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	25924
Gene name	Myosin VIIA and Rab interacting protein
Gene symbol	MYRIP
Synonyms (NCBI Gene)	SLAC2-CSLAC2C
Chromosome	3
Chromosome location	3p22.1

Show/Hide all (31)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027872	hsa-miR-96-5p	RNA-seq	32915890
MIRT1170494	hsa-miR-3140-3p	CLIP-seq
MIRT2049144	hsa-miR-1914	CLIP-seq
MIRT2049145	hsa-miR-3942-3p	CLIP-seq
MIRT2049146	hsa-miR-4690-5p	CLIP-seq
MIRT2049147	hsa-miR-4789-3p	CLIP-seq
MIRT2278193	hsa-miR-129-5p	CLIP-seq
MIRT2278194	hsa-miR-1299	CLIP-seq
MIRT2278195	hsa-miR-2278	CLIP-seq
MIRT1170494	hsa-miR-3140-3p	CLIP-seq
MIRT2278196	hsa-miR-3179	CLIP-seq
MIRT2049145	hsa-miR-3942-3p	CLIP-seq
MIRT2278197	hsa-miR-4427	CLIP-seq
MIRT2049146	hsa-miR-4690-5p	CLIP-seq
MIRT2278198	hsa-miR-628-5p	CLIP-seq
MIRT2278199	hsa-miR-656	CLIP-seq
MIRT2278200	hsa-miR-875-3p	CLIP-seq
MIRT2391299	hsa-miR-214	CLIP-seq
MIRT2391300	hsa-miR-3619-5p	CLIP-seq
MIRT2049146	hsa-miR-4690-5p	CLIP-seq
MIRT2391301	hsa-miR-761	CLIP-seq
MIRT2454747	hsa-miR-1243	CLIP-seq
MIRT2454748	hsa-miR-3654	CLIP-seq
MIRT2454749	hsa-miR-3668	CLIP-seq
MIRT2454750	hsa-miR-4699-5p	CLIP-seq
MIRT2454751	hsa-miR-7	CLIP-seq
MIRT2454747	hsa-miR-1243	CLIP-seq
MIRT2454748	hsa-miR-3654	CLIP-seq
MIRT2454749	hsa-miR-3668	CLIP-seq
MIRT2454750	hsa-miR-4699-5p	CLIP-seq
MIRT2454751	hsa-miR-7	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000145	Component	Exocyst	IEA
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0003779	Function	Actin binding	IBA
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	11964381, 17827149, 25416956, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006886	Process	Intracellular protein transport	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	NAS	11964381
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0017022	Function	Myosin binding	IBA
GO:0017022	Function	Myosin binding	IEA
GO:0030133	Component	Transport vesicle	IEA
GO:0030864	Component	Cortical actin cytoskeleton	IBA
GO:0031045	Component	Dense core granule	ISS
GO:0031267	Function	Small GTPase binding	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032024	Process	Positive regulation of insulin secretion	ISS
GO:0042470	Component	Melanosome	IEA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0051018	Function	Protein kinase A binding	IEA

MIM	HGNC	e!Ensembl
611790	19156	ENSG00000170011

Q8NFW9

Protein name

Rab effector MyRIP (Exophilin-8) (Myosin-VIIa- and Rab-interacting protein) (Synaptotagmin-like protein lacking C2 domains C) (SlaC2-c) (Slp homolog lacking C2 domains c)

Protein function

Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor proteins MYO5A and MYO7A. May link RAB27A-containing vesicles to actin filaments. Functions as a protein kinase A-anchoring prote

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02318	FYVE_2	8 → 125	FYVE-type zinc finger	Family
PF04698	Rab_eff_C	152 → 859	Rab effector MyRIP/melanophilin C-terminus	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in brain, skin, heart, adrenal medulla, pancreas, intestine, liver, kidney, muscle and testis.

Sequence

MGRKLDLSGLTDDETEHVLQVVQRDFNLRKKEEERLSELKQKLDEEGSKCSILSKHQQFV
EHCCMRCCSPFTFLVNTKRQCGDCKFNVCKSCCSYQKHEKAWVCCVCQQARLLRAQSLEW
FYNNVKSRFKRFGSAKVLKNLYRKHRLESGACFDILGGSLFESNLENEGSISGSDSTFYR
QSEGHSVMDTLAVALRVAEEAIEEAISKAEAYGDSLDKQNEASYLRDHKEELTEELATTI
LQKIIRKQKSKSEQQVEEEPGWPHPQSCSTKVADEGTSASPGGYRAPAALWRSQSAFSIT
GEEALKTPPVEAPSRQPRDQGQHPRAESALPSWKSVDRLDETNLAPVLQSPDGNWVALKD
GAPPPTRLLAKPKSGTFQALEVASSVASAYDEMGSDSEEDFDWSEALSKLCPRSRALPRN
PQPQPTQAQSSDQGPIAASPSSALSPNPEAMCSDSETSSAGSSREVGHQARLSWLQRKAP
RNPAAEKMRLHGELDVNFNPQLASRETSDSSEPEEAPHTTDRRARRWRRARLGSEEPSKE
PSSPSAQLRDLDTHQVSDDLSETDISNEARDPQTLTDTTEEKRRNRLYELAMKMSEKETS
SGEDQESEPKTESENQKESLSSEDNSQSVQEELKKKFSAVSLCNISTEVLKVINATEELI
AGSTGPWESPQVPPDRQKGMFPRGTDQVRLDEQLTSLEENVYLAAGTVYGLETQLTELED
AARCIHSGTDETHLADLEDQVATAAAQVHHAELQISDIESRISALTIAGLNIAPCVRFTR
RRDQKQRTQVQTIDTSRQQRRKLPAPPVKAEKIETSSVTTIKTFNHNFILQGSSTNRTKE
RKGTTKDLMEPALESAVMY

Sequence length

859

Interactions

View interactions

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)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE REPRODUCTIVE SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED CONNECTIVE TISSUE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY EDEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (12)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Age related macular degeneration	Age-related macular degeneration	BEFREE	20861866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22065898	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	26345967	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24135790		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24135790	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24135790		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22065898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	20861866	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	20861866	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	26345967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	26345967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26345967	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

MYRIP (myosin VIIA and Rab interacting protein)