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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	79083
Gene name	Melanophilin
Gene symbol	MLPH
Synonyms (NCBI Gene)	SLAC2-A
Chromosome	2
Chromosome location	2q37.3
Summary	This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse function

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs119473031	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, synonymous variant, genic upstream transcript variant
rs140470472	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, stop gained
rs786205551	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant
rs786205641	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant

185

Show/Hide all (185)

miRTarBase ID	miRNA	Experiments
MIRT1152414	hsa-miR-1193	CLIP-seq
MIRT1152415	hsa-miR-1229	CLIP-seq
MIRT1152416	hsa-miR-1237	CLIP-seq
MIRT1152417	hsa-miR-1248	CLIP-seq
MIRT1152418	hsa-miR-1252	CLIP-seq
MIRT1152419	hsa-miR-125a-3p	CLIP-seq
MIRT1152420	hsa-miR-1273e	CLIP-seq
MIRT1152421	hsa-miR-128	CLIP-seq
MIRT1152422	hsa-miR-1286	CLIP-seq
MIRT1152423	hsa-miR-1289	CLIP-seq
MIRT1152424	hsa-miR-1302	CLIP-seq
MIRT1152425	hsa-miR-1305	CLIP-seq
MIRT1152426	hsa-miR-134	CLIP-seq
MIRT1152427	hsa-miR-138	CLIP-seq
MIRT1152428	hsa-miR-142-5p	CLIP-seq
MIRT1152429	hsa-miR-144	CLIP-seq
MIRT1152430	hsa-miR-148a	CLIP-seq
MIRT1152431	hsa-miR-148b	CLIP-seq
MIRT1152432	hsa-miR-152	CLIP-seq
MIRT1152433	hsa-miR-186	CLIP-seq
MIRT1152434	hsa-miR-205	CLIP-seq
MIRT1152435	hsa-miR-224	CLIP-seq
MIRT1152436	hsa-miR-2355-3p	CLIP-seq
MIRT1152437	hsa-miR-2392	CLIP-seq
MIRT1152438	hsa-miR-27a	CLIP-seq
MIRT1152439	hsa-miR-27b	CLIP-seq
MIRT1152440	hsa-miR-3118	CLIP-seq
MIRT1152441	hsa-miR-3122	CLIP-seq
MIRT1152442	hsa-miR-3126-5p	CLIP-seq
MIRT1152443	hsa-miR-3140-5p	CLIP-seq
MIRT1152444	hsa-miR-3151	CLIP-seq
MIRT1152445	hsa-miR-3155	CLIP-seq
MIRT1152446	hsa-miR-3155b	CLIP-seq
MIRT1152447	hsa-miR-3169	CLIP-seq
MIRT1152448	hsa-miR-340	CLIP-seq
MIRT1152449	hsa-miR-342-3p	CLIP-seq
MIRT1152450	hsa-miR-3605-5p	CLIP-seq
MIRT1152451	hsa-miR-3607-5p	CLIP-seq
MIRT1152452	hsa-miR-3614-5p	CLIP-seq
MIRT1152453	hsa-miR-3650	CLIP-seq
MIRT1152454	hsa-miR-3652	CLIP-seq
MIRT1152455	hsa-miR-3657	CLIP-seq
MIRT1152456	hsa-miR-3665	CLIP-seq
MIRT1152457	hsa-miR-3681	CLIP-seq
MIRT1152458	hsa-miR-383	CLIP-seq
MIRT1152459	hsa-miR-3907	CLIP-seq
MIRT1152460	hsa-miR-3913-5p	CLIP-seq
MIRT1152461	hsa-miR-3919	CLIP-seq
MIRT1152462	hsa-miR-3936	CLIP-seq
MIRT1152463	hsa-miR-3941	CLIP-seq
MIRT1152464	hsa-miR-3944-5p	CLIP-seq
MIRT1152465	hsa-miR-3978	CLIP-seq
MIRT1152466	hsa-miR-4261	CLIP-seq
MIRT1152467	hsa-miR-4268	CLIP-seq
MIRT1152468	hsa-miR-4298	CLIP-seq
MIRT1152469	hsa-miR-433	CLIP-seq
MIRT1152470	hsa-miR-4419a	CLIP-seq
MIRT1152471	hsa-miR-4427	CLIP-seq
MIRT1152472	hsa-miR-4430	CLIP-seq
MIRT1152473	hsa-miR-4433	CLIP-seq
MIRT1152474	hsa-miR-4436b-5p	CLIP-seq
MIRT1152475	hsa-miR-4448	CLIP-seq
MIRT1152476	hsa-miR-4461	CLIP-seq
MIRT1152477	hsa-miR-4468	CLIP-seq
MIRT1152478	hsa-miR-4491	CLIP-seq
MIRT1152479	hsa-miR-4496	CLIP-seq
MIRT1152480	hsa-miR-4505	CLIP-seq
MIRT1152481	hsa-miR-4509	CLIP-seq
MIRT1152482	hsa-miR-4510	CLIP-seq
MIRT1152483	hsa-miR-4519	CLIP-seq
MIRT1152484	hsa-miR-4533	CLIP-seq
MIRT1152485	hsa-miR-4657	CLIP-seq
MIRT1152486	hsa-miR-466	CLIP-seq
MIRT1152487	hsa-miR-4669	CLIP-seq
MIRT1152488	hsa-miR-4672	CLIP-seq
MIRT1152489	hsa-miR-4687-3p	CLIP-seq
MIRT1152490	hsa-miR-4704-3p	CLIP-seq
MIRT1152491	hsa-miR-4716-5p	CLIP-seq
MIRT1152492	hsa-miR-4722-5p	CLIP-seq
MIRT1152493	hsa-miR-4726-3p	CLIP-seq
MIRT1152494	hsa-miR-4731-3p	CLIP-seq
MIRT1152495	hsa-miR-4740-5p	CLIP-seq
MIRT1152496	hsa-miR-4747-5p	CLIP-seq
MIRT1152497	hsa-miR-4756-3p	CLIP-seq
MIRT1152498	hsa-miR-4775	CLIP-seq
MIRT1152499	hsa-miR-4792	CLIP-seq
MIRT1152500	hsa-miR-4801	CLIP-seq
MIRT1152501	hsa-miR-4803	CLIP-seq
MIRT1152502	hsa-miR-484	CLIP-seq
MIRT1152503	hsa-miR-486-3p	CLIP-seq
MIRT1152504	hsa-miR-488	CLIP-seq
MIRT1152505	hsa-miR-541	CLIP-seq
MIRT1152506	hsa-miR-548m	CLIP-seq
MIRT1152507	hsa-miR-548q	CLIP-seq
MIRT1152508	hsa-miR-578	CLIP-seq
MIRT1152509	hsa-miR-587	CLIP-seq
MIRT1152510	hsa-miR-590-3p	CLIP-seq
MIRT1152511	hsa-miR-607	CLIP-seq
MIRT1152512	hsa-miR-626	CLIP-seq
MIRT1152513	hsa-miR-646	CLIP-seq
MIRT1152514	hsa-miR-654-5p	CLIP-seq
MIRT1152515	hsa-miR-657	CLIP-seq
MIRT1152516	hsa-miR-665	CLIP-seq
MIRT1152517	hsa-miR-676	CLIP-seq
MIRT1152518	hsa-miR-760	CLIP-seq
MIRT1152519	hsa-miR-889	CLIP-seq
MIRT1152520	hsa-miR-892a	CLIP-seq
MIRT1152521	hsa-miR-943	CLIP-seq
MIRT2043523	hsa-miR-2681	CLIP-seq
MIRT1152423	hsa-miR-1289	CLIP-seq
MIRT1152435	hsa-miR-224	CLIP-seq
MIRT1152436	hsa-miR-2355-3p	CLIP-seq
MIRT1152437	hsa-miR-2392	CLIP-seq
MIRT2043524	hsa-miR-3144-5p	CLIP-seq
MIRT1152447	hsa-miR-3169	CLIP-seq
MIRT2043525	hsa-miR-3191	CLIP-seq
MIRT2043526	hsa-miR-3199	CLIP-seq
MIRT2043527	hsa-miR-342-5p	CLIP-seq
MIRT1152456	hsa-miR-3665	CLIP-seq
MIRT1152474	hsa-miR-4436b-5p	CLIP-seq
MIRT1152478	hsa-miR-4491	CLIP-seq
MIRT1152481	hsa-miR-4509	CLIP-seq
MIRT2043528	hsa-miR-4515	CLIP-seq
MIRT2043529	hsa-miR-4651	CLIP-seq
MIRT2043530	hsa-miR-4652-5p	CLIP-seq
MIRT1152485	hsa-miR-4657	CLIP-seq
MIRT2043531	hsa-miR-4664-5p	CLIP-seq
MIRT1152491	hsa-miR-4716-5p	CLIP-seq
MIRT1152495	hsa-miR-4740-5p	CLIP-seq
MIRT2043532	hsa-miR-4796-5p	CLIP-seq
MIRT1152503	hsa-miR-486-3p	CLIP-seq
MIRT2043533	hsa-miR-491-5p	CLIP-seq
MIRT1152509	hsa-miR-587	CLIP-seq
MIRT2043534	hsa-miR-608	CLIP-seq
MIRT1152513	hsa-miR-646	CLIP-seq
MIRT1152515	hsa-miR-657	CLIP-seq
MIRT1152517	hsa-miR-676	CLIP-seq
MIRT2272984	hsa-miR-1184	CLIP-seq
MIRT2272985	hsa-miR-1225-5p	CLIP-seq
MIRT2272986	hsa-miR-129-5p	CLIP-seq
MIRT2272987	hsa-miR-24	CLIP-seq
MIRT2043523	hsa-miR-2681	CLIP-seq
MIRT2272988	hsa-miR-4284	CLIP-seq
MIRT2272989	hsa-miR-4323	CLIP-seq
MIRT2272990	hsa-miR-4418	CLIP-seq
MIRT1152498	hsa-miR-4775	CLIP-seq
MIRT2272991	hsa-miR-509-3-5p	CLIP-seq
MIRT2272992	hsa-miR-509-5p	CLIP-seq
MIRT2272993	hsa-miR-555	CLIP-seq
MIRT1152510	hsa-miR-590-3p	CLIP-seq
MIRT2272990	hsa-miR-4418	CLIP-seq
MIRT2272991	hsa-miR-509-3-5p	CLIP-seq
MIRT2272992	hsa-miR-509-5p	CLIP-seq
MIRT2454201	hsa-miR-1267	CLIP-seq
MIRT1152443	hsa-miR-3140-5p	CLIP-seq
MIRT1152445	hsa-miR-3155	CLIP-seq
MIRT1152446	hsa-miR-3155b	CLIP-seq
MIRT2454202	hsa-miR-3664-5p	CLIP-seq
MIRT2454203	hsa-miR-4293	CLIP-seq
MIRT2454204	hsa-miR-4423-5p	CLIP-seq
MIRT1152471	hsa-miR-4427	CLIP-seq
MIRT2454205	hsa-miR-4639-3p	CLIP-seq
MIRT1152490	hsa-miR-4704-3p	CLIP-seq
MIRT1152502	hsa-miR-484	CLIP-seq
MIRT2454206	hsa-miR-556-5p	CLIP-seq
MIRT2454207	hsa-miR-596	CLIP-seq
MIRT2454208	hsa-miR-624	CLIP-seq
MIRT1152519	hsa-miR-889	CLIP-seq
MIRT1152443	hsa-miR-3140-5p	CLIP-seq
MIRT2454203	hsa-miR-4293	CLIP-seq
MIRT1152471	hsa-miR-4427	CLIP-seq
MIRT1152490	hsa-miR-4704-3p	CLIP-seq
MIRT2454206	hsa-miR-556-5p	CLIP-seq
MIRT2454207	hsa-miR-596	CLIP-seq
MIRT1152519	hsa-miR-889	CLIP-seq
MIRT1152443	hsa-miR-3140-5p	CLIP-seq
MIRT2454203	hsa-miR-4293	CLIP-seq
MIRT1152471	hsa-miR-4427	CLIP-seq
MIRT2454206	hsa-miR-556-5p	CLIP-seq
MIRT2454207	hsa-miR-596	CLIP-seq
MIRT1152443	hsa-miR-3140-5p	CLIP-seq
MIRT2454203	hsa-miR-4293	CLIP-seq
MIRT1152471	hsa-miR-4427	CLIP-seq
MIRT2454206	hsa-miR-556-5p	CLIP-seq
MIRT2454207	hsa-miR-596	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IBA
GO:0005515	Function	Protein binding	IPI	12446441, 12897212, 17045265, 25312756, 32296183, 33961781
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:0017022	Function	Myosin binding	IBA
GO:0017022	Function	Myosin binding	IPI	11980908
GO:0030425	Component	Dendrite	IDA	15357836
GO:0030674	Function	Protein-macromolecule adaptor activity	IPI	11980908
GO:0030864	Component	Cortical actin cytoskeleton	IBA
GO:0031267	Function	Small GTPase binding	IEA
GO:0031267	Function	Small GTPase binding	IPI	15357836
GO:0032402	Process	Melanosome transport	NAS	11980908
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	15357836
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
606526	29643	ENSG00000115648

Q9BV36

Protein name

Melanophilin (Exophilin-3) (Slp homolog lacking C2 domains a) (SlaC2-a) (Synaptotagmin-like protein 2a)

Protein function

Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.

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	452 → 513	Rab effector MyRIP/melanophilin C-terminus	Family

Sequence

MGKKLDLSKLTDEEAQHVLEVVQRDFDLRRKEEERLEALKGKIKKESSKRELLSDTAHLN
ETHCARCLQPYQLLVNSKRQCLECGLFTCKSCGRVHPEEQGWICDPCHLARVVKIGSLEW
YYEHVKARFKRFGSAKVIRSLHGRLQGGAGPELISEERSGDSDQTDEDGEPGSEAQAQAQ
PFGSKKKRLLSVHDFDFEGDSDDSTQPQGHSLHLSSVPEARDSPQSLTDESCSEKAAPHK
AEGLEEADTGASGCHSHPEEQPTSISPSRHGALAELCPPGGSHRMALGTAAALGSNVIRN
EQLPLQYLADVDTSDEESIRAHVMASHHSKRRGRASSESQIFELNKHISAVECLLTYLEN
TVVPPLAKGLGAGVRTEADVEEEALRRKLEELTSNVSDQETSSEEEEAKDEKAEPNRDKS
VGPLPQADPEVGTAAHQTNRQEKSPQDPGDPVQYNRTTDEELSELEDRVAVTASEVQQAE
SEVSDIESRIAALRAAGLTVKPSGKPRRKSNLPIFLPRVAGKLGKRPEDPNADPSSEAKA
MAVPYLLRRKFSNSLKSQGKDDDSFDRKSVYRGSLTQRNPNARKGMASHTFAKPVVAHQS

Sequence length

600

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 Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Griscelli syndrome type 3	Likely pathogenic; Pathogenic	rs2106291953, rs146551411, rs786205551, rs786205641, rs119473031	RCV001782443 RCV002248389 RCV001283806 RCV003989487 RCV000004489	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (15)

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
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET ALZHEIMERS DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRISCELLI SYNDROME, TYPE 3	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MLPH-related disorder	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	31659808	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of Lung	Associate	38608841	★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism	Associate	35488210	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	26306699	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	30310528	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	24625834	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	38608841	★★★★★ ★☆☆☆☆ Found in Text Mining only
Genetic Diseases Inborn	Associate	36243938	★★★★★ ★☆☆☆☆ Found in Text Mining only
Griscelli syndrome type 1	Associate	21883982	★★★★★ ★☆☆☆☆ Found in Text Mining only
Griscelli syndrome type 3	Associate	21883982	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hair Diseases	Associate	21883982	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypopigmentation	Associate	21883982, 36243938	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	24625834	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Associate	35871080	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Inhibit	30310528	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Stimulate	29609951	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Stimulate	25389781	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	26411452	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pigmentation Disorders	Associate	27829444	★★★★★ ★☆☆☆☆ Found in Text Mining only
Poroma	Associate	25389781	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	21743057, 26411452, 31659808, 34822763	★★★★★ ★☆☆☆☆ Found in Text Mining only
Visceral myopathy familial external ophthalmoplegia	Associate	30310528	★★★★★ ★☆☆☆☆ Found in Text Mining only

MLPH (melanophilin)