KIRREL2 - kirre like nephrin family adhesion molecule 2 Gene

Also Known as NLG1; NEPH3; FILTRIN

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84063

About KIRREL2

Cytogenetic location: 19q13.12 Genomic coordinates (GRCh38): 19:35,851,399-35,867,136 (from NCBI)

This gene has 5 transcripts (splice variants), 192 orthologues and 3 paralogues. Biased expression in pancreas (RPKM 5.8), kidney (RPKM 0.6) and 3 other tissues.

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 the encoded protein have been detected in serum from patients with type 1 diabetes. This gene may also play a role in glomerular development and decreased expression of this gene has been observed in human glomerular diseases. This gene and the related opposite-strand gene nephrin (GeneID: 527362) are regulated by a bidirectional promoter. [provided by RefSeq, Jul 2016]

KIRREL2 Products (5)

mRNA	Protein	Name
NM_001329530.2	NP_001316459.1	kin of IRRE-like protein 2 isoform d precursor
NM_001363667.2	NP_001350596.1	kin of IRRE-like protein 2 isoform e precursor
NM_032123.7	NP_115499.5	kin of IRRE-like protein 2 isoform a precursor
NM_199179.4	NP_954648.3	kin of IRRE-like protein 2 isoform b precursor
NM_199180.4	NP_954649.3	kin of IRRE-like protein 2 isoform c precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
kin of IRRE-like protein 2	kin of IRRE like 2

KIRREL2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	KIRREL2	Q6UWL6	PSMA3	Homo sapiens	P25788	Validated Y2H	25416956
Intra	KIRREL2	Q6UWL6	PSMA3	Homo sapiens	P25788	Y2H Prey Pooling	25416956
Intra	KIRREL2	Q6UWL6	FHL3	Homo sapiens	Q13643	Y2H Array	25416956
Intra	KIRREL2	Q6UWL6	FHL3	Homo sapiens	Q13643	Validated Y2H	25416956
Intra	KIRREL2	Q6UWL6	FHL3	Homo sapiens	Q13643	Y2H Prey Pooling	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant KIRREL2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P77043	KIRREL2/NEPH3 Protein, Human (HEK293, Fc)	Q6UWL6-1 (G21-R503)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P77044	KIRREL2/NEPH3 Protein, Human (HEK293, His)	Q6UWL6-1 (G21-R503)	≥ 95%, as determined by reducing SDS-PAGE.

KIRREL2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811042	FILTRIN Antibody	WB, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Nephrotic Syndrome, Type 1	Finnish Congenital Nephrosis NPHS1 Cnf Finnish Congenital Nephrotic Syndrome Nephrotic Syndrome Type 1 Nephrosis, Congenital Congenital Nephrotic Syndrome Nephrotic Syndrome, Congenital Congenital Nephrotic Syndrome Finnish Type Congenital Nephrotic Syndrome 1 Nephrosis 1, Congenital, Finnish Type Congenital Nephrotic Syndrome, Finnish Type Nephrotic Syndrome 1 Congenital Nephrotic Syndrome Of The Finnish Type
Nephrotic Syndrome	Finnish Congenital Nephrotic Syndrome Ns - [Nephrotic Syndrome] Nephrosis Syndrome Nephrosis Nos Glomerular Lesion Nephrosis
Basan Syndrome	Adermatoglyphia With Congenital Facial Milia And Acral Blisters, Digital Contractures, And Nail Abnormalities Ectodermal Dysplasia, Absent Dermatoglyphic Pattern, Changes In Nails, And Simian Crease Baird Syndrome Absence Of Fingerprints-Congenital Milia Syndrome Absence Of Fingerprints Congenital Milia Absence Of Dermatoglyphics Congenital Milia Absence Of Dermatoglyphics-Congenital Milia Syndrome Basan-Baird Syndrome BSNS Adermatoglyphia, Congenital Facial Milia, Acral Blisters, Digital Contractures, Nail Abnormalities
Familial Nephrotic Syndrome	Congenital Nephrotic Syndrome Nephrosis, Congenital Finnish Congenital Nephrotic Syndrome
Focal Segmental Glomerulosclerosis	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome Focal Glomerulosclerosis Fsgs Segmental Glomerulosclerosis Glomerulosclerosis, Focal Segmental Fgs Focal Glomerular Sclerosis Familial Idiopathic Nephrotic Syndrome Focal Sclerosis With Hyalinosis Glomerulosclerosis, Focal Glomerulosclerosis Focal Glomerulosclerosis, Segmental, Focal Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Hematuria, Benign Familial	Benign Familial Hematuria BFH Thin Membrane Nephropathy Tmn Thin Basement Membrane Nephropathy Thin-Basement-Membrane Nephropathy Hematuria, Familial Benign Hematuria Benign Familial Hematuria, Benign, Familial Thin Basement Membrane Disease
Autosomal Dominant Alport Syndrome	Alport Syndrome, Autosomal Dominant Alport Syndrome Dominant Type Renal Failure And Sensorineural Hearing Loss Alport Syndrome, Dominant Type

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07313	KIRREL2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20634	Kirrel2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27143	Kirrel2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	KIRREL2	VGNC	VGNC:97781
Mus musculus	KIRREL2	MGD	MGI:2442334
Canis familiaris	KIRREL2	VGNC	VGNC:42419
Rattus norvegicus	KIRREL2	RGD	RGD:1308456
Felis catus	KIRREL2	VGNC	VGNC:63123
Bos taurus	KIRREL2	VGNC	VGNC:30615
Others	KIRREL2	NCBI