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

Summary

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 microtubule-severing ATPase activity. Predicted to be involved in cytoplasmic microtubule organization. Predicted to act upstream of or within locomotory behavior. Predicted to be located in nuclear matrix. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in ovary (RPKM 1.1), fat (RPKM 1.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q24.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (163602611..163736008, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (164059859..164193293, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (164459121..164592518, complement)

Chromosome 2 - NC_000002.12 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?

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.
Fidgetin as a potential prognostic biomarker for hepatocellular carcinoma.
Title: Fidgetin as a potential prognostic biomarker for hepatocellular carcinoma.
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.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

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

AFMa081we1 (e-PCR)
- UniSTS:3110

RH69236 (e-PCR)
- UniSTS:48435

SHGC-68802 (e-PCR)
- UniSTS:100688

SHGC-156154 (e-PCR)
- UniSTS:185282

D5S1381 (e-PCR)
- UniSTS:149190

SHGC-147520 (e-PCR)
- UniSTS:175857

FIGN__6723 (e-PCR)
- UniSTS:466175

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)

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]
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]