SYNJ2 - synaptojanin 2 Gene

Also Known as INPP5H

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8871

About SYNJ2

Cytogenetic location: 6q25.3 Genomic coordinates (GRCh38): 6:157,981,296-158,099,176 (from NCBI)

This gene has 9 transcripts (splice variants), 142 orthologues and 13 paralogues. Ubiquitous expression in brain (RPKM 8.6), colon (RPKM 3.7) and 25 other tissues.

Summary

The gene is a member of the inositol-polyphosphate 5-phosphatase family. The encoded protein interacts with the ras-related C3 botulinum toxin substrate 1, which causes translocation of the encoded protein to the plasma membrane where it inhibits clathrin-mediated endocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

SYNJ2 Products (3)

mRNA	Protein	Name
NM_001178088.2	NP_001171559.1	synaptojanin-2 isoform 2
NM_001410947.1	NP_001397876.1	synaptojanin-2 isoform 3
NM_003898.4	NP_003889.1	synaptojanin-2 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15090612	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in synaptic vesicle endocytosis	IDA IDA: Inferred from direct assay	11498538	GOA
involved in synaptic vesicle endocytosis	IMP IMP: Inferred from mutant phenotype	11498538	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

SYNJ2 Protein Structure

Syja_N

Exo_endo_phos

DUF1866

0
300
600
900
1200
1496 a.a.

Protein Preferred Names	Protein Names
synaptojanin-2	inositol phosphate 5'-phosphatase 2

Related Diseases

Diseases	Alias
Charcot-Marie-Tooth Disease, Type 4j	Charcot-Marie-Tooth Disease Type 4j CMT4J Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j Autosomal Recessive Charcot-Marie-Tooth Disease Type 4j Charcot-Marie-Tooth Disease 4j
Amyotrophic Lateral Sclerosis 11	Amyotrophic Lateral Sclerosis Type 11 ALS11 Sclerosis, Lateral, Amyotrophic, Type Type 11
Deafness, Autosomal Recessive 61	DFNB61 Autosomal Recessive Nonsyndromic Deafness 61 Autosomal Recessive Deafness 61 Deafness, Autosomal Recessive, 61 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 61 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 61 Deafness, Autosomal Recessive, Type 61
Coffin-Siris Syndrome 1	Coffin-Siris Syndrome Fifth Digit Syndrome Css CSS1 Mrd12 Mental Retardation, Autosomal Dominant 12 Hhid Dwarfism-Onychodysplasia Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features Autosomal Dominant Mental Retardation 12 Short Stature-Onychodysplasia. Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx Mental Retardation With Hypoplastic Fifth Fingernails And Toenails Short Stature-Onychodysplasia Coffin-Siris Syndrome, Type 1 Mental Retardation, Autosomal Dominant, Type 12
Lowe Oculocerebrorenal Syndrome	Lowe Syndrome Oculocerebrorenal Syndrome OCRL Oculocerebrorenal Syndrome Of Lowe Ocrl1 Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency Lowe Disease Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency Cerebrooculorenal Syndrome Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency Lowe Oculo-Cerebro-Renal Dystrophy Lowe Oculo-Cerebro-Renal Syndrome Lowe Oculocerebrorenal Dystrophy Low Chromosome 11p Deletion Syndrome Oculocerebrorenal Dystrophy Cerebro-Oculorenal Dystrophy Ocrl1 - [Oculocerebrorenal Syndrome] Lowe-Terrey-Maclachlan Syndrome Renal-Oculocerebrodystrophy
Trichothiodystrophy 3, Photosensitive	TTD3 Trichothiodystrophy, Complementation Group A Ttda Photosensitive Trichothiodystrophy 3 Trichothiodystrophy Complementation Group A
Yunis-Varon Syndrome	Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia Yunis Varon Syndrome YVS Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia Yunis-Varón Syndrome
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-141659	CMPD-39		99.74%	Unkown
HY-141659A	(R)-CMPD-39		99.78%	Unkown
HY-RS14094	SYNJ2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS14095	SYNJ2BP Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SYNJ2	RGD	RGD:69436
Bos taurus	SYNJ2	VGNC	VGNC:35528
Canis familiaris	SYNJ2	VGNC	VGNC:47033
Felis catus	SYNJ2	VGNC	VGNC:65887
Macaca mulatta	SYNJ2	VGNC	VGNC:83473
Mus musculus	SYNJ2	MGD	MGI:1201671
Others	SYNJ2	NCBI