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FIGN fidgetin, microtubule severing factor [ Homo sapiens (human) ]

Gene ID: 55137, updated on 2-Nov-2024

Summary

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Official Symbol
FIGNprovided by HGNC
Official Full Name
fidgetin, microtubule severing factorprovided by HGNC
Primary source
HGNC:HGNC:13285
See related
Ensembl:ENSG00000182263 MIM:605295; AllianceGenome:HGNC:13285
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 ATP hydrolysis activity and microtubule severing ATPase activity. Predicted to be involved in cell division and microtubule cytoskeleton organization. Predicted to act upstream of or within locomotory behavior. Predicted to be located in nuclear matrix. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in ovary (RPKM 1.1), fat (RPKM 1.0) and 25 other tissues See more
Orthologs
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Genomic context

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See FIGN in Genome Data Viewer
Location:
2q24.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (163602611..163736008, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (164059859..164193293, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (164459121..164592518, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373727 Neighboring gene RNA, U6 small nuclear 627, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:164204489-164205088 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_55575 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_55577 Neighboring gene uncharacterized LOC107985829 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:164304809-164304985 Neighboring gene uncharacterized LOC105373728 Neighboring gene VISTA enhancer hs170 Neighboring gene NANOG hESC enhancer GRCh37_chr2:164478034-164478535 Neighboring gene Sharpr-MPRA regulatory region 10417 Neighboring gene uncharacterized LOC107985957 Neighboring gene VISTA enhancer hs640 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:164593125-164593641 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:164593642-164594157 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:164627636-164628835 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:164765722-164766240 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:164766241-164766758 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:164809702-164810901 Neighboring gene VISTA enhancer hs421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16724 Neighboring gene Sharpr-MPRA regulatory region 13497 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:165027147-165027366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16725 Neighboring gene phosphoribosyl pyrophosphate synthetase 1 pseudogene 1 Neighboring gene cytochrome P450 family 2 subfamily C member 56, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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?
  1. Comprehensive characterization of Fidgetin on tumor immune microenvironment evaluation and immunotherapy in human hepatocellular carcinoma.
    Title: Comprehensive characterization of Fidgetin on tumor immune microenvironment evaluation and immunotherapy in human hepatocellular carcinoma.
  2. Fidgetin as a potential prognostic biomarker for hepatocellular carcinoma.
    Title: Fidgetin as a potential prognostic biomarker for hepatocellular carcinoma.
  3. FIGN might play an important role in decreased congenital heart defect risk by upregulating plasma folate concentration during embryo heart development
    Title: A Genetic Variant in FIGN Gene Reduces the Risk of Congenital Heart Disease in Han Chinese Populations.
  4. FIGN +94762G>C polymorphism reduced the risk of congenital heart defects by activating the transcription of an alternative FIGN isoform, inhibiting proteasome activity and allowing the accumulation of RFC1 and DHFR, promoting folate transmembrane transport and utilization.
    Title: Lower Circulating Folate Induced by a Fidgetin Intronic Variant Is Associated With Reduced Congenital Heart Disease Susceptibility.
  5. The loss of Fidgetin induces a microtubule-dependent enlargement of mitotic centrosomes and an increase in the number and length of astral microtubules.
    Title: Human Fidgetin is a microtubule severing the enzyme and minus-end depolymerase that regulates mitosis.
  6. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  7. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genome-wide association study of antipsychotic-induced parkinsonism severity among schizophrenia patients.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.
EBI GWAS Catalog
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
EBI GWAS Catalog
Genome-wide association study of antipsychotic-induced parkinsonism severity among schizophrenia patients.
EBI GWAS Catalog
Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
EBI GWAS Catalog

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables microtubule severing ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell division IEA
Inferred from Electronic Annotation
more info
  
involved_in microtubule cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in centrosome IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in microtubule IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear matrix ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
fidgetin

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)

  1. NM_001321825.2 → NP_001308754.1  fidgetin isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC092684, AC093727
    Conserved Domains (1) summary
    COG0464
    Location:460 → 735
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

  2. NM_018086.4 → NP_060556.2  fidgetin isoform 1

    See identical proteins and their annotated locations for NP_060556.2

    Status: VALIDATED

    Source sequence(s)
    AC092684, AC093727, AK125324, BX649105
    Consensus CDS
    CCDS2221.2
    UniProtKB/Swiss-Prot
    B3KWM0, Q5HY92, Q9H6M5, Q9NVZ9
    Related
    ENSP00000333836.3, ENST00000333129.4
    Conserved Domains (1) summary
    COG0464
    Location:471 → 746
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

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

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    163602611..163736008 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047444863.1 → XP_047300819.1  fidgetin isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    164059859..164193293 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054342736.1 → XP_054198711.1  fidgetin isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5HY92.2 GenPept UniProtKB/Swiss-Prot:Q5HY92

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
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