EBP - EBP cholestenol delta-isomerase Gene
Also Known as CPX; CHO2; CPXD; MEND; CDPX2
Species: Homo sapiens
About EBP
This gene has 6 transcripts (splice variants), 189 orthologues, 1 paralogue and is associated with 5 phenotypes. Ubiquitous expression in liver (RPKM 87.3), duodenum (RPKM 37.6) and 24 other tissues.
Summary
The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with Bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq, Jul 2008]
EBP Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_006579.3 | NP_006570.1 | 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
25910212 | GOA |
| enables steroid delta-isomerase activity |
EXP
EXP: Inferred from Experiment
|
10391218 | GOA |
| enables steroid delta-isomerase activity |
IDA
IDA: Inferred from direct assay
|
9894009 | GOA |
| enables steroid delta-isomerase activity |
IMP
IMP: Inferred from mutant phenotype
|
10391219 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cholesterol biosynthetic process |
IDA
IDA: Inferred from direct assay
|
9894009 | GOA |
| involved in cholesterol metabolic process |
IMP
IMP: Inferred from mutant phenotype
|
10391219 | GOA |
| involved in ossification involved in bone maturation |
IMP
IMP: Inferred from mutant phenotype
|
10391219 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
10406945 | GOA |
| located in nuclear envelope |
IDA
IDA: Inferred from direct assay
|
10406945 | GOA |
EBP Protein Structure
EBP: Emopamil binding protein (35 - 220)
- 0
- 100
- 200
- 230 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase |
|
EBP Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
EBP | Q15125 | LDLRAD1 | Homo sapiens | Q5T700 | 32296183 | |
|
Intra
|
EBP | Q15125 | LDLRAD1 | Homo sapiens | Q5T700 | 32296183 | |
|
Intra
|
EBP | Q15125 | LDLRAD1 | Homo sapiens | Q5T700 | 32296183 | |
|
Intra
|
EBP | Q15125 | RTP2 | Homo sapiens | Q5QGT7 | 32296183 | |
|
Intra
|
EBP | Q15125 | ZDHHC24 | Homo sapiens | Q6UX98 | 32296183 | |
|
Intra
|
EBP | Q15125 | SLC30A8 | Homo sapiens | Q8IWU4 | 32296183 | |
|
Intra
|
EBP | Q15125 | NRM | Homo sapiens | Q8IXM6 | 32296183 | |
|
Intra
|
EBP | Q15125 | TMEM199 | Homo sapiens | Q8N511 | 32296183 | |
|
Intra
|
EBP | Q15125 | JAGN1 | Homo sapiens | Q8N5M9 | 32296183 | |
|
Intra
|
EBP | Q15125 | CCL4L1 | Homo sapiens | Q8NHW4 | 32296183 | |
|
Intra
|
EBP | Q15125 | SLC41A2 | Homo sapiens | Q96JW4 | 32296183 | |
|
Intra
|
EBP | Q15125 | DEFB127 | Homo sapiens | Q9H1M4 | 32296183 | |
|
Intra
|
EBP | Q15125 | SLC38A7 | Homo sapiens | Q9NVC3 | 32296183 | |
|
Intra
|
EBP | Q15125 | TMEM242 | Homo sapiens | Q9NWH2 | 32296183 | |
|
Intra
|
EBP | Q15125 | NINJ2 | Homo sapiens | Q9NZG7 | 32296183 | |
|
Intra
|
EBP | Q15125 | SERP1 | Homo sapiens | Q9Y6X1 | 32296183 | |
|
Intra
|
EBP | Q15125 | ORMDL1 | Homo sapiens | Q9P0S3 | 32296183 | |
|
Intra
|
EBP | Q15125 | VAPA | Homo sapiens | Q9P0L0 | 32296183 | |
|
Intra
|
EBP | Q15125 | ORMDL2 | Homo sapiens | Q53FV1 | 32296183 | |
|
Intra
|
EBP | Q15125 | FA2H | Homo sapiens | Q7L5A8 | 32296183 | |
|
Intra
|
EBP | Q15125 | TLCD1 | Homo sapiens | Q96CP7 | 32296183 | |
|
Intra
|
EBP | Q15125 | ARL13B | Homo sapiens | Q3SXY8 | 32296183 | |
|
Intra
|
EBP | Q15125 | ARL13B | Homo sapiens | Q3SXY8 | 32296183 | |
|
Intra
|
EBP | Q15125 | ARL13B | Homo sapiens | Q3SXY8 | 32296183 | |
|
Intra
|
EBP | Q15125 | TMEM239 | Homo sapiens | Q8WW34-2 | 32296183 | |
|
Intra
|
EBP | Q15125 | PLPP6 | Homo sapiens | Q8IY26 | 32296183 | |
|
Intra
|
EBP | Q15125 | ARV1 | Homo sapiens | Q9H2C2 | 32296183 | |
|
Intra
|
EBP | Q15125 | TMEM254 | Homo sapiens | Q8TBM7 | 32296183 | |
|
Intra
|
EBP | Q15125 | SNORC | Homo sapiens | Q6UX34 | 32296183 | |
|
Intra
|
EBP | Q15125 | CLDND2 | Homo sapiens | Q8NHS1 | 32296183 | |
|
Intra
|
EBP | Q15125 | C5orf46 | Homo sapiens | Q6UWT4 | 32296183 | |
|
Intra
|
EBP | Q15125 | GIMAP1 | Homo sapiens | Q8WWP7 | 32296183 | |
|
Intra
|
EBP | Q15125 | C4orf3 | Homo sapiens | Q8WVX3-2 | 32296183 | |
|
Intra
|
EBP | Q15125 | TMEM86A | Homo sapiens | Q8N2M4 | 32296183 | |
|
Intra
|
EBP | Q15125 | TMEM42 | Homo sapiens | Q69YG0 | 32296183 | |
|
Intra
|
EBP | Q15125 | ATP13A1 | Homo sapiens | Q9HD20-3 | 32296183 | |
|
Intra
|
EBP | Q15125 | MS4A13 | Homo sapiens | Q5J8X5 | 32296183 | |
|
Intra
|
EBP | Q15125 | ANKRD46 | Homo sapiens | Q86W74-2 | 32296183 | |
|
Intra
|
EBP | Q15125 | TMEM97 | Homo sapiens | Q5BJF2 | 32296183 | |
|
Intra
|
EBP | Q15125 | FAXDC2 | Homo sapiens | Q96IV6 | 32296183 | |
|
Intra
|
EBP | Q15125 | FAXDC2 | Homo sapiens | Q96IV6 | 32296183 | |
|
Intra
|
EBP | Q15125 | TMEM229B | Homo sapiens | Q8NBD8 | 32296183 | |
|
Intra
|
EBP | Q15125 | TSPO2 | Homo sapiens | Q5TGU0 | 32296183 | |
|
Intra
|
EBP | Q15125 | SLC48A1 | Homo sapiens | Q6P1K1 | 32296183 | |
|
Intra
|
EBP | Q15125 | LTC4S | Homo sapiens | Q16873 | 32296183 | |
|
Intra
|
EBP | Q15125 | LEMD1 | Homo sapiens | Q68G75 | 32296183 | |
|
Intra
|
EBP | Q15125 | TMEM203 | Homo sapiens | Q969S6 | 32296183 | |
|
Intra
|
EBP | Q15125 | SLC35A4 | Homo sapiens | Q96G79 | 32296183 | |
|
Intra
|
EBP | Q15125 | ODF4 | Homo sapiens | Q2M2E3 | 32296183 | |
|
Intra
|
EBP | Q15125 | ODF4 | Homo sapiens | Q2M2E3 | 32296183 | |
|
Intra
|
EBP | Q15125 | ODF4 | Homo sapiens | Q2M2E3 | 32296183 | |
|
Intra
|
EBP | Q15125 | NDUFB11 | Homo sapiens | Q9NX14 | 32296183 | |
|
Intra
|
EBP | Q15125 | OTOP3 | Homo sapiens | Q7RTS5 | 32296183 | |
|
Intra
|
EBP | Q15125 | TMEM208 | Homo sapiens | Q9BTX3 | 32296183 | |
|
Intra
|
EBP | Q15125 | TMEM243 | Homo sapiens | Q9BU79 | 32296183 | |
|
Intra
|
EBP | Q15125 | TLCD4 | Homo sapiens | Q96MV1 | 32296183 | |
|
Intra
|
EBP | Q15125 | TLCD4 | Homo sapiens | Q96MV1 | 32296183 | |
|
Intra
|
EBP | Q15125 | TLCD4 | Homo sapiens | Q96MV1 | 32296183 | |
|
Intra
|
EBP | Q15125 | FETUB | Homo sapiens | Q9UGM5 | 32296183 | |
|
Intra
|
EBP | Q15125 | AQP6 | Homo sapiens | Q13520 | 32296183 | |
|
Intra
|
EBP | Q15125 | AQP6 | Homo sapiens | Q13520 | 32296183 | |
|
Intra
|
EBP | Q15125 | SYS1 | Homo sapiens | Q8N2H4 | 32296183 | |
|
Intra
|
EBP | Q15125 | SLC35G1 | Homo sapiens | Q2M3R5 | 32296183 | |
|
Intra
|
EBP | Q15125 | GPR152 | Homo sapiens | Q8TDT2 | 32296183 | |
|
Intra
|
EBP | Q15125 | GPR152 | Homo sapiens | Q8TDT2 | 32296183 | |
|
Intra
|
EBP | Q15125 | GPR152 | Homo sapiens | Q8TDT2 | 32296183 | |
|
Intra
|
EBP | Q15125 | TREX1 | Homo sapiens | Q9NSU2-1 | 32296183 | |
|
Intra
|
EBP | Q15125 | SFXN5 | Homo sapiens | Q8TD22 | 32296183 | |
|
Intra
|
EBP | Q15125 | CHODL | Homo sapiens | Q9H9P2 | 32296183 | |
|
Intra
|
EBP | Q15125 | CHODL | Homo sapiens | Q9H9P2 | 32296183 | |
|
Intra
|
EBP | Q15125 | CHODL | Homo sapiens | Q9H9P2 | 32296183 | |
|
Intra
|
EBP | Q15125 | TMEM167B | Homo sapiens | Q9NRX6 | 32296183 | |
|
Intra
|
EBP | Q15125 | HSD17B13 | Homo sapiens | Q7Z5P4 | 32296183 | |
|
Intra
|
EBP | Q15125 | HSD17B13 | Homo sapiens | Q7Z5P4 | 32296183 | |
|
Intra
|
EBP | Q15125 | HSD17B13 | Homo sapiens | Q7Z5P4 | 32296183 | |
|
Intra
|
EBP | Q15125 | FAM209A | Homo sapiens | Q5JX71 | 32296183 | |
|
Intra
|
EBP | Q15125 | FAM209A | Homo sapiens | Q5JX71 | 32296183 | |
|
Intra
|
EBP | Q15125 | FAM209A | Homo sapiens | Q5JX71 | 32296183 | |
|
Intra
|
EBP | Q15125 | RNF152 | Homo sapiens | Q8N8N0 | 32296183 | |
|
Intra
|
EBP | Q15125 | TMEM14C | Homo sapiens | Q9P0S9 | 32296183 | |
|
Intra
|
EBP | Q15125 | TMEM86B | Homo sapiens | Q8N661 | 32296183 | |
|
Intra
|
EBP | Q15125 | STX12 | Homo sapiens | Q86Y82 | 32296183 | |
|
Intra
|
EBP | Q15125 | NINJ1 | Homo sapiens | Q92982 | 32296183 | |
|
Intra
|
EBP | Q15125 | ARL6IP6 | Homo sapiens | Q8N6S5 | 32296183 | |
|
Intra
|
EBP | Q15125 | UBIAD1 | Homo sapiens | Q9Y5Z9 | 32296183 | |
|
Intra
|
EBP | Q15125 | EMC6 | Homo sapiens | Q9BV81 | 32296183 | |
|
Intra
|
EBP | Q15125 | LRP10 | Homo sapiens | Q7Z4F1 | 32296183 | |
|
Intra
|
EBP | Q15125 | CD69 | Homo sapiens | Q07108 | 32296183 | |
|
Intra
|
EBP | Q15125 | CD69 | Homo sapiens | Q07108 | 32296183 | |
|
Intra
|
EBP | Q15125 | TMEM140 | Homo sapiens | Q9NV12 | 32296183 | |
|
Intra
|
EBP | Q15125 | TMEM60 | Homo sapiens | Q9H2L4 | 32296183 | |
|
Intra
|
EBP | Q15125 | MFSD6 | Homo sapiens | Q6ZSS7 | 32296183 | |
|
Intra
|
EBP | Q15125 | NAT8 | Homo sapiens | Q9UHE5 | 32296183 | |
|
Intra
|
EBP | Q15125 | FIS1 | Homo sapiens | Q9Y3D6 | 32296183 | |
|
Intra
|
EBP | Q15125 | TMEM222 | Homo sapiens | Q9H0R3 | 32296183 | |
|
Intra
|
EBP | Q15125 | TMEM147 | Homo sapiens | Q9BVK8 | 32296183 | |
|
Intra
|
EBP | Q15125 | LRRC59 | Homo sapiens | Q96AG4 | 32296183 | |
|
Intra
|
EBP | Q15125 | LRRC59 | Homo sapiens | Q96AG4 | 32296183 | |
|
Intra
|
EBP | Q15125 | LRRC59 | Homo sapiens | Q96AG4 | 32296183 | |
|
Intra
|
EBP | Q15125 | SACM1L | Homo sapiens | Q9NTJ5 | 32296183 | |
|
Intra
|
EBP | Q15125 | PLLP | Homo sapiens | Q9Y342 | 32296183 | |
|
Intra
|
EBP | Q15125 | NKG7 | Homo sapiens | Q16617 | 32296183 | |
|
Intra
|
EBP | Q15125 | PVR | Homo sapiens | P15151 | 32296183 | |
|
Intra
|
EBP | Q15125 | PVR | Homo sapiens | P15151 | 32296183 | |
|
Intra
|
EBP | Q15125 | LPCAT2 | Homo sapiens | Q7L5N7 | 32296183 | |
|
Intra
|
EBP | Q15125 | UNC93B1 | Homo sapiens | Q9H1C4 | 32296183 | |
|
Intra
|
EBP | Q15125 | SCAMP4 | Homo sapiens | Q969E2 | 32296183 | |
|
Intra
|
EBP | Q15125 | CD40 | Homo sapiens | P25942 | 32296183 | |
|
Intra
|
EBP | Q15125 | CD40 | Homo sapiens | P25942 | 32296183 | |
|
Intra
|
EBP | Q15125 | GIMAP5 | Homo sapiens | Q96F15 | 32296183 | |
|
Intra
|
EBP | Q15125 | CREB3 | Homo sapiens | O43889-2 | 25910212 | |
|
Intra
|
EBP | Q15125 | CREB3 | Homo sapiens | O43889-2 | 25910212 | |
|
Intra
|
EBP | Q15125 | CREB3 | Homo sapiens | O43889-2 | 25910212 | |
|
Intra
|
EBP | Q15125 | TMEM65 | Homo sapiens | Q6PI78 | 32296183 | |
|
Intra
|
EBP | Q15125 | CREB3L1 | Homo sapiens | Q96BA8 | 32296183 | |
|
Intra
|
EBP | Q15125 | CREB3L1 | Homo sapiens | Q96BA8 | 32296183 | |
|
Intra
|
EBP | Q15125 | CREB3L1 | Homo sapiens | Q96BA8 | 32296183 | |
|
Intra
|
EBP | Q15125 | ERG28 | Homo sapiens | Q9UKR5 | 32296183 | |
|
Intra
|
EBP | Q15125 | FXYD6 | Homo sapiens | Q9H0Q3 | 32296183 | |
|
Intra
|
EBP | Q15125 | FUNDC2 | Homo sapiens | Q9BWH2 | 32296183 | |
|
Intra
|
EBP | Q15125 | NEU1 | Homo sapiens | Q99519 | 32296183 | |
|
Intra
|
EBP | Q15125 | ORMDL3 | Homo sapiens | Q8N138 | 32296183 | |
|
Intra
|
EBP | Q15125 | VAMP3 | Homo sapiens | Q15836 | 32296183 | |
|
Intra
|
EBP | Q15125 | IER3IP1 | Homo sapiens | Q9Y5U9 | 32296183 | |
|
Intra
|
EBP | Q15125 | TMEM51 | Homo sapiens | Q9NW97 | 32296183 | |
|
Intra
|
EBP | Q15125 | STX8 | Homo sapiens | Q9UNK0 | 32296183 | |
|
Intra
|
EBP | Q15125 | STX8 | Homo sapiens | Q9UNK0 | 32296183 | |
|
Intra
|
EBP | Q15125 | TMEM120A | Homo sapiens | Q9BXJ8 | 32296183 | |
|
Intra
|
EBP | Q15125 | SMIM3 | Homo sapiens | Q9BZL3 | 32296183 | |
|
Intra
|
EBP | Q15125 | USE1 | Homo sapiens | Q9NZ43 | 32296183 | |
|
Intra
|
EBP | Q15125 | SERP2 | Homo sapiens | Q8N6R1 | 32296183 | |
|
Intra
|
EBP | Q15125 | YIPF6 | Homo sapiens | Q96EC8 | 32296183 | |
|
Intra
|
EBP | Q15125 | YIPF4 | Homo sapiens | Q9BSR8 | 32296183 | |
|
Intra
|
EBP | Q15125 | UNC50 | Homo sapiens | Q53HI1 | 32296183 | |
|
Intra
|
EBP | Q15125 | ERGIC3 | Homo sapiens | Q9Y282 | 32296183 | |
|
Intra
|
EBP | Q15125 | ERGIC3 | Homo sapiens | Q9Y282 | 32296183 | |
|
Intra
|
EBP | Q15125 | ERGIC3 | Homo sapiens | Q9Y282 | 32296183 | |
|
Intra
|
EBP | Q15125 | YIPF1 | Homo sapiens | Q9Y548 | 32296183 | |
|
Intra
|
EBP | Q15125 | INSIG2 | Homo sapiens | Q9Y5U4 | 32296183 | |
|
Intra
|
EBP | Q15125 | RUSF1 | Homo sapiens | Q96GQ5 | 32296183 | |
|
Intra
|
EBP | Q15125 | TMEM14B | Homo sapiens | Q9NUH8 | 32296183 | |
|
Intra
|
EBP | Q15125 | TMEM14B | Homo sapiens | Q9NUH8 | 32296183 | |
|
Intra
|
EBP | Q15125 | DNAJC30 | Homo sapiens | Q96LL9 | 32296183 | |
|
Intra
|
EBP | Q15125 | SMCO4 | Homo sapiens | Q9NRQ5 | 32296183 | |
|
Intra
|
EBP | Q15125 | TMEM100 | Homo sapiens | Q9NV29 | 32296183 | |
|
Intra
|
EBP | Q15125 | BTN2A2 | Homo sapiens | Q8WVV5 | 32296183 | |
|
Intra
|
EBP | Q15125 | CCDC167 | Homo sapiens | Q9P0B6 | 32296183 | |
|
Intra
|
EBP | Q15125 | TBC1D20 | Homo sapiens | Q96BZ9 | 32296183 | |
|
Intra
|
EBP | Q15125 | UBE2J1 | Homo sapiens | Q9Y385 | 32296183 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Mend Syndrome |
|
|
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
|
| X-Linked Chondrodysplasia Punctata 2 |
|
|
| Chondrodysplasia Punctata Syndrome |
|
|
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
|
| Connective Tissue Disease |
|
|
| X-Linked Chondrodysplasia Punctata 1 |
|
|
| Greenberg Dysplasia |
|
|
| Ck Syndrome |
|
|
| Toxicodendron Dermatitis |
|
|
| Ichthyosis |
|
|
| Facial Neuralgia |
|
|
| Skin Atrophy |
|
|
| Smith-Lemli-Opitz Syndrome |
|
|
| Scoliosis |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | EBP | RGD | RGD:620957 |
| Mus musculus | EBP | MGD | MGI:107822 |
| Bos taurus | EBP | VGNC | VGNC:54880 |
| Others | EBP | NCBI |