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VASH2 vasohibin 2 [ Homo sapiens (human) ]

Gene ID: 79805, updated on 10-Mar-2024

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
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Genomic context

See VASH2 in Genome Data Viewer
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_000001.11Genomic 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
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

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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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_001136474.3NP_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:1226
    Vasohibin
  2. NM_001136475.3NP_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:1187
    Vasohibin
  3. NM_001301056.2NP_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:47291
    Vasohibin
  4. NM_024749.5NP_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:47247
    Vasohibin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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)