RETN

resistin

Basic information

Region (hg38): 19:7669049-7670455

Links

ENSG00000104918 ∙ NCBI:56729 ∙ OMIM:605565 ∙ HGNC:20389 ∙ Uniprot:Q9HD89 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• diabetes mellitus, noninsulin-dependent (Limited), mode of inheritance: AD

ClinVar

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

Variants pathogenicity by type

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

Variants in RETN

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

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

Position	Type	Phenotype	Significance	ClinVar
19-7669318-G-T		RETN-related disorder	Likely benign (Aug 20, 2019)
19-7669333-GCT-G		Autism	Uncertain significance (-)
19-7669416-G-C		not specified	Uncertain significance (Dec 27, 2023)
19-7669829-G-A		not specified	Uncertain significance (Jan 27, 2022)
19-7669869-C-G		not specified	Uncertain significance (Jul 10, 2024)
19-7670300-G-A		not specified	Uncertain significance (Sep 27, 2024)
19-7670411-G-A		Diabetes mellitus type 2, susceptibility to • HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO	risk factor (Mar 01, 2003)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RETN	protein_coding	protein_coding	ENST00000221515	3	1405

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0365	0.648	125741	0	5	125746	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.121	60	62.7	0.957	0.00000303	680
Missense in Polyphen		22	25.466	0.86389		284
Synonymous	0.144	26	27.0	0.965	0.00000141	220
Loss of Function	0.385	2	2.68	0.746	1.13e-7	34

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000905	0.0000905
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000187	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Hormone that seems to suppress insulin ability to stimulate glucose uptake into adipose cells (By similarity). Potentially links obesity to diabetes (By similarity). Promotes chemotaxis in myeloid cells (PubMed:15064728). {ECO:0000250|UniProtKB:Q99P87, ECO:0000269|PubMed:15064728}.
• Pathway: Adipogenesis;Neutrophil degranulation;visceral fat deposits and the metabolic syndrome;Innate Immune System;Immune System (Consensus)

Intolerance Scores

• loftool: 0.720
• rvis_EVS: 0.01
• rvis_percentile_EVS: 54.63

Haploinsufficiency Scores

• pHI: 0.0715
• hipred: N
• hipred_score: 0.180
• ghis: 0.508

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0931

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Retn
• Phenotype: liver/biliary system phenotype; immune system phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype

Gene ontology

• Biological process: aging;biological_process;response to mechanical stimulus;regulation of signaling receptor activity;response to insulin;neutrophil degranulation;fat cell differentiation;positive regulation of synaptic transmission;negative regulation of feeding behavior;positive regulation of progesterone secretion
• Cellular component: extracellular region;extracellular space;nucleus;azurophil granule lumen;specific granule lumen;extracellular exosome
• Molecular function: hormone activity