CDH11 Chromosome 16
Cadherin 11
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What This Gene Does
This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Expression of this particular cadherin in osteoblastic cell lines, and its upregulation during differentiation, suggests a specific function in bone development and maintenance. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Type II classical cadherins
Locus Type
gene with protein product
Location
16q21
Ensembl
ENSG00000140937
Associated Conditions (2)
Teebi hypertelorism syndrome 2
Elsahy-Waters syndrome
Key Variants
RS1177793851
Likely pathogenic
Health Risk
RS2071263125
Likely pathogenic
Health Risk
RS2142492118
Likely pathogenic
Teebi hypertelorism syndrome 2, Elsahy-Waters syndrome, Elsahy-Waters syndrome
Health Risk
RS2506828315
Likely pathogenic
Health Risk
RS2506893332
Likely pathogenic
Teebi hypertelorism syndrome 2, Teebi hypertelorism syndrome 2
Health Risk
RS1000294766
Pathogenic
Teebi hypertelorism syndrome 2, Teebi hypertelorism syndrome 2
Health Risk
RS1555514463
Pathogenic
Elsahy-Waters syndrome, Elsahy-Waters syndrome
Health Risk
RS1555515331
Pathogenic
Elsahy-Waters syndrome, Elsahy-Waters syndrome
Health Risk
RS1555515924
Pathogenic
Elsahy-Waters syndrome, Elsahy-Waters syndrome
Health Risk
RS2142459670
Pathogenic
Teebi hypertelorism syndrome 2, Teebi hypertelorism syndrome 2
Health Risk
RS2142480699
Pathogenic
Teebi hypertelorism syndrome 2, Teebi hypertelorism syndrome 2
Health Risk
RS2142481275
Pathogenic
Teebi hypertelorism syndrome 2, Teebi hypertelorism syndrome 2
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1177793851 | Health Risk | Likely pathogenic | — |
| RS2071263125 | Health Risk | Likely pathogenic | — |
| RS2142492118 | Health Risk | Likely pathogenic | Teebi hypertelorism syndrome 2, Elsahy-Waters syndrome, Elsahy-Waters syndrome |
| RS2506828315 | Health Risk | Likely pathogenic | — |
| RS2506893332 | Health Risk | Likely pathogenic | Teebi hypertelorism syndrome 2, Teebi hypertelorism syndrome 2 |
| RS1000294766 | Health Risk | Pathogenic | Teebi hypertelorism syndrome 2, Teebi hypertelorism syndrome 2 |
| RS1555514463 | Health Risk | Pathogenic | Elsahy-Waters syndrome, Elsahy-Waters syndrome |
| RS1555515331 | Health Risk | Pathogenic | Elsahy-Waters syndrome, Elsahy-Waters syndrome |
| RS1555515924 | Health Risk | Pathogenic | Elsahy-Waters syndrome, Elsahy-Waters syndrome |
| RS2142459670 | Health Risk | Pathogenic | Teebi hypertelorism syndrome 2, Teebi hypertelorism syndrome 2 |
| RS2142480699 | Health Risk | Pathogenic | Teebi hypertelorism syndrome 2, Teebi hypertelorism syndrome 2 |
| RS2142481275 | Health Risk | Pathogenic | Teebi hypertelorism syndrome 2, Teebi hypertelorism syndrome 2 |
| RS2142528709 | Health Risk | Pathogenic | Teebi hypertelorism syndrome 2, Teebi hypertelorism syndrome 2 |