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    ANGPTL6 angiopoietin like 6 [ Homo sapiens (human) ]

    Gene ID: 83854, updated on 6-Jun-2024

    Summary

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    Official Symbol
    ANGPTL6provided by HGNC
    Official Full Name
    angiopoietin like 6provided by HGNC
    Primary source
    HGNC:HGNC:23140
    See related
    Ensembl:ENSG00000130812 MIM:609336; AllianceGenome:HGNC:23140
    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
    AGF; ARP5
    Summary
    Predicted to enable signaling receptor binding activity. Predicted to be involved in angiogenesis and cell differentiation. Located in extracellular exosome. Part of collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in liver (RPKM 8.2), spleen (RPKM 5.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANGPTL6 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (10092338..10106190, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (10218556..10232399, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (10203014..10216866, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene microRNA 5589 Neighboring gene complement component 3 precursor pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr19:10185500-10185601 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10052 Neighboring gene shiftless antiviral inhibitor of ribosomal frameshifting Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10053 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10055 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13936 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13937 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:10216675-10217318 Neighboring gene PPAN-P2RY11 readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10218607-10219250 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10220162-10220743 Neighboring gene small nucleolar RNA, C/D box 105 Neighboring gene small nucleolar RNA, C/D box 105B Neighboring gene peter pan homolog

    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. ANGPTL6 Genetic Variants Are an Underlying Cause of Familial Intracranial Aneurysms. Hostettler IC, et al. Neurology, 2021 Feb 9. PMID 33106390, Free PMC Article
    2. ANGPTL6-mediated angiogenesis promotes alpha fetoprotein-producing gastric cancer progression. Chen E, et al. Pathol Res Pract, 2019 Aug. PMID 31146977
    3. Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm. Bourcier R, et al. Am J Hum Genet, 2018 Jan 4. PMID 29304371, Free PMC Article
    4. Correlation of long-term glycemic control as measured by glycated hemoglobin with serum angiopoietin-like 6 protein levels in type 2 diabetes mellitus patients. Sharma V, et al. Indian J Pharmacol, 2017 May-Jun. PMID 29033485, Free PMC Article
    5. Angiopoietin-related growth factor is independently associated with lower extremity peripheral arterial disease. Nie H, et al. J Diabetes Complications, 2017 Feb. PMID 27866700

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Differential Proteomic Profiles of Coronary Serum Exosomes in Acute Myocardial Infarction Patients with or Without Diabetes Mellitus: ANGPTL6 Accelerates Regeneration of Endothelial Cells Treated with Rapamycin via MAPK Pathways.
      Title: Differential Proteomic Profiles of Coronary Serum Exosomes in Acute Myocardial Infarction Patients with or Without Diabetes Mellitus: ANGPTL6 Accelerates Regeneration of Endothelial Cells Treated with Rapamycin via MAPK Pathways.
    2. Associations of ANGPTL6, DOCK6, FABP1, and PCSK9 single-nucleotide variants with hypercholesterolemia in the Polish population: a cross-sectional study.
      Title: Associations of ANGPTL6, DOCK6, FABP1, and PCSK9 single-nucleotide variants with hypercholesterolemia in the Polish population: a cross-sectional study.
    3. Relationship of ANGPTL6 With Neonatal Glucose Homeostasis and Fat Mass Is Disrupted in Gestational Diabetic Pregnancies.
      Title: Relationship of ANGPTL6 With Neonatal Glucose Homeostasis and Fat Mass Is Disrupted in Gestational Diabetic Pregnancies.
    4. Use of proteomics to identify mechanisms of hepatocellular carcinoma with the CYP2D6*10 polymorphism and identification of ANGPTL6 as a new diagnostic and prognostic biomarker.
      Title: Use of proteomics to identify mechanisms of hepatocellular carcinoma with the CYP2D6*10 polymorphism and identification of ANGPTL6 as a new diagnostic and prognostic biomarker.
    5. Angiopoietin-Like Growth Factor Involved in Leptin Signaling in the Hypothalamus.
      Title: Angiopoietin-Like Growth Factor Involved in Leptin Signaling in the Hypothalamus.
    6. ANGPTL6 Genetic Variants Are an Underlying Cause of Familial Intracranial Aneurysms.
      Title: ANGPTL6 Genetic Variants Are an Underlying Cause of Familial Intracranial Aneurysms.
    7. Investigating the Role of Myeloperoxidase and Angiopoietin-like Protein 6 in Obesity and Diabetes.
      Title: Investigating the Role of Myeloperoxidase and Angiopoietin-like Protein 6 in Obesity and Diabetes.
    8. ANGPTL6 is an important driver gene of angiogenesis in AFPGC development
      Title: ANGPTL6-mediated angiogenesis promotes alpha fetoprotein-producing gastric cancer progression.
    9. rare coding variants in ANGPTL6 are causally related to familial forms of Intracranial aneurysms.
      Title: Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm.
    10. Poor glycemic control in diabetes mellitus as reflected by higher serum HbA1c levels is associated with raised serum ANGPTL6 levels
      Title: Correlation of long-term glycemic control as measured by glycated hemoglobin with serum angiopoietin-like 6 protein levels in type 2 diabetes mellitus patients.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    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
    A genome-wide association study identifies protein quantitative trait loci (pQTLs).
    EBI GWAS Catalog
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African 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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in collagen-containing extracellular matrix HDA PubMed 
    is_active_in collagen-containing extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in secretory granule IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    angiopoietin-related protein 6
    Names
    angiopoietin-like protein 6
    angiopoietin-related growth factor
    angiopoietin-related protein 5

    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_001321411.2 → NP_001308340.1  angiopoietin-related protein 6 precursor

      Status: VALIDATED

      Source sequence(s)
      AC020931
      Consensus CDS
      CCDS12224.1
      UniProtKB/Swiss-Prot
      A5PKV7, Q8NI99, Q9BZZ0
      UniProtKB/TrEMBL
      K7EKF6
      Related
      ENSP00000467930.1, ENST00000592641.5
      Conserved Domains (1) summary
      cd00087
      Location:255 → 468
      FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...

    2. NM_001387347.1 → NP_001374276.1  angiopoietin-related protein 6 precursor

      Status: VALIDATED

      Source sequence(s)
      AC020931
      Consensus CDS
      CCDS12224.1
      UniProtKB/Swiss-Prot
      A5PKV7, Q8NI99, Q9BZZ0
      UniProtKB/TrEMBL
      K7EKF6
      Conserved Domains (1) summary
      cd00087
      Location:255 → 468
      FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...

    3. NM_001387348.1 → NP_001374277.1  angiopoietin-related protein 6 precursor

      Status: VALIDATED

      Source sequence(s)
      AC020931
      Consensus CDS
      CCDS12224.1
      UniProtKB/Swiss-Prot
      A5PKV7, Q8NI99, Q9BZZ0
      UniProtKB/TrEMBL
      K7EKF6
      Conserved Domains (1) summary
      cd00087
      Location:255 → 468
      FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...

    4. NM_031917.3 → NP_114123.2  angiopoietin-related protein 6 precursor

      See identical proteins and their annotated locations for NP_114123.2

      Status: VALIDATED

      Source sequence(s)
      AC020931
      Consensus CDS
      CCDS12224.1
      UniProtKB/Swiss-Prot
      A5PKV7, Q8NI99, Q9BZZ0
      UniProtKB/TrEMBL
      K7EKF6
      Related
      ENSP00000253109.3, ENST00000253109.5
      Conserved Domains (1) summary
      cd00087
      Location:255 → 468
      FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      10092338..10106190 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528349.4 → XP_011526651.1  angiopoietin-related protein 6 isoform X1

      See identical proteins and their annotated locations for XP_011526651.1

      UniProtKB/TrEMBL
      K7EKF6
      Conserved Domains (1) summary
      cd00087
      Location:322 → 535
      FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...

    2. XM_011528348.4 → XP_011526650.1  angiopoietin-related protein 6 isoform X1

      See identical proteins and their annotated locations for XP_011526650.1

      UniProtKB/TrEMBL
      K7EKF6
      Conserved Domains (1) summary
      cd00087
      Location:322 → 535
      FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      10218556..10232399 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322299.1 → XP_054178274.1  angiopoietin-related protein 6 isoform X1

      UniProtKB/TrEMBL
      K7EKF6

    2. XM_054322298.1 → XP_054178273.1  angiopoietin-related protein 6 isoform X1

      UniProtKB/TrEMBL
      K7EKF6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NI99.1 GenPept UniProtKB/Swiss-Prot:Q8NI99

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

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