EBP Chromosome X
EBP cholestenol delta-isomerase
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What This Gene Does
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]
Gene Info
Gene Group
AEBS complex subunits
Locus Type
gene with protein product
Location
Xp11.23
Ensembl
ENSG00000147155
Associated Conditions (13)
Inborn genetic diseases
MEND syndrome
Chondrodysplasia punctata 2 X-linked dominant
EBP-related disorder
Connective tissue disorder
Intellectual disability
Thyroid cancer
nonmedullary
1
CHONDRODYSPLASIA PUNCTATA 2
X-LINKED DOMINANT
ATYPICAL
Nonpapillary renal cell carcinoma
Key Variants
RS1335777232
Conflicting classifications of pathogenicity
Inborn genetic diseases, MEND syndrome, Chondrodysplasia punctata 2 X-linked dominant
Health Risk
RS141925556
Conflicting classifications of pathogenicity
Chondrodysplasia punctata 2 X-linked dominant, EBP-related disorder, MEND syndrome
Health Risk
RS142881014
Conflicting classifications of pathogenicity
Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
Health Risk
RS144359050
Conflicting classifications of pathogenicity
Connective tissue disorder, Intellectual disability, Connective tissue disorder
Health Risk
RS148792902
Conflicting classifications of pathogenicity
Inborn genetic diseases, EBP-related disorder, Inborn genetic diseases
Health Risk
RS150034611
Conflicting classifications of pathogenicity
Health Risk
RS2147154777
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS587783618
Conflicting classifications of pathogenicity
Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
Health Risk
RS781939301
Conflicting classifications of pathogenicity
Health Risk
RS782257058
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS782638360
Conflicting classifications of pathogenicity
MEND syndrome, Chondrodysplasia punctata 2 X-linked dominant, MEND syndrome
Health Risk
RS953562416
Conflicting classifications of pathogenicity
MEND syndrome, MEND syndrome
Health Risk
All Variants (81)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2147154554 | Health Risk | Pathogenic | — |
| RS2147154613 | Health Risk | Pathogenic | — |
| RS2147154775 | Health Risk | Pathogenic | — |
| RS2147156501 | Health Risk | Pathogenic | — |
| RS2147157078 | Health Risk | Pathogenic | — |
| RS2519111064 | Health Risk | Pathogenic | Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS2519111380 | Health Risk | Pathogenic | — |
| RS2519112476 | Health Risk | Pathogenic | — |
| RS2519522184 | Health Risk | Pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS28935174 | Health Risk | Pathogenic | Chondrodysplasia punctata 2 X-linked dominant, MEND syndrome, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783599 | Health Risk | Pathogenic | Chondrodysplasia punctata 2 X-linked dominant, MEND syndrome, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783600 | Health Risk | Pathogenic | Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783604 | Health Risk | Pathogenic | Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783606 | Health Risk | Pathogenic | Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783608 | Health Risk | Pathogenic | Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783609 | Health Risk | Pathogenic | Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783613 | Health Risk | Pathogenic | Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783615 | Health Risk | Pathogenic | Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783616 | Health Risk | Pathogenic | Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS797045543 | Health Risk | Pathogenic | Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS797045544 | Health Risk | Pathogenic | Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS797045546 | Health Risk | Pathogenic | Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS797045547 | Health Risk | Pathogenic | Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS878854358 | Health Risk | Pathogenic | CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL |
| RS878854359 | Health Risk | Pathogenic | MEND syndrome, MEND syndrome |
| RS104894800 | Health Risk | Pathogenic/Likely pathogenic | Chondrodysplasia punctata 2 X-linked dominant, Connective tissue disorder, Chondrodysplasia punctata 2 X-linked dominant |
| RS1602090481 | Health Risk | Pathogenic/Likely pathogenic | Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS2147154765 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS372974717 | Health Risk | Pathogenic/Likely pathogenic | Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS587783601 | Health Risk | Pathogenic/Likely pathogenic | Chondrodysplasia punctata 2 X-linked dominant, Nonpapillary renal cell carcinoma, Chondrodysplasia punctata 2 X-linked dominant |
| RS886039345 | Health Risk | Pathogenic/Likely pathogenic | MEND syndrome, MEND syndrome |