1. Gene
  2. KIRREL2 - kirre like nephrin family adhesion molecule 2 Gene

KIRREL2 - kirre like nephrin family adhesion molecule 2 Gene

Homo sapiens

Also known as NLG1; NEPH3; FILTRIN

Gene ID: 84063 | Gene type: protein coding

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 Reference 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 Reference
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%
HY-P77044 KIRREL2/NEPH3 Protein, Human (HEK293, His) Q6UWL6-1 (G21-R503) ≥95%

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

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