|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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54101
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
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Receptor interacting serine/threonine kinase 4 |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
RIPK4 |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
|
ANKK2, ANKRD3, CHANDS, DIK, NKRD3, PKK, PPS2, RIP4 |
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Chromosome
Chromosome number
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21 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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21q22.3 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
|
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. [ |
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Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Bartsocas-Papas Syndrome |
Bartsocas-Papas syndrome 1 |
rs387906921, rs387906922, rs387906923, rs1569100177 |
N/A |
| curly hair, ankyloblepharon, nail dysplasia syndrome |
Curly hair, ankyloblepharon, nail dysplasia syndrome |
rs199835696 |
N/A |
|
|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Breast Cancer |
Postmenopausal breast cancer |
N/A |
N/A |
GWAS |
| Ectodermal Dysplasia |
ectodermal dysplasia syndrome |
N/A |
N/A |
GenCC |
| Popliteal Pterygium Syndrome |
popliteal pterygium syndrome |
N/A |
N/A |
ClinVar |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
28574510 |
| Adenocarcinoma of Lung |
Associate
|
28574510, 35907206 |
| Carcinogenesis |
Associate
|
35186499 |
| Carcinoma Squamous Cell |
Associate
|
26148476, 35186499 |
| Down Syndrome |
Associate
|
23783273 |
| Epidermal Cyst |
Associate
|
25246526 |
| Haspeslagh Fryns Muelenaere syndrome |
Associate
|
25691407 |
| Hay Wells syndrome |
Associate
|
29523099 |
| Heart Defects Congenital |
Associate
|
23783273 |
| Immune System Diseases |
Associate
|
29523099 |
| Immunologic Deficiency Syndromes |
Associate
|
29523099 |
| Inflammation |
Associate
|
24519546, 35186499 |
| Leukemia |
Associate
|
21044360 |
| Lung Neoplasms |
Inhibit
|
28574510 |
| Lymphatic Metastasis |
Stimulate
|
27697098 |
| Melanoma |
Associate
|
39766280 |
| Neoplasm Metastasis |
Associate
|
32016450, 34124253 |
| Neoplasms |
Associate
|
26148476, 28574510, 35186499, 35310605, 38179758, 39766280 |
| Neoplasms |
Stimulate
|
27697098, 32016450 |
| Neoplasms |
Inhibit
|
28574510 |
| Osteoarthritis |
Associate
|
29257245 |
| Ovarian Neoplasms |
Associate
|
33487072, 33855091, 34124253, 35310605, 38179758 |
| Pancreatic Neoplasms |
Associate
|
16036106 |
| Popliteal Pterygium Syndrome |
Associate
|
25246526, 25691407 |
| Popliteal Pterygium Syndrome Lethal Type |
Associate
|
25246526, 25691407 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
24519546 |
| Squamous Intraepithelial Lesions |
Stimulate
|
26148476 |
| Tongue Neoplasms |
Inhibit
|
24519546 |
| Urinary Bladder Neoplasms |
Associate
|
29867225 |
| Uterine Cervical Neoplasms |
Associate
|
26148476, 27697098 |
| Uterine Cervicitis |
Stimulate
|
26148476 |
|