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This gene product is a member of the Vanin family of proteins that share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. The encoded protein is a GPI-anchored cell surface molecule that plays a role in transendothelial migration of neutrophils. This gene lies in close proximity to, and in same transcriptional orientation as two other vanin genes on chromosome 6q23-q24. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]
VNN2 (Vanin 2) is a Protein Coding gene. Diseases associated with VNN2 include Trichuriasis and Localized Chondrosarcoma. Among its related pathways are Metabolism of proteins and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds and pantetheine hydrolase activity. An important paralog of this gene is VNN1.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH06J132755 | Promoter/Enhancer | 1.6 | EPDnew FANTOM5 Ensembl ENCODE | 313.9 | +5.8 | 5840 | 3.3 | BCL11A FEZF1 ZFP64 ZNF513 FOXA2 EBF1 ZNF316 PRDM6 SPI1 BATF | VNN2 VNN3 STX7 ENSG00000234484 | |
GH06J132762 | Promoter/Enhancer | 1.3 | EPDnew Ensembl ENCODE | 250.7 | +0.2 | 193 | 2.2 | GABPA SPI1 BATF ELF1 MTA3 RAD21 POLR2A HLF IKZF2 EED | RBM11P1 VNN2 lnc-RPS12-3 VNN3 SLC18B1 VNN1 ENSG00000234484 | |
GH06J132764 | Enhancer | 0.3 | ENCODE | 250.7 | -1.0 | -955 | 0 | RAD21 YY1 | RBM11P1 VNN2 lnc-RPS12-3 VNN3 SLC18B1 | |
GH06J132749 | Enhancer | 0.8 | FANTOM5 | 78.4 | +14.2 | 14237 | 0.2 | CEBPA THAP11 CEBPB EP300 GABPA RXRA ETV4 GABPB1 JUND FOXP1 | VNN2 STX7 ENSG00000234484 HSALNG0053556 VNN3 | |
GH06J132746 | Enhancer | 0.5 | FANTOM5 ENCODE | 89.1 | +17.2 | 17181 | 0.3 | CTCF | VNN2 STX7 SLC18B1 HSALNG0053556 ENSG00000234484 VNN3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 32814053 |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0016811 | hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides | IEA | -- |
GO:0017159 | pantetheine hydrolase activity | IBA,IDA | 11491533 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0031225 | anchored component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of water-soluble vitamins and cofactors | ||
2 | Metabolism of proteins | ||
3 | Pantothenate and CoA biosynthesis | ||
4 | Metabolism |
.40
|
|
5 | Post-translational modification- synthesis of GPI-anchored proteins |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006807 | nitrogen compound metabolic process | IEA | -- |
GO:0015939 | pantothenate metabolic process | TAS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
pantetheine |
|
496-65-1 |
|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | · | 3c | · | 3d | · | 3e | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||||||
SP8: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | VNN2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | VNN2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | VNN2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | VNN1 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Btd 30 31 |
|
ManyToMany | |
CG3599 32 |
|
|
|||
CG32751 31 |
|
ManyToMany | |||
vanin-like 31 32 |
|
ManyToMany | |||
CG32750 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs139348170 | Likely Benign: not provided | 132,757,747(-) |
G/A NM_004665.5(VNN2):c.137C>T (p.Ser46Phe) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR | |
rs147008540 | Benign: not provided | 132,757,494(-) |
G/A NM_004665.5(VNN2):c.266C>T (p.Thr89Ile) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs33950336 | Benign: not provided. - | 132,757,834(-) |
G/Tp.Thr17Asn NM_004665.5(VNN2):c.50C>A (p.Thr17Asn) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON | |
rs34856068 | Benign: not provided | 132,751,167(-) |
C/T NM_004665.5(VNN2):c.1178G>A (p.Arg393Gln) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON | |
rs864622023 | Uncertain Significance: Malignant tumor of prostate | 132,755,930(-) |
G/T NM_004665.5(VNN2):c.450C>A (p.Asp150Glu) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1219e214 | CNV | loss | 21293372 |
esv2662373 | CNV | deletion | 23128226 |
esv3610841 | CNV | loss | 21293372 |
esv3610842 | CNV | gain | 21293372 |
esv3610843 | CNV | loss | 21293372 |
esv3610846 | CNV | gain | 21293372 |
esv3610847 | CNV | loss | 21293372 |
nsv517934 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
trichuriasis |
|
|
localized chondrosarcoma |
|
|
biotinidase deficiency |
|
|
pyruvate kinase deficiency of red cells |
|
|
congenital nonspherocytic hemolytic anemia |
|
|