FABP6

protein-coding

fatty acid binding protein 6, the group of Fatty acid binding protein family

Gene summary

This gene encodes the ileal fatty acid binding protein. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABP6 and FABP1 (the liver fatty acid binding protein) are also able to bind bile acids. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. Transcript variants generated by alternate transcription promoters and/or alternate splicing have been found for this gene. [provided by RefSeq, Jul 2008]

MANE transcript

NM_001445.3

Inheritance

—

ClinVar variants

U:28B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.97

Max pathogenic AF

—

Genomic locus

chr5:160,187,367-160,238,735

External References & Databases

Ensembl (ENSG00000170231)

Transcript & Mutation Effects

hg38 • Region Span ~51.4 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 FABP6 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 25

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001445.3. 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
missense			26 clinvar		1 clinvar	27
nonsense						0
start loss			1 clinvar			1
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	28	0	2	30

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 35 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001445.3	RefSeq	NP_001436.1	4	MANE Select
ENST00000402432.4	Ensembl	ENSP00000385433.4	4	MANE Select
NM_001040442.1	RefSeq	NP_001035532.1	6	Standard
NM_001130958.2	RefSeq	NP_001124430.1	6	Standard

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
Recycling of bile acids and salts

Biological Process

lipid metabolic process
lipid transport
negative regulation of cell population proliferation
triglyceride catabolic process

Molecular Function

lipid binding
bile acid binding

Cellular Component

cytoplasm
cytosol
membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000393980
Coding exons: 6
Length: 51369
Individuals with no LoFs: 125735
Homozygous LoFs: 0
Heterozygous LoFs: 12
Defined: 125747
p: 0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.495	93	107	0.866	0.00000626	1177
Missense (PolyPhen)		25	32.914	0.75956		369
Synonymous	-1.74	58	43.4	1.34	0.00000310	309
Loss of Function	0.0774	9	9.25	0.973	3.92e-7	112

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00018	0.00017	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00012	0.00011	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.0000088	0.0000088	rare
South Asian	0.000065	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Binds to bile acids and is involved in enterohepatic bile acid metabolism. Required for efficient apical to basolateral transport of conjugated bile acids in ileal enterocytes (By similarity). In vitro binds to bile acids in the order: deoxycholic acid > cholic acid > chenodeoxycholic acid and respective BA conjugation modifies affinities in the order taurine-conjugated > glycine-conjugated > unconjugated bile acids. Stimulates gastric acid and pepsinogen secretion (By similarity). {ECO:0000250|UniProtKB:P10289, ECO:0000250|UniProtKB:P51162, ECO:0000269|PubMed:12486725, ECO:0000269|PubMed:7588781}.;

Recessive Scores

pRec: 0.165

Intolerance Scores

LoFtool: 0.845
RVIS EVS: 0.04
RVIS percentile EVS: 56.92

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.232

Gene Damage Prediction

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