FABP5

fatty acid binding protein 5, the group of Fatty acid binding protein family

Basic information

Region (hg38): 8:81280536-81284777

Links

ENSG00000164687 ∙ NCBI:2171 ∙ OMIM:605168 ∙ HGNC:3560 ∙ Uniprot:Q01469 ∙ 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 FABP5 gene.

• not_specified (17 variants)
• not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FABP5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001444.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			2			2
missense			18		1	19
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	20	0	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FABP5	protein_coding	protein_coding	ENST00000297258	4	4415

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0470	0.864	125716	0	14	125730	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.138	69	65.9	1.05	0.00000300	880
Missense in Polyphen		16	16.096	0.99403		247
Synonymous	1.07	16	22.4	0.713	0.00000105	239
Loss of Function	1.40	3	7.00	0.429	3.68e-7	88

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000933	0.0000905
Ashkenazi Jewish	0.000399	0.000397
East Asian	0.00	0.00
Finnish	0.0000465	0.0000462
European (Non-Finnish)	0.0000540	0.0000528
Middle Eastern	0.00	0.00
South Asian	0.0000373	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Intracellular carrier for long-chain fatty acids and related active lipids, such as the endocannabinoid, that regulates the metabolism and actions of the ligands they bind. In addition to the cytosolic transport, selectively delivers specific fatty acids from the cytosol to the nucleus, wherein they activate nuclear receptors (PubMed:22170058). Delivers retinoic acid to the nuclear receptor peroxisome proliferator-activated receptor delta; which promotes proliferation and survival. May also serve as a synaptic carrier of endocannabinoid at central synapses and thus controls retrograde endocannabinoid signaling. Modulates inflammation by regulating PTGES induction via NF-kappa-B activation, and prostaglandin E2 (PGE2) biosynthesis during inflammation (By similarity). May be involved in keratinocyte differentiation (PubMed:8092987). {ECO:0000250|UniProtKB:Q05816, ECO:0000269|PubMed:22170058, ECO:0000269|PubMed:8092987}.
• Pathway: PPAR signaling pathway - Homo sapiens (human);PPAR signaling pathway;Neutrophil degranulation;Signal Transduction;Metabolism of lipids;Innate Immune System;Immune System;Metabolism;Triglyceride catabolism;Triglyceride metabolism;Signaling by Retinoic Acid;Signaling by Nuclear Receptors (Consensus)

Recessive Scores

• pRec: 0.132

Intolerance Scores

• loftool: 0.795
• rvis_EVS: 0.24
• rvis_percentile_EVS: 68.72

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.177
• ghis: 0.452

Essentials

• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.801

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fabp5
• Phenotype: liver/biliary system phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; 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); muscle phenotype; cellular phenotype; homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan)

Gene ontology

• Biological process: glucose metabolic process;lipid metabolic process;phosphatidylcholine biosynthetic process;epidermis development;negative regulation of glucose transmembrane transport;triglyceride catabolic process;regulation of prostaglandin biosynthetic process;positive regulation of peroxisome proliferator activated receptor signaling pathway;glucose homeostasis;neutrophil degranulation;regulation of sensory perception of pain;regulation of retrograde trans-synaptic signaling by endocanabinoid;positive regulation of cold-induced thermogenesis
• Cellular component: extracellular region;nucleus;nucleoplasm;cytoplasm;cytosol;plasma membrane;postsynaptic density;cell junction;secretory granule membrane;azurophil granule lumen;synapse;postsynaptic membrane;extracellular exosome
• Molecular function: retinoic acid binding;fatty acid binding;protein binding;lipid binding;identical protein binding