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ANGPTL6 angiopoietin like 6 [ Homo sapiens (human) ]

Gene ID: 83854, updated on 3-Apr-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
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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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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

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

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

Gene LinkOut

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

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