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	9094
Gene name	Unc-119 lipid binding chaperone
Gene symbol	UNC119
Synonyms (NCBI Gene)	CORD24HRG4IMD13POC7POC7A
Chromosome	17
Chromosome location	17q11.2
Summary	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

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

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cone-rod dystrophy 24	Likely pathogenic; Pathogenic	rs764936506	RCV003223752	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular dystrophy	Likely pathogenic; Pathogenic	rs764936506	RCV002223344	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

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.
CONE ROD DYSTROPHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-rod dystrophy	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Glioma susceptibility 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic CD4 lymphocytopenia	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 13	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNC119-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (33)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	25120191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	28935136		★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	22184408		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone rod dystrophy	Cone-rod dystrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	17174953		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy 2	Cone-rod dystrophy	ORPHANET_DG	11006213, 26992781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	17174953		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	37453421	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	25120191		★★★★★ ★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 13	Immunodeficiency	BEFREE	22184408, 22729960		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 13	Immunodeficiency	UNIPROT_DG	22184408		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 13	Immunodeficiency	GENOMICS_ENGLAND_DG	22184408		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 13	Immunodeficiency	ORPHANET_DG	22184408		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	37453421	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
LATE-ONSET RETINAL DEGENERATION (disorder)	RETINAL DEGENERATION	BEFREE	17174953		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29552781, 29552782, 30610799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	17579091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	22729960		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29552781, 29552782		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29552781, 29552782, 29931788, 30610799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent sinusitis	Sinusitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	10329014	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	11006213, 9761287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	CTD_human_DG	11006213		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	30945270		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	17174953		★★★★★ ★☆☆☆☆ Found in Text Mining only
T-Lymphocytopenia, Idiopathic CD4-Positive	Immunodeficiency	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

UNC119 (unc-119 lipid binding chaperone)