GATD3 (glutamine amidotransferase class 1 domain containing 3)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8209
Gene name Gene Name - the full gene name approved by the HGNC.
Glutamine amidotransferase class 1 domain containing 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GATD3
Synonyms (NCBI Gene) Gene synonyms aliases
C21orf33, ES1, GATD3A, GATD3B, GT335, HES1, KNPH, KNPI
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a potential mitochondrial protein that is a member of the DJ-1/PfpI gene family. This protein is overexpressed in fetal Down syndrome brain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
601659 1273 ENSG00000160221
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID P0DPI2
Protein name Glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial
Family and domains
Sequence 
MAAVRVLVASRLAAASAFTSLSPGGRTPSQRAALHLSVPRPAARVALVLSGCGVYDGTEI
HEASAILVHLSRGGAEVQIFAPDVPQMHVIDHTKGQPSEGESRNVLTESARIARGKITDL
ANLSAANHDAAIFPGGFGAAKNLSTFAVDGKDCKVNKEVERVLKEFHQAGKPIGLCCIAP
VLAAKVLRGVEVTVGHEQEEGGKWPYAGTAEAIKALGAKHCVKEVVEAHVDQKNKVVTTP
AFMCETALHYIHDGIGAMVRKVLELTGK
Sequence length 268
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name dbSNP ID References
Diabetes mellitus Diabetes Mellitus, Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)		 25751624
Inflammatory bowel disease Inflammatory Bowel Diseases rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468 23128233, 28067908, 26192919
Multiple sclerosis Multiple Sclerosis rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039
View all (4 more)		 22190364
Psoriasis Psoriasis rs281875215, rs587777763, rs281875213, rs281875212 26974007
Show/Hide Unknown Diseases (8)
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma 21150878 ClinVar
Celiac disease Celiac Disease, Celiac disease 22057235 ClinVar, GWAS
Crohn disease Crohn Disease 21102463, 26192919, 18587394, 26974007, 28067908 ClinVar
Diabetes Diabetes GWAS