RIPK4 Chromosome 21
Receptor interacting serine/threonine kinase 4
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What This Gene Does
The protein encoded by this gene is a serine/threonine protein kinase that interacts with protein kinase C-delta. The encoded protein can also activate NFkappaB and is required for keratinocyte differentiation. This kinase undergoes autophosphorylation. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Ankyrin repeat domain containing|MicroRNA protein coding host genes|Receptor interacting serine/threonine kinase family"
Locus Type
gene with protein product
Location
21q22.3
Ensembl
ENSG00000183421
Associated Conditions (10)
Bartsocas-Papas syndrome 1
Gastric cancer
Malignant tumor of urinary bladder
Hepatocellular carcinoma
Cervical cancer
Inborn genetic diseases
RIPK4-related disorder
Curly hair
ankyloblepharon
nail dysplasia syndrome
Key Variants
RS138268998
Conflicting classifications of pathogenicity
Bartsocas-Papas syndrome 1, Bartsocas-Papas syndrome 1
Health Risk
RS146341788
Conflicting classifications of pathogenicity
Bartsocas-Papas syndrome 1, Gastric cancer, Malignant tumor of urinary bladder
Health Risk
RS147930789
Conflicting classifications of pathogenicity
Inborn genetic diseases, RIPK4-related disorder, Inborn genetic diseases
Health Risk
RS200420912
Conflicting classifications of pathogenicity
Bartsocas-Papas syndrome 1, RIPK4-related disorder, Bartsocas-Papas syndrome 1
Health Risk
RS201802815
Conflicting classifications of pathogenicity
Bartsocas-Papas syndrome 1, Bartsocas-Papas syndrome 1
Health Risk
RS55645753
Conflicting classifications of pathogenicity
Bartsocas-Papas syndrome 1, RIPK4-related disorder, Bartsocas-Papas syndrome 1
Health Risk
RS55798804
Conflicting classifications of pathogenicity
Bartsocas-Papas syndrome 1, RIPK4-related disorder, Bartsocas-Papas syndrome 1
Health Risk
RS577583084
Conflicting classifications of pathogenicity
Bartsocas-Papas syndrome 1, Bartsocas-Papas syndrome 1
Health Risk
RS61739694
Conflicting classifications of pathogenicity
Bartsocas-Papas syndrome 1, RIPK4-related disorder, Bartsocas-Papas syndrome 1
Health Risk
RS2146066005
Likely pathogenic
Health Risk
RS891831110
Likely pathogenic
Bartsocas-Papas syndrome 1, Bartsocas-Papas syndrome 1
Health Risk
RS1354268287
Pathogenic
Bartsocas-Papas syndrome 1, Bartsocas-Papas syndrome 1
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138268998 | Health Risk | Conflicting classifications of pathogenicity | Bartsocas-Papas syndrome 1, Bartsocas-Papas syndrome 1 |
| RS146341788 | Health Risk | Conflicting classifications of pathogenicity | Bartsocas-Papas syndrome 1, Gastric cancer, Malignant tumor of urinary bladder |
| RS147930789 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, RIPK4-related disorder, Inborn genetic diseases |
| RS200420912 | Health Risk | Conflicting classifications of pathogenicity | Bartsocas-Papas syndrome 1, RIPK4-related disorder, Bartsocas-Papas syndrome 1 |
| RS201802815 | Health Risk | Conflicting classifications of pathogenicity | Bartsocas-Papas syndrome 1, Bartsocas-Papas syndrome 1 |
| RS55645753 | Health Risk | Conflicting classifications of pathogenicity | Bartsocas-Papas syndrome 1, RIPK4-related disorder, Bartsocas-Papas syndrome 1 |
| RS55798804 | Health Risk | Conflicting classifications of pathogenicity | Bartsocas-Papas syndrome 1, RIPK4-related disorder, Bartsocas-Papas syndrome 1 |
| RS577583084 | Health Risk | Conflicting classifications of pathogenicity | Bartsocas-Papas syndrome 1, Bartsocas-Papas syndrome 1 |
| RS61739694 | Health Risk | Conflicting classifications of pathogenicity | Bartsocas-Papas syndrome 1, RIPK4-related disorder, Bartsocas-Papas syndrome 1 |
| RS2146066005 | Health Risk | Likely pathogenic | — |
| RS891831110 | Health Risk | Likely pathogenic | Bartsocas-Papas syndrome 1, Bartsocas-Papas syndrome 1 |
| RS1354268287 | Health Risk | Pathogenic | Bartsocas-Papas syndrome 1, Bartsocas-Papas syndrome 1 |
| RS1569100177 | Health Risk | Pathogenic | Bartsocas-Papas syndrome 1, Bartsocas-Papas syndrome 1 |
| RS199835696 | Health Risk | Pathogenic | Curly hair, ankyloblepharon, nail dysplasia syndrome |
| RS387906921 | Health Risk | Pathogenic | Bartsocas-Papas syndrome 1, Bartsocas-Papas syndrome 1 |
| RS387906922 | Health Risk | Pathogenic | Bartsocas-Papas syndrome 1, Bartsocas-Papas syndrome 1 |
| RS387906923 | Health Risk | Pathogenic | Bartsocas-Papas syndrome 1, Bartsocas-Papas syndrome 1 |