ADRA1D

adrenoceptor alpha 1D, the group of Adrenoceptors

Basic information

Region (hg38): 20:4220630-4249287

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.

not_specified (103 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. These statistics are base on transcript: NM_000000678.4. 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 clinvar	1
missense			99 clinvar	4 clinvar		103
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	99	4	1

Loading clinvar variants...

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