta-oxidation.

Subunit / interactions. Homodimers. Homotetramers. The minimal functional unit is a homodimer but the major oligomeric form in peroxisomal membrane is a homotetramer. Forms heterodimers with ABCD1. Forms heterodimers with ABCD3. In addition to tetramers, some larger molecular assemblies are also found but represented only a minor fraction. Interacts with PEX19; facilitates ABCD2 insertion into the peroxisome membrane.

Subcellular location. Peroxisome membrane.

Tissue specificity. Predominantly expressed in brain and heart.

Similarity. Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.

RefSeq proteins (6): NP_001399717, NP_001399718, NP_001399719, NP_001399720, NP_001399722, NP_005155* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003439	ABC_transporter-like_ATP-bd	Domain
IPR003593	AAA+_ATPase	Domain
IPR011527	ABC1_TM_dom	Domain
IPR017871	ABC_transporter-like_CS	Conserved_site
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036640	ABC1_TM_sf	Homologous_superfamily
IPR050835	ABC_transporter_sub-D	Family

Pfam: PF00005, PF06472

Enzyme classification (BRENDA):

• EC 7.6.2.4 — ABC-type fatty-acyl-CoA transporter (BRENDA: 8 organisms, 66 substrates, 10 inhibitors, 1 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ATP	0.28	1

Catalyzed reactions (Rhea), 2 shown:

• a very long-chain fatty acyl-CoA + H2O = a very long-chain fatty acid + CoA + H(+) (RHEA:67072)
• a very long-chain fatty acid(in) + ATP + H2O = a very long-chain fatty acid(out) + ADP + phosphate + H(+) (RHEA:67080)

UniProt features (13 total): transmembrane region 4, glycosylation site 2, domain 2, chain 1, sequence variant 1, sequence conflict 1, region of interest 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UBJ2-F1	81.65	0.45

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (1): 511–518

Glycosylation sites (2): 227, 190

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-1369062	ABC transporters in lipid homeostasis
R-HSA-9603798	Class I peroxisomal membrane protein import
R-HSA-382551	Transport of small molecules
R-HSA-382556	ABC-family protein mediated transport
R-HSA-9609507	Protein localization

MSigDB gene sets: 266 (showing top): GOBP_LIPID_MODIFICATION, GOBP_FATTY_ACID_CATABOLIC_PROCESS, GOBP_INFLAMMATORY_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS, GOBP_PLASMA_MEMBRANE_ORGANIZATION, chr12q12, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, TAL1ALPHAE47_01, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_KETONE_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ACID_TRANSPORT, KEGG_ABC_TRANSPORTERS, GOBP_REGULATION_OF_FATTY_ACID_METABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_FATTY_ACID_BIOSYNTHETIC_PROCESS

GO Biological Process (23): very long-chain fatty acid metabolic process (GO:0000038), fatty acid beta-oxidation (GO:0006635), unsaturated fatty acid biosynthetic process (GO:0006636), peroxisome organization (GO:0007031), response to bacterium (GO:0009617), long-chain fatty acid import into peroxisome (GO:0015910), positive regulation of fatty acid beta-oxidation (GO:0032000), alpha-linolenic acid metabolic process (GO:0036109), long-chain fatty acid biosynthetic process (GO:0042759), very long-chain fatty acid catabolic process (GO:0042760), myelin maintenance (GO:0043217), linoleic acid metabolic process (GO:0043651), negative regulation of cytokine production involved in inflammatory response (GO:1900016), fatty acid derivative biosynthetic process (GO:1901570), negative regulation of reactive oxygen species biosynthetic process (GO:1903427), neuron projection maintenance (GO:1990535), positive regulation of unsaturated fatty acid biosynthetic process (GO:2001280), fatty acid biosynthetic process (GO:0006633), organophosphate ester transport (GO:0015748), nucleobase-containing compound transport (GO:0015931), regulation of fatty acid metabolic process (GO:0019217), obsolete amide transport (GO:0042886), transmembrane transport (GO:0055085)

GO Molecular Function (15): long-chain fatty acid transmembrane transporter activity (GO:0005324), ATP binding (GO:0005524), organophosphate ester transmembrane transporter activity (GO:0015605), nucleobase-containing compound transmembrane transporter activity (GO:0015932), ATP hydrolysis activity (GO:0016887), ATPase-coupled transmembrane transporter activity (GO:0042626), protein homodimerization activity (GO:0042803), obsolete amide transmembrane transporter activity (GO:0042887), protein heterodimerization activity (GO:0046982), fatty acyl-CoA hydrolase activity (GO:0047617), ABC-type transporter activity (GO:0140359), sulfur compound transmembrane transporter activity (GO:1901682), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (4): peroxisome (GO:0005777), peroxisomal membrane (GO:0005778), cytosol (GO:0005829), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
ABC-family protein mediated transport	1
Protein localization	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
unsaturated fatty acid metabolic process	3
long-chain fatty acid metabolic process	3
transmembrane transporter activity	3
fatty acid metabolic process	2
fatty acid catabolic process	2
fatty acid biosynthetic process	2
long-chain fatty acid transport	2
olefinic compound metabolic process	2
lipid biosynthetic process	2
ATP-dependent activity	2
protein dimerization activity	2
cellular anatomical structure	2
fatty acid ligase activity	1
fatty acid oxidation	1
organelle organization	1
response to other organism	1
intercellular transport	1
peroxisomal membrane transport	1
intracellular lipid transport	1
fatty acid transmembrane transport	1
fatty acid beta-oxidation	1
regulation of fatty acid beta-oxidation	1
positive regulation of fatty acid oxidation	1
positive regulation of lipid catabolic process	1
very long-chain fatty acid metabolic process	1
plasma membrane organization	1
myelination	1
negative regulation of cytokine production	1
cytokine production involved in inflammatory response	1
regulation of cytokine production involved in inflammatory response	1
fatty acid derivative metabolic process	1
negative regulation of biosynthetic process	1
reactive oxygen species biosynthetic process	1
regulation of reactive oxygen species biosynthetic process	1
negative regulation of reactive oxygen species metabolic process	1
neuron projection organization	1
unsaturated fatty acid biosynthetic process	1
positive regulation of fatty acid biosynthetic process	1
regulation of unsaturated fatty acid biosynthetic process	1
monocarboxylic acid biosynthetic process	1

Protein interactions and networks

STRING

742 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABCD2	ACSBG1	Q96GR2	850
ABCD2	SLC27A2	O14975	834
ABCD2	PLXNB3	Q9ULL4	670
ABCD2	BCAP31	P51572	650
ABCD2	COASY	Q13057	648
ABCD2	ACSL6	Q9UKU0	552
ABCD2	ACSL3	O95573	544
ABCD2	ELOVL1	Q9BW60	532
ABCD2	ACSL4	O60488	523
ABCD2	AKR1B1	P15121	520
ABCD2	PEX13	Q92968	513
ABCD2	L1CAM	P32004	490
ABCD2	PEX7	O00628	472
ABCD2	PEX19	P40855	469
ABCD2	PEX11B	O96011	467
ABCD2	ACSL1	P33121	467

IntAct

5 interactions, top by confidence:

A	B	Type	Score
PEX19	ABCD2	psi-mi:“MI:0407”(direct interaction)	0.440
ABCD1	ABCD2	psi-mi:“MI:0915”(physical association)	0.370
M		psi-mi:“MI:0914”(association)	0.350
FECH	POTEF	psi-mi:“MI:0914”(association)	0.350

BioGRID (7): ABCD2 (Affinity Capture-MS), ABCD2 (Two-hybrid), ABCD2 (Reconstituted Complex), ABCD2 (Reconstituted Complex), ABCD2 (Two-hybrid), ABCD2 (Dosage Rescue), ABCD2 (Dosage Rescue)

ESM2 similar proteins: A0A0U1LQE1, A0A0U5GNT1, A0A125QXJ1, A0A142I732, A0A179H0T5, A0A8J9WHR9, D3ZHR2, E7F6F7, F1RBC8, G4N2B5, H2LNR5, J9VQH1, O14678, O70595, O75027, O89016, P0CL92, P16970, P21441, P28288, P33897, P48410, P55096, P9WEL8, Q08D64, Q09427, Q09428, Q09429, Q2UPC0, Q4PH16, Q4WPP6, Q5AV00, Q5AV07, Q5R9Z5, Q61102, Q61285, Q66H39, Q6FIK3, Q704E8, Q751N2

Diamond homologs: A0A0U1LQE1, B2RX12, D3ZHR2, F1RBC8, O15438, O15439, O88563, P16877, P16970, P21441, P28288, P31826, P33897, P34230, P41909, P48410, P55096, P77279, P9WQI8, P9WQI9, Q1C812, Q1CJG3, Q1LKJ2, Q1QR47, Q21PQ7, Q54W19, Q57335, Q5E6M2, Q5F364, Q61285, Q66AT7, Q7CIC2, Q7JUN3, Q8T8P3, Q94FB9, Q9I3N7, Q9QY44, Q9UBJ2, Q9Z651, S8EXU2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

90 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	1
Uncertain significance	74
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	Pathogenic
221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	Pathogenic
3063272	GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3	Pathogenic
687619	GRCh37/hg19 12q12(chr12:39577315-40582797)x1	Pathogenic
443519	GRCh37/hg19 12p11.22-q12(chr12:29123400-40956186)x3	Likely pathogenic

SpliceAI

1745 predictions. Top by Δscore:

Variant	Effect	Δscore
12:39553925:T:C	donor_gain	1.0000
12:39586153:T:TA	donor_gain	1.0000
12:39600715:ACCTA:A	acceptor_loss	1.0000
12:39600716:CCTAA:C	acceptor_loss	1.0000
12:39600717:C:CC	acceptor_gain	1.0000
12:39600717:CTA:C	acceptor_loss	1.0000
12:39603910:A:AC	donor_gain	1.0000
12:39603911:C:CC	donor_gain	1.0000
12:39604002:TTTTC:T	acceptor_gain	1.0000
12:39604003:TTTC:T	acceptor_gain	1.0000
12:39604004:TTC:T	acceptor_gain	1.0000
12:39604004:TTCC:T	acceptor_loss	1.0000
12:39604005:TC:T	acceptor_gain	1.0000
12:39604006:CC:C	acceptor_gain	1.0000
12:39604007:C:CC	acceptor_gain	1.0000
12:39604008:T:A	acceptor_loss	1.0000
12:39604012:A:AC	acceptor_gain	1.0000
12:39604013:T:C	acceptor_gain	1.0000
12:39604013:T:TC	acceptor_gain	1.0000
12:39604758:ATAC:A	donor_loss	1.0000
12:39604759:TA:T	donor_loss	1.0000
12:39604795:C:CT	donor_loss	1.0000
12:39604796:T:TT	donor_loss	1.0000
12:39604803:G:C	donor_gain	1.0000
12:39604926:GTGAC:G	acceptor_gain	1.0000
12:39604927:TGAC:T	acceptor_gain	1.0000
12:39604928:GAC:G	acceptor_gain	1.0000
12:39604929:AC:A	acceptor_gain	1.0000
12:39604930:CC:C	acceptor_gain	1.0000
12:39604931:C:CC	acceptor_gain	1.0000

AlphaMissense

4847 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:39573821:T:A	D633V	1.000
12:39600635:A:G	W528R	1.000
12:39600635:A:T	W528R	1.000
12:39554111:A:G	L675S	0.999
12:39573737:A:T	I661K	0.999
12:39573799:G:C	S640R	0.999
12:39573799:G:T	S640R	0.999
12:39573801:T:G	S640R	0.999
12:39573808:A:C	S637R	0.999
12:39573808:A:T	S637R	0.999
12:39573810:T:G	S637R	0.999
12:39573818:T:A	E634V	0.999
12:39573819:C:T	E634K	0.999
12:39573820:A:C	D633E	0.999
12:39573820:A:T	D633E	0.999
12:39573821:T:G	D633A	0.999
12:39573822:C:G	D633H	0.999
12:39573830:G:T	A630D	0.999
12:39579554:C:G	A620P	0.999
12:39579567:T:A	Q615H	0.999
12:39579567:T:G	Q615H	0.999
12:39600573:T:A	Q548H	0.999
12:39600573:T:G	Q548H	0.999
12:39600652:C:G	R522T	0.999
12:39600663:A:C	S518R	0.999
12:39600663:A:T	S518R	0.999
12:39600665:T:G	S518R	0.999
12:39600667:T:A	K517I	0.999
12:39600668:T:G	K517Q	0.999
12:39600670:C:A	G516V	0.999

dbSNP variants (sampled 300 via entrez): RS1000055410 (12:39592894 T>G), RS1000061675 (12:39615244 A>G), RS1000070359 (12:39545818 C>A), RS1000071986 (12:39570087 A>T), RS1000082270 (12:39618318 T>A), RS1000088283 (12:39576451 G>A,C), RS1000089759 (12:39545504 A>G), RS1000156899 (12:39544942 T>A), RS1000173919 (12:39555523 G>T), RS1000200710 (12:39596486 T>A,C), RS1000211765 (12:39581375 C>G,T), RS1000261355 (12:39533768 C>T), RS1000267316 (12:39555213 C>A,G), RS1000330226 (12:39582743 T>C), RS1000440591 (12:39552109 G>A)

Disease associations

OMIM: gene MIM:601081 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs4284427	ABCD2		0.00	0

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — ABCD subfamily of peroxisomal ABC transporters

CTD chemical–gene interactions

30 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Dexamethasone	increases expression, affects cotreatment	2
Tetrachlorodibenzodioxin	decreases expression, decreases reaction	2
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
bisphenol A	decreases methylation	1
ethyl-p-hydroxybenzoate	increases expression	1
sodium arsenite	decreases expression	1
tobacco tar	decreases expression, decreases reaction	1
allyl sulfide	decreases expression, decreases reaction	1
S-(1,2-dichlorovinyl)cysteine	decreases expression, affects cotreatment	1
clothianidin	decreases expression	1
bisphenol S	increases expression	1
Docetaxel	decreases expression, decreases response to substance	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Cadmium	increases abundance, increases expression	1
Endosulfan	decreases expression, decreases reaction	1
Indomethacin	affects cotreatment, increases expression	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
8-Bromo Cyclic Adenosine Monophosphate	decreases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	affects expression	1
Asbestos, Crocidolite	decreases expression	1
Silver Compounds	decreases expression	1
Cadmium Chloride	increases abundance, increases expression	1
Okadaic Acid	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.