Gene Page: ABCD3
Summary ?
GeneID | 5825 |
Symbol | ABCD3 |
Synonyms | ABC43|CBAS5|PMP70|PXMP1|ZWS2 |
Description | ATP binding cassette subfamily D member 3 |
Reference | MIM:170995|HGNC:HGNC:67|Ensembl:ENSG00000117528|HPRD:01368|Vega:OTTHUMG00000010717 |
Gene type | protein-coding |
Map location | 1p21.3 |
Pascal p-value | 0.595 |
Sherlock p-value | 0.36 |
Fetal beta | 0.568 |
DMG | 1 (# studies) |
eGene | Myers' cis & trans |
Support | G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS CompositeSet |
Gene in Data Sources
Gene set name | Method of gene set | Description | Info |
---|---|---|---|
CV:PGCnp | Genome-wide Association Study | GWAS | |
DMG:Jaffe_2016 | Genome-wide DNA methylation analysis | This dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. | 1 |
Section I. Genetics and epigenetics annotation
Differentially methylated gene
Probe | Chromosome | Position | Nearest gene | P (dis) | Beta (dis) | FDR (dis) | Study |
---|---|---|---|---|---|---|---|
cg17906523 | 1 | 94883536 | ABCD3 | 9.04E-9 | -0.01 | 4.12E-6 | DMG:Jaffe_2016 |
eQTL annotation
SNP ID | Chromosome | Position | eGene | Gene Entrez ID | pvalue | qvalue | TSS distance | eQTL type |
---|---|---|---|---|---|---|---|---|
rs4847340 | chr1 | 95158602 | ABCD3 | 5825 | 0.12 | cis |
Section II. Transcriptome annotation
General gene expression (GTEx)
Gene expression during devlopment (BrainCloud)
Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.
Gene expression of temporal and spatial changes (BrainSpan)
Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.
No co-expressed genes in brain regions
Section IV. Protein-protein interaction annotation
Interactors | Aliases B | Official full name B | Experimental | Source | PubMed ID |
---|---|---|---|---|---|
ABCD1 | ABC42 | ALD | ALDP | AMN | ATP-binding cassette, sub-family D (ALD), member 1 | Heterodimerization of ALDP with PMP70. | BIND | 10551832 |
ABCD1 | ABC42 | ALD | ALDP | AMN | ATP-binding cassette, sub-family D (ALD), member 1 | - | HPRD,BioGRID | 10551832 |
ABCD2 | ABC39 | ALDL1 | ALDR | ALDRP | hALDR | ATP-binding cassette, sub-family D (ALD), member 2 | PMP70 interacts with ALDRP. This interaction was modelled on a demonstrated interaction between human PMP70 and mouse ALDRP. | BIND | 10551832 |
ABCD3 | ABC43 | PMP70 | PXMP1 | ATP-binding cassette, sub-family D (ALD), member 3 | PMP70 homodimerizes via the carboxy-terminal half. | BIND | 10551832 |
BRF2 | BRFU | FLJ11052 | TFIIIB50 | BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like | Affinity Capture-MS | BioGRID | 17353931 |
C20orf24 | PNAS-11 | RIP5 | chromosome 20 open reading frame 24 | Affinity Capture-MS | BioGRID | 17353931 |
COL6A2 | DKFZp586E1322 | FLJ46862 | PP3610 | collagen, type VI, alpha 2 | - | HPRD | 12176987 |
MEST | DKFZp686L18234 | MGC111102 | MGC8703 | PEG1 | mesoderm specific transcript homolog (mouse) | Affinity Capture-MS | BioGRID | 17353931 |
MLF2 | NTN4 | myeloid leukemia factor 2 | Affinity Capture-MS | BioGRID | 17353931 |
PELO | CGI-17 | PRO1770 | pelota homolog (Drosophila) | Affinity Capture-MS | BioGRID | 17353931 |
PEX19 | D1S2223E | HK33 | PMP1 | PMPI | PXF | PXMP1 | peroxisomal biogenesis factor 19 | PMP70 interacts with both farnesylated and mutant farnesyl-deficient PEX19. | BIND | 10777694 |
PEX19 | D1S2223E | HK33 | PMP1 | PMPI | PXF | PXMP1 | peroxisomal biogenesis factor 19 | - | HPRD,BioGRID | 10777694 |11453642 |
PGRMC1 | HPR6.6 | MPR | progesterone receptor membrane component 1 | Affinity Capture-MS | BioGRID | 17353931 |
PTP4A3 | PRL-3 | PRL-R | PRL3 | protein tyrosine phosphatase type IVA, member 3 | Affinity Capture-MS | BioGRID | 17353931 |
Section V. Pathway annotation
Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
---|---|---|---|
KEGG ABC TRANSPORTERS | 44 | 29 | All SZGR 2.0 genes in this pathway |
KEGG PEROXISOME | 78 | 47 | All SZGR 2.0 genes in this pathway |
REACTOME ABCA TRANSPORTERS IN LIPID HOMEOSTASIS | 18 | 11 | All SZGR 2.0 genes in this pathway |
REACTOME ABC FAMILY PROTEINS MEDIATED TRANSPORT | 34 | 21 | All SZGR 2.0 genes in this pathway |
REACTOME TRANSMEMBRANE TRANSPORT OF SMALL MOLECULES | 413 | 270 | All SZGR 2.0 genes in this pathway |
WATANABE RECTAL CANCER RADIOTHERAPY RESPONSIVE UP | 108 | 67 | All SZGR 2.0 genes in this pathway |
SCHUETZ BREAST CANCER DUCTAL INVASIVE DN | 84 | 53 | All SZGR 2.0 genes in this pathway |
THUM SYSTOLIC HEART FAILURE UP | 423 | 283 | All SZGR 2.0 genes in this pathway |
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP | 1382 | 904 | All SZGR 2.0 genes in this pathway |
LIU VMYB TARGETS UP | 127 | 78 | All SZGR 2.0 genes in this pathway |
CHARAFE BREAST CANCER LUMINAL VS BASAL DN | 455 | 304 | All SZGR 2.0 genes in this pathway |
HORIUCHI WTAP TARGETS DN | 310 | 188 | All SZGR 2.0 genes in this pathway |
TIEN INTESTINE PROBIOTICS 24HR UP | 557 | 331 | All SZGR 2.0 genes in this pathway |
KIM WT1 TARGETS DN | 459 | 276 | All SZGR 2.0 genes in this pathway |
GRAHAM CML DIVIDING VS NORMAL QUIESCENT UP | 181 | 101 | All SZGR 2.0 genes in this pathway |
WAMUNYOKOLI OVARIAN CANCER LMP UP | 265 | 158 | All SZGR 2.0 genes in this pathway |
WAMUNYOKOLI OVARIAN CANCER GRADES 1 2 UP | 137 | 84 | All SZGR 2.0 genes in this pathway |
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED UP | 633 | 376 | All SZGR 2.0 genes in this pathway |
ENK UV RESPONSE EPIDERMIS DN | 508 | 354 | All SZGR 2.0 genes in this pathway |
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN | 1781 | 1082 | All SZGR 2.0 genes in this pathway |
MOHANKUMAR TLX1 TARGETS UP | 414 | 287 | All SZGR 2.0 genes in this pathway |
GOTZMANN EPITHELIAL TO MESENCHYMAL TRANSITION DN | 206 | 136 | All SZGR 2.0 genes in this pathway |
LEE LIVER CANCER MYC E2F1 DN | 64 | 38 | All SZGR 2.0 genes in this pathway |
TARTE PLASMA CELL VS PLASMABLAST DN | 309 | 206 | All SZGR 2.0 genes in this pathway |
LEE LIVER CANCER DENA DN | 74 | 45 | All SZGR 2.0 genes in this pathway |
FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN | 546 | 351 | All SZGR 2.0 genes in this pathway |
SESTO RESPONSE TO UV C4 | 20 | 14 | All SZGR 2.0 genes in this pathway |
MARIADASON REGULATED BY HISTONE ACETYLATION UP | 83 | 49 | All SZGR 2.0 genes in this pathway |
LU AGING BRAIN UP | 262 | 186 | All SZGR 2.0 genes in this pathway |
WELCSH BRCA1 TARGETS UP | 198 | 132 | All SZGR 2.0 genes in this pathway |
KRIGE RESPONSE TO TOSEDOSTAT 6HR DN | 911 | 527 | All SZGR 2.0 genes in this pathway |
KRIGE RESPONSE TO TOSEDOSTAT 24HR DN | 1011 | 592 | All SZGR 2.0 genes in this pathway |
MALONEY RESPONSE TO 17AAG DN | 79 | 45 | All SZGR 2.0 genes in this pathway |
BLUM RESPONSE TO SALIRASIB DN | 342 | 220 | All SZGR 2.0 genes in this pathway |
WANG TUMOR INVASIVENESS UP | 374 | 247 | All SZGR 2.0 genes in this pathway |
YOSHIMURA MAPK8 TARGETS DN | 366 | 257 | All SZGR 2.0 genes in this pathway |
ZHAN EARLY DIFFERENTIATION GENES DN | 42 | 29 | All SZGR 2.0 genes in this pathway |
HOSHIDA LIVER CANCER SUBCLASS S2 | 115 | 74 | All SZGR 2.0 genes in this pathway |
BRUINS UVC RESPONSE EARLY LATE | 317 | 190 | All SZGR 2.0 genes in this pathway |
WAKABAYASHI ADIPOGENESIS PPARG RXRA BOUND 8D | 882 | 506 | All SZGR 2.0 genes in this pathway |
PHONG TNF RESPONSE NOT VIA P38 | 337 | 236 | All SZGR 2.0 genes in this pathway |