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    SAXO2 stabilizer of axonemal microtubules 2 [ Homo sapiens (human) ]

    Gene ID: 283726, updated on 5-Mar-2024

    Summary

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    Official Symbol
    SAXO2provided by HGNC
    Official Full Name
    stabilizer of axonemal microtubules 2provided by HGNC
    Primary source
    HGNC:HGNC:33727
    See related
    Ensembl:ENSG00000188659 AllianceGenome:HGNC:33727
    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
    Also known as
    FAM154B
    Summary
    Predicted to enable microtubule binding activity. Predicted to be involved in microtubule anchoring. Predicted to be active in microtubule cytoskeleton; nucleus; and sperm flagellum. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in lung (RPKM 3.6), testis (RPKM 1.5) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    15q25.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (82262818..82284927)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (80126935..80149045)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (82555159..82577268)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370924 Neighboring gene long intergenic non-protein coding RNA 1583 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr15:82392793-82393305 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6747 Neighboring gene elongation factor like GTPase 1 Neighboring gene RNA, U1 small nuclear 77, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9960 Neighboring gene MPRA-validated peak2402 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr15:82553005-82553191 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9962 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:82559427-82559987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9963 Neighboring gene ADAMTS7 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:82611132-82611632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:82611633-82612133 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:82621782-82622282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:82622283-82622783 Neighboring gene dynamin 1 pseudogene 43

    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. Human FAM154A (SAXO1) is a microtubule-stabilizing protein specific to cilia and related structures. Dacheux D, et al. J Cell Sci, 2015 Apr 1. PMID 25673876
    2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    3. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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

    Clone Names

    • DKFZp666G057

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in axonemal microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in sperm flagellum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    stabilizer of axonemal microtubules 2
    Names
    family with sequence similarity 154, member B
    protein FAM154B

    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_001008226.2 → NP_001008227.1  stabilizer of axonemal microtubules 2 isoform c

      See identical proteins and their annotated locations for NP_001008227.1

      Status: VALIDATED

      Source sequence(s)
      AL833762
      Consensus CDS
      CCDS32310.1
      UniProtKB/Swiss-Prot
      B4E2M2, Q658L1
      Related
      ENSP00000340445.5, ENST00000339465.5

    2. NM_001348699.2 → NP_001335628.1  stabilizer of axonemal microtubules 2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC026624, DB233386
      Consensus CDS
      CCDS92049.1
      UniProtKB/TrEMBL
      A0A804HKW2
      Related
      ENSP00000508095.1, ENST00000682753.1

    3. NM_001348700.2 → NP_001335629.1  stabilizer of axonemal microtubules 2 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2), as well as variant 3, encodes isoform b.
      Source sequence(s)
      AC026624

    4. NM_001348701.2 → NP_001335630.1  stabilizer of axonemal microtubules 2 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3), as well as variant 2, encodes isoform b.
      Source sequence(s)
      AC026624, DB215297

    5. NM_001348702.2 → NP_001335631.1  stabilizer of axonemal microtubules 2 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5), as well as variant 6, encodes isoform d.
      Source sequence(s)
      AC026624
      UniProtKB/Swiss-Prot
      Q658L1

    6. NM_001348703.2 → NP_001335632.1  stabilizer of axonemal microtubules 2 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6), as well as variant 5, encodes isoform d.
      Source sequence(s)
      AC026624, AK304339
      UniProtKB/Swiss-Prot
      Q658L1

    7. NM_001348704.2 → NP_001335633.1  stabilizer of axonemal microtubules 2 isoform e

      Status: VALIDATED

      Source sequence(s)
      AC026624

    8. NM_001348705.2 → NP_001335634.1  stabilizer of axonemal microtubules 2 isoform f

      Status: VALIDATED

      Source sequence(s)
      AC026624, BF942184, BX090922
      Related
      ENST00000562097.5

    9. NM_001348706.2 → NP_001335635.1  stabilizer of axonemal microtubules 2 isoform g

      Status: VALIDATED

      Source sequence(s)
      AC026624

    RNA

    1. NR_145958.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC026624, AI634060, BX090922
      Related
      ENST00000566205.1

    2. NR_145959.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC026624, BX090922
      Related
      ENST00000566861.5

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      82262818..82284927
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449902.2 → XP_024305670.1  stabilizer of axonemal microtubules 2 isoform X1

    2. XM_047432398.1 → XP_047288354.1  stabilizer of axonemal microtubules 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      80126935..80149045
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377741.1 → XP_054233716.1  stabilizer of axonemal microtubules 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q658L1.1 GenPept UniProtKB/Swiss-Prot:Q658L1

    Gene LinkOut

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

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