ADM2

adrenomedullin 2, the group of Neuropeptides

Basic information

Region (hg38): 22:50481543-50486440

Links

ENSG00000128165 ∙ NCBI:79924 ∙ OMIM:608682 ∙ HGNC:28898 ∙ Uniprot:Q7Z4H4 ∙ 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 ADM2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADM2 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			15	3		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	3	1

Variants in ADM2

This is a list of pathogenic ClinVar variants found in the ADM2 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-50482580-C-T		not specified	Uncertain significance (Dec 07, 2023)
22-50482584-G-C		not specified	Likely benign (Sep 29, 2023)
22-50482623-G-A		not specified	Uncertain significance (Apr 06, 2024)
22-50482641-T-C		not specified	Uncertain significance (Mar 06, 2023)
22-50482647-G-A		not specified	Likely benign (Jul 19, 2022)
22-50482680-C-T		not specified	Uncertain significance (Oct 29, 2021)
22-50482686-T-C		not specified	Likely benign (May 23, 2023)
22-50482700-C-T		not specified	Uncertain significance (Jul 22, 2024)
22-50482703-C-A			Benign (Jun 05, 2018)
22-50482716-G-A		not specified	Uncertain significance (Jul 25, 2023)
22-50482725-C-T		not specified	Uncertain significance (Jun 10, 2022)
22-50482752-G-A		not specified	Uncertain significance (May 13, 2024)
22-50482769-C-T		not specified	Uncertain significance (Dec 03, 2024)
22-50482775-C-G		not specified	Uncertain significance (Aug 21, 2023)
22-50482794-G-A		not specified	Uncertain significance (Mar 20, 2023)
22-50482818-G-C		not specified	Uncertain significance (Dec 06, 2021)
22-50482850-G-A		not specified	Uncertain significance (Jan 16, 2024)
22-50482854-G-A		not specified	Uncertain significance (May 13, 2024)
22-50482891-C-G		not specified	Uncertain significance (Mar 12, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADM2	protein_coding	protein_coding	ENST00000395738	2	4885

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0200	0.758	119865	0	15	119880	0.0000626

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.110	74	76.7	0.965	0.00000479	878
Missense in Polyphen		23	22.106	1.0405		246
Synonymous	-0.753	38	32.5	1.17	0.00000189	327
Loss of Function	0.848	3	5.06	0.593	4.34e-7	36

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000598	0.0000598
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000118	0.000113
Middle Eastern	0.00	0.00
South Asian	0.0000333	0.0000329
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: IMDL and IMDS may play a role as physiological regulators of gastrointestinal, cardiovascular bioactivities mediated by the CALCRL/RAMPs receptor complexes. Activates the cAMP-dependent pathway. {ECO:0000269|PubMed:14615490}.
• Pathway: 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 (Consensus)

Haploinsufficiency Scores

• pHI: 0.0926
• hipred: N
• hipred_score: 0.243
• ghis: 0.582

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.154

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adm2

Gene ontology

• Biological process: angiogenesis;protein phosphorylation;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;digestion;feeding behavior;regulation of signaling receptor activity;positive regulation of gene expression;positive regulation of angiogenesis;negative regulation of blood pressure
• Cellular component: extracellular region
• Molecular function: hormone activity;protein-containing complex binding