ANGPTL8

angiopoietin like 8, the group of Angiopoietin like family

Basic information

Region (hg38): 19:11237502-11241943

Previous symbols: [ "C19orf80" ]

Links

ENSG00000130173NCBI:55908OMIM:616223HGNC:24933Uniprot:Q6UXH0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ANGPTL8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANGPTL8 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
3
clinvar
3
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
1
1
non coding
4
clinvar
27
clinvar
39
clinvar
9
clinvar
79
Total 0 4 30 39 9

Variants in ANGPTL8

This is a list of pathogenic ClinVar variants found in the ANGPTL8 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
19-11237504-T-C Likely benign (Feb 10, 2022)1945238
19-11237506-G-C Uncertain significance (Jul 01, 2022)2012847
19-11237507-G-C Likely benign (Jul 03, 2023)754546
19-11237519-G-A DOCK6-related disorder Likely benign (Dec 20, 2021)3029472
19-11237522-G-A Likely benign (Nov 13, 2023)1984123
19-11237525-C-T Likely benign (Mar 24, 2023)2849190
19-11237532-C-T Benign (Jan 22, 2024)719828
19-11237533-G-A Inborn genetic diseases Uncertain significance (Jun 09, 2022)2223081
19-11237534-C-T Likely benign (Jan 24, 2023)753059
19-11237536-C-T DOCK6-related disorder Benign/Likely benign (Oct 16, 2023)719303
19-11237537-G-A Benign/Likely benign (Feb 01, 2024)714761
19-11237539-G-A Intellectual disability Likely benign (Jan 01, 2019)975218
19-11237541-T-C Uncertain significance (Jul 06, 2022)1921185
19-11237542-G-A Adams-Oliver syndrome 2 Likely pathogenic (Aug 04, 2020)1028688
19-11237559-T-C Likely pathogenic (Jun 05, 2020)1187972
19-11237572-G-A Likely benign (Jan 19, 2023)2961162
19-11237622-G-A Benign (Aug 14, 2023)1989976
19-11237626-G-A Likely benign (Aug 09, 2022)1927412
19-11237632-A-G Likely benign (Nov 16, 2023)3003301
19-11237633-C-T Likely benign (Dec 27, 2023)750736
19-11237640-C-A Likely pathogenic (Jan 21, 2024)2703783
19-11237653-G-A Benign/Likely benign (Jan 16, 2024)785608
19-11237674-C-T Benign (Jan 21, 2024)729644
19-11237675-G-A Uncertain significance (May 20, 2022)593197
19-11237678-C-T Uncertain significance (Feb 17, 2022)2176341

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ANGPTL8protein_codingprotein_codingENST00000252453 44442
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
6.88e-120.005041245020211245230.0000843
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.04881200.7330.000007841213
Missense in Polyphen1728.2650.60146353
Synonymous1.503851.70.7340.00000312433
Loss of Function-1.66148.701.614.42e-788

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.0003760.000334
Finnish0.000.00
European (Non-Finnish)0.00001950.0000177
Middle Eastern0.0003760.000334
South Asian0.0004000.000360
Other0.0003670.000331

dbNSFP

Source: dbNSFP

Function
FUNCTION: Hormone that acts as a blood lipid regulator by regulating serum triglyceride levels (PubMed:22569073, PubMed:22809513, PubMed:23150577). May be involved in the metabolic transition between fasting and refeeding: required to direct fatty acids to adipose tissue for storage in the fed state (By similarity). {ECO:0000250|UniProtKB:Q8R1L8, ECO:0000269|PubMed:22569073, ECO:0000269|PubMed:22809513, ECO:0000269|PubMed:23150577}.;
Disease
DISEASE: Diabetes mellitus, insulin-dependent (IDDM) [MIM:222100]: A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000305|PubMed:24078058}. Note=The gene represented in this entry may be involved in disease pathogenesis. Increased protein levels are observed in the serum of patients. This result should however be reinvestigated in light of recent advances that suggest that this protein is not promoting pancreatic beta cell proliferation. {ECO:0000305|PubMed:24078058}.; DISEASE: Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000305|PubMed:24852694, ECO:0000305|PubMed:24963292, ECO:0000305|PubMed:25024395, ECO:0000305|PubMed:25303484}. Note=The gene represented in this entry may be involved in disease pathogenesis. Increased protein levels are observed in the serum of patients and are associated with insulin resistance (PubMed:25024395, PubMed:25303484, PubMed:24963292, PubMed:24852694). According to another report, protein levels are decreased in the serum of patients (PubMed:25050901). Discrepancies between increased and decreased levels of proteins levels in NIDDM patients may be explained by the use of different kits developed on the market that either use antibodies recognizing the N-terminal or the C-terminal part of the protein (PubMed:25099942). These results should however be reinvestigated in light of recent advances that suggest that this protein is not promoting pancreatic beta cell proliferation. {ECO:0000305|PubMed:24852694, ECO:0000305|PubMed:24963292, ECO:0000305|PubMed:25024395, ECO:0000305|PubMed:25050901, ECO:0000305|PubMed:25099942, ECO:0000305|PubMed:25303484}.;
Pathway
Cholesterol metabolism - Homo sapiens (human);Angiopoietin Like Protein 8 Regulatory Pathway;Transport of small molecules;Assembly of active LPL and LIPC lipase complexes;Plasma lipoprotein assembly, remodeling, and clearance;Plasma lipoprotein remodeling (Consensus)

Intolerance Scores

loftool
rvis_EVS
0.66
rvis_percentile_EVS
84.35

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.123
ghis
0.396

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
gene_indispensability_score

Mouse Genome Informatics

Gene name
Angptl8
Phenotype
growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype;

Gene ontology

Biological process
regulation of signaling receptor activity;positive regulation of protein processing;regulation of lipid metabolic process;cellular lipid metabolic process;type B pancreatic cell proliferation;fat cell differentiation;cell maturation;regulation of lipoprotein metabolic process;regulation of lipoprotein lipase activity;triglyceride homeostasis
Cellular component
extracellular region
Molecular function
hormone activity;protein binding