KIRREL2 (kirre like nephrin family adhesion molecule 2)

Gene

• Entrez ID: 84063
• Gene name: Kirre like nephrin family adhesion molecule 2
• Gene symbol: KIRREL2
• Synonyms (NCBI Gene): FILTRIN, NEPH3, NLG1
• Chromosome: 19
• Chromosome location: 19q13.12
• Summary: This gene encodes a type I transmembrane protein and member of the immunoglobulin superfamily of cell adhesion molecules. The encoded protein localizes to adherens junctions in pancreatic beta cells and regulates insulin secretion. Autoantibodies against

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023144	hsa-miR-124-3p	Microarray	18668037
MIRT1095275	hsa-miR-4477a	CLIP-seq
MIRT1095276	hsa-miR-4795-3p	CLIP-seq
MIRT1095277	hsa-miR-4803	CLIP-seq
MIRT2558208	hsa-miR-1238	CLIP-seq
MIRT2558209	hsa-miR-3124-3p	CLIP-seq
MIRT2558210	hsa-miR-3146	CLIP-seq
MIRT2683488	hsa-miR-4303	CLIP-seq
MIRT2683489	hsa-miR-4477b	CLIP-seq
MIRT2683490	hsa-miR-4682	CLIP-seq
MIRT2683491	hsa-miR-4762-3p	CLIP-seq
MIRT2683492	hsa-miR-548a-5p	CLIP-seq
MIRT2683493	hsa-miR-548ab	CLIP-seq
MIRT2683494	hsa-miR-548ak	CLIP-seq
MIRT2683495	hsa-miR-548b-5p	CLIP-seq
MIRT2683496	hsa-miR-548c-5p	CLIP-seq
MIRT2683497	hsa-miR-548d-5p	CLIP-seq
MIRT2683498	hsa-miR-548h	CLIP-seq
MIRT2683499	hsa-miR-548i	CLIP-seq
MIRT2683500	hsa-miR-548j	CLIP-seq
MIRT2683501	hsa-miR-548w	CLIP-seq
MIRT2683502	hsa-miR-548y	CLIP-seq
MIRT2683503	hsa-miR-559	CLIP-seq
MIRT2683504	hsa-miR-627	CLIP-seq
MIRT2683505	hsa-miR-924	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IBA
GO:0005911	Component	Cell-cell junction	IEA
GO:0005911	Component	Cell-cell junction	ISS
GO:0007155	Process	Cell adhesion	NAS	12837264
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	12837264
GO:0036057	Component	Slit diaphragm	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	ISS
GO:0050839	Function	Cell adhesion molecule binding	IBA
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098609	Process	Cell-cell adhesion	IEA

Other IDs

• MIM: 607762
• HGNC: 18816
• e!Ensembl: ENSG00000126259

Protein

• UniProt ID: Q6UWL6
• Protein name: Kin of IRRE-like protein 2 (Kin of irregular chiasm-like protein 2) (Nephrin-like protein 3)
• Protein function: May regulate basal insulin secretion.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07679	I-set	24 → 121	Immunoglobulin I-set domain	Domain
  PF08205	C2-set_2	126 → 214	CD80-like C2-set immunoglobulin domain	Domain
  PF13927	Ig_3	312 → 378		Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in beta-cells of the pancreatic islets. {ECO:0000269|PubMed:12837264}.
• Sequence:

  MLRMRVPALLVLLFCFRGRAGPSPHFLQQPEDLVVLLGEEARLPCALGAYWGLVQWTKSG
  LALGGQRDLPGWSRYWISGNAANGQHDLHIRPVELEDEASYECQATQAGLRSRPAQLHVL
  VPPEAPQVLGGPSVSLVAGVPANLTCRSRGDARPTPELLWFRDGVLLDGATFHQTLLKEG
  TPGSVESTLTLTPFSHDDGATFVCRARSQALPTGRDTAITLSLQYPPEVTLSASPHTVQE
  GEKVIFLCQATAQPPVTGYRWAKGGSPVLGARGPRLEVVADASFLTEPVSCEVSNAVGSA
  NRSTALDVLFGPILQAKPEPVSVDVGEDASFSCAWRGNPLPRVTWTRRGGAQVLGSGATL
  RLPSVGPEDAGDYVCRAEAGLSGLRGGAAEARLTVNAPPVVTALHSAPAFLRGPARLQCL
  VFASPAPDAVVWSWDEGFLEAGSQGRFLVETFPAPESRGGLGPGLISVLHISGTQESDFS
  RSFNCSARNRLGEGGAQASLGRRDLLPTVRIVAGVAAATTTLLMVITGVALCCWRHSKAS
  ASFSEQKNLMRIPGSSDGSSSRGPEEEETGSREDRGPIVHTDHSDLVLEEKGTLETKDPT
  NGYYKVRGVSVSLSLGEAPGGGLFLPPPSPLGPPGTPTFYDFNPHLGMVPPCRLYRARAG
  YLTTPHPRAFTSYIKPTSFGPPDLAPGTPPFPYAAFPTPSHPRLQTHV

• Sequence length: 708

Pathways

Reactome:

Nephrin family interactions

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
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROSIS, CONGENITAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental delay	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Chronic Kidney Diseases	Kidney Disease	GWASCAT_DG	29545352		★☆☆☆☆ Found in Text Mining only
Hematuria Benign Familial	Hematuria	Pubtator	28334007	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	28334007		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	28334007	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	GWASCAT_DG	29545352		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	35771282	Associate	★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	34446027	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	39314522	Associate	★☆☆☆☆ Found in Text Mining only