ADRA1B

adrenoceptor alpha 1B, the group of Adrenoceptors

Basic information

Region (hg38): 5:159865080-159973012

Links

ENSG00000170214 ∙ NCBI:147 ∙ OMIM:104220 ∙ HGNC:278 ∙ Uniprot:P35368 ∙ 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 ADRA1B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADRA1B 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				2	1	3
missense			28			28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	28	2	1

Variants in ADRA1B

This is a list of pathogenic ClinVar variants found in the ADRA1B region.

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

Position	Type	Phenotype	Significance	ClinVar
5-159916930-C-T		not specified	Uncertain significance (May 10, 2022)
5-159916960-G-C		not specified	Uncertain significance (Oct 25, 2023)
5-159916976-A-C		not specified	Uncertain significance (Nov 10, 2022)
5-159916983-T-C			Likely benign (Feb 01, 2023)
5-159917042-T-C		not specified	Uncertain significance (Jun 16, 2024)
5-159917083-A-G		not specified	Uncertain significance (Apr 24, 2023)
5-159917327-T-C		not specified	Uncertain significance (Mar 20, 2023)
5-159917380-C-G		not specified	Uncertain significance (Nov 18, 2022)
5-159917449-C-A		not specified	Uncertain significance (Apr 20, 2023)
5-159917462-A-G		not specified	Uncertain significance (Dec 09, 2023)
5-159917734-A-C		not specified	Uncertain significance (Dec 12, 2023)
5-159917805-C-G			Likely benign (Feb 01, 2023)
5-159971908-G-A		not specified	Uncertain significance (Aug 15, 2023)
5-159972026-A-G		not specified	Uncertain significance (Mar 25, 2022)
5-159972030-C-T			Benign (Jul 16, 2018)
5-159972037-C-G		not specified	Uncertain significance (Mar 19, 2024)
5-159972077-G-A		not specified	Uncertain significance (Nov 12, 2021)
5-159972092-A-G		not specified	Uncertain significance (Oct 20, 2023)
5-159972097-C-T		not specified	Uncertain significance (Aug 02, 2023)
5-159972137-G-T		not specified	Uncertain significance (Nov 15, 2021)
5-159972140-A-G		not specified	Uncertain significance (Mar 18, 2024)
5-159972203-C-T		not specified	Uncertain significance (Feb 28, 2024)
5-159972206-C-T		not specified	Uncertain significance (Dec 05, 2022)
5-159972226-C-G		not specified	Uncertain significance (Jun 24, 2022)
5-159972244-G-T		not specified	Uncertain significance (Jul 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADRA1B	protein_coding	protein_coding	ENST00000306675	2	55762

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.135	0.846	125738	0	2	125740	0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.18	209	263	0.795	0.0000153	3310
Missense in Polyphen		65	122.59	0.53023		1401
Synonymous	0.176	120	122	0.980	0.00000793	1144
Loss of Function	2.03	3	9.88	0.304	4.23e-7	144

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
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	0.0000337	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: This alpha-adrenergic receptor mediates its action by association with G proteins that activate a phosphatidylinositol- calcium second messenger system. Its effect is mediated by G(q) and G(11) proteins. Nuclear ADRA1A-ADRA1B heterooligomers regulate phenylephrine (PE)-stimulated ERK signaling in cardiac myocytes. {ECO:0000269|PubMed:18802028, ECO:0000269|PubMed:22120526}.
• 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);Sympathetic Nerve Pathway (Neuroeffector Junction);AMP-activated Protein Kinase (AMPK) Signaling;Vitamin D Receptor Pathway;GPCRs, Class A Rhodopsin-like;Calcium Regulation in the Cardiac Cell;Monoamine GPCRs;Signaling by GPCR;Signal Transduction;phospholipase c delta in phospholipid associated cell signaling;ion channels and their functional role in vascular endothelium;activation of csk by camp-dependent protein kinase inhibits signaling through the t cell receptor;chrebp regulation by carbohydrates and camp;role of -arrestins in the activation and targeting of map kinases;activation of camp-dependent protein kinase pka;Adrenoceptors;Amine ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);roles of arrestin dependent recruitment of src kinases in gpcr signaling;GPCR ligand binding;-arrestins in gpcr desensitization;G alpha (12/13) signalling events;G alpha (q) signalling events;GPCR downstream signalling;LPA receptor mediated events (Consensus)

Recessive Scores

• pRec: 0.246

Intolerance Scores

• loftool: 0.196
• rvis_EVS: -0.6
• rvis_percentile_EVS: 17.75

Haploinsufficiency Scores

• pHI: 0.724
• hipred: Y
• hipred_score: 0.666
• ghis: 0.597

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.877

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adra1b
• Phenotype: renal/urinary system 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); 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); 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); reproductive system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; homeostasis/metabolism phenotype; cellular phenotype; muscle phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); endocrine/exocrine gland phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure;G protein-coupled receptor signaling pathway;adenylate cyclase-modulating G protein-coupled receptor signaling pathway;phospholipase C-activating G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;cell-cell signaling;multicellular organism development;cell population proliferation;intracellular signal transduction;glucose homeostasis;positive regulation of MAPK cascade;positive regulation of vasoconstriction;positive regulation of smooth muscle contraction;regulation of cardiac muscle contraction;adenylate cyclase-activating adrenergic receptor signaling pathway
• Cellular component: nucleus;cytoplasm;plasma membrane;integral component of plasma membrane;caveola;nuclear membrane
• Molecular function: adrenergic receptor activity;alpha1-adrenergic receptor activity;protein binding;protein heterodimerization activity