FABP6

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

Basic information

Region (hg38): 5:160187367-160238735

Links

ENSG00000170231

∙ NCBI:2172 ∙ OMIM:600422 ∙ HGNC:3561 ∙ Uniprot:P51161 ∙ 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 FABP6 gene.

not_specified (22 variants)
not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FABP6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001445.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous					1 clinvar	1
missense			21 clinvar		1 clinvar	22
nonsense						0
start loss			1			1
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	22	0	2

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FABP6	protein_coding	protein_coding	ENST00000393980	6	51369

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000155	0.243	125735	0	12	125747	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.495	93	107	0.866	0.00000626	1177
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000175	0.000175
Ashkenazi Jewish	0.00	0.00
East Asian	0.000120	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.00000882	0.00000879
Middle Eastern	0.000120	0.000109
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

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}.;
Pathway: PPAR signaling pathway - Homo sapiens (human);PPAR signaling pathway;Metabolism of lipids;Metabolism;Recycling of bile acids and salts;Bile acid and bile salt metabolism;Metabolism of steroids;Triglyceride catabolism;Triglyceride metabolism (Consensus)

Recessive Scores

pRec: 0.165

Intolerance Scores

loftool: 0.845
rvis_EVS: 0.04
rvis_percentile_EVS: 56.92

Haploinsufficiency Scores

pHI: 0.154
hipred: N
hipred_score: 0.146
ghis: 0.524

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.232

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Fabp6
Phenotype: homeostasis/metabolism phenotype; liver/biliary system phenotype;

Gene ontology

Biological process: lipid metabolic process;lipid transport;negative regulation of cell population proliferation;triglyceride catabolic process
Cellular component: cytoplasm;cytosol;membrane
Molecular function: lipid binding;bile acid binding