KIRREL3 (kirre like nephrin family adhesion molecule 3)

2014-11-01 Affiliation

Identity

HGNC

KIRREL3

LOCATION

11q24.2

LOCUSID

84623

ALIAS

KIRRE,MRD4,NEPH2,PRO4502

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 84623
MIM: 607761
HGNC: 23204
Ensembl: ENSG00000149571

Variants:

dbSNP: 84623
ClinVar: 84623
TCGA: ENSG00000149571
COSMIC: KIRREL3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000149571	ENST00000525144	Q8IZU9
ENSG00000149571	ENST00000525704	Q8IZU9
ENSG00000149571	ENST00000529097	E9PRX9

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Cell-Cell communication	REACTOME	R-HSA-1500931
Nephrin interactions	REACTOME	R-HSA-373753

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
37977826	2023	Modular Splicing Is Linked to Evolution in the Synapse-Specificity Molecule Kirrel3.	0
37977826	2023	Modular Splicing Is Linked to Evolution in the Synapse-Specificity Molecule Kirrel3.	0
35863131	2022	Preliminary study on the role and mechanism of KIRREL3 in the development of esophageal squamous cell carcinoma.	0
35863131	2022	Preliminary study on the role and mechanism of KIRREL3 in the development of esophageal squamous cell carcinoma.	0
25902260	2015	Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment.	21
25902260	2015	Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment.	21
25488023	2014	Identification of novel Kirrel3 gene splice variants in adult human skeletal muscle.	2
25488023	2014	Identification of novel Kirrel3 gene splice variants in adult human skeletal muscle.	2
20237496	2010	New genetic associations detected in a host response study to hepatitis B vaccine.	37
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
20237496	2010	New genetic associations detected in a host response study to hepatitis B vaccine.	37
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
19012874	2008	Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.	50
19012874	2008	Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.	50

Citation

Dessen P

KIRREL3 (kirre like nephrin family adhesion molecule 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64939/haematological-explorer/css/cancer-prone-explorer/