FABP5fatty acid binding protein 5 (psoriasis-associated)
Autism Reports / Total Reports
4 / 8Rare Variants / Common Variants
5 / 0Aliases
FABP5, EFABP, E-FABP, PAFABP, PA-FABP, FABP5Associated Syndromes
-Chromosome Band
8q21.13Associated Disorders
SCZRelevance to Autism
Some rare and some common variants in the FABP5 gene were found in autistic patients. However, none were found to have significant genetic association with autism (Maekawa et al., 2010).
Molecular Function
The encoded protein binds long-chain fatty acids and other hydrophobic ligands
External Links
SFARI Genomic Platforms
Reports related to FABP5 (8 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Highly Cited | The mammalian fatty acid-binding protein multigene family: molecular and genetic insights into function | Hertzel AV and Bernlohr DA (2000) | No | - |
2 | Highly Cited | Molecular cloning and expression of a novel keratinocyte protein (psoriasis-associated fatty acid-binding protein [PA-FABP]) that is highly up-regulated in psoriatic skin and that shares similarity to fatty acid-binding proteins | Madsen P , et al. (1992) | No | - |
3 | Recent Recommendation | Identification of intracellular carriers for the endocannabinoid anandamide | Kaczocha M , et al. (2009) | No | - |
4 | Recent Recommendation | Expression of fatty acid-binding proteins in adult hippocampal neurogenic niche of postischemic monkeys | Boneva NB , et al. (2009) | No | - |
5 | Primary | Polymorphism screening of brain-expressed FABP7, 5 and 3 genes and association studies in autism and schizophrenia in Japanese subjects | Maekawa M , et al. (2010) | Yes | SCZ |
6 | Support | Functional characterization of FABP3, 5 and 7 gene variants identified in schizophrenia and autism spectrum disorder and mouse behavioral studies | Shimamoto C , et al. (2014) | Yes | SCZ |
7 | Support | Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks | Ruzzo EK , et al. (2019) | Yes | - |
8 | Support | - | Zhou X et al. (2022) | Yes | - |
Rare Variants (5)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
C>T | - | intron_variant | - | - | - | 20057506 | Maekawa M , et al. (2010) | |
c.340G>C | p.Gly114Arg | missense_variant | - | - | - | 20057506 | Maekawa M , et al. (2010) | |
c.331T>C | p.Leu111= | synonymous_variant | - | - | - | 20057506 | Maekawa M , et al. (2010) | |
c.102A>G | p.Lys34= | synonymous_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
c.253_256del | p.Thr85SerfsTer22 | frameshift_variant | Familial | Maternal | Multiplex | 31398340 | Ruzzo EK , et al. (2019) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate


One report of association without independent validation (Maekawa et al., 2010).
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
4/1/2022

Decreased from 3 to 2
Description
One report of association without independent validation (Maekawa et al., 2010).
10/1/2019

Decreased from 4 to 3
New Scoring Scheme
Description
One report of association without independent validation (Maekawa et al., 2010).
Reports Added
[New Scoring Scheme]7/1/2019

Decreased from 4 to 4
Description
One report of association without independent validation (Maekawa et al., 2010).
7/1/2014

Increased from No data to 4
Description
One report of association without independent validation (Maekawa et al., 2010).
Reports Added
[Molecular cloning and expression of a novel keratinocyte protein (psoriasis-associated fatty acid-binding protein [PA-FABP]) that is highly up-regu...1992] [The mammalian fatty acid-binding protein multigene family: molecular and genetic insights into function.2000] [Identification of intracellular carriers for the endocannabinoid anandamide.2009] [Expression of fatty acid-binding proteins in adult hippocampal neurogenic niche of postischemic monkeys.2009] [Polymorphism screening of brain-expressed FABP7, 5 and 3 genes and association studies in autism and schizophrenia in Japanese subjects.2010] [Functional characterization of FABP3, 5 and 7 gene variants identified in schizophrenia and autism spectrum disorder and mouse behavioral studies.2014]4/1/2014

Increased from No data to 4
Description
One report of association without independent validation (Maekawa et al., 2010).
Krishnan Probability Score
Score 0.44935774089908
Ranking 11194/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.09583820082204
Ranking 7907/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.88364437051337
Ranking 5069/18665 scored genes
[Show Scoring Methodology]
Larsen Cumulative Evidence Score
Score 0
Ranking 445/461 scored genes
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Zhang D Score
Score -0.74709985958603
Ranking 20508/20870 scored genes
[Show Scoring Methodology]
External PIN Data
Interactome
- Protein Binding
- DNA Binding
- RNA Binding
- Protein Modification
- Direct Regulation
- ASD-Linked Genes
Interaction Table
Interactor Symbol | Interactor Name | Interactor Organism | Interactor Type | Entrez ID | Uniprot ID |
---|---|---|---|---|---|
S100A7 | S100 calcium binding protein A7 | Human | Protein Binding | 6278 | P31151 |