Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
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. [

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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
MIRT022302	hsa-miR-124-3p	PAR-CLIP	20371350
MIRT563827	hsa-miR-5582-5p	PAR-CLIP	20371350
MIRT563826	hsa-miR-4709-5p	PAR-CLIP	20371350
MIRT563825	hsa-miR-5003-5p	PAR-CLIP	20371350
MIRT563824	hsa-miR-545-5p	PAR-CLIP	20371350
MIRT563823	hsa-miR-1827	PAR-CLIP	20371350
MIRT563830	hsa-miR-548an	PAR-CLIP	20371350
MIRT563829	hsa-miR-6768-3p	PAR-CLIP	20371350
MIRT563828	hsa-miR-4484	PAR-CLIP	20371350
MIRT022302	hsa-miR-124-3p	PAR-CLIP	20371350
MIRT563827	hsa-miR-5582-5p	PAR-CLIP	20371350
MIRT563826	hsa-miR-4709-5p	PAR-CLIP	20371350
MIRT563825	hsa-miR-5003-5p	PAR-CLIP	20371350
MIRT563824	hsa-miR-545-5p	PAR-CLIP	20371350
MIRT563823	hsa-miR-1827	PAR-CLIP	20371350
MIRT1307636	hsa-miR-1324	CLIP-seq
MIRT1307637	hsa-miR-214	CLIP-seq
MIRT1307638	hsa-miR-3135	CLIP-seq
MIRT1307639	hsa-miR-3161	CLIP-seq
MIRT1307640	hsa-miR-3619-5p	CLIP-seq
MIRT1307641	hsa-miR-3665	CLIP-seq
MIRT1307642	hsa-miR-4678	CLIP-seq
MIRT1307643	hsa-miR-4746-5p	CLIP-seq
MIRT1307644	hsa-miR-548ag	CLIP-seq
MIRT1307645	hsa-miR-548ai	CLIP-seq
MIRT1307646	hsa-miR-664	CLIP-seq
MIRT1307647	hsa-miR-761	CLIP-seq
MIRT1307648	hsa-miR-764	CLIP-seq
MIRT2091170	hsa-miR-124	CLIP-seq
MIRT2091171	hsa-miR-506	CLIP-seq
MIRT2315925	hsa-miR-105	CLIP-seq
MIRT2091170	hsa-miR-124	CLIP-seq
MIRT2315926	hsa-miR-125a-3p	CLIP-seq
MIRT2315927	hsa-miR-1302	CLIP-seq
MIRT1307636	hsa-miR-1324	CLIP-seq
MIRT2315928	hsa-miR-208a	CLIP-seq
MIRT2315929	hsa-miR-208b	CLIP-seq
MIRT1307637	hsa-miR-214	CLIP-seq
MIRT2315930	hsa-miR-23a	CLIP-seq
MIRT2315931	hsa-miR-23b	CLIP-seq
MIRT2315932	hsa-miR-23c	CLIP-seq
MIRT2315933	hsa-miR-28-5p	CLIP-seq
MIRT1307638	hsa-miR-3135	CLIP-seq
MIRT2315934	hsa-miR-3139	CLIP-seq
MIRT2315935	hsa-miR-3143	CLIP-seq
MIRT2315936	hsa-miR-3145-3p	CLIP-seq
MIRT2315937	hsa-miR-3183	CLIP-seq
MIRT2315938	hsa-miR-3617	CLIP-seq
MIRT1307640	hsa-miR-3619-5p	CLIP-seq
MIRT2315939	hsa-miR-3658	CLIP-seq
MIRT1307641	hsa-miR-3665	CLIP-seq
MIRT2315940	hsa-miR-3913-3p	CLIP-seq
MIRT2315941	hsa-miR-4266	CLIP-seq
MIRT2315942	hsa-miR-4298	CLIP-seq
MIRT2315943	hsa-miR-455-3p	CLIP-seq
MIRT2315944	hsa-miR-4645-3p	CLIP-seq
MIRT2315945	hsa-miR-4650-5p	CLIP-seq
MIRT2315946	hsa-miR-4670-3p	CLIP-seq
MIRT2315947	hsa-miR-4670-5p	CLIP-seq
MIRT2315948	hsa-miR-4723-3p	CLIP-seq
MIRT2315949	hsa-miR-4757-5p	CLIP-seq
MIRT2315950	hsa-miR-4786-5p	CLIP-seq
MIRT2315951	hsa-miR-4803	CLIP-seq
MIRT2315952	hsa-miR-489	CLIP-seq
MIRT2315953	hsa-miR-498	CLIP-seq
MIRT2315954	hsa-miR-499-5p	CLIP-seq
MIRT2091171	hsa-miR-506	CLIP-seq
MIRT2315955	hsa-miR-542-3p	CLIP-seq
MIRT2315956	hsa-miR-551a	CLIP-seq
MIRT2315957	hsa-miR-551b	CLIP-seq
MIRT2315958	hsa-miR-552	CLIP-seq
MIRT2315959	hsa-miR-641	CLIP-seq
MIRT2315960	hsa-miR-660	CLIP-seq
MIRT2315961	hsa-miR-708	CLIP-seq
MIRT1307647	hsa-miR-761	CLIP-seq
MIRT1307648	hsa-miR-764	CLIP-seq
MIRT2432753	hsa-miR-3163	CLIP-seq
MIRT2432754	hsa-miR-340	CLIP-seq
MIRT2432755	hsa-miR-3688-3p	CLIP-seq
MIRT2432756	hsa-miR-4261	CLIP-seq
MIRT2689778	hsa-miR-1976	CLIP-seq
MIRT2689779	hsa-miR-3130-3p	CLIP-seq
MIRT2689780	hsa-miR-4279	CLIP-seq

Show/Hide all (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
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0043588	Process	Skin development	IEA
GO:0043588	Process	Skin development	ISS
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IMP	21931591
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106310	Function	Protein serine kinase activity	ISS

MIM	HGNC	e!Ensembl
605706	496	ENSG00000183421

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
RPELPPVCRARPRACSHLIRLMQRCWQGDPRVRPTFQGNGLNGELIRQVLAALLPVTGRW
RSPGEGFRLESEVIIRVTCPLSSPQEITSETEDLCEKPDDEVKETAHDLDVKSPPEPRSE
VVPARLKRASAPTFDNDYSLSELLSQLDSGVSQAVEGPEELSRSSSESKLPSSGSGKRLS
GVSSVDSAFSSRGSLSLSFEREPSTSDLGTTDVQKKKLVDAIVSGDTSKLMKILQPQDVD
LALDSGASLLHLAVEAGQEECAKWLLLNNANPNLSNRRGSTPLHMAVERRVRGVVELLLA
RKISVNAKDEDQWTALHFAAQNGDESSTRLLLEKNASVNEVDFEGRTPMHVACQHGQENI
VRILLRRGVDVSLQGKDAWLPLHYAAWQGHLPIVKLLAKQPGVSVNAQTLDGRTPLHLAA
QRGHYRVARILIDLCSDVNVCSLLAQTPLHVAAETGHTSTARLLLHRGAGKEAMTSDGYT
ALHLAARNGHLATVKLLVEEKADVLARGPLNQTALHLAAAHGHSEVVEELVSADVIDLFD
EQGLSALHLAAQGRHAQTVETLLRHGAHINLQSLKFQGGHGPAATLLRRSKT

Sequence length

832

Interactions

View interactions

193

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Bartsocas-Papas syndrome 1	Likely pathogenic; Pathogenic	rs891831110, rs387906921, rs387906922, rs387906923, rs1354268287, rs1569100177	RCV001706914 RCV000023468 RCV000023469 RCV000023470 RCV000023471 RCV000710016
Curly hair, ankyloblepharon, nail dysplasia syndrome	Pathogenic	rs199835696	RCV000710015

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Conflicting classifications of pathogenicity	rs146341788	RCV005905857
Gastric cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	rs61744790, rs146341788	RCV005906041 RCV005905858
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs146341788	RCV005905856
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs146341788	RCV005905855
Popliteal pterygium syndrome	Uncertain significance; Benign	rs886057083, rs34075882, rs774016517	RCV000311475 RCV000314725 RCV000288676
RIPK4-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs55812846, rs35537517, rs2517319088, rs563351959, rs2146046679, rs151032253, rs146788763, rs147543398, rs150110999, rs143972232, rs147337665, rs145132650, rs1356031463, rs61740535, rs55645753 View all (11 more)	RCV003937536 RCV003919909 RCV003402104 RCV003896958 RCV003894597 RCV003906941 RCV003901603 RCV003943951 RCV003963953 RCV003917213 RCV003937273 RCV003961397 RCV003956994 RCV003957238 RCV003912430 RCV003922484 RCV003932359 RCV003910324 RCV003897771 RCV003950178 RCV003932360 RCV003960865 RCV003926211 RCV003958382 RCV004753110 RCV003970503 RCV003906256
Uterine corpus endometrial carcinoma	Benign	rs115041500	RCV005913868

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

RIPK4 (receptor interacting serine/threonine kinase 4)