FABP4

protein-coding

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

Gene summary

FABP4 encodes the fatty acid binding protein found in adipocytes. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. [provided by RefSeq, Jul 2008]

MANE transcript

NM_001442.3

Inheritance

—

ClinVar variants

U:9B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.16

Max pathogenic AF

—

Genomic locus

chr8:81,478,419-81,483,236

External References & Databases

Ensembl (ENSG00000170323)

Transcript & Mutation Effects

hg38 • Region Span ~4.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

schizophreniaNO_KNOWN

Inheritance Pattern: Unknown

Disease ID:MONDO:0005090

Submitter: Labcorp Genetics (formerly Invitae)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FABP4 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 9

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001442.3. 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			8 clinvar	1 clinvar		9
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	9	2	1	12

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 19 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001442.3	RefSeq	NP_001433.1	4	MANE Select
ENST00000256104.5	Ensembl	ENSP00000256104.4	4	MANE Select
ENST00000522659.1	Ensembl	ENSP00000428385.1	2	Standard
ENST00000956908.1	Ensembl	ENSP00000626967.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

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

Biological Process

cytokine production
negative regulation of protein kinase activity
response to bacterium
long-chain fatty acid transport
triglyceride catabolic process

Molecular Function

long-chain fatty acid transporter activity
fatty acid binding
long-chain fatty acid binding
hormone receptor binding

Cellular Component

nucleus
cytoplasm
lipid droplet
cytosol
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000256104
Coding exons: 4
Length: 4845
Individuals with no LoFs: 125620
Homozygous LoFs: 0
Heterozygous LoFs: 62
Defined: 125682
p: 0.000247

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.571	58	71.6	0.810	0.00000346	876
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.00045	0.00045	rare
South Asian	0.00020	0.00020	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.480

Intolerance Scores

LoFtool: 0.650
RVIS EVS: 0.17
RVIS percentile EVS: 65.33

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.950

Gene Damage Prediction

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