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    FEZ2 fasciculation and elongation protein zeta 2 [ Homo sapiens (human) ]

    Gene ID: 9637, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FEZ2provided by HGNC
    Official Full Name
    fasciculation and elongation protein zeta 2provided by HGNC
    Primary source
    HGNC:HGNC:3660
    See related
    Ensembl:ENSG00000171055 MIM:604826; AllianceGenome:HGNC:3660
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HUM3CL
    Summary
    This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Other orthologs include the rat gene that encodes zygin II, which can bind to synaptotagmin. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in fat (RPKM 32.7), brain (RPKM 29.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FEZ2 in Genome Data Viewer
    Location:
    2p22.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (36552258..36598168, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (36556883..36604833, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (36779401..36825311, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124907753 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:36607886-36608402 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:36609434-36609948 Neighboring gene cysteine rich transmembrane BMP regulator 1 Neighboring gene uncharacterized LOC124905989 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:36676488-36677687 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:36685741-36686420 Neighboring gene Sharpr-MPRA regulatory region 272 Neighboring gene Sharpr-MPRA regulatory region 355 Neighboring gene Sharpr-MPRA regulatory region 14108 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:36734536-36735080 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:36788221-36789420 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:36824452-36825379 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:36825380-36826306 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:36827234-36828159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15575 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15576 Neighboring gene Sharpr-MPRA regulatory region 2322 Neighboring gene RACK1 pseudogene 2 Neighboring gene uncharacterized LOC124905990 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:36964254-36964949 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:36981017-36981669 Neighboring gene vitrin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15577

    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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    Related articles in PubMed

    1. FEZ2 has acquired additional protein interaction partners relative to FEZ1: functional and evolutionary implications. Alborghetti MR, et al. PLoS One, 2011 Mar 8. PMID 21408165, Free PMC Article
    2. Identification of human pre-T/NK cell-associated genes. Ranes-Goldberg MG, et al. J Immunol, 1993 Nov 15. PMID 8228263
    3. The Caenorhabditis elegans gene unc-76 and its human homologs define a new gene family involved in axonal outgrowth and fasciculation. Bloom L, et al. Proc Natl Acad Sci U S A, 1997 Apr 1. PMID 9096408, Free PMC Article
    4. Identification of a tissue-non-specific homologue of axonal fasciculation and elongation protein zeta-1. Fujita T, et al. Biochem Biophys Res Commun, 2004 Jan 16. PMID 14697253
    5. CRIM1, a novel gene encoding a cysteine-rich repeat protein, is developmentally regulated and implicated in vertebrate CNS development and organogenesis. Kolle G, et al. Mech Dev, 2000 Feb. PMID 10642437

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FEZ2 interacted with 59 proteins and that of these only 40 interacted with FEZ1.
      Title: FEZ2 has acquired additional protein interaction partners relative to FEZ1: functional and evolutionary implications.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Human variation in alcohol response is influenced by variation in neuronal signaling genes.
    4. the C-terminal regions of FEZ1, and especially its coiled-coil region, are involved in its dimerization, its heterodimerization with FEZ2, and in the interaction with 10 of the identified interacting proteins
      Title: FEZ1 dimerization and interaction with transcription regulatory proteins involves its coiled-coil region.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC117372

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axon guidance TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of autophagosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    fasciculation and elongation protein zeta-2
    Names
    pre-T/NK cell associated protein (3Cl)
    zygin 2
    zygin II

    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_001042548.2 → NP_001036013.1  fasciculation and elongation protein zeta-2 isoform 2

      See identical proteins and their annotated locations for NP_001036013.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternate in-frame exon, compared to variant 1, resulting in a longer protein isoform.
      Source sequence(s)
      AC007401, BC089390
      Consensus CDS
      CCDS46258.1
      UniProtKB/TrEMBL
      Q0D2I6
      Related
      ENSP00000368547.4, ENST00000379245.8
      Conserved Domains (1) summary
      pfam07763
      Location:51 → 270
      FEZ; FEZ-like protein

    2. NM_005102.3 → NP_005093.2  fasciculation and elongation protein zeta-2 isoform 1

      See identical proteins and their annotated locations for NP_005093.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the more abundant transcript.
      Source sequence(s)
      AC007401, BC037566
      Consensus CDS
      CCDS46257.1
      UniProtKB/Swiss-Prot
      Q5EBN3, Q76LN0, Q99690, Q9UHY8
      UniProtKB/TrEMBL
      Q0D2I6
      Related
      ENSP00000385112.3, ENST00000405912.8
      Conserved Domains (1) summary
      pfam07763
      Location:51 → 270
      FEZ; FEZ-like protein

    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
      36552258..36598168 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_244972.4 RNA Sequence

      Related
      ENST00000451623.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      36556883..36604833 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344669.1 → XP_054200644.1  fasciculation and elongation protein zeta-2 isoform X1

    RNA

    1. XR_008486604.1 RNA Sequence

    2. XR_008486605.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UHY8.2 GenPept UniProtKB/Swiss-Prot:Q9UHY8

    Gene LinkOut

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

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