2. Gene
  3. SYNJ2 - synaptojanin 2 Gene

SYNJ2 - synaptojanin 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as INPP5H

Gene ID: 8871 | Gene type: protein coding

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 Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
15090612 GOA
Biological Process GO Annotation Evidence Reference 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

Syja_N: SacI homology domain (60 - 347)

Exo_endo_phos

Exo_endo_phos: Endonuclease/Exonuclease/phosphatase family (535 - 855)

DUF1866

DUF1866: Domain of unknown function (DUF1866) (863 - 1008)

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  • 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
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS14094 SYNJ2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-RS14095 SYNJ2BP Human Pre-designed siRNA Set A Pre-designed Sets / 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