ADRA1D

adrenoceptor alpha 1D, the group of Adrenoceptors

Basic information

Region (hg38): 20:4220629-4249287

Links

ENSG00000171873 ∙ NCBI:146 ∙ OMIM:104219 ∙ HGNC:280 ∙ Uniprot:P25100 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ADRA1D gene.

• Inborn genetic diseases (33 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADRA1D 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			32	1		33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	32	1	1

Variants in ADRA1D

This is a list of pathogenic ClinVar variants found in the ADRA1D region.

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

Position	Type	Phenotype	Significance	ClinVar
20-4221535-C-G		not specified	Uncertain significance (May 09, 2023)
20-4221701-A-G		not specified	Uncertain significance (May 27, 2022)
20-4221705-T-C		not specified	Uncertain significance (Sep 28, 2022)
20-4221735-A-G		not specified	Likely benign (Jul 05, 2023)
20-4221810-G-T		not specified	Uncertain significance (Sep 22, 2022)
20-4221812-G-C		not specified	Uncertain significance (Oct 12, 2021)
20-4221815-C-A		not specified	Uncertain significance (Aug 01, 2022)
20-4221872-G-A		not specified	Uncertain significance (May 09, 2022)
20-4221933-G-T		not specified	Uncertain significance (Mar 21, 2023)
20-4222011-G-C		not specified	Uncertain significance (Dec 16, 2021)
20-4222023-G-T		not specified	Uncertain significance (Mar 24, 2023)
20-4222041-T-C		not specified	Uncertain significance (Jun 01, 2023)
20-4248001-G-C		not specified	Uncertain significance (Sep 20, 2022)
20-4248008-C-T		not specified	Uncertain significance (Apr 08, 2022)
20-4248020-G-T		not specified	Uncertain significance (Jul 13, 2022)
20-4248032-C-G		not specified	Uncertain significance (Jan 19, 2024)
20-4248114-G-C		not specified	Uncertain significance (Oct 03, 2022)
20-4248140-A-G		not specified	Uncertain significance (Aug 03, 2022)
20-4248180-C-T		not specified	Uncertain significance (Jun 30, 2022)
20-4248195-C-G		not specified	Uncertain significance (Jun 30, 2022)
20-4248219-C-T		not specified	Uncertain significance (Jun 05, 2023)
20-4248236-G-A		not specified	Uncertain significance (Nov 30, 2022)
20-4248237-G-T		not specified	Uncertain significance (Oct 25, 2023)
20-4248274-G-C			Benign (Aug 06, 2018)
20-4248330-C-G		not specified	Uncertain significance (Mar 31, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADRA1D	protein_coding	protein_coding	ENST00000379453	2	28393

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000401	0.635	125603	0	27	125630	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.601	295	326	0.906	0.0000198	3534
Missense in Polyphen		69	87.236	0.79096		960
Synonymous	1.32	137	158	0.866	0.0000105	1287
Loss of Function	0.831	8	11.0	0.729	5.45e-7	117

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000178	0.000178
Ashkenazi Jewish	0.00	0.00
East Asian	0.000174	0.000163
Finnish	0.000415	0.000370
European (Non-Finnish)	0.0000571	0.0000528
Middle Eastern	0.000174	0.000163
South Asian	0.0000734	0.0000653
Other	0.000352	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: This alpha-adrenergic receptor mediates its effect through the influx of extracellular calcium.
• Pathway: Adrenergic signaling in cardiomyocytes - Homo sapiens (human);Calcium signaling pathway - Homo sapiens (human);Vascular smooth muscle contraction - Homo sapiens (human);Salivary secretion - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);Antiarrhythmic Pathway, Pharmacodynamics;Sympathetic Nerve Pathway (Neuroeffector Junction);GPCRs, Other;GPCRs, Class A Rhodopsin-like;Calcium Regulation in the Cardiac Cell;Monoamine GPCRs;Signaling by GPCR;Signal Transduction;Adrenoceptors;Amine ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (12/13) signalling events;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.118

Haploinsufficiency Scores

• pHI: 0.144
• hipred: N
• hipred_score: 0.400
• ghis: 0.520

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.161

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Adra1d
• 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); 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); muscle phenotype

Gene ontology

• Biological process: DNA metabolic process;G protein-coupled receptor signaling pathway;adenylate cyclase-modulating G protein-coupled receptor signaling pathway;cell-cell signaling;multicellular organism development;cell population proliferation;positive regulation of cell population proliferation;adenylate cyclase-activating adrenergic receptor signaling pathway
• Cellular component: plasma membrane;integral component of plasma membrane
• Molecular function: adrenergic receptor activity;alpha1-adrenergic receptor activity;protein binding