INSL6 (insulin like 6)

Gene

• Entrez ID: 11172
• Gene name: Insulin like 6
• Gene symbol: INSL6
• Synonyms (NCBI Gene): RIF1
• Chromosome: 9
• Chromosome location: 9p24.1
• Summary: The protein encoded by this gene contains a classical signature of the insulin superfamily and is significantly similar to relaxin and relaxin-like factor. This gene is preferentially expressed in testis. Its expression in testis is restricted to intersti

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005179	Function	Hormone activity	IEA
GO:0005179	Function	Hormone activity	NAS	10598589
GO:0005576	Component	Extracellular region	IEA
GO:0007165	Process	Signal transduction	IEA

Other IDs

• MIM: 606414
• HGNC: 6089
• e!Ensembl: ENSG00000120210

Protein

• UniProt ID: Q9Y581
• Protein name: Insulin-like peptide INSL6 (Insulin-like peptide 6) (Relaxin/insulin-like factor 1) [Cleaved into: Insulin-like peptide INSL6 B chain; Insulin-like peptide INSL6 A chain]
• Protein function: May have a role in sperm development and fertilization.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00049	Insulin	30 → 192	Insulin/IGF/Relaxin family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Testis specific.
• Sequence:

  MPRLLRLSLLWLGLLLVRFSRELSDISSARKLCGRYLVKEIEKLCGHANWSQFRFEEETP
  FSRLIAQASEKVEAYSPYQFESPQTASPARGRGTNPVSTSWEEAVNSWEMQSLPEYKDKK
  GYSPLGKTREFSSSHNINVYIHENAKFQKKRRNKIKTLSNLFWGHHPQRKRRGYSEKCCL
  TGCTKEELSIACLPYIDFKRLKEKRSSLVTKIY

• Sequence length: 213

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BUDD-CHIARI SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHROCYTOSIS FAMILIAL, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYTHEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIATIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTHEMIA 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis, Psoriatic	Psoriatic Arthritis	GWASCAT_DG	26626624		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36798786	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22600741	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29887522		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	19562576		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29887522		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	36798786	Inhibit	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	29956214		★☆☆☆☆ Found in Text Mining only
Xanthomatosis, Cerebrotendinous	Cholestanol storage disease	BEFREE	20807758		★☆☆☆☆ Found in Text Mining only