VASN vasorin [Homo sapiens (human)] - Gene

Summary

Official Symbol: VASNprovided by HGNC
Official Full Name: vasorinprovided by HGNC
Primary source: HGNC:HGNC:18517
See related: Ensembl:ENSG00000168140 MIM:608843
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SLITL2
Expression: Broad expression in placenta (RPKM 16.9), kidney (RPKM 16.4) and 24 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 16p13.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
109.20191205	current	GRCh38.p13 (GCF_000001405.39)	16	NC_000016.10 (4371848..4383538)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (4421849..4433529)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

VASN stimulates tumor progression and angiogenesis.
Title: Vasorin stimulates malignant progression and angiogenesis in glioma.
Expression levels of ST3Gal1 and TGFB1 were high in breast cancer tumors samples and positively correlated with each other. Shorter relapse-free survival associated with lower expression of VASN and combination of low VASN with high ST3GAL1 yielded even higher risk of recurrence. Findings illustrated a feedback regulatory loop in which TGF-beta1 upregulates ST3Gal1 to circumvent the negative impact of VASN.
Title: Sialylation of vasorin by ST3Gal1 facilitates TGF-β1-mediated tumor angiogenesis and progression.
Vasorin acts as a switch to augment Notch signaling under hypoxic conditions.
Title: Hypoxic Induction of Vasorin Regulates Notch1 Turnover to Maintain Glioma Stem-like Cells.
confirmed for the first time that HepG2-derived VASN can be transferred to human umbilical vein endothelial cells (HUVECs) via receptor mediated endocytosis of exosomes, at least in part through HSPGs
Title: Exosomal transfer of vasorin expressed in hepatocellular carcinoma cells promotes migration of human umbilical vein endothelial cells.
results suggest that down-regulation of vasorin expression contributes to neointimal formation after vascular injury and that vasorin modulates cellular responses to pathological stimuli in the vessel wall [vasorin]
Title: Vasorin, a transforming growth factor beta-binding protein expressed in vascular smooth muscle cells, modulates the arterial response to injury in vivo.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

Homologs of the VASN gene: The VASN gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 249 organisms have orthologs with human gene VASN
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
cadherin binding	HDA more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
transforming growth factor beta binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
transforming growth factor beta binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
cellular response to hypoxia	IEA Inferred from Electronic Annotation more info
cellular response to redox state	IEA Inferred from Electronic Annotation more info
negative regulation of epithelial to mesenchymal transition	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of transforming growth factor beta receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
negative regulation of transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
negative regulation of transforming growth factor beta receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
cell surface	IDA Inferred from Direct Assay more info	PubMed
extracellular exosome	HDA more info	PubMed
extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info	PubMed
extracellular space	IBA Inferred from Biological aspect of Ancestor more info	PubMed
extracellular space	IDA Inferred from Direct Assay more info	PubMed
integral component of membrane	IEA Inferred from Electronic Annotation more info
lysosomal membrane	HDA more info	PubMed
mitochondrion	IEA Inferred from Electronic Annotation more info
plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: vasorin

Names: protein slit-like 2; slit-like 2

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_138440.3 → NP_612449.2 vasorin precursor

See identical proteins and their annotated locations for NP_612449.2

Status: VALIDATED

Source sequence(s)

AC012676, BC013767, BC068575

Consensus CDS

CCDS10514.1

UniProtKB/Swiss-Prot

Q6EMK4

Related

ENSP00000306864.3, ENST00000304735.4

Conserved Domains (7) summary

smart00013
Location:23 → 54

LRRNT; Leucine rich repeat N-terminal domain

smart00082
Location:298 → 349

LRRCT; Leucine rich repeat C-terminal domain

sd00033
Location:34 → 56

LRR_RI; leucine-rich repeat [structural motif]

pfam00008
Location:409 → 440

EGF; EGF-like domain

pfam00041
Location:466 → 535

fn3; Fibronectin type III domain

pfam12799
Location:76 → 117

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:101 → 158

LRR_8; Leucine rich repeat