KIRREL3 - kirre like nephrin family adhesion molecule 3 Gene

Homo sapiens

Also known as MRD4; KIRRE; NEPH2; PRO4502

Gene ID: 84623 | Gene type: protein coding

About KIRREL3

Cytogenetic location: 11q24.2 Genomic coordinates (GRCh38): 11:126,423,358-127,000,870 (from NCBI)

This gene has 9 transcripts (splice variants), 246 orthologues, 3 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 6.0), adrenal (RPKM 0.5) and 1 other tissue.

Summary

The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. The protein encoded by this gene is a synaptic cell adhesion molecule with multiple extracellular immunoglobulin-like domains and a cytoplasmic PDZ domain-binding motif. Mutations in this gene are associated with several neurological and cognitive disorders. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

KIRREL3 Products(3)

mRNA	Protein	Name
NM_001161707.1	NP_001155179.1	kin of IRRE-like protein 3 isoform 2 precursor
NM_001301097.1	NP_001288026.1	kin of IRRE-like protein 3 isoform 3 precursor
NM_032531.4	NP_115920.1	kin of IRRE-like protein 3 isoform 1 precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12424224	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in synaptic vesicle	IDA IDA: Inferred from direct assay	25902260	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

KIRREL3 Protein Structure

I-set

C2-set_2

Ig_2

I-set

0
200
400
600
778 a.a.

Protein Preferred Names

Protein Names

kin of IRRE-like protein 3

kin of IRRE like 3

KIRREL3 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	KIRREL3	Q8IZU9	UFC1	Homo sapiens	Q9Y3C8	Y2H	25902260
Intra	KIRREL3	Q8IZU9	UFC1	Homo sapiens	Q9Y3C8	Anti Tag CoIP	25902260
Intra	KIRREL3	Q8IZU9	UFC1	Homo sapiens	Q9Y3C8	IF	25902260
Intra	KIRREL3	Q8IZU9	RDX	Homo sapiens	P35241	FPS	34799561
Intra	KIRREL3	Q8IZU9	MYO16	Homo sapiens	Q9Y6X6	IF	25902260
Intra	KIRREL3	Q8IZU9	MYO16	Homo sapiens	Q9Y6X6	Y2H	25902260
Intra	KIRREL3	Q8IZU9	MYO16	Homo sapiens	Q9Y6X6	Anti Tag CoIP	25902260
Intra	KIRREL3	Q8IZU9	SHMT2	Homo sapiens	P34897	Y2H	25902260
Intra	KIRREL3	Q8IZU9	SHMT2	Homo sapiens	P34897	Anti Tag CoIP	25902260
Intra	KIRREL3	Q8IZU9	SHMT2	Homo sapiens	P34897	IF	25902260
Intra	KIRREL3	Q8IZU9	ATP1B1	Homo sapiens	P05026	Y2H	25902260
Intra	KIRREL3	Q8IZU9	ATP1B1	Homo sapiens	P05026	Anti Tag CoIP	25902260
Intra	KIRREL3	Q8IZU9	ATP1B1	Homo sapiens	P05026	IF	25902260
Intra	KIRREL3	Q8IZU9	P46821-PRO_0000018605	Homo sapiens	P46821-PRO_0000018605	IF	25902260
Intra	KIRREL3	Q8IZU9	P46821-PRO_0000018605	Homo sapiens	P46821-PRO_0000018605	Anti Tag CoIP	25902260
Intra	KIRREL3	Q8IZU9	P46821-PRO_0000018605	Homo sapiens	P46821-PRO_0000018605	Y2H	25902260

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Autosomal Dominant Non-Syndromic Intellectual Disability

Intellectual Developmental Disorder, Autosomal Dominant 4

MRD4	Autosomal Dominant Non-Syndromic Intellectual Disability 4
Mental Retardation, Autosomal Dominant 4	Autosomal Dominant Intellectual Developmental Disorder 4

Jacobsen Syndrome

Chromosome 11q Deletion Syndrome	Partial 11q Monosomy Syndrome
Jacobsen Distal 11q Deletion Syndrome	JBS
11q Partial Monosomy Syndrome	Chromosome 11q Deletion
11q Deletion	11q Monosomy
Deletion 11q	Monosomy 11q
Partial Monosomy 11q	11q Deletion Disorder
11q Deletion Syndrome	11q Terminal Deletion Disorder
11q- Deletion Syndrome	11q23 Deletion Disorder
Jacobsen Thrombocytopenia	11q Terminal Deletion Syndrome
Del(11)(Q23.3)	Del(11)(Qter)
Distal Deletion 11q	Distal Monosomy 11q
Monosomy 11qter	Telomeric Deletion 11q
Paris-Trousseau Thrombocytopenia

Heimler Syndrome 2

HMLR2	Peroxisome Biogenesis Disorder 4c
Pbd4c	Peroxisomal Biogenesis Disorder 4c
Heimler Syndrome, Type 2

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

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07314	KIRREL3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	KIRREL3	VGNC	VGNC:101296
Mus musculus	KIRREL3	MGD	MGI:1914953
Felis catus	KIRREL3	VGNC	VGNC:63124
Rattus norvegicus	KIRREL3	RGD	RGD:1311382
Canis familiaris	KIRREL3	VGNC	VGNC:42420
Bos taurus	KIRREL3	VGNC	VGNC:55058
Others	KIRREL3	NCBI

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