Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	84623
Gene name Gene Name - the full gene name approved by the HGNC.	Kirre like nephrin family adhesion molecule 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KIRREL3
Synonyms (NCBI Gene) Gene synonyms aliases	KIRRE, MRD4, NEPH2, PRO4502
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q24.2
Summary Summary of gene provided in NCBI Entrez Gene.	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 po

Show/Hide all(2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1057519593	C>A,T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1064795581	C>T	Likely-pathogenic	Splice donor variant

Show/Hide all(34)

miRTarBase ID	miRNA	Experiments	Reference
MIRT440363	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440363	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1095296	hsa-miR-1251	CLIP-seq
MIRT1095297	hsa-miR-1273f	CLIP-seq
MIRT1095298	hsa-miR-3613-5p	CLIP-seq
MIRT1095299	hsa-miR-3674	CLIP-seq
MIRT1095300	hsa-miR-4305	CLIP-seq
MIRT1095301	hsa-miR-4732-5p	CLIP-seq
MIRT1095302	hsa-miR-615-5p	CLIP-seq
MIRT1095303	hsa-miR-2467-3p	CLIP-seq
MIRT1095304	hsa-miR-3192	CLIP-seq
MIRT1095305	hsa-miR-3197	CLIP-seq
MIRT1095306	hsa-miR-3689a-3p	CLIP-seq
MIRT1095307	hsa-miR-3689c	CLIP-seq
MIRT1095308	hsa-miR-4728-5p	CLIP-seq
MIRT1095309	hsa-miR-485-5p	CLIP-seq
MIRT2025564	hsa-miR-3690	CLIP-seq
MIRT2025565	hsa-miR-377	CLIP-seq
MIRT2025566	hsa-miR-4290	CLIP-seq
MIRT2025567	hsa-miR-4459	CLIP-seq
MIRT2025568	hsa-miR-4690-3p	CLIP-seq
MIRT2025569	hsa-miR-4779	CLIP-seq
MIRT2025570	hsa-miR-548u	CLIP-seq
MIRT2025571	hsa-miR-665	CLIP-seq
MIRT2025572	hsa-miR-766	CLIP-seq
MIRT2256797	hsa-miR-2682	CLIP-seq
MIRT2256798	hsa-miR-34a	CLIP-seq
MIRT2256799	hsa-miR-34c-5p	CLIP-seq
MIRT2256800	hsa-miR-3714	CLIP-seq
MIRT2025566	hsa-miR-4290	CLIP-seq
MIRT2256801	hsa-miR-449a	CLIP-seq
MIRT2256802	hsa-miR-449b	CLIP-seq
MIRT2256803	hsa-miR-449c	CLIP-seq
MIRT2025572	hsa-miR-766	CLIP-seq

Show/Hide all(31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001764	Process	Neuron migration	IEA
GO:0002121	Process	Inter-male aggressive behavior	IEA
GO:0005515	Function	Protein binding	IPI	12424224, 25902260, 34799561
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IBA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	ISS
GO:0007416	Process	Synapse assembly	IBA
GO:0007416	Process	Synapse assembly	IEA
GO:0007416	Process	Synapse assembly	ISS
GO:0008021	Component	Synaptic vesicle	IDA	25902260
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0021740	Process	Principal sensory nucleus of trigeminal nerve development	IEA
GO:0021766	Process	Hippocampus development	IEA
GO:0021766	Process	Hippocampus development	ISS
GO:0030097	Process	Hemopoiesis	IEA
GO:0030097	Process	Hemopoiesis	ISS
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0043198	Component	Dendritic shaft	IEA
GO:0048812	Process	Neuron projection morphogenesis	IEA
GO:0050839	Function	Cell adhesion molecule binding	IBA
GO:0072102	Process	Glomerulus morphogenesis	IEA
GO:0098609	Process	Cell-cell adhesion	IBA

MIM	HGNC	e!Ensembl
607761	23204	ENSG00000149571

Protein

UniProt ID

Q8IZU9

Protein name

Kin of IRRE-like protein 3 (Kin of irregular chiasm-like protein 3) (Nephrin-like protein 2) [Cleaved into: Processed kin of IRRE-like protein 3]

Protein function

Synaptic adhesion molecule required for the formation of target-specific synapses. Required for formation of target-specific synapses at hippocampal mossy fiber synapses. Required for formation of mossy fiber filopodia, the synaptic structures c

PDB

2CRY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07679	I-set	48 → 145	Immunoglobulin I-set domain	Domain
PF13895	Ig_2	149 → 246	Immunoglobulin domain	Domain
PF07679	I-set	335 → 416	Immunoglobulin I-set domain	Domain
PF13927	Ig_3	419 → 503		Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in fetal and adult brain (PubMed:19012874). Also expressed in kidney, specifically in podocytes of kidney glomeruli (PubMed:12424224). Also expressed in skeletal muscle (PubMed:25488023). {ECO:0000269|PubMed:12424224, ECO:000

Sequence

MKPFQLDLLFVCFFLFSQELGLQKRGCCLVLGYMAKDKFRRMNEGQVYSFSQQPQDQVVV
SGQPVTLLCAIPEYDGFVLWIKDGLALGVGRDLSSYPQYLVVGNHLSGEHHLKILRAELQ
DDAVYECQAIQAAIRSRPARLTVLVPPDDPVILGGPVISLRAGDPLNLTCHADNAKPAAS
IIWLRKGEVINGATYSKTLLRDGKRESIVSTLFISPGDVENGQSIVCRATNKAIPGGKET
SVTIDIQHPPLVNLSVEPQPVLEDNVVTFHCSAKANPAVTQYRWAKRGQIIKEASGEVYR
TTVDYTYFSEPVSCEVTNALGSTNLSRTVDVYFGPRMTTEPQSLLVDLGSDAIFSCAWTG
NPSLTIVWMKRGSGVVLSNEKTLTLKSVRQEDAGKYVCRAVVPRVGAGEREVTLTVNGPP
IISSTQTQHALHGEKGQIKCFIRSTPPPDRIAWSWKENVLESGTSGRYTVETISTEEGVI
STLTISNIVRADFQTIYNCTAWNSFGSDTEIIRLKEQGSEMKSGAGLEAESVPMAVIIGV
AVGAGVAFLVLMATIVAFCCARSQRNLKGVVSAKNDIRVEIVHKEPASGREGEEHSTIKQ
LMMDRGEFQQDSVLKQLEVLKEEEKEFQNLKDPTNGYYSVNTFKEHHSTPTISLSSCQPD
LRPAGKQRVPTGMSFTNIYSTLSGQGRLYDYGQRFVLGMGSSSIELCEREFQRGSLSDSS
SFLDTQCDSSVSSSGKQDGYVQFDKASKASASSSHHSQSSSQNSDPSRPLQRRMQTHV

Sequence length

778

Interactions

View interactions

	Reactome
			Nephrin family interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Mental retardation	Intellectual disability, autosomal dominant 4	rs1057519593	N/A

Show/Hide Unknown Diseases (9)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	N/A	N/A	GWAS
Colorectal Cancer	Colorectal cancer	N/A	N/A	GWAS
Dementia	Dementia	N/A	N/A	GWAS
Glioblastoma	Glioblastoma	N/A	N/A	GWAS
Neurodevelopmental Disorders	complex neurodevelopmental disorder	N/A	N/A	GenCC
Neuroticism	Neuroticism	N/A	N/A	GWAS
Non-Syndromic Intellectual Disability	autosomal dominant non-syndromic intellectual disability	N/A	N/A	GenCC
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Apraxias	Associate	37605258
Autism Spectrum Disorder	Associate	29271092, 37605258
Autistic Disorder	Associate	22521361, 23575222
Carcinoma Hepatocellular	Associate	30945699
Central Nervous System Vascular Malformations	Associate	19012874
Cerebellar Diseases	Associate	37605258
Cerebellar Hypoplasia	Associate	37605258
Chromosome Aberrations	Associate	22521361
Colorectal Neoplasms	Associate	38092774
Congenital Abnormalities	Associate	37605258
Coxa Magna	Associate	37605258
Drug Resistant Epilepsy	Associate	27094248
Facial Dysmorphism with Multiple Malformations	Associate	29271092
Gastrointestinal Stromal Tumors	Associate	24133624
Intellectual Disability	Associate	19012874, 29271092, 37605258
Mohr Tranebjaerg syndrome	Associate	27094248

KIRREL3 (kirre like nephrin family adhesion molecule 3)