DRD5

dopamine receptor D5, the group of Dopamine receptors

Basic information

Region (hg38): 4:9781633-9784009

Previous symbols: [ "DRD1L2" ]

Links

ENSG00000169676 ∙ ∙ OMIM:126453 ∙ HGNC:3026 ∙ Uniprot:P21918 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• attention deficit-hyperactivity disorder (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DRD5 gene.

• Inborn genetic diseases (29 variants)
• not provided (5 variants)
• Hereditary attention deficit-hyperactivity disorder (1 variants)
• Schizophrenia;Hereditary attention deficit-hyperactivity disorder (1 variants)
• not specified (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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1			1
missense			30	1	1	32
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					2	2
Total	0	0	31	1	3

Variants in DRD5

This is a list of pathogenic ClinVar variants found in the DRD5 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
4-9781804-G-C			Benign (Jun 18, 2021)
4-9782025-C-G		DRD5-related disorder	Likely benign (Feb 26, 2020)
4-9782088-A-C		not specified	Uncertain significance (Jun 18, 2021)
4-9782098-G-C		not specified	Uncertain significance (Feb 07, 2023)
4-9782112-G-A		not specified	Uncertain significance (Jul 14, 2021)
4-9782151-T-C		not specified	Uncertain significance (Sep 06, 2022)
4-9782215-C-A		DRD5-related disorder	Likely benign (Dec 06, 2019)
4-9782245-C-G		DRD5-related disorder	Likely benign (Feb 19, 2019)
4-9782262-T-G		not specified	Uncertain significance (Aug 31, 2022)
4-9782280-C-T		not specified	Uncertain significance (Nov 22, 2021)
4-9782291-C-T		not specified • DRD5-related disorder	Benign (Oct 31, 2019)
4-9782361-C-A		not specified	Uncertain significance (Dec 01, 2023)
4-9782369-G-A		not specified	Uncertain significance (Jan 20, 2023)
4-9782492-C-T		not specified	Uncertain significance (Feb 05, 2024)
4-9782502-T-G		not specified	Uncertain significance (Jun 02, 2023)
4-9782520-C-A		not specified	Uncertain significance (Jan 03, 2024)
4-9782565-A-G		not specified	Uncertain significance (Mar 07, 2024)
4-9782583-C-T		not specified	Uncertain significance (Apr 25, 2022)
4-9782660-G-A		DRD5-related disorder	Likely benign (Feb 18, 2019)
4-9782752-G-T		not specified	Uncertain significance (Aug 03, 2022)
4-9782753-A-G		not specified	Uncertain significance (Jun 11, 2021)
4-9782789-G-A		not specified	Uncertain significance (Nov 14, 2023)
4-9782799-G-A		not specified	Uncertain significance (Jan 23, 2023)
4-9782801-A-T		not specified	Uncertain significance (Feb 01, 2023)
4-9782817-A-G		not specified	Uncertain significance (Oct 03, 2023)

GnomAD

Source: gnomAD

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: dbNSFP

• 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