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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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See SAXO2 in Genome Data Viewer
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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