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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1644
Gene name Gene Name - the full gene name approved by the HGNC.	Dopa decarboxylase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DDC
Synonyms (NCBI Gene) Gene synonyms aliases	AADC
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7p12.2-p12.1
Summary Summary of gene provided in NCBI Entrez Gene.	The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (

Show/Hide all(14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs11575290	G>A,T	Conflicting-interpretations-of-pathogenicity, benign	Genic upstream transcript variant, coding sequence variant, synonymous variant, missense variant
rs137853208	G>A	Pathogenic	Missense variant, coding sequence variant
rs137853209	A>G	Pathogenic	Missense variant, coding sequence variant
rs137853210	T>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs137853212	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs142110773	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs201951824	C>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs771317809	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs779659084	G>A,C	Likely-pathogenic	Intron variant
rs971183744	C>G,T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs1085307991	A>G	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1276093487	T>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554411234	C>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1585237892	C>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant

Show/Hide all(14)

miRTarBase ID	miRNA	Experiments	Reference
MIRT437834	hsa-miR-145-5p	qRT-PCR, Western blot	25445287
MIRT928809	hsa-miR-1261	CLIP-seq
MIRT928810	hsa-miR-1270	CLIP-seq
MIRT928811	hsa-miR-3617	CLIP-seq
MIRT928812	hsa-miR-4434	CLIP-seq
MIRT928813	hsa-miR-4516	CLIP-seq
MIRT928814	hsa-miR-4531	CLIP-seq
MIRT928815	hsa-miR-4782-5p	CLIP-seq
MIRT928816	hsa-miR-620	CLIP-seq
MIRT928817	hsa-miR-641	CLIP-seq
MIRT2210476	hsa-miR-1184	CLIP-seq
MIRT2210477	hsa-miR-1205	CLIP-seq
MIRT2210478	hsa-miR-3158-5p	CLIP-seq
MIRT2210479	hsa-miR-4734	CLIP-seq

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
POU3F2	Unknown	9602135
POU5F1	Unknown	9602135

Show/Hide all(30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004058	Function	Aromatic-L-amino-acid decarboxylase activity	IBA	21873635
GO:0004058	Function	Aromatic-L-amino-acid decarboxylase activity	IDA	16338639
GO:0005515	Function	Protein binding	IPI	12864730, 19703902
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0006520	Process	Cellular amino acid metabolic process	IEA
GO:0006584	Process	Catecholamine metabolic process	IBA	21873635
GO:0007623	Process	Circadian rhythm	IEA
GO:0008021	Component	Synaptic vesicle	IEA
GO:0010259	Process	Multicellular organism aging	IEA
GO:0015842	Process	Aminergic neurotransmitter loading into synaptic vesicle	IEA
GO:0016597	Function	Amino acid binding	IEA
GO:0016831	Function	Carboxy-lyase activity	IBA	21873635
GO:0019899	Function	Enzyme binding	IPI	19703902
GO:0019904	Function	Protein domain specific binding	IEA
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0030424	Component	Axon	IEA
GO:0033076	Process	Isoquinoline alkaloid metabolic process	IEA
GO:0035690	Process	Cellular response to drug	IEA
GO:0036468	Function	L-dopa decarboxylase activity	IDA	19703902
GO:0042416	Process	Dopamine biosynthetic process	IEA
GO:0042423	Process	Catecholamine biosynthetic process	TAS
GO:0042427	Process	Serotonin biosynthetic process	IBA	21873635
GO:0043025	Component	Neuronal cell body	IEA
GO:0046219	Process	Indolalkylamine biosynthetic process	TAS
GO:0046684	Process	Response to pyrethroid	IEA
GO:0052314	Process	Phytoalexin metabolic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071312	Process	Cellular response to alkaloid	IEA
GO:0071363	Process	Cellular response to growth factor stimulus	IEA

MIM	HGNC	e!Ensembl
107930	2719	ENSG00000132437

Protein

UniProt ID

P20711

Protein name

Aromatic-L-amino-acid decarboxylase (AADC) (EC 4.1.1.28) (DOPA decarboxylase) (DDC)

Protein function

Catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine and L-5-hydroxytryptophan to serotonin.

PDB

3RBF , 3RBL , 3RCH , 8OR9 , 8ORA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00282	Pyridoxal_deC	35 → 414	Pyridoxal-dependent decarboxylase conserved domain	Domain

Tissue specificity

TISSUE SPECIFICITY: [Isoform 2]: High expression in kidney. {ECO:0000269|PubMed:15532536}.

Sequence

MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDV
EKIIMPGVTHWHSPYFFAYFPTASSYPAMLADMLCGAIGCIGFSWAASPACTELETVMMD
WLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAARTKVIHRLQAASPELTQAAIM
EKLVAYSSDQAHSSVERAGLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMV
ATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFN
PHKWLLVNFDCSAMWVKKRTDLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFRSL
KMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFRLKGSNKVN
EALLQRINSAKKIHLVPCHLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE

Sequence length

480

Interactions

View interactions

	KEGG		Reactome
	Tyrosine metabolism Phenylalanine metabolism Tryptophan metabolism Metabolic pathways Serotonergic synapse Dopaminergic synapse Cocaine addiction Amphetamine addiction Alcoholism		Catecholamine biosynthesis Serotonin and melatonin biosynthesis

Show/Hide Causal Diseases (6)

Disease term	Disease name	dbSNP ID	References
Causal
Deficiency of aromatic-l-amino-acid decarboxylase	Deficiency of aromatic-L-amino-acid decarboxylase	rs137853207, rs137853208, rs137853209, rs137853210, rs137853211, rs201951824, rs886062374, rs771317809, rs1554411234, rs142110773, rs1276093487, rs779659084, rs1585237892, rs200362242	21541720, 15079002, 24865461, 17240182, 20505134, 19172410, 24816252, 27830117, 14991824
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)	19172410
Lymphoblastic leukemia	Precursor Cell Lymphoblastic Leukemia Lymphoma	rs387906351, rs104894562, rs398122513, rs398122840, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699 View all (13 more)	19684603, 23512250, 22076464
Mental retardation	Moderate intellectual disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Parkinson disease	Parkinsonian Disorders, Autosomal Dominant Juvenile Parkinson Disease, PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE, Parkinson Disease	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432 View all (84 more)	16269145, 2969953, 11445284
Pheochromocytoma	Pheochromocytoma	rs121908826, rs121908830, rs121908821, rs5030821, rs5030820, rs104893826, rs5030808, rs587776644, rs80338844, rs104894306, rs104894309, rs75076352, rs75996173, rs77709286, rs74799832 View all (30 more)	22569243

Show/Hide Unknown Diseases (6)

Disease term	Disease name	References	Source
Unknown
Behavior disorders	Behavior Disorders	2969953	ClinVar
Major affective disorder	MAJOR AFFECTIVE DISORDER 2	10578236, 12555230	ClinVar
Mental depression	Unipolar Depression, Major Depressive Disorder	20092830	ClinVar
Ptosis	Blepharoptosis, Ptosis		ClinVar
Metabolic Syndrome	Metabolic Syndrome		GWAS
Diabetes	Diabetes		GWAS

Show/Hide Text Mining Associations (47)

Disease Name	Relationship Type	References
Associations from Text Mining
Alzheimer Disease	Associate	37925455
Aromatic amino acid decarboxylase deficiency	Associate	29356298, 29851841, 31918669, 31975548, 32409695, 36427457, 37348148, 37466248, 37761968, 38302374, 39841990
Aromatic amino acid decarboxylase deficiency	Inhibit	38275615
Attention Deficit Disorder with Hyperactivity	Associate	24163823
Autonomic Nervous System Diseases	Associate	37803205
Breast Neoplasms	Associate	33334070
Carcinoid Tumor	Associate	16517981
Carcinoma Neuroendocrine	Associate	16517981
Carcinoma Small Cell	Associate	9880081
Carcinoma Squamous Cell	Inhibit	23083099
Chronic Traumatic Encephalopathy	Associate	29338612
Cognition Disorders	Associate	26924680
Colonic Neoplasms	Associate	20424616, 23083099
Colorectal Neoplasms	Associate	20424616
Coronary Artery Disease	Associate	35151267
COVID 19	Associate	34185793, 36611805
Developmental Disabilities	Associate	36427457
Developmental Disabilities	Stimulate	37803205
Dystonia	Associate	36054588, 36427457
Endometrial Neoplasms	Associate	36805217, 37872211
Gastrointestinal Diseases	Associate	37457714
Head and Neck Neoplasms	Associate	29851841
Headache	Associate	19828868
Immunologic Deficiency Syndromes	Associate	26924680, 36427457
Intracranial Hemorrhages	Associate	19828868
Malaria	Associate	25805752
Mental Disorders	Associate	29851841
Movement Disorders	Stimulate	37803205
Neoplasm Micrometastasis	Associate	14760382
Neoplasms	Associate	10393831, 17549667, 20424616, 23213196, 33334070, 37872211
Nerve Degeneration	Associate	24848007, 33129359
Neuroblastoma	Associate	10393831, 18980998, 19460840, 26959748, 31432180
Neuroendocrine Tumors	Associate	1331003, 17549667, 35343670
Neurologic Manifestations	Associate	36427457
Parkinson Disease	Associate	19703902, 19828868, 20606642, 22424171, 30802998, 32149427, 34649873
Parkinson Disease Secondary	Associate	36054588, 37466248
Pediatric acute onset neuropsychiatric syndrome	Associate	26924680
Peritonitis	Associate	14760382
Polyendocrinopathies Autoimmune	Associate	32557834
Prostatic Neoplasms	Associate	17553164, 17581945, 23083099
Small Cell Lung Carcinoma	Associate	31691490
Squamous Cell Carcinoma of Head and Neck	Associate	23083099
Status Asthmaticus	Associate	32409695, 36427457
Stomach Neoplasms	Associate	14760382
Tongue Neoplasms	Associate	23083099
Virus Diseases	Associate	34185793
Virus Diseases	Inhibit	36611805

DDC (dopa decarboxylase)