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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
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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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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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