AGRP

agouti related neuropeptide, the group of Neuropeptides

Basic information

Region (hg38): 16:67482571-67483547

Links

ENSG00000159723 ∙ NCBI:181 ∙ OMIM:602311 ∙ HGNC:330 ∙ Uniprot:O00253 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Respiratory infections, recurrent, and failure to thrive with or without diarrhea	AR	Allergy/Immunology/Infectious; Cardiovascular; Pulmonary	The condition can involve recurrent respiratory infections, and awareness may allow preventative and treatment measures may be beneficial; Cardiovascular anomalies have been described, and awareness may early diagnosis and management	Allergy/Immunology/Infectious; Cardiovascular; Gastrointestinal; Pulmonary	34952832

ClinVar

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

• not_specified (19 variants)
• not_provided (2 variants)
• Obesity (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AGRP gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001138.2. 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			1		1	2
missense			19	1		20
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	20	1	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AGRP	protein_coding	protein_coding	ENST00000290953	3	1243

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125731	0	9	125740	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.449	70	81.4	0.860	0.00000532	826
Missense in Polyphen		27	33.243	0.81219		313
Synonymous	0.526	29	32.8	0.883	0.00000185	287
Loss of Function	0.331	5	5.87	0.852	3.28e-7	64

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000578	0.0000578
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.000109	0.000109
South Asian	0.000110	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in weight homeostasis. Involved in the control of feeding behavior through the central melanocortin system. Acts as alpha melanocyte-stimulating hormone antagonist by inhibiting cAMP production mediated by stimulation of melanocortin receptors within the hypothalamus and adrenal gland. Has very low activity with MC5R (By similarity). Is an inverse agonist for MC3R and MC4R being able to suppress their constitutive activity. It promotes MC3R and MC4R endocytosis in an arrestin-dependent manner. {ECO:0000250, ECO:0000269|PubMed:10371151, ECO:0000269|PubMed:11145747, ECO:0000269|PubMed:15927146, ECO:0000269|PubMed:17041250, ECO:0000269|PubMed:9892020}.
• Disease: DISEASE: Obesity (OBESITY) [MIM:601665]: A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
• Pathway: Adipocytokine signaling pathway - Homo sapiens (human);Syndecan-3-mediated signaling events (Consensus)

Recessive Scores

• pRec: 0.353

Intolerance Scores

• loftool: 0.471
• rvis_EVS: -0.01
• rvis_percentile_EVS: 53.19

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.926

Gene Damage Prediction

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

Zebrafish Information Network

• Gene name: agrp
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: decreased length

Gene ontology

• Biological process: neuropeptide signaling pathway;circadian rhythm;feeding behavior;adult feeding behavior;hormone-mediated signaling pathway;regulation of signaling receptor activity;response to insulin;eating behavior;long-day photoperiodism;maternal process involved in female pregnancy;regulation of feeding behavior;positive regulation of feeding behavior
• Cellular component: extracellular space;Golgi lumen;neuronal cell body
• Molecular function: signaling receptor binding;neuropeptide hormone activity