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VASH2 vasohibin 2 [ Homo sapiens (human) ]

Gene ID: 79805, updated on 1-Jun-2020

Summary

Official Symbol
VASH2provided by HGNC
Official Full Name
vasohibin 2provided by HGNC
Primary source
HGNC:HGNC:25723
See related
Ensembl:ENSG00000143494 MIM:610471
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
Expression
Broad expression in testis (RPKM 1.7), esophagus (RPKM 1.3) and 20 other tissues See more
Orthologs

Genomic context

See VASH2 in Genome Data Viewer
Location:
1q32.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (212950541..212991585)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (213123887..213164986)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene FLVCR1 divergent transcript Neighboring gene FLVCR heme transporter 1 Neighboring gene Sharpr-MPRA regulatory region 306 Neighboring gene angel homolog 2 Neighboring gene CRISPRi-validated cis-regulatory element chr1.11646

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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12505

Gene Ontology Provided by GOA

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

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/Swiss-Prot
    Q86V25
    UniProtKB/TrEMBL
    A0A140VJZ5, A8K4K8
    Related
    ENSP00000355935.4, ENST00000366968.8
    Conserved Domains (1) summary
    pfam14822
    Location:1226
    Vasohibin; 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/Swiss-Prot
    Q86V25
    UniProtKB/TrEMBL
    A8K4K8
    Related
    ENSP00000429040.1, ENST00000366967.6
    Conserved Domains (1) summary
    pfam14822
    Location:1187
    Vasohibin; 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
    Q86V25
    UniProtKB/TrEMBL
    A8K4K8
    Related
    ENSP00000428324.1, ENST00000517399.2
    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; Vasohibin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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