VASH2 vasohibin 2 [Homo sapiens (human)] - Gene

Summary

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 cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
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

Location:: 1q32.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (212950541..212991585)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (212193644..212234694)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (213123883..213164927)

Chromosome 1 - NC_000001.11 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?

High Vasohibin-2 expression correlated with autophagy in proliferative diabetic retinopathy.
Title: High Vasohibin-2 expression correlated with autophagy in proliferative diabetic retinopathy.
A preliminary study on the mechanism of VASH2 in childhood medulloblastoma.
Title: A preliminary study on the mechanism of VASH2 in childhood medulloblastoma.
Pathological Study on the Expression of Vasohibins in Peripheral Artery Disease.
Title: Pathological Study on the Expression of Vasohibins in Peripheral Artery Disease.
[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].
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed

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

SHGC-76314 (e-PCR)
- UniSTS:2566

RH93064 (e-PCR)
- UniSTS:91938

NoName (e-PCR)
- UniSTS:481970

L17914 (e-PCR)
- UniSTS:43220

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

EC 3.4.17.17

NP_001129947.1

EC 3.4.17.17

NP_001287985.1

EC 3.4.17.17

NP_079025.2

EC 3.4.17.17

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_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
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
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
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