INSL5

insulin like 5, the group of Receptor ligands

Basic information

Region (hg38): 1:66797740-66801276

Links

ENSG00000172410 ∙ NCBI:10022 ∙ OMIM:606413 ∙ HGNC:6088 ∙ Uniprot:Q9Y5Q6 ∙ 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 INSL5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the INSL5 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			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	0

Variants in INSL5

This is a list of pathogenic ClinVar variants found in the INSL5 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-66798122-G-A		not specified	Uncertain significance (Jan 02, 2024)
1-66798168-C-A		not specified	Uncertain significance (Aug 05, 2024)
1-66798173-G-A		not specified	Uncertain significance (Jul 15, 2021)
1-66798213-T-C		not specified	Likely benign (Jan 16, 2025)
1-66798243-C-T		not specified	Uncertain significance (Mar 28, 2024)
1-66801064-A-T		not specified	Uncertain significance (Oct 26, 2022)
1-66801086-A-G		not specified	Uncertain significance (Jan 22, 2025)
1-66801103-A-G		not specified	Uncertain significance (Feb 28, 2023)
1-66801119-G-A		not specified	Uncertain significance (Jan 18, 2025)
1-66801172-A-G		not specified	Uncertain significance (May 11, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
INSL5	protein_coding	protein_coding	ENST00000304526	2	3516

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.136	0.638	125695	0	3	125698	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0519	76	74.7	1.02	0.00000406	870
Missense in Polyphen		17	18.908	0.8991		217
Synonymous	0.505	23	26.3	0.875	0.00000128	260
Loss of Function	0.568	1	1.83	0.547	7.54e-8	28

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May have a role in gut contractility or in thymic development and regulation. Activates RXFP4 with high potency and appears to be the endogenous ligand for this receptor.
• Pathway: Relaxin signaling pathway - Homo sapiens (human);Signaling by GPCR;Signal Transduction;Relaxin receptors;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.164

Intolerance Scores

• loftool: 0.577
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.11

Haploinsufficiency Scores

• pHI: 0.162
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0839

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Insl5
• Phenotype: reproductive system phenotype; normal phenotype; renal/urinary system phenotype; homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;biological_process;regulation of signaling receptor activity;positive regulation of feeding behavior
• Cellular component: cellular_component;extracellular region
• Molecular function: G protein-coupled receptor binding;hormone activity