FABP4

fatty acid binding protein 4, the group of Fatty acid binding protein family

Basic information

Region (hg38): 8:81478418-81483236

Links

ENSG00000170323 ∙ NCBI:2167 ∙ OMIM:600434 ∙ HGNC:3559 ∙ Uniprot:P15090 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• schizophrenia (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FABP4 gene.

• not provided (3 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FABP4 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				1	1	2
missense			1			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	1	1	1

Variants in FABP4

This is a list of pathogenic ClinVar variants found in the FABP4 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-81478898-G-A			Benign (Dec 28, 2017)
8-81479438-T-C			Likely benign (Jul 04, 2018)
8-81479499-T-G		not specified	Uncertain significance (Oct 06, 2022)
8-81480473-G-C		not specified	Uncertain significance (Dec 08, 2023)
8-81480590-A-T		not specified	Uncertain significance (Dec 19, 2023)
8-81480601-A-G			Benign (Jul 17, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FABP4	protein_coding	protein_coding	ENST00000256104	4	4845

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000518	0.265	125620	0	62	125682	0.000247

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.571	58	71.6	0.810	0.00000346	876
Missense in Polyphen		11	17.186	0.64004		232
Synonymous	-0.128	26	25.2	1.03	0.00000133	238
Loss of Function	-0.338	6	5.17	1.16	2.17e-7	68

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000871	0.0000871
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000450	0.000449
Middle Eastern	0.00	0.00
South Asian	0.000198	0.000196
Other	0.000329	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Lipid transport protein in adipocytes. Binds both long chain fatty acids and retinoic acid. Delivers long-chain fatty acids and retinoic acid to their cognate receptors in the nucleus. {ECO:0000250|UniProtKB:P04117}.
• Pathway: Regulation of lipolysis in adipocytes - Homo sapiens (human);PPAR signaling pathway - Homo sapiens (human);Transcriptional regulation of white adipocyte differentiation;PPAR signaling pathway;Developmental Biology;Metabolism of lipids;Metabolism;Transcriptional regulation of white adipocyte differentiation;Triglyceride catabolism;Triglyceride metabolism;AP-1 transcription factor network (Consensus)

Recessive Scores

• pRec: 0.480

Intolerance Scores

• loftool: 0.650
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.33

Haploinsufficiency Scores

• pHI: 0.365
• hipred: N
• hipred_score: 0.270
• ghis: 0.448

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.950

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Fabp4
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); liver/biliary system phenotype; homeostasis/metabolism phenotype; cellular phenotype; muscle phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype

Gene ontology

• Biological process: cytokine production;negative regulation of protein kinase activity;response to bacterium;long-chain fatty acid transport;triglyceride catabolic process;cholesterol homeostasis;negative regulation of transcription, DNA-templated;positive regulation of inflammatory response;white fat cell differentiation;brown fat cell differentiation;cellular response to lithium ion;cellular response to tumor necrosis factor;positive regulation of cold-induced thermogenesis
• Cellular component: nucleus;cytoplasm;lipid droplet;cytosol;extracellular exosome
• Molecular function: long-chain fatty acid transporter activity;fatty acid binding;long-chain fatty acid binding;hormone receptor binding