FABP3

protein-coding

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

Gene summary

The intracellular fatty acid-binding proteins (FABPs) belongs to a multigene family. FABPs are divided into at least three distinct types, namely the hepatic-, intestinal- and cardiac-type. They form 14-15 kDa proteins and are thought to participate in the uptake, intracellular metabolism and/or transport of long-chain fatty acids. They may also be responsible in the modulation of cell growth and proliferation. Fatty acid-binding protein 3 gene contains four exons and its function is to arrest growth of mammary epithelial cells. This gene is a candidate tumor suppressor gene for human breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

Previous symbols:

MDGI
FABP11

MANE transcript

NM_004102.5

Inheritance

—

ClinVar variants

U:20B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.18

Max pathogenic AF

—

Genomic locus

chr1:31,365,253-31,376,850

External References & Databases

Ensembl (ENSG00000121769)

Transcript & Mutation Effects

hg38 • Region Span ~11.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FABP3 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 20

not providedTotal: 9

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_004102.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar	1 clinvar	2
missense			18 clinvar	4 clinvar		22
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	20	5	1	26

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 52 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_004102.5	RefSeq	NP_004093.1	4	MANE Select
ENST00000373713.7	Ensembl	ENSP00000362817.2	4	MANE Select
NM_001320996.2	RefSeq	NP_001307925.1	4	Standard
ENST00000482018.1	Ensembl	ENSP00000473982.1	4	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
fabp3	Danio rerio	Structure: head Quality: malformed abnormal

Gene / Model

Organism

Observed Phenotype

fabp3

Danio rerio

Structure: head

Quality: malformed

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

PPAR signaling pathway - Homo sapiens (human)
PPAR signaling pathway
Metabolism of lipids
Metabolism
Triglyceride catabolism

Biological Process

fatty acid metabolic process
negative regulation of cell population proliferation
triglyceride catabolic process
response to insulin
response to drug

Molecular Function

long-chain fatty acid transporter activity
protein binding
cytoskeletal protein binding
long-chain fatty acid binding
icosatetraenoic acid binding

Cellular Component

extracellular space
cytosol
sarcoplasm
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000373713
Coding exons: 4
Length: 11226
Individuals with no LoFs: 125661
Homozygous LoFs: 0
Heterozygous LoFs: 87
Defined: 125748
p: 0.000346

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.422	65	75.3	0.863	0.00000388	872
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.0023	0.0023	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000026	0.000026	rare
South Asian	0.00013	0.00013	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

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.;

Intolerance Scores

LoFtool: 0.746
RVIS EVS: 0.19
RVIS percentile EVS: 66.57

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.988

Gene Damage Prediction

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