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NIPSNAP3B belongs to a family of proteins with putative roles in vesicular trafficking (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008]
NIPSNAP3B (Nipsnap Homolog 3B) is a Protein Coding gene. Diseases associated with NIPSNAP3B include Ischemic Neuropathy and Splenic Artery Aneurysm. An important paralog of this gene is NIPSNAP3A.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH09J104763 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE CraniofacialAtlas | 610.4 | +0.7 | 660 | 2.4 | FOXA1 RBFOX2 PATZ1 NR2C1 POLR2A SCRT2 KMT2B NONO KLF9 MGA | NIPSNAP3B NIPSNAP3A RALGAPA1P1 FKTN lnc-NIPSNAP3B-2 ABCA1 | |
GH09J104754 | Promoter | 0.3 | EPDnew | 600.4 | -9.2 | -9155 | 0.1 | NIPSNAP3B NIPSNAP3A | ||
GH09J104772 | Enhancer | 1.1 | ENCODE dbSUPER | 0.4 | +11.1 | 11082 | 3.8 | SP1 ZNF512 LEF1 IKZF1 POLR2A JUND DDX20 MTA2 PHF21A PKNOX1 | lnc-NIPSNAP3B-2 NIPSNAP3A NIPSNAP3B piR-33804-159 ABCA1 | |
GH09J104758 | Enhancer | 0.6 | Ensembl ENCODE | 0.7 | -4.4 | -4383 | 1.1 | ATF2 EZH2 CREB1 | NIPSNAP3A NIPSNAP3B | |
GH09J104779 | Enhancer | 1 | Ensembl ENCODE dbSUPER | 0.4 | +17.4 | 17360 | 3.4 | CTCF REST RAD21 TRIM22 CEBPB RBM22 JUND NR2F2 FOSL2 RFX5 | NIPSNAP3A lnc-NIPSNAP3B-2 NIPSNAP3B piR-33804-159 ABCA1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IBA | 21873635 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NIPSNAP3B 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NIPSNAP3A 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Nipsnap3b 31 |
|
ManyToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | nipsnap3 31 |
|
OneToMany | |
zgc56466 30 |
|
||||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8944 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
778962 | Benign: not provided | 104,773,004(+) | A/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
rs10761084 | - | p.Ala94Pro | |||
rs3739740 | - | p.Lys154Glu | |||
rs3739741 | - | p.Ala159Gly |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2666191 | CNV | deletion | 23128226 |
esv3621343 | CNV | loss | 21293372 |
esv3621344 | CNV | loss | 21293372 |
esv3891705 | CNV | loss | 25118596 |
esv3891706 | CNV | gain | 25118596 |
nsv521783 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ischemic neuropathy |
|
|
splenic artery aneurysm |
|
|
3-methylglutaconic aciduria, type i |
|
|