2. Gene
  3. KIRREL3 - kirre like nephrin family adhesion molecule 3 Gene

KIRREL3 - kirre like nephrin family adhesion molecule 3 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

KIRREL3 Protein Structure

I-set

I-set: Immunoglobulin I-set domain (49 - 132)

C2-set_2

C2-set_2: CD80-like C2-set immunoglobulin domain (165 - 233)

Ig_2

Ig_2: Immunoglobulin domain (254 - 324)

I-set

I-set: Immunoglobulin I-set domain (335 - 416)

I-set

I-set: Immunoglobulin I-set domain (421 - 515)

  • 0
  • 200
  • 400
  • 600
  • 778 a.a.
Protein Preferred Names Protein Names

kin of IRRE-like protein 3

kin of IRRE like 3

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 / 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