ANGPTL6 angiopoietin like 6 [Homo sapiens (human)] - Gene

Summary

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 collagen-containing extracellular matrix and extracellular exosome. Biomarker of gestational diabetes. [provided by Alliance of Genome Resources, Oct 2024]
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

Location:: 19p13.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (10092338..10106190, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (10218556..10232399, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (10203014..10216866, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

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.
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.
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.
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.
Angiopoietin-Like Growth Factor Involved in Leptin Signaling in the Hypothalamus.
Title: Angiopoietin-Like Growth Factor Involved in Leptin Signaling in the Hypothalamus.
ANGPTL6 Genetic Variants Are an Underlying Cause of Familial Intracranial Aneurysms.
Title: ANGPTL6 Genetic Variants Are an Underlying Cause of Familial Intracranial Aneurysms.
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.
ANGPTL6 is an important driver gene of angiogenesis in AFPGC development
Title: ANGPTL6-mediated angiogenesis promotes alpha fetoprotein-producing gastric cancer progression.
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.
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 EBI GWAS CatalogPubMed
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African 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

NoName (e-PCR)
- UniSTS:483670

NoName (e-PCR)
- UniSTS:480600

ANGPTL6__4301 (e-PCR)
- UniSTS:463233

D19S1125 (e-PCR)
- UniSTS:14740

RH11710 (e-PCR)
- UniSTS:4066

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 more info	PubMed
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	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)

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 ...
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 ...
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 ...
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

10092338..10106190 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
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 ...