DRD5
dopamine receptor D5, the group of Dopamine receptors
Basic information
Region (hg38): 4:9781634-9784009
Previous symbols: [ "DRD1L2" ]
Links
Phenotypes
GenCC
Source:
- attention deficit-hyperactivity disorder (No Known Disease Relationship), mode of inheritance: Unknown
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (83 variants)
- DRD5-related_disorder (6 variants)
- not_provided (4 variants)
- Attention_deficit-hyperactivity_disorder,_susceptibility_to,_7 (1 variants)
- Oculocutaneous_albinism_type_1A (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DRD5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000798.5. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | |||||
| missense | 85 | 91 | ||||
| nonsense | 1 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 85 | 6 | 2 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| DRD5 | protein_coding | protein_coding | ENST00000304374 | 1 | 2375 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.35e-16 | 0.000434 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.446 | 348 | 325 | 1.07 | 0.0000223 | 3112 |
| Missense in Polyphen | 114 | 124.47 | 0.91589 | 1272 | ||
| Synonymous | -0.782 | 159 | 147 | 1.08 | 0.0000117 | 978 |
| Loss of Function | -1.89 | 20 | 12.7 | 1.57 | 6.19e-7 | 120 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Dopamine receptor whose activity is mediated by G proteins which activate adenylyl cyclase. {ECO:0000269|PubMed:1834671}.;
- Pathway
- Dopaminergic synapse - Homo sapiens (human);Calcium signaling pathway - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Class A Rhodopsin-like;Monoamine GPCRs;Signaling by GPCR;Signal Transduction;GPCR Dopamine D1like receptor;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;G alpha (s) signalling events;Dopamine receptors;Amine ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;GPCR signaling-G alpha i;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.218
Intolerance Scores
- loftool
- 0.870
- rvis_EVS
- 0.37
- rvis_percentile_EVS
- 75.43
Haploinsufficiency Scores
- pHI
- 0.0804
- hipred
- N
- hipred_score
- 0.342
- ghis
- 0.497
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.560
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Drd5
- Phenotype
- endocrine/exocrine gland phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); renal/urinary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);
Gene ontology
- Biological process
- synaptic transmission, dopaminergic;response to amphetamine;regulation of systemic arterial blood pressure by vasopressin;norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure;cellular calcium ion homeostasis;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;activation of adenylate cyclase activity;adenylate cyclase-activating dopamine receptor signaling pathway;chemical synaptic transmission;associative learning;transmission of nerve impulse;negative regulation of NAD(P)H oxidase activity;wound healing;response to cocaine;positive regulation of adenylate cyclase activity;negative regulation of blood pressure;regulation of female receptivity;sensitization;phospholipase C-activating dopamine receptor signaling pathway;long-term synaptic depression;cellular response to catecholamine stimulus;reactive oxygen species metabolic process
- Cellular component
- plasma membrane;integral component of plasma membrane;brush border membrane;ciliary membrane;non-motile cilium
- Molecular function
- dopamine neurotransmitter receptor activity, coupled via Gs;G-protein alpha-subunit binding;dopamine neurotransmitter receptor activity;dopamine binding