FABP12

Summary

FABP12 (fatty acid binding protein 12, HGNC:34524) is a protein-coding gene on chromosome 8q21.13, encoding Fatty acid-binding protein 12 (A6NFH5). May play a role in lipid transport.

Predicted to enable fatty acid binding activity. Predicted to be involved in fatty acid transport. Predicted to be active in cytosol and nucleus.

Source: NCBI Gene 646486 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 37 total
• MANE Select transcript: NM_001105281

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34524
Approved symbol	FABP12
Name	fatty acid binding protein 12
Location	8q21.13
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000197416
Ensembl biotype	protein_coding
OMIM	618923
Entrez	646486

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 nonsense_mediated_decay

ENST00000360464, ENST00000519696, ENST00000692030, ENST00000875199

RefSeq mRNA: 1 — MANE Select: NM_001105281 NM_001105281

CCDS: CCDS47882

Canonical transcript exons

ENST00000360464 — 5 exons

Exon	Start	End
ENSE00001402207	81529438	81529610
ENSE00003574891	81524981	81525120
ENSE00003605056	81527020	81527121
ENSE00003934400	81531243	81531390
ENSE00003935133	81533802	81533867

Expression profiles

Bgee: expression breadth broad, 63 present calls, max score 86.24.

Top tissues by expression

99 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.24	gold quality
left testis	UBERON:0004533	72.23	gold quality
testis	UBERON:0000473	71.29	gold quality
esophagus mucosa	UBERON:0002469	70.79	gold quality
right testis	UBERON:0004534	70.24	gold quality
lower esophagus mucosa	UBERON:0035834	65.40	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	61.38	gold quality
vagina	UBERON:0000996	58.72	gold quality
esophagus	UBERON:0001043	47.58	gold quality
adenohypophysis	UBERON:0002196	46.31	gold quality
pituitary gland	UBERON:0000007	45.56	gold quality
duodenum	UBERON:0002114	45.23	gold quality
adrenal tissue	UBERON:0018303	38.82	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	37.74	gold quality
ectocervix	UBERON:0012249	37.58	gold quality
uterine cervix	UBERON:0000002	37.53	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
vermiform appendix	UBERON:0001154	35.49	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
prefrontal cortex	UBERON:0000451	35.20	gold quality
islet of Langerhans	UBERON:0000006	35.13	gold quality
small intestine	UBERON:0002108	33.84	gold quality
minor salivary gland	UBERON:0001830	33.58	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
bone marrow	UBERON:0002371	33.35	gold quality
small intestine Peyer’s patch	UBERON:0003454	33.30	silver quality
saliva-secreting gland	UBERON:0001044	33.19	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.96

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 3)

• FABP12 arose as the result of tandem gene duplication, a mechanism that may have been instrumental to the expansion of the FABP family. (PMID:18786628)
• Study in a large, five-generation Han Chinese family with several patients presenting with Marie Unna hereditary hypotrichosis (MUHH) and multiple familial trichoepithelioma (MFT) revealed that the c.1A>G mutation in HR (U2HR) was present in all MUHH patients. No pathogenic variants were found in EPS8L3 or CYLD in any family members but FABP12 (rs536105592 G>A) was identified in the patients with both MUHH and MFT. (PMID:30809827)
• The FABP12/PPARgamma pathway promotes metastatic transformation by inducing epithelial-to-mesenchymal transition and lipid-derived energy production in prostate cancer cells. (PMID:33031638)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
danio_rerio	fabp4b	ENSDARG00000002311
danio_rerio	fabp4a	ENSDARG00000017299
danio_rerio	rbp7a	ENSDARG00000091906
danio_rerio	rbp5	ENSDARG00000101481
danio_rerio		ENSDARG00000109259
mus_musculus	Fabp12	ENSMUSG00000027530
rattus_norvegicus	Fabp12	ENSRNOG00000038825
drosophila_melanogaster	fabp	FBGN0037913
caenorhabditis_elegans		WBGENE00002259
caenorhabditis_elegans		WBGENE00002260

Paralogs (15): RBP2 (ENSG00000114113), RBP1 (ENSG00000114115), FABP3 (ENSG00000121769), RBP5 (ENSG00000139194), CRABP2 (ENSG00000143320), FABP2 (ENSG00000145384), PMP2 (ENSG00000147588), RBP7 (ENSG00000162444), FABP1 (ENSG00000163586), FABP7 (ENSG00000164434), FABP5 (ENSG00000164687), CRABP1 (ENSG00000166426), FABP6 (ENSG00000170231), FABP4 (ENSG00000170323), FABP9 (ENSG00000205186)

Protein

Protein identifiers

Fatty acid-binding protein 12 — A6NFH5 (reviewed: A6NFH5)

All UniProt accessions (2): A6NFH5, H0YAS1

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in lipid transport.

Tissue specificity. Expressed in a number of retinoblastoma cell lines.

Similarity. Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.

RefSeq proteins (1): NP_001098751* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000463	Fatty_acid-bd	Domain
IPR000566	Lipocln_cytosolic_FA-bd_dom	Domain
IPR012674	Calycin	Homologous_superfamily
IPR031259	ILBP	Family

Pfam: PF00061

UniProt features (3 total): binding site 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NFH5-F1	93.11	0.85

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (2): 107; 127–129

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-163560	Triglyceride catabolism

MSigDB gene sets: 26 (showing top): REACTOME_TRIGLYCERIDE_CATABOLISM, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_MONOCARBOXYLIC_ACID_TRANSPORT, GOBP_LIPID_LOCALIZATION, GOBP_FATTY_ACID_TRANSPORT, GOMF_FATTY_ACID_BINDING, GOMF_ORGANIC_ACID_BINDING, GOMF_LIPID_BINDING, chr8q21, GOMF_MONOCARBOXYLIC_ACID_BINDING, REACTOME_METABOLISM_OF_LIPIDS, REACTOME_TRIGLYCERIDE_METABOLISM, GSE13173_UNTREATED_VS_IL12_TREATED_ACT_CD8_TCELL_UP, GSE14413_UNSTIM_VS_IFNB_STIM_L929_CELLS_UP

GO Biological Process (1): fatty acid transport (GO:0015908)

GO Molecular Function (2): fatty acid binding (GO:0005504), lipid binding (GO:0008289)

GO Cellular Component (2): nucleus (GO:0005634), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Triglyceride metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
lipid transport	1
monocarboxylic acid transport	1
lipid binding	1
monocarboxylic acid binding	1
binding	1
intracellular membrane-bounded organelle	1
cytoplasm	1
cellular anatomical structure	1

Protein interactions and networks

STRING

394 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FABP12	FABP6	P51161	625
FABP12	GOT2	P00505	423
FABP12	FABP1	P07148	368
FABP12	LRRN4CL	Q8ND94	367
FABP12	PDCL2	Q8N4E4	344
FABP12	SPMIP5	Q8WW14	331
FABP12	PPARG	P37231	322
FABP12	SEC14L5	O43304	317
FABP12	TDRD10	Q5VZ19	299
FABP12	IGSF9B	Q9UPX0	297
FABP12	VXN	Q8TAG6	296
FABP12	TMEM45B	Q96B21	283
FABP12	SERPINB11	Q96P15	282
FABP12	SAPCD2	Q86UD0	278
FABP12	TLCD4	Q96MV1	277

IntAct

0 interactions, top by confidence:

BioGRID (1): FABP12 (Synthetic Lethality)

ESM2 similar proteins: A6NFH5, B7SUM8, O01812, O01814, O02323, O02324, O02772, O08716, O15540, O45035, P02689, P02690, P02691, P02693, P05413, P0C6G6, P12104, P24526, P29498, P41496, P41509, P48035, P51880, P55050, P55051, P55054, P80049, P80856, P81653, P82289, P83409, Q02970, Q0Z7S8, Q17284, Q1AMT3, Q45KW7, Q56JX9, Q7M4G0, Q7M4G1, Q865F7

Diamond homologs: A0A0K0MJ13, A0A0K0MJN3, A6NFH5, A6YLM6, A8MUU1, B7SUM8, C4N147, O01812, O01814, O02323, O02324, O02772, O08716, O13008, O15540, O42386, O45035, O76821, O97788, P02689, P02690, P02691, P02694, P02696, P04117, P05413, P06768, P07148, P07483, P09455, P0C6G6, P10790, P11404, P12710, P15090, P22935, P24526, P29373, P29498, P29762

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

37 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	33
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

453 predictions. Top by Δscore:

Variant	Effect	Δscore
8:81527117:TTACT:T	acceptor_gain	1.0000
8:81527118:TACT:T	acceptor_gain	1.0000
8:81527120:CT:C	acceptor_gain	1.0000
8:81527121:TC:T	acceptor_loss	1.0000
8:81527122:C:CC	acceptor_gain	1.0000
8:81527123:T:A	acceptor_loss	1.0000
8:81529432:CCTCA:C	donor_loss	1.0000
8:81529433:CTCA:C	donor_loss	1.0000
8:81529434:TCA:T	donor_loss	1.0000
8:81529435:CAC:C	donor_loss	1.0000
8:81529436:A:AG	donor_loss	1.0000
8:81529437:C:T	donor_loss	1.0000
8:81529606:TATAC:T	acceptor_gain	1.0000
8:81529607:ATAC:A	acceptor_gain	1.0000
8:81529608:TAC:T	acceptor_gain	1.0000
8:81529609:AC:A	acceptor_gain	1.0000
8:81529610:CC:C	acceptor_gain	1.0000
8:81529611:C:CC	acceptor_gain	1.0000
8:81529619:C:T	acceptor_gain	1.0000
8:81531237:G:C	donor_gain	1.0000
8:81531242:CCCAG:C	donor_gain	1.0000
8:81531245:AGCT:A	donor_gain	1.0000
8:81531246:G:C	donor_gain	1.0000
8:81525116:CTTTC:C	acceptor_gain	0.9900
8:81527013:AACT:A	donor_loss	0.9900
8:81527014:ACT:A	donor_loss	0.9900
8:81527015:CTC:C	donor_loss	0.9900
8:81527016:TCAC:T	donor_gain	0.9900
8:81527016:TCACC:T	donor_loss	0.9900
8:81527017:CACC:C	donor_gain	0.9900

AlphaMissense

917 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:81529471:A:C	F71L	0.932
8:81529471:A:T	F71L	0.932
8:81529473:A:G	F71L	0.932
8:81529489:A:C	F65L	0.915
8:81529489:A:T	F65L	0.915
8:81529491:A:G	F65L	0.915
8:81525089:C:G	R127P	0.876
8:81531289:C:A	W9C	0.862
8:81531289:C:G	W9C	0.862
8:81527047:T:A	R107S	0.821
8:81527047:T:G	R107S	0.821
8:81531291:A:G	W9R	0.810
8:81531291:A:T	W9R	0.810
8:81529516:G:C	S56R	0.746
8:81529516:G:T	S56R	0.746
8:81529518:T:G	S56R	0.746
8:81527119:A:C	S83R	0.744
8:81527119:A:T	S83R	0.744
8:81527121:T:G	S83R	0.744
8:81527027:A:G	M114T	0.736
8:81529510:A:C	F58L	0.727
8:81529510:A:T	F58L	0.727
8:81529512:A:G	F58L	0.727
8:81531290:C:G	W9S	0.712
8:81529490:A:G	F65S	0.677
8:81529556:A:C	I43S	0.659
8:81531290:C:A	W9L	0.655
8:81529556:A:G	I43T	0.632
8:81525115:A:C	S118R	0.629
8:81525115:A:T	S118R	0.629

dbSNP variants (sampled 300 via entrez): RS1000000210 (8:81564987 T>TA), RS1000188887 (8:81545469 A>C), RS1000209553 (8:81546889 C>T), RS1000221331 (8:81545819 C>G), RS1000227223 (8:81541495 T>C), RS1000240529 (8:81546578 G>A,C), RS1000283988 (8:81587602 A>C,G), RS1000331069 (8:81580327 G>A), RS1000424806 (8:81553524 G>C), RS1000471868 (8:81533189 C>G), RS1000474725 (8:81552090 G>A), RS1000570281 (8:81533843 C>T), RS1000608059 (8:81568554 A>G), RS1000622508 (8:81533479 T>C), RS1000634599 (8:81587246 T>C)

Disease associations

OMIM: gene MIM:618923 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST001941_13	Ovarian cancer	6.000000e-09
GCST001941_17	Ovarian cancer	7.000000e-10
GCST011741_37	LDL cholesterol levels in HIV infection	3.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004611	low density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: other protein — Fatty acid-binding proteins

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
theaflavin-3,3’-digallate	affects expression	1
Rotenone	decreases expression	1
Aflatoxin B1	decreases methylation	1
Permethrin	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.