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	63906
Gene name	G-patch domain containing 3
Gene symbol	GPATCH3
Synonyms (NCBI Gene)	GPATC3
Chromosome	1
Chromosome location	1p36.11

Show/Hide all (83)

miRTarBase ID	miRNA	Experiments	Reference
MIRT042787	hsa-miR-339-5p	CLASH	23622248
MIRT488535	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT488534	hsa-miR-92b-5p	PAR-CLIP	23592263
MIRT488532	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT488533	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT488531	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT488530	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT488529	hsa-miR-3191-3p	PAR-CLIP	23592263
MIRT488528	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT488527	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT488526	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT488535	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT488534	hsa-miR-92b-5p	PAR-CLIP	23592263
MIRT488532	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT488533	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT488531	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT488530	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT488529	hsa-miR-3191-3p	PAR-CLIP	23592263
MIRT488528	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT488527	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT488526	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT1028272	hsa-let-7a	CLIP-seq
MIRT1028273	hsa-let-7b	CLIP-seq
MIRT1028274	hsa-let-7c	CLIP-seq
MIRT1028275	hsa-let-7d	CLIP-seq
MIRT1028276	hsa-let-7e	CLIP-seq
MIRT1028277	hsa-let-7f	CLIP-seq
MIRT1028278	hsa-let-7g	CLIP-seq
MIRT1028279	hsa-let-7i	CLIP-seq
MIRT1028280	hsa-miR-125a-5p	CLIP-seq
MIRT1028281	hsa-miR-125b	CLIP-seq
MIRT1028282	hsa-miR-199a-3p	CLIP-seq
MIRT1028283	hsa-miR-199b-3p	CLIP-seq
MIRT1028284	hsa-miR-202	CLIP-seq
MIRT1028285	hsa-miR-3119	CLIP-seq
MIRT1028286	hsa-miR-3129-5p	CLIP-seq
MIRT1028287	hsa-miR-3191	CLIP-seq
MIRT1028288	hsa-miR-3620	CLIP-seq
MIRT1028289	hsa-miR-365	CLIP-seq
MIRT1028290	hsa-miR-4319	CLIP-seq
MIRT1028291	hsa-miR-4458	CLIP-seq
MIRT1028292	hsa-miR-4500	CLIP-seq
MIRT1028293	hsa-miR-4514	CLIP-seq
MIRT1028294	hsa-miR-4692	CLIP-seq
MIRT1028295	hsa-miR-4712-5p	CLIP-seq
MIRT1028296	hsa-miR-4749-3p	CLIP-seq
MIRT1028297	hsa-miR-520g	CLIP-seq
MIRT1028298	hsa-miR-544b	CLIP-seq
MIRT1028299	hsa-miR-548c-3p	CLIP-seq
MIRT1028300	hsa-miR-770-5p	CLIP-seq
MIRT1028301	hsa-miR-940	CLIP-seq
MIRT1028302	hsa-miR-98	CLIP-seq
MIRT1028297	hsa-miR-520g	CLIP-seq
MIRT1028297	hsa-miR-520g	CLIP-seq
MIRT1028287	hsa-miR-3191	CLIP-seq
MIRT1028297	hsa-miR-520g	CLIP-seq
MIRT1028272	hsa-let-7a	CLIP-seq
MIRT1028273	hsa-let-7b	CLIP-seq
MIRT1028274	hsa-let-7c	CLIP-seq
MIRT1028275	hsa-let-7d	CLIP-seq
MIRT1028276	hsa-let-7e	CLIP-seq
MIRT1028277	hsa-let-7f	CLIP-seq
MIRT1028278	hsa-let-7g	CLIP-seq
MIRT1028279	hsa-let-7i	CLIP-seq
MIRT1028280	hsa-miR-125a-5p	CLIP-seq
MIRT1028281	hsa-miR-125b	CLIP-seq
MIRT1028284	hsa-miR-202	CLIP-seq
MIRT2237717	hsa-miR-3155	CLIP-seq
MIRT2237718	hsa-miR-3155b	CLIP-seq
MIRT1028289	hsa-miR-365	CLIP-seq
MIRT1028290	hsa-miR-4319	CLIP-seq
MIRT1028291	hsa-miR-4458	CLIP-seq
MIRT1028292	hsa-miR-4500	CLIP-seq
MIRT1028293	hsa-miR-4514	CLIP-seq
MIRT2237719	hsa-miR-4691-3p	CLIP-seq
MIRT1028294	hsa-miR-4692	CLIP-seq
MIRT1028296	hsa-miR-4749-3p	CLIP-seq
MIRT2237720	hsa-miR-484	CLIP-seq
MIRT1028298	hsa-miR-544b	CLIP-seq
MIRT1028299	hsa-miR-548c-3p	CLIP-seq
MIRT1028301	hsa-miR-940	CLIP-seq
MIRT1028302	hsa-miR-98	CLIP-seq
MIRT2388591	hsa-miR-4726-3p	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IEA
GO:0005515	Function	Protein binding	IPI	28414768
GO:0005634	Component	Nucleus	IDA	28397860
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	28397860
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0032480	Process	Negative regulation of type I interferon production	IBA
GO:0032480	Process	Negative regulation of type I interferon production	IEA
GO:0032480	Process	Negative regulation of type I interferon production	IMP	28414768
GO:0039536	Process	Negative regulation of RIG-I signaling pathway	IBA
GO:0039536	Process	Negative regulation of RIG-I signaling pathway	IEA
GO:0039536	Process	Negative regulation of RIG-I signaling pathway	IMP	28414768
GO:0045893	Process	Positive regulation of DNA-templated transcription	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	28397860

MIM	HGNC	e!Ensembl
617486	25720	ENSG00000198746

Q96I76

Protein name

G patch domain-containing protein 3

Protein function

Involved in transcriptional regulation. It is able to activate transcription from the CXCR4 promoter and therefore it might control neural crest cell migration involved in ocular and craniofacial development (PubMed:28397860). Is a negative regu

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01585	G-patch	410 → 456	G-patch domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in ocular tissues including retinal pigment epithelium, cornea, ciliary muscle and non-pigmented ciliary epithelium. Also expressed in optic nerve, cartilage, skin and lymph node. {ECO:0000269|PubMed:28397860}.

Sequence

MAVPGEAEEEATVYLVVSGIPSVLRSAHLRSYFSQFREERGGGFLCFHYRHRPERAPPQA
APNSALIPTDPAAEGQLLSQTSATDVRPLSTRDSTPIQTRTCCCVISVRGLAQAQRLIRM
YSGRRWLDSHGTWLPGRCLIRRLRLPTEASGLGSFPFKTRKELQSWKAENEAFTLADLKQ
LPELNPPVLMPRGNVGTPLRVFLELIRACRLPPRIITQLQLQFPKTGSSRRYGNVPFEYE
DSETVEQEELVYTAEGEEIPQGTYLADIPASPCGEPEEEVGKEEEEESHSDEDDDRGEEW
ERHEALHEDVTGQERTTEQLFEEEIELKWEKGGSGLVFYTDAQFWQEEEGDFDEQTADDW
DVDMSVYYDRDGGDKDARDSVQMRLEQRLRDGQEDGSVIERQVGTFERHTKGIGRKVMER
QGWAEGQGLGCRCSGVPEALDSDGQHPRCKRGLGYHGEKLQPFGQLKRPRRNGLGLISTI
YDEPLPQDQTESLLRRQPPTSMKFRTDMAFVRGSSCASDSPSLPD

Sequence length

525

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 (4)

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.
GPATCH3-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPHTHALMOS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

GPATCH3 (G-patch domain containing 3)