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

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9094
Gene name Gene Name - the full gene name approved by the HGNC.	Unc-119 lipid binding chaperone
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	UNC119
Synonyms (NCBI Gene) Gene synonyms aliases	CORD24, HRG4, IMD13, POC7, POC7A
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q11.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene is specifically expressed in the photoreceptors in the retina. The encoded product shares strong homology with the C. elegans unc119 protein and it can functionally complement the C. elegans unc119 mutation. It has been localized to the photorec

Show/Hide all(69)

miRTarBase ID	miRNA	Experiments	Reference
MIRT047759	hsa-miR-7-5p	CLASH	23622248
MIRT1475061	hsa-miR-1203	CLIP-seq
MIRT1475062	hsa-miR-146a	CLIP-seq
MIRT1475063	hsa-miR-146b-5p	CLIP-seq
MIRT1475064	hsa-miR-2467-3p	CLIP-seq
MIRT1475065	hsa-miR-3170	CLIP-seq
MIRT1475066	hsa-miR-3184	CLIP-seq
MIRT1475067	hsa-miR-3690	CLIP-seq
MIRT1475068	hsa-miR-423-5p	CLIP-seq
MIRT1475069	hsa-miR-4254	CLIP-seq
MIRT1475070	hsa-miR-4434	CLIP-seq
MIRT1475071	hsa-miR-4516	CLIP-seq
MIRT1475072	hsa-miR-4531	CLIP-seq
MIRT1475073	hsa-miR-4792	CLIP-seq
MIRT1475074	hsa-miR-1470	CLIP-seq
MIRT1475075	hsa-miR-2114	CLIP-seq
MIRT1475076	hsa-miR-4287	CLIP-seq
MIRT1475077	hsa-miR-4469	CLIP-seq
MIRT1475078	hsa-miR-4667-3p	CLIP-seq
MIRT1475079	hsa-miR-4685-3p	CLIP-seq
MIRT1475080	hsa-miR-642a	CLIP-seq
MIRT1475066	hsa-miR-3184	CLIP-seq
MIRT1475068	hsa-miR-423-5p	CLIP-seq
MIRT2143043	hsa-miR-3183	CLIP-seq
MIRT2143044	hsa-miR-342-3p	CLIP-seq
MIRT2143045	hsa-miR-382	CLIP-seq
MIRT2143046	hsa-miR-4268	CLIP-seq
MIRT2143047	hsa-miR-4448	CLIP-seq
MIRT2143048	hsa-miR-4723-3p	CLIP-seq
MIRT2143049	hsa-miR-513a-5p	CLIP-seq
MIRT2363404	hsa-miR-3667-3p	CLIP-seq
MIRT2363405	hsa-miR-1296	CLIP-seq
MIRT2363406	hsa-miR-4512	CLIP-seq
MIRT2657160	hsa-miR-1245b-5p	CLIP-seq
MIRT2363405	hsa-miR-1296	CLIP-seq
MIRT2657161	hsa-miR-296-5p	CLIP-seq
MIRT2657162	hsa-miR-3136-3p	CLIP-seq
MIRT2657163	hsa-miR-3142	CLIP-seq
MIRT2143043	hsa-miR-3183	CLIP-seq
MIRT2143044	hsa-miR-342-3p	CLIP-seq
MIRT2143045	hsa-miR-382	CLIP-seq
MIRT2143046	hsa-miR-4268	CLIP-seq
MIRT2657164	hsa-miR-4297	CLIP-seq
MIRT2143047	hsa-miR-4448	CLIP-seq
MIRT2363406	hsa-miR-4512	CLIP-seq
MIRT2657165	hsa-miR-4650-5p	CLIP-seq
MIRT2143048	hsa-miR-4723-3p	CLIP-seq
MIRT2657166	hsa-miR-4738-3p	CLIP-seq
MIRT2143049	hsa-miR-513a-5p	CLIP-seq
MIRT2657167	hsa-miR-635	CLIP-seq
MIRT2657160	hsa-miR-1245b-5p	CLIP-seq
MIRT2363405	hsa-miR-1296	CLIP-seq
MIRT2657161	hsa-miR-296-5p	CLIP-seq
MIRT2657162	hsa-miR-3136-3p	CLIP-seq
MIRT2657163	hsa-miR-3142	CLIP-seq
MIRT2143043	hsa-miR-3183	CLIP-seq
MIRT2143044	hsa-miR-342-3p	CLIP-seq
MIRT2363404	hsa-miR-3667-3p	CLIP-seq
MIRT2143045	hsa-miR-382	CLIP-seq
MIRT2694756	hsa-miR-384	CLIP-seq
MIRT2143046	hsa-miR-4268	CLIP-seq
MIRT2657164	hsa-miR-4297	CLIP-seq
MIRT2143047	hsa-miR-4448	CLIP-seq
MIRT2363406	hsa-miR-4512	CLIP-seq
MIRT2657165	hsa-miR-4650-5p	CLIP-seq
MIRT2143048	hsa-miR-4723-3p	CLIP-seq
MIRT2657166	hsa-miR-4738-3p	CLIP-seq
MIRT2143049	hsa-miR-513a-5p	CLIP-seq
MIRT2657167	hsa-miR-635	CLIP-seq

Show/Hide all(38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000281	Process	Mitotic cytokinesis	IBA
GO:0000281	Process	Mitotic cytokinesis	IMP	23535298
GO:0000922	Component	Spindle pole	IBA
GO:0000922	Component	Spindle pole	IDA	23535298
GO:0000922	Component	Spindle pole	IEA
GO:0005515	Function	Protein binding	IPI	14757743, 16169070, 16189514, 18588884, 22085962, 22960633, 23535298, 25416956, 26455799, 27173435, 28514442, 31696965, 32296183, 33961781, 35156780
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	22085962, 23535298
GO:0005813	Component	Centrosome	IEA
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	TAS	9538874
GO:0005856	Component	Cytoskeleton	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	9538874
GO:0007399	Process	Nervous system development	IBA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	10329014
GO:0007602	Process	Phototransduction	TAS	9538874
GO:0008289	Function	Lipid binding	IBA
GO:0008289	Function	Lipid binding	IDA	21642972, 22085962
GO:0008289	Function	Lipid binding	IEA
GO:0015031	Process	Protein transport	IEA
GO:0042953	Process	Lipoprotein transport	IBA
GO:0042953	Process	Lipoprotein transport	IDA	21642972, 22085962
GO:0042953	Process	Lipoprotein transport	IEA
GO:0045171	Component	Intercellular bridge	IBA
GO:0045171	Component	Intercellular bridge	IDA	23535298
GO:0045202	Component	Synapse	IEA
GO:0051233	Component	Spindle midzone	IBA
GO:0051233	Component	Spindle midzone	IDA	23535298
GO:0061098	Process	Positive regulation of protein tyrosine kinase activity	IMP	14757743
GO:1900186	Process	Negative regulation of clathrin-dependent endocytosis	IBA
GO:1900186	Process	Negative regulation of clathrin-dependent endocytosis	IEA
GO:1900186	Process	Negative regulation of clathrin-dependent endocytosis	ISS
GO:2001287	Process	Negative regulation of caveolin-mediated endocytosis	IBA
GO:2001287	Process	Negative regulation of caveolin-mediated endocytosis	IEA
GO:2001287	Process	Negative regulation of caveolin-mediated endocytosis	ISS

MIM	HGNC	e!Ensembl
604011	12565	ENSG00000109103

Protein

UniProt ID

Q13432

Protein name

Protein unc-119 homolog A (Retinal protein 4) (hRG4)

Protein function

Involved in synaptic functions in photoreceptor cells, the signal transduction in immune cells as a Src family kinase activator, endosome recycling, the uptake of bacteria and endocytosis, protein trafficking in sensory neurons and as lipid-bind

PDB

3GQQ , 3RBQ , 4GOJ , 4GOK , 5L7K , 6H6A , 7UMO , 9GKG

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05351	GMP_PDE_delta	80 → 236	GMP-PDE, delta subunit	Family

Tissue specificity

TISSUE SPECIFICITY: Abundantly expressed in retina, in photoreceptor synapses and inner segments. Expressed in a much lesser extent in several other tissues. {ECO:0000269|PubMed:9761287}.

Sequence

MKVKKGGGGAGTATESAPGPSGQSVAPIPQPPAESESGSESEPDAGPGPRPGPLQRKQPI
GPEDVLGLQRITGDYLCSPEENIYKIDFVRFKIRDMDSGTVLFEIKKPPVSERLPINRRD
LDPNAGRFVRYQFTPAFLRLRQVGATVEFTVGDKPVNNFRMIERHYFRNQLLKSFDFHFG
FCIPSSKNTCEHIYDFPPLSEELISEMIRHPYETQSDSFYFVDDRLVMHNKADYSYSGTP

Sequence length

240

Interactions

View interactions

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
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.
Cone Dystrophy	cone-rod dystrophy	N/A	N/A	GenCC
cone-rod dystrophy	Cone-rod dystrophy	N/A	N/A	ClinVar
Cone-rod dystrophy	cone-rod dystrophy 24	N/A	N/A	GenCC

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Diabetes Mellitus	Associate	37453421
Insulin Resistance	Associate	37453421
Neoplasms	Inhibit	32554467
Retinal Diseases	Associate	10329014

UNC119 (unc-119 lipid binding chaperone)