Gene Gene information from NCBI Gene database.
Entrez ID 54101
Gene name Receptor interacting serine/threonine kinase 4
Gene symbol RIPK4
Synonyms (NCBI Gene)
ANKK2ANKRD3CHANDSDIKNKRD3PKKPPS2RIP4
Chromosome 21
Chromosome location 21q22.3
Summary 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. [
miRNA miRNA information provided by mirtarbase database.
88
miRTarBase ID miRNA Experiments Reference
MIRT022302 hsa-miR-124-3p Microarray 18668037
MIRT029009 hsa-miR-26b-5p Microarray 19088304
MIRT563830 hsa-miR-548an PAR-CLIP 20371350
MIRT563829 hsa-miR-6768-3p PAR-CLIP 20371350
MIRT563828 hsa-miR-4484 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002009 Process Morphogenesis of an epithelium IMP 22197488
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IEA
GO:0005515 Function Protein binding IPI 21931591, 23371553, 26972000, 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605706 496 ENSG00000183421
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P57078
Protein name Receptor-interacting serine/threonine-protein kinase 4 (EC 2.7.11.1) (Ankyrin repeat domain-containing protein 3) (PKC-delta-interacting protein kinase)
Protein function Serine/threonine protein kinase (By similarity). Required for embryonic skin development and correct skin homeostasis in adults, via phosphorylation of PKP1 and subsequent promotion of keratinocyte differentiation and cell adhesion (By similarit
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 22 282 Protein kinase domain Domain
PF12796 Ank_2 458 549 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 532 615 Ankyrin repeats (3 copies) Repeat
PF13637 Ank_4 618 672 Repeat
PF12796 Ank_2 674 748 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 745 813 Ankyrin repeats (3 copies) Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in hair follicles and skin. {ECO:0000269|PubMed:26129644}.
Sequence
MEGDGGTPWALALLRTFDAGEFTGWEKVGSGGFGQVYKVRHVHWKTWLAIKCSPSLHVDD
RERMELLEEAKKMEMAKFRYILPVYGICREPVGLVMEYMETGSLEKLLASEPLPWDLRFR
IIHETAVGMNFLHCMAPPLLHLDLKPANILLDAHYHVKISDFGLAKCNGLSHSHDLSMDG
LFGTIAYLPPERIREKSRLFDTKHDVYSFAIVIWGVLTQKKPFADEKNILHIMVKVVKGH
RPELPPVCRARPRACSHLIRLMQRCWQGDPRVRPTFQGNGLN
GELIRQVLAALLPVTGRW
RSPGEGFRLESEVIIRVTCPLSSPQEITSETEDLCEKPDDEVKETAHDLDVKSPPEPRSE
VVPARLKRASAPTFDNDYSLSELLSQLDSGVSQAVEGPEELSRSSSESKLPSSGSGKRLS
GVSSVDSAFSSRGSLSLSFEREPSTSDLGTTDVQKKKLVDAIVSGDTSKLMKILQPQDVD
LALDSGASLLHLAVEAGQEECAKWLLLNNANPNLSNRRGSTPLHMAVERRV
RGVVELLLA
RKISVNAKD
EDQWTALHFAAQNGDESSTRLLLEKNASVNEVDFEGRTPMHVACQHGQENI
VRILLRRGVDVSLQG
KDAWLPLHYAAWQGHLPIVKLLAKQPGVSVNAQTLDGRTPLHLAA
QRGHYRVARILI
DLCSDVNVCSLLAQTPLHVAAETGHTSTARLLLHRGAGKEAMTSDGYT
ALHLAARNGHLATVKLLVEEKADV
LARGPLNQTALHLAAAHGHSEVVEELVSADVIDLFD
EQGLSALHLAAQGRHAQTVETLLRHGAHINLQS
LKFQGGHGPAATLLRRSKT
Sequence length 832
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Bartsocas-Papas syndrome 1 Likely pathogenic; Pathogenic rs891831110, rs387906921, rs387906922, rs387906923, rs1354268287, rs1569100177 RCV001706914
RCV000023468
RCV000023469
RCV000023470
RCV000023471
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Curly hair, ankyloblepharon, nail dysplasia syndrome Pathogenic rs199835696 RCV000710015
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BARTSOCAS-PAPAS SYNDROME Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Absent eyebrow Absent eyebrow HPO_DG
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28574510
★☆☆☆☆
Found in Text Mining only
Alopecia totalis Alopecia HPO_DG
★☆☆☆☆
Found in Text Mining only
Ambiguous Genitalia Ambiguous Genitalia HPO_DG
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 28574510
★☆☆☆☆
Found in Text Mining only
Anodontia of Permanent Dentition Anodontia HPO_DG
★☆☆☆☆
Found in Text Mining only
ANONYCHIA Anonychia HPO_DG
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma LHGDN 18025152
★☆☆☆☆
Found in Text Mining only
Bartsocas-Papas syndrome Bartsocas-Papas Syndrome Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm Bladder Neoplasm BEFREE 31579820
★☆☆☆☆
Found in Text Mining only