Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51005
Gene name Gene Name - the full gene name approved by the HGNC.
Amidohydrolase domain containing 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AMDHD2
Synonyms (NCBI Gene) Gene synonyms aliases
CGI-14
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.3
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 29892012
GO:0005634 Component Nucleus HDA 21630459
GO:0005829 Component Cytosol TAS
GO:0005975 Process Carbohydrate metabolic process IEA
GO:0006046 Process N-acetylglucosamine catabolic process IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
620864 24262 ENSG00000162066
Protein
UniProt ID 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
Sequence length 409
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Amino sugar and nucleotide sugar metabolism
Metabolic pathways
  Synthesis of UDP-N-acetyl-glucosamine
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)