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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9615
Gene name	Guanine deaminase
Gene symbol	GDA
Synonyms (NCBI Gene)	CYPINGAHGUANASENEDASIN
Chromosome	9
Chromosome location	9q21.13
Summary	This gene encodes an enzyme responsible for the hydrolytic deamination of guanine. Studies in rat ortholog suggest this gene plays a role in microtubule assembly. Multiple transcript variants encoding different isoforms have been found for this gene. [pro

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miRTarBase ID	miRNA	Experiments	Reference
MIRT006070	hsa-miR-492	MicroarrayqRT-PCR	21319197
MIRT006070	hsa-miR-492	MicroarrayqRT-PCR	21319197
MIRT006070	hsa-miR-492	MicroarrayqRT-PCR	21319197
MIRT022762	hsa-miR-124-3p	Microarray	18668037
MIRT1015190	hsa-miR-4520a-3p	CLIP-seq
MIRT1015191	hsa-miR-4520b-3p	CLIP-seq
MIRT1015192	hsa-miR-4529-3p	CLIP-seq
MIRT1015193	hsa-miR-513a-3p	CLIP-seq
MIRT1015194	hsa-miR-1207-3p	CLIP-seq
MIRT1015195	hsa-miR-3156-5p	CLIP-seq
MIRT1015196	hsa-miR-3173-3p	CLIP-seq
MIRT1015197	hsa-miR-3609	CLIP-seq
MIRT1015198	hsa-miR-4424	CLIP-seq
MIRT1015199	hsa-miR-4428	CLIP-seq
MIRT1015200	hsa-miR-4504	CLIP-seq
MIRT1015201	hsa-miR-4528	CLIP-seq
MIRT1015202	hsa-miR-4653-3p	CLIP-seq
MIRT1015203	hsa-miR-4695-3p	CLIP-seq
MIRT1015204	hsa-miR-548ah	CLIP-seq
MIRT1015205	hsa-miR-548t	CLIP-seq
MIRT1015206	hsa-miR-3179	CLIP-seq
MIRT1015207	hsa-miR-3622b-5p	CLIP-seq
MIRT1015208	hsa-miR-3667-5p	CLIP-seq
MIRT1015209	hsa-miR-4642	CLIP-seq
MIRT1015210	hsa-miR-4731-3p	CLIP-seq
MIRT1015211	hsa-miR-4801	CLIP-seq
MIRT1015212	hsa-miR-548a-5p	CLIP-seq
MIRT1015213	hsa-miR-548ab	CLIP-seq
MIRT1015214	hsa-miR-548ak	CLIP-seq
MIRT1015215	hsa-miR-548b-5p	CLIP-seq
MIRT1015216	hsa-miR-548c-5p	CLIP-seq
MIRT1015217	hsa-miR-548d-5p	CLIP-seq
MIRT1015218	hsa-miR-548h	CLIP-seq
MIRT1015219	hsa-miR-548i	CLIP-seq
MIRT1015220	hsa-miR-548j	CLIP-seq
MIRT1015221	hsa-miR-548k	CLIP-seq
MIRT1015222	hsa-miR-548l	CLIP-seq
MIRT1015223	hsa-miR-548w	CLIP-seq
MIRT1015224	hsa-miR-548y	CLIP-seq
MIRT1015225	hsa-miR-559	CLIP-seq
MIRT2000577	hsa-miR-1305	CLIP-seq
MIRT2000578	hsa-miR-2117	CLIP-seq
MIRT2000579	hsa-miR-3124-3p	CLIP-seq
MIRT2000580	hsa-miR-3671	CLIP-seq
MIRT2000581	hsa-miR-3692	CLIP-seq
MIRT2000582	hsa-miR-421	CLIP-seq
MIRT2000583	hsa-miR-4517	CLIP-seq
MIRT2000584	hsa-miR-4733-5p	CLIP-seq
MIRT2000585	hsa-miR-607	CLIP-seq
MIRT2000586	hsa-miR-624	CLIP-seq
MIRT2234122	hsa-miR-1279	CLIP-seq
MIRT2234123	hsa-miR-3180-5p	CLIP-seq
MIRT2234124	hsa-miR-520a-5p	CLIP-seq
MIRT2234125	hsa-miR-525-5p	CLIP-seq
MIRT2450154	hsa-miR-3119	CLIP-seq
MIRT2450155	hsa-miR-3140-3p	CLIP-seq
MIRT2450156	hsa-miR-3660	CLIP-seq
MIRT2450157	hsa-miR-3940-5p	CLIP-seq
MIRT2450158	hsa-miR-3978	CLIP-seq
MIRT2450159	hsa-miR-4438	CLIP-seq
MIRT2450160	hsa-miR-4507	CLIP-seq
MIRT2450161	hsa-miR-4526	CLIP-seq
MIRT2450162	hsa-miR-4694-3p	CLIP-seq

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Transcription factor	Regulation	Reference
SP1	Unknown	11369448

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000255	Process	Allantoin metabolic process	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006139	Process	Nucleobase-containing compound metabolic process	TAS	10075721
GO:0006147	Process	Guanine catabolic process	IEA
GO:0006161	Process	Deoxyguanosine catabolic process	IEA
GO:0007399	Process	Nervous system development	TAS	10542258
GO:0008270	Function	Zinc ion binding	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	TAS	10075721
GO:0008892	Function	Guanine deaminase activity	IBA
GO:0008892	Function	Guanine deaminase activity	IEA
GO:0008892	Function	Guanine deaminase activity	TAS	10075721
GO:0016787	Function	Hydrolase activity	IEA
GO:0016810	Function	Hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	IEA
GO:0043605	Process	Amide catabolic process	IEA
GO:0046038	Process	GMP catabolic process	IEA
GO:0046055	Process	DGMP catabolic process	IEA
GO:0046098	Process	Guanine metabolic process	IBA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
139260	4212	ENSG00000119125

Q9Y2T3

Protein name

Guanine deaminase (Guanase) (Guanine aminase) (EC 3.5.4.3) (Guanine aminohydrolase) (GAH) (p51-nedasin)

Protein function

Catalyzes the hydrolytic deamination of guanine, producing xanthine and ammonia.

PDB

2UZ9 , 3E0L , 4AQL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01979	Amidohydro_1	73 → 447	Amidohydrolase family	Domain

Sequence

MCAAQMPPLAHIFRGTFVHSTWTCPMEVLRDHLLGVSDSGKIVFLEEASQQEKLAKEWCF
KPCEIRELSHHEFFMPGLVDTHIHASQYSFAGSSIDLPLLEWLTKYTFPAEHRFQNIDFA
EEVYTRVVRRTLKNGTTTACYFATIHTDSSLLLADITDKFGQRAFVGKVCMDLNDTFPEY
KETTEESIKETERFVSEMLQKNYSRVKPIVTPRFSLSCSETLMGELGNIAKTRDLHIQSH
ISENRDEVEAVKNLYPSYKNYTSVYDKNNLLTNKTVMAHGCYLSAEELNVFHERGASIAH
CPNSNLSLSSGFLNVLEVLKHEVKIGLGTDVAGGYSYSMLDAIRRAVMVSNILLINKVNE
KSLTLKEVFRLATLGGSQALGLDGEIGNFEVGKEFDAILINPKASDSPIDLFYGDFFGDI
SEAVIQKFLYLGDDRNIEEVYVGGKQVVPFSSSV

Sequence length

454

Interactions

View interactions

	KEGG		Reactome
	Purine metabolism Metabolic pathways Nucleotide metabolism		Purine catabolism

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 (1)

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.
CARCINOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

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	11279269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	12376462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37247276	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	12376462		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	12376462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratosis	Keratosis	Pubtator	32215662	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratosis Seborrheic	Seborrheic keratosis	Pubtator	34830382	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29800349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	32517074	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	12376462		★★★★★ ★☆☆☆☆ Found in Text Mining only

GDA (guanine deaminase)