SYNJ2 synaptojanin 2 [Homo sapiens] - Gene

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Summary

Official Symbol: SYNJ2provided by HGNC
Official Full Name: synaptojanin 2provided by HGNC
Primary source: HGNC:11504
Locus tag: RP11-266C7.2
See related: Ensembl:ENSG00000078269; HPRD:10259; MIM:609410; Vega:OTTHUMG00000015904
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: INPP5H; KIAA0348; MGC44422
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]

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Genomic context

Location :: 6q25.3

Sequence :: Chromosome: 6; NC_000006.11 (158402888..158520208)

See SYNJ2 in Epigenomics, MapViewer

Chromosome 6 - NC_000006.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

SYNJ2 is a target gene of the BACH1 transcription factor according to ChIP-seq analysis in HEK 293 cells.
Title: The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.
Since Syn 2 is a phosphatidylinositol 4,5-biphosphatase involved in cell growth and rearrangement of actin filaments, the increased Syn 2 expression may correlate with the hairy cell leukemia etiology or the characteristic morphologic alterations.
Title: Synaptojanin 2 is recognized by HLA class II-restricted hairy cell leukemia-specific T cells.
contributes to the role of Rac1 in cell invasion and migration by regulating the formation of invadopodia and lamellipodia
Title: Role of synaptojanin 2 in glioma cell migration and invasion.
Identification of inactivating mutations in the JAK1, SYNJ2, and CLPTM1 genes in prostate cancer cells
Title: Identification of inactivating mutations in the JAK1, SYNJ2, and CLPTM1 genes in prostate cancer cells using inhibition of nonsense-mediated decay and microarray analysis.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
O15056	P62993	GRB2	HPRD	PubMed
O15056	Q9NZM3	ITSN2	HPRD	PubMed
O15056	P16333	NCK1	HPRD	PubMed
O15056	P63000	RAC1	HPRD	PubMed
O15056	O15056	SYNJ2	HPRD	PubMed
O15056	P57105	SYNJ2BP	HPRD	PubMed
BioGRID:114391	BioGRID:198584	Cd2ap	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114391	BioGRID:109142	GRB2	BioGRID	PubMed	Two-hybrid
BioGRID:114391	BioGRID:119098	ITSN2	BioGRID	PubMed	Two-hybrid
BioGRID:114391	BioGRID:111817	RAC1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:114391	BioGRID:109072	SFN	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114391	BioGRID:112353	SH3GL2	BioGRID	PubMed	Reconstituted Complex
BioGRID:114391	BioGRID:120614	SYNJ2BP	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:114391	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
PDZ domain binding	IEA Inferred from Electronic Annotation more info
RNA binding	IEA Inferred from Electronic Annotation more info
SH3 domain binding	IEA Inferred from Electronic Annotation more info
hydrolase activity	IEA Inferred from Electronic Annotation more info
inositol-polyphosphate 5-phosphatase activity	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IEA Inferred from Electronic Annotation more info
phosphoric ester hydrolase activity	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
brain development	IEA Inferred from Electronic Annotation more info
inositol phosphate dephosphorylation	IEA Inferred from Electronic Annotation more info
intracellular distribution of mitochondria	IEA Inferred from Electronic Annotation more info
phosphatidylinositol dephosphorylation	IEA Inferred from Electronic Annotation more info
phosphatidylinositol phosphorylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
axon terminus	IEA Inferred from Electronic Annotation more info
cytoplasm	IEA Inferred from Electronic Annotation more info
cytoplasmic microtubule	IEA Inferred from Electronic Annotation more info
extrinsic to mitochondrial outer membrane	IEA Inferred from Electronic Annotation more info
insoluble fraction	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info
perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
ruffle membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: synaptojanin-2

Names: synaptojanin-2; inositol phosphate 5'-phosphatase 2; synaptic inositol 1,4,5-trisphosphate 5-phosphatase 2; synaptic inositol-1,4,5-trisphosphate 5-phosphatase 2

NP_001171559.1

EC 3.1.3.36

NP_003889.1

EC 3.1.3.36

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029907.1 RefSeqGene

Range

5001..122321

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001178088.1 → NP_001171559.1 synaptojanin-2 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The resulting protein (isoform 2) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AF086449, AL139330, BX648749, DA327619

Conserved Domains (4) summary

COG5329
Location:2 – 248
Blast Score: 430

COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]

pfam08952
Location:626 – 771
Blast Score: 550

DUF1866; Domain of unknown function (DUF1866)

cd09099
Location:293 – 627
Blast Score: 1822

INPP5c_Synj2; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of synaptojanin 2

pfam02383
Location:2 – 102
Blast Score: 317

Syja_N; SacI homology domain
NM_003898.3 → NP_003889.1 synaptojanin-2 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). This variant (1) is also known as synaptojanin 2B or 2B2 (SJ2B2).

Source sequence(s)

AF086449, AF318616, AK294480, AL139330

Consensus CDS

CCDS5254.1

UniProtKB/TrEMBL

B4DG94

UniProtKB/Swiss-Prot

O15056

Related

ENSP00000347792, OTTHUMP00000017494, ENST00000355585, OTTHUMT00000042858

Conserved Domains (3) summary

pfam08952
Location:863 – 1008
Blast Score: 550

DUF1866; Domain of unknown function (DUF1866)

cd09099
Location:530 – 864
Blast Score: 1824

INPP5c_Synj2; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of synaptojanin 2

pfam02383
Location:60 – 339
Blast Score: 822

Syja_N; SacI homology domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000006.11 Reference GRCh37.p5 Primary Assembly

Range

158402888..158520208

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000138.1 Alternate HuRef

Range

155875294..155992255

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL139330.17	CAI12978.1
		CAI12982.1
		CAI12983.1
		CAI12984.1
genomic	CH471051.2	EAW47665.1
		EAW47666.1
		EAW47667.1
genomic	FB336978.1	CAR81445.1
genomic	HH768317.1	CBX84907.1
mRNA	AB002346.2	BAA20805.2
mRNA	AF039945.1	AAD02178.1
mRNA	AF086449.1	None
mRNA	AF318616.1	AAG46036.1
mRNA	AK074294.1	None
mRNA	AK294480.1	BAG57705.1
mRNA	AK296242.1	BAG58960.1
mRNA	AK296935.1	BAG59486.1
mRNA	AK309018.1	None
mRNA	AL157424.1	None
mRNA	AY152396.1	AAN73051.1
mRNA	BC042971.2	None
mRNA	BC043277.2	AAH43277.1
mRNA	BX648749.1	None
mRNA	DA327619.1	None