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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51005
Gene name	Amidohydrolase domain containing 2
Gene symbol	AMDHD2
Synonyms (NCBI Gene)	CGI-14
Chromosome	16
Chromosome location	16p13.3

Show/Hide all (38)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030119	hsa-miR-26b-5p	Microarray	19088304
MIRT641278	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT641277	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT641276	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT641275	hsa-miR-4267	HITS-CLIP	23824327
MIRT641274	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT641272	hsa-miR-4308	HITS-CLIP	23824327
MIRT641273	hsa-miR-4254	HITS-CLIP	23824327
MIRT641271	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT641270	hsa-miR-4786-5p	HITS-CLIP	23824327
MIRT641269	hsa-miR-139-3p	HITS-CLIP	23824327
MIRT530740	hsa-miR-7844-5p	PAR-CLIP	22012620
MIRT530739	hsa-miR-6856-3p	PAR-CLIP	22012620
MIRT530738	hsa-miR-3922-5p	PAR-CLIP	22012620
MIRT530737	hsa-miR-4690-3p	PAR-CLIP	22012620
MIRT530736	hsa-miR-5685	PAR-CLIP	22012620
MIRT530735	hsa-miR-1224-3p	PAR-CLIP	22012620
MIRT530734	hsa-miR-1260a	PAR-CLIP	22012620
MIRT530733	hsa-miR-1260b	PAR-CLIP	22012620
MIRT641278	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT641277	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT641276	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT641275	hsa-miR-4267	HITS-CLIP	23824327
MIRT641274	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT641272	hsa-miR-4308	HITS-CLIP	23824327
MIRT641273	hsa-miR-4254	HITS-CLIP	23824327
MIRT641271	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT641270	hsa-miR-4786-5p	HITS-CLIP	23824327
MIRT641269	hsa-miR-139-3p	HITS-CLIP	23824327
MIRT530740	hsa-miR-7844-5p	PAR-CLIP	22012620
MIRT530739	hsa-miR-6856-3p	PAR-CLIP	22012620
MIRT530738	hsa-miR-3922-5p	PAR-CLIP	22012620
MIRT530737	hsa-miR-4690-3p	PAR-CLIP	22012620
MIRT530736	hsa-miR-5685	PAR-CLIP	22012620
MIRT530735	hsa-miR-1224-3p	PAR-CLIP	22012620
MIRT530734	hsa-miR-1260a	PAR-CLIP	22012620
MIRT530733	hsa-miR-1260b	PAR-CLIP	22012620
MIRT1930103	hsa-miR-4292	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 29892012, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005829	Component	Cytosol	TAS
GO:0006044	Process	N-acetylglucosamine metabolic process	IEA
GO:0006046	Process	N-acetylglucosamine catabolic process	IBA
GO:0006048	Process	UDP-N-acetylglucosamine biosynthetic process	TAS
GO:0008448	Function	N-acetylglucosamine-6-phosphate deacetylase activity	IBA
GO:0008448	Function	N-acetylglucosamine-6-phosphate deacetylase activity	IDA	22692205, 35229715
GO:0008448	Function	N-acetylglucosamine-6-phosphate deacetylase activity	IEA
GO:0008448	Function	N-acetylglucosamine-6-phosphate deacetylase activity	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0016810	Function	Hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	IEA
GO:0019262	Process	N-acetylneuraminate catabolic process	IEA
GO:0019262	Process	N-acetylneuraminate catabolic process	TAS	22692205
GO:0046872	Function	Metal ion binding	IEA
GO:0047419	Function	N-acetylgalactosamine-6-phosphate deacetylase activity	IDA	35229715
GO:0106279	Process	Negative regulation of UDP-N-acetylglucosamine biosynthetic process	IDA	35229715
GO:0106279	Process	Negative regulation of UDP-N-acetylglucosamine biosynthetic process	IEA

MIM	HGNC	e!Ensembl
620864	24262	ENSG00000162066

Q9Y303

Protein name

N-acetylglucosamine-6-phosphate deacetylase (GlcNAc 6-P deacetylase) (EC 3.5.1.25) (Amidohydrolase domain-containing protein 2)

Protein function

Hydrolyzes the N-glycolyl group from N-glycolylglucosamine 6-phosphate (GlcNGc-6-P) in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway. Although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5G

PDB

7NUT , 7NUU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01979	Amidohydro_1	62 → 401	Amidohydrolase family	Domain

Sequence

MRGEQGAAGARVLQFTNCRILRGGKLLREDLWVRGGRILDPEKLFFEERRVADERRDCGG
RILAPGFIDVQINGGFGVDFSQATEDVGSGVALVARRILSHGVTSFCPTLVTSPPEVYHK
VVPQIPVKSGGPHGAGVLGLHLEGPFISREKRGAHPEAHLRSFEADAFQDLLATYGPLDN
VRIVTLAPELGRSHEVIRALTARGICVSLGHSVADLRAAEDAVWSGATFITHLFNAMLPF
HHRDPGIVGLLTSDRLPAGRCIFYGMIADGTHTNPAALRIAHRAHPQGLVLVTDAIPALG
LGNGRHTLGQQEVEVDGLTAYVAGTKTLSGSIAPMDVCVRHFLQATGCSMESALEAASLH
PAQLLGLEKSKGTLDFGADADFVVLDDSLHVQATYISGELVWQADAARQ

Sequence length

409

Interactions

View interactions

	KEGG		Reactome
	Amino sugar and nucleotide sugar metabolism Metabolic pathways		Synthesis of UDP-N-acetyl-glucosamine

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 (2)

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.
CHILDHOOD-ONSET EPILEPSY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (1)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

AMDHD2 (amidohydrolase domain containing 2)