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    VASH2 vasohibin 2 [ Homo sapiens (human) ]

    Gene ID: 79805, updated on 27-Nov-2024

    Summary

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    Official Symbol
    VASH2provided by HGNC
    Official Full Name
    vasohibin 2provided by HGNC
    Primary source
    HGNC:HGNC:25723
    See related
    Ensembl:ENSG00000143494 MIM:610471; AllianceGenome:HGNC:25723
    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
    Summary
    Enables actin binding activity; metallocarboxypeptidase activity; and microtubule binding activity. Involved in axon development and proteolysis. Acts upstream of or within cell-cell fusion; positive regulation of angiogenesis; and positive regulation of endothelial cell proliferation. Located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 1.7), esophagus (RPKM 1.3) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See VASH2 in Genome Data Viewer
    Location:
    1q32.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (212950541..212991585)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (212193644..212234694)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (213123883..213164927)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1806 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1807 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:213036285-213036786 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:213036787-213037286 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213081521-213082376 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213082377-213083234 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213083235-213084090 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:213087077-213087678 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:213087679-213088279 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213088280-213088881 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213090085-213090684 Neighboring gene uncharacterized LOC124904507 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:213093647-213094446 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213101650-213102592 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213102593-213103534 Neighboring gene MPRA-validated peak689 silencer Neighboring gene FLVCR choline and heme transporter 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2521 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2522 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213131647-213132304 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213132964-213133621 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:213133682-213134182 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213141040-213141685 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2524 Neighboring gene Sharpr-MPRA regulatory region 1741 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2526 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213188046-213188634 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213188635-213189222 Neighboring gene CRISPRi-validated cis-regulatory element chr1.11646 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1809 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:213231113-213231272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2528 Neighboring gene angel homolog 2 Neighboring gene ribosomal protein S6 kinase C1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:213325631-213326306 Neighboring gene NANOG hESC enhancer GRCh37_chr1:213349583-213350260 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:213393895-213394085 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:213404976-213405900 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2529 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:213454938-213455452 Neighboring gene VISTA enhancer hs1324 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213545088-213545614 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213545615-213546139 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:213572574-213573110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:213573111-213573646 Neighboring gene MPRA-validated peak692 silencer Neighboring gene VISTA enhancer hs204 Neighboring gene ribosomal protein L31 pseudogene 13

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. A preliminary study on the mechanism of VASH2 in childhood medulloblastoma. Liu W, et al. Sci Rep, 2023 Oct 11. PMID 37821528, Free PMC Article
    2. Generation and characterization of rabbit polyclonal antibodies against Vasohibin-2 for determination of its intracellular localization. Sun J, et al. Int J Oncol, 2013 Jul. PMID 23615928
    3. Expression of vasohibin-2 in pancreatic ductal adenocarcinoma promotes tumor progression and is associated with a poor clinical outcome. Kim JC, et al. Hepatogastroenterology, 2015 Mar-Apr. PMID 25916042
    4. Nuclear vasohibin-2 promotes cell proliferation by inducing G0/G1 to S phase progression. Ge Q, et al. Oncol Rep, 2015 Sep. PMID 26177649
    5. Vasohibin-2 is required for epithelial-mesenchymal transition of ovarian cancer cells by modulating transforming growth factor-β signaling. Norita R, et al. Cancer Sci, 2017 Mar. PMID 28064471, Free PMC Article

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. High Vasohibin-2 expression correlated with autophagy in proliferative diabetic retinopathy.
      Title: High Vasohibin-2 expression correlated with autophagy in proliferative diabetic retinopathy.
    2. A preliminary study on the mechanism of VASH2 in childhood medulloblastoma.
      Title: A preliminary study on the mechanism of VASH2 in childhood medulloblastoma.
    3. Pathological Study on the Expression of Vasohibins in Peripheral Artery Disease.
      Title: Pathological Study on the Expression of Vasohibins in Peripheral Artery Disease.
    4. [Vasohibin-2 promotes proliferation and metastasis of cervical cancer cells by regulating epithelial-mesenchymal transition].
      Title: [Vasohibin-2 promotes proliferation and metastasis of cervical cancer cells by regulating epithelial-mesenchymal transition].
    5. Vasohibin-1 and -2 in pulmonary lymphangioleiomyomatosis (LAM) cells associated with angiogenic and prognostic factors.
      Title: Vasohibin-1 and -2 in pulmonary lymphangioleiomyomatosis (LAM) cells associated with angiogenic and prognostic factors.
    6. Prognostic significance of vasohibin-1 and vasohibin-2 immunohistochemical expression in gastric cancer.
      Title: Prognostic significance of vasohibin-1 and vasohibin-2 immunohistochemical expression in gastric cancer.
    7. VASH2 Promotes Cell Proliferation and Resistance to Doxorubicin in Non-Small Cell Lung Cancer via AKT Signaling.
      Title: VASH2 Promotes Cell Proliferation and Resistance to Doxorubicin in Non-Small Cell Lung Cancer via AKT Signaling.
    8. This study examined the crystal structures of human vasohibin 1 and 2 in complex with small vasohibin-binding protein (SVBP) in the absence and presence of different inhibitors and a C-terminal alpha-tubulin peptide.
      Title: Structural basis of tubulin detyrosination by the vasohibin-SVBP enzyme complex.
    9. Study demonstrates that VASH2 promotes malignant behaviors of pancreatic cancer cells by inducing EMT via activation of the Hedgehog signaling pathway.
      Title: Vasohibin 2 promotes malignant behaviors of pancreatic cancer cells by inducing epithelial-mesenchymal transition via Hedgehog signaling pathway.
    10. VASH2 promotes tumor angiogenesis as a result of paracrine activity and evasion of tumor immunity as a result of altered gene expression in pancreatic ductal adenocarcinoma cells.
      Title: Vasohibin-2 plays an essential role in metastasis of pancreatic ductal adenocarcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (29)

    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

    EBI GWAS Catalog

    Description
    Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
    EBI GWAS Catalog

    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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    Markers

    Homology

    Clone Names

    • FLJ12505

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metallocarboxypeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metallocarboxypeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables tubulin-tyrosine carboxypeptidase IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in axon development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cell-cell fusion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within cell-cell fusion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in labyrinthine layer blood vessel development IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within positive regulation of angiogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of endothelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteolysis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of angiogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in syncytium formation by plasma membrane fusion IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    tubulinyl-Tyr carboxypeptidase 2
    Names
    testicular tissue protein Li 222
    vasohibin-like protein
    NP_001129946.1
    NP_001129947.1
    NP_001287985.1
    NP_079025.2

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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)

    1. NM_001136474.3 → NP_001129946.1  tubulinyl-Tyr carboxypeptidase 2 isoform 2

      See identical proteins and their annotated locations for NP_001129946.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains multiple differences, compared to variant 1, including initiation of translation from a downstream in-frame start codon. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK022567, AK290973, AL592449
      Consensus CDS
      CCDS44315.1
      UniProtKB/TrEMBL
      A0A140VJZ5, A8K4K8
      Related
      ENSP00000355935.4, ENST00000366968.8
      Conserved Domains (1) summary
      pfam14822
      Location:1 → 226
      Vasohibin

    2. NM_001136475.3 → NP_001129947.1  tubulinyl-Tyr carboxypeptidase 2 isoform 3

      See identical proteins and their annotated locations for NP_001129947.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains multiple differences, compared to variant 1, including initiation of translation from a downstream in-frame start codon. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK290973, AK302675, AL592449
      Consensus CDS
      CCDS44316.1
      UniProtKB/TrEMBL
      A8K4K8
      Related
      ENSP00000429040.1, ENST00000366967.6
      Conserved Domains (1) summary
      pfam14822
      Location:1 → 187
      Vasohibin

    3. NM_001301056.2 → NP_001287985.1  tubulinyl-Tyr carboxypeptidase 2 isoform 4

      See identical proteins and their annotated locations for NP_001287985.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains two alternate in-frame exons, compared to variant 1. The encoded isoform (4) is longer than isoform 1.
      Source sequence(s)
      AK290973, AL592449, AY834202, CB960087
      Consensus CDS
      CCDS73026.1
      UniProtKB/Swiss-Prot
      B4DYZ5, Q2VT46, Q5VTE7, Q5VTE9, Q7Z6E3, Q86V25, Q8IZ24, Q9H9W5
      UniProtKB/TrEMBL
      A8K4K8
      Related
      ENSP00000428324.1, ENST00000517399.3
      Conserved Domains (1) summary
      pfam14822
      Location:47 → 291
      Vasohibin

    4. NM_024749.5 → NP_079025.2  tubulinyl-Tyr carboxypeptidase 2 isoform 1

      See identical proteins and their annotated locations for NP_079025.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AK290973, AL592449, BC051856
      Consensus CDS
      CCDS1511.1
      UniProtKB/Swiss-Prot
      Q86V25
      UniProtKB/TrEMBL
      A8K4K8
      Related
      ENSP00000355932.2, ENST00000366965.6
      Conserved Domains (1) summary
      pfam14822
      Location:47 → 247
      Vasohibin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      212950541..212991585
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      212193644..212234694
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86V25.2 GenPept UniProtKB/Swiss-Prot:Q86V25

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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