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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1644
Gene name	Dopa decarboxylase
Gene symbol	DDC
Synonyms (NCBI Gene)	AADC
Chromosome	7
Chromosome location	7p12.2-p12.1
Summary	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-PCRWestern 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

Show/Hide all (2)

Transcription factor	Regulation	Reference
POU3F2	Unknown	9602135
POU5F1	Unknown	9602135

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IEA
GO:0004058	Function	Aromatic-L-amino-acid decarboxylase activity	IBA
GO:0004058	Function	Aromatic-L-amino-acid decarboxylase activity	IDA	16338639
GO:0004058	Function	Aromatic-L-amino-acid decarboxylase activity	IEA
GO:0004058	Function	Aromatic-L-amino-acid decarboxylase activity	TAS	7567987
GO:0005515	Function	Protein binding	IPI	12864730, 19703902
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006520	Process	Amino acid metabolic process	IEA
GO:0006584	Process	Catecholamine metabolic process	IBA
GO:0009636	Process	Response to toxic substance	IEA
GO:0010467	Process	Gene expression	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0016830	Function	Carbon-carbon lyase activity	IEA
GO:0016831	Function	Carboxy-lyase activity	IEA
GO:0019752	Process	Carboxylic acid metabolic process	IEA
GO:0019899	Function	Enzyme binding	IPI	19703902
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0036467	Function	5-hydroxy-L-tryptophan decarboxylase activity	IDA	16338639
GO:0036467	Function	5-hydroxy-L-tryptophan decarboxylase activity	IEA
GO:0036468	Function	L-dopa decarboxylase activity	IDA	19703902
GO:0036468	Function	L-dopa decarboxylase activity	IEA
GO:0042401	Process	Biogenic amine biosynthetic process	IEA
GO:0042416	Process	Dopamine biosynthetic process	IDA	19703902
GO:0042416	Process	Dopamine biosynthetic process	IEA
GO:0042423	Process	Catecholamine biosynthetic process	IEA
GO:0042427	Process	Serotonin biosynthetic process	IBA
GO:0070062	Component	Extracellular exosome	HDA	19056867

MIM	HGNC	e!Ensembl
107930	2719	ENSG00000132437

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

549

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Deficiency of aromatic-L-amino-acid decarboxylase	Likely pathogenic; Pathogenic	rs376647978, rs2042728719, rs1209062363, rs138828136, rs768596169, rs777956037, rs760629324, rs542063660, rs2042497215, rs2044130662, rs748439275, rs777681757, rs931702374, rs915727399, rs1364054304 View all (53 more)	RCV001316040 RCV001329408 RCV003518758 RCV001336994 RCV001339870 RCV001366716 RCV001380419 RCV001380420 RCV001387196 RCV001389547 RCV001780918 RCV003838905 RCV001780920 RCV001998531 RCV001893818 RCV001871291 RCV001896867 RCV001877820 RCV001880729 RCV001960034 RCV002023837 RCV001863286 RCV001887972 RCV005095753 RCV002223079 RCV002243540 RCV002471920 RCV002471921 RCV003037226 RCV003037228 RCV003060113 RCV002625673 RCV000184027 RCV002875726 RCV002881167 RCV002903483 RCV002872415 RCV003123405 RCV003337943 RCV003518173 RCV003516650 RCV003518757 RCV003516726 RCV003631931 RCV003632152 RCV003632575 RCV000279143 RCV003824861 RCV003860612 RCV003877192 RCV000019387 RCV000019388 RCV000019389 RCV000019390 RCV000019391 RCV000019392 RCV004595868 RCV004595869 RCV000578157 RCV000578194 RCV000677176 RCV000705586 RCV000985167 RCV000987869 RCV001071116 RCV001199140 RCV001212125 RCV001250057 RCV001250058 RCV001255133
RASopathy	Likely pathogenic; Pathogenic	rs542063660	RCV004545219
See cases	Likely pathogenic; Pathogenic	rs2042497215, rs201951824	RCV002252679 RCV002252027

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	rs11575376	RCV005910738
Cholangiocarcinoma	Benign	rs3823674	RCV005924484
DDC-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	rs200450773, rs117436059, rs780705506, rs200437940, rs1172420809, rs751519679, rs6262, rs1211830661, rs11575302, rs11575542, rs11575377, rs193227256, rs369201549, rs527805112, rs746729797, rs11575291 View all (1 more)	RCV003920954 RCV003973267 RCV004758176 RCV003923561 RCV003911206 RCV003941272 RCV004730909 RCV004758283 RCV003972517 RCV003972516 RCV003906071 RCV004758060 RCV003950671 RCV003973115 RCV003953551 RCV003945883
Global developmental delay	Conflicting classifications of pathogenicity	rs200450773	RCV001527605
Hepatocellular carcinoma	Benign	rs11575457	RCV005916550
Lung cancer	Benign	rs3823674	RCV005924485
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs11575376	RCV005910737
Uterine carcinosarcoma	Benign	rs4490786	RCV005899224

Show/Hide Text Mining Associations (47)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)