FABP12 fatty acid binding protein 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FABP12provided by HGNC
Official Full Name: fatty acid binding protein 12provided by HGNC
Primary source: HGNC:HGNC:34524
See related: Ensembl:ENSG00000197416 MIM:618923; AllianceGenome:HGNC:34524
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Predicted to enable fatty acid binding activity. Predicted to be involved in fatty acid transport. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 8q21.13

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (81524981..81590139, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (81956575..82022256, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (82437216..82446102, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The FABP12/PPARgamma pathway promotes metastatic transformation by inducing epithelial-to-mesenchymal transition and lipid-derived energy production in prostate cancer cells.
Title: The FABP12/PPARγ pathway promotes metastatic transformation by inducing epithelial-to-mesenchymal transition and lipid-derived energy production in prostate cancer cells.
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.
Title: Marie Unna hereditary hypotrichosis accompanied by multiple familial trichoepithelioma in a Chinese family.
FABP12 arose as the result of tandem gene duplication, a mechanism that may have been instrumental to the expansion of the FABP family.
Title: A novel fatty acid-binding protein (FABP) gene resulting from tandem gene duplication in mammals: transcription in rat retina and testis.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AFMa126zg5 (e-PCR)
- UniSTS:76454

D8S2056 (e-PCR)
- UniSTS:48814

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables fatty acid binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in fatty acid transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: fatty acid-binding protein 12

Names: Probable fatty acid-binding protein ENSP00000353650; fatty acid binding protein ORF; intracellular fatty acid-binding protein FABP12

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001105281.6 → NP_001098751.1 fatty acid-binding protein 12

See identical proteins and their annotated locations for NP_001098751.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the protein-coding transcript.

Source sequence(s)

AC023644

Consensus CDS

CCDS47882.1

UniProtKB/Swiss-Prot

A6NFH5, B7SUN0

Related

ENSP00000353650.4, ENST00000360464.6

Conserved Domains (1) summary

pfam00061
Location:6 → 131

Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family

RNA

NR_144370.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC023644, BC146973, BE463892

Related

ENST00000519696.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

81524981..81590139 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011517577.3 → XP_011515879.1 fatty acid-binding protein 12 isoform X1

See identical proteins and their annotated locations for XP_011515879.1

UniProtKB/Swiss-Prot

A6NFH5, B7SUN0

Related

ENSP00000510293.1, ENST00000692030.1

Conserved Domains (1) summary

pfam00061
Location:6 → 131

Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family
XM_006716465.4 → XP_006716528.1 fatty acid-binding protein 12 isoform X1

See identical proteins and their annotated locations for XP_006716528.1

UniProtKB/Swiss-Prot

A6NFH5, B7SUN0

Conserved Domains (1) summary

pfam00061
Location:6 → 131

Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

81956575..82022256 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054361014.1 → XP_054216989.1 fatty acid-binding protein 12 isoform X1

UniProtKB/Swiss-Prot

A6NFH5, B7SUN0
XM_054361013.1 → XP_054216988.1 fatty acid-binding protein 12 isoform X1

UniProtKB/Swiss-Prot

A6NFH5, B7SUN0