ADM

adrenomedullin, the group of Neuropeptides

Basic information

Region (hg38): 11:10305073-10307397

Links

ENSG00000148926 ∙ NCBI:133 ∙ OMIM:103275 ∙ HGNC:259 ∙ Uniprot:P35318 ∙ 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 ADM gene.

• not_specified (22 variants)
• not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADM gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001124.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			21	1	2	24
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	23	3	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADM	protein_coding	protein_coding	ENST00000528655	3	2718

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125695	0	2	125697	0.00000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.107	115	112	1.03	0.00000509	1188
Missense in Polyphen		28	40.168	0.69707		449
Synonymous	-0.439	53	49.1	1.08	0.00000226	399
Loss of Function	1.31	3	6.65	0.451	2.95e-7	63

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000464	0.0000462
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: AM and PAMP are potent hypotensive and vasodilatator agents. Numerous actions have been reported most related to the physiologic control of fluid and electrolyte homeostasis. In the kidney, am is diuretic and natriuretic, and both am and pamp inhibit aldosterone secretion by direct adrenal actions. In pituitary gland, both peptides at physiologically relevant doses inhibit basal ACTH secretion. Both peptides appear to act in brain and pituitary gland to facilitate the loss of plasma volume, actions which complement their hypotensive effects in blood vessels.
• Pathway: Sympathetic Nerve Pathway (Neuroeffector Junction);Human Complement System;Myometrial Relaxation and Contraction Pathways;Signaling by GPCR;Signal Transduction;G alpha (s) signalling events;Calcitonin-like ligand receptors;Class B/2 (Secretin family receptors);GPCR ligand binding;GPCR downstream signalling;HIF-1-alpha transcription factor network (Consensus)

Recessive Scores

• pRec: 0.438

Intolerance Scores

• loftool: 0.340
• rvis_EVS: 0.24
• rvis_percentile_EVS: 68.98

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.860

Gene Damage Prediction

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

Gene ontology

• Biological process: vasculogenesis;response to hypoxia;neural tube closure;regulation of the force of heart contraction;G protein-coupled receptor internalization;regulation of systemic arterial blood pressure;cAMP biosynthetic process;progesterone biosynthetic process;signal transduction;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;cell-cell signaling;heart development;female pregnancy;aging;blood circulation;androgen metabolic process;positive regulation of cell population proliferation;negative regulation of cell population proliferation;response to cold;response to wounding;positive regulation of heart rate;regulation of signaling receptor activity;animal organ regeneration;neuron projection regeneration;receptor internalization;response to lipopolysaccharide;response to insulin;regulation of urine volume;odontogenesis of dentin-containing tooth;response to starvation;positive regulation of apoptotic process;negative regulation of vascular permeability;positive regulation of angiogenesis;negative regulation of vasoconstriction;hormone secretion;developmental growth;response to glucocorticoid;branching involved in labyrinthine layer morphogenesis;spongiotrophoblast layer development;vascular smooth muscle cell development;amylin receptor signaling pathway;adrenomedullin receptor signaling pathway;positive regulation of vasculogenesis
• Cellular component: extracellular region;extracellular space;cytoplasm
• Molecular function: signaling receptor binding;hormone activity;adrenomedullin receptor binding