FABP3

fatty acid binding protein 3, the group of Fatty acid binding protein family

Basic information

Region (hg38): 1:31365252-31376850

Previous symbols: [ "MDGI", "FABP11" ]

Links

ENSG00000121769 ∙ NCBI:2170 ∙ OMIM:134651 ∙ HGNC:3557 ∙ Uniprot:P05413 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FABP3 gene.

• not provided (9 variants)
• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FABP3 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			2	2		4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	3	1

Variants in FABP3

This is a list of pathogenic ClinVar variants found in the FABP3 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-31365892-CT-C			not provided (-)
1-31365893-T-G		not specified	Uncertain significance (Oct 02, 2023)
1-31365928-G-A			Likely benign (Dec 31, 2019)
1-31365951-GAC-G			not provided (-)
1-31365958-T-C			not provided (-)
1-31367444-G-A			Benign (Jul 06, 2018)
1-31369359-TC-T			not provided (-)
1-31369367-CCT-C			not provided (-)
1-31369444-T-C		not specified	Uncertain significance (Aug 14, 2023)
1-31369473-T-A			Likely benign (Dec 11, 2018)
1-31372980-A-T		not specified	Uncertain significance (Jul 05, 2023)
1-31373007-T-C			Likely benign (Jan 05, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FABP3	protein_coding	protein_coding	ENST00000373713	4	11226

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.443	0.530	125661	0	87	125748	0.000346

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.422	65	75.3	0.863	0.00000388	872
Missense in Polyphen		12	22.792	0.52649		303
Synonymous	0.467	26	29.2	0.890	0.00000167	254
Loss of Function	1.77	1	5.48	0.182	2.32e-7	66

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00231	0.00231
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000264	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: FABP are thought to play a role in the intracellular transport of long-chain fatty acids and their acyl-CoA esters.
• Pathway: PPAR signaling pathway - Homo sapiens (human);PPAR signaling pathway;Metabolism of lipids;Metabolism;Triglyceride catabolism;Triglyceride metabolism (Consensus)

Intolerance Scores

• loftool: 0.746
• rvis_EVS: 0.19
• rvis_percentile_EVS: 66.57

Haploinsufficiency Scores

• pHI: 0.187
• hipred: N
• hipred_score: 0.289
• ghis: 0.442

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.988

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fabp3
• Phenotype: vision/eye phenotype; liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); muscle phenotype; homeostasis/metabolism phenotype; cellular phenotype

Zebrafish Information Network

• Gene name: fabp3
• Affected structure: head
• Phenotype tag: abnormal
• Phenotype quality: malformed

Gene ontology

• Biological process: fatty acid metabolic process;negative regulation of cell population proliferation;triglyceride catabolic process;response to insulin;response to drug;cholesterol homeostasis;long-chain fatty acid import;regulation of fatty acid oxidation;phospholipid homeostasis;response to fatty acid;positive regulation of phospholipid biosynthetic process;regulation of phosphatidylcholine biosynthetic process
• Cellular component: extracellular space;cytosol;sarcoplasm;extracellular exosome
• Molecular function: long-chain fatty acid transporter activity;protein binding;cytoskeletal protein binding;long-chain fatty acid binding;icosatetraenoic acid binding;oleic acid binding