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    FIGNL2 fidgetin like 2 [ Homo sapiens (human) ]

    Gene ID: 401720, updated on 2-May-2024

    Summary

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    Official Symbol
    FIGNL2provided by HGNC
    Official Full Name
    fidgetin like 2provided by HGNC
    Primary source
    HGNC:HGNC:13287
    See related
    Ensembl:ENSG00000261308 MIM:620503; AllianceGenome:HGNC:13287
    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 be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in kidney (RPKM 1.7), testis (RPKM 0.4) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FIGNL2 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (51817899..51848718, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (51781425..51812316, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52211683..52242502, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene sodium voltage-gated channel alpha subunit 8 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4473 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:52208409-52208908 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52220360-52220860 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52221534-52222085 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52223188-52223737 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52229864-52230815 Neighboring gene transmembrane and death domain 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52238698-52239408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52239409-52240117 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:52240828-52241536 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52241735-52242726 Neighboring gene FIGNL2 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52256788-52257308 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52262827-52263460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52263461-52264092 Neighboring gene filamin-B-like Neighboring gene ankyrin repeat domain 33

    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
    • 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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    Related articles in PubMed

    1. The mouse fidgetin gene defines a new role for AAA family proteins in mammalian development. Cox GA, et al. Nat Genet, 2000 Oct. PMID 11017077
    2. The finished DNA sequence of human chromosome 12. Scherer SE, et al. Nature, 2006 Mar 16. PMID 16541075
    3. Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development. Wang P, et al. J Clin Invest, 2019 Jul 25. PMID 31343991, Free PMC Article
    4. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
    5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Fidgetin-like 2 depletion enhances cell migration by regulating GEF-H1, RhoA, and FAK.
      Title: Fidgetin-like 2 depletion enhances cell migration by regulating GEF-H1, RhoA, and FAK.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    Process Evidence Code Pubs
    involved_in microtubule severing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in morphogenesis of a branching structure ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of axon regeneration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of wound healing, spreading of epidermal cells ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cell cortex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell leading edge IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    fidgetin-like protein 2
    Names
    putative fidgetin-like protein 2

    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_001013690.5 → NP_001013712.4  fidgetin-like protein 2

      See identical proteins and their annotated locations for NP_001013712.4

      Status: VALIDATED

      Source sequence(s)
      AC068987
      Consensus CDS
      CCDS86302.1
      UniProtKB/Swiss-Prot
      A6NMB9
      Conserved Domains (2) summary
      pfam09336
      Location:614 → 650
      Vps4_C; Vps4 C terminal oligomerization domain
      cd19523
      Location:393 → 555
      RecA-like_fidgetin; ATPase domain of fidgetin

    2. NM_001384995.1 → NP_001371924.1  fidgetin-like protein 2

      Status: VALIDATED

      Source sequence(s)
      AC068987
      Consensus CDS
      CCDS86302.1
      UniProtKB/Swiss-Prot
      A6NMB9
      Related
      ENSP00000491257.1, ENST00000618634.3
      Conserved Domains (2) summary
      pfam09336
      Location:614 → 650
      Vps4_C; Vps4 C terminal oligomerization domain
      cd19523
      Location:393 → 555
      RecA-like_fidgetin; ATPase domain of fidgetin

    3. NM_001384996.1 → NP_001371925.1  fidgetin-like protein 2

      Status: VALIDATED

      Source sequence(s)
      AC068987
      Consensus CDS
      CCDS86302.1
      UniProtKB/Swiss-Prot
      A6NMB9
      Conserved Domains (2) summary
      pfam09336
      Location:614 → 650
      Vps4_C; Vps4 C terminal oligomerization domain
      cd19523
      Location:393 → 555
      RecA-like_fidgetin; ATPase domain of fidgetin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      51817899..51848718 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019299.2 → XP_016874788.1  fidgetin-like protein 2 isoform X2

    2. XM_017019298.2 → XP_016874787.1  fidgetin-like protein 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      51781425..51812316 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372048.1 → XP_054228023.1  fidgetin-like protein 2 isoform X2

    2. XM_054372047.1 → XP_054228022.1  fidgetin-like protein 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NMB9.2 GenPept UniProtKB/Swiss-Prot:A6NMB9

    Gene LinkOut

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

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