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    TOGARAM2 TOG array regulator of axonemal microtubules 2 [ Homo sapiens (human) ]

    Gene ID: 165186, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TOGARAM2provided by HGNC
    Official Full Name
    TOG array regulator of axonemal microtubules 2provided by HGNC
    Primary source
    HGNC:HGNC:33715
    See related
    Ensembl:ENSG00000189350 MIM:620949; AllianceGenome:HGNC:33715
    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
    FAM179A
    Summary
    Predicted to enable microtubule binding activity. Predicted to be involved in microtubule cytoskeleton organization. Predicted to be located in microtubule cytoskeleton. Predicted to be active in cilium and cytoplasmic microtubule. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in lung (RPKM 1.7), spleen (RPKM 1.2) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TOGARAM2 in Genome Data Viewer
    Location:
    2p23.2
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (28956518..29052230)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (29000095..29095689)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (29204164..29275096)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene WD repeat domain 43 Neighboring gene small nucleolar RNA, C/D box 53B Neighboring gene small nucleolar RNA, C/D box 53 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:29246593-29247094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:29264781-29265402 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:29275821-29276331 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:29285737-29286651 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:29287995-29288677 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:29289979-29290479 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:29303580-29304080 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15531 Neighboring gene uncharacterized LOC105374386 Neighboring gene photoreceptor cilium actin regulator Neighboring gene CLIP4 5' region CAGE-defined mid-level expression enhancer Neighboring gene CAP-Gly domain containing linker protein family member 4

    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. Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2. Ramzan M, et al. Eur J Hum Genet, 2024 Jun. PMID 38374469,
    2. Crescerin uses a TOG domain array to regulate microtubules in the primary cilium. Das A, et al. Mol Biol Cell, 2015 Nov 15. PMID 26378256, Free PMC Article
    3. Genome-wide association study of recurrent early-onset major depressive disorder. Shi J, et al. Mol Psychiatry, 2011 Feb. PMID 20125088, Free PMC Article
    4. Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9. Simino J, et al. Front Genet, 2013. PMID 24376456, Free PMC Article
    5. FBXO22 promotes leukemogenesis by targeting BACH1 in MLL-rearranged acute myeloid leukemia. Zhu XN, et al. J Hematol Oncol, 2023 Feb 11. PMID 36774506, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2.
      Title: Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2.
    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

    EBI GWAS Catalog

    Description
    Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.
    EBI GWAS Catalog
    Genome-wide association study of recurrent early-onset major depressive disorder.
    EBI GWAS Catalog

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in microtubule cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of supramolecular fiber organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasmic microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    TOG array regulator of axonemal microtubules protein 2
    Names
    crescerin-2
    family with sequence similarity 179 member A
    protein FAM179A

    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_001321538.3 → NP_001308467.1  TOG array regulator of axonemal microtubules protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC105398
      UniProtKB/TrEMBL
      B4DLF7
      Conserved Domains (1) summary
      pfam12348
      Location:448 → 623
      CLASP_N; CLASP N terminal

    2. NM_001321539.3 → NP_001308468.1  TOG array regulator of axonemal microtubules protein 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC105398
      UniProtKB/TrEMBL
      B4DLF7
      Conserved Domains (1) summary
      pfam12348
      Location:345 → 487
      CLASP_N; CLASP N terminal

    3. NM_199280.4 → NP_954974.2  TOG array regulator of axonemal microtubules protein 2 isoform 1

      See identical proteins and their annotated locations for NP_954974.2

      Status: VALIDATED

      Source sequence(s)
      AC105398
      Consensus CDS
      CCDS1769.2
      UniProtKB/Swiss-Prot
      Q6ZUF5, Q6ZUX3
      UniProtKB/TrEMBL
      B4DLF7
      Related
      ENSP00000368876.3, ENST00000379558.5
      Conserved Domains (1) summary
      pfam12348
      Location:503 → 678
      CLASP_N; CLASP N terminal

    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
      28956518..29052230
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443568.1 → XP_047299524.1  TOG array regulator of axonemal microtubules protein 2 isoform X2

      UniProtKB/Swiss-Prot
      Q6ZUF5, Q6ZUX3
      UniProtKB/TrEMBL
      B4DLF7

    2. XM_047443570.1 → XP_047299526.1  TOG array regulator of axonemal microtubules protein 2 isoform X4

    3. XM_047443574.1 → XP_047299530.1  TOG array regulator of axonemal microtubules protein 2 isoform X7

      UniProtKB/TrEMBL
      B4DLF7

    4. XM_047443566.1 → XP_047299522.1  TOG array regulator of axonemal microtubules protein 2 isoform X1

      UniProtKB/TrEMBL
      B4DLF7

    5. XM_047443569.1 → XP_047299525.1  TOG array regulator of axonemal microtubules protein 2 isoform X3

      UniProtKB/TrEMBL
      B4DLF7

    6. XM_047443572.1 → XP_047299528.1  TOG array regulator of axonemal microtubules protein 2 isoform X5

    7. XM_011532628.3 → XP_011530930.1  TOG array regulator of axonemal microtubules protein 2 isoform X8

      Conserved Domains (1) summary
      pfam12348
      Location:503 → 671
      CLASP_N; CLASP N terminal

    8. XM_047443576.1 → XP_047299532.1  TOG array regulator of axonemal microtubules protein 2 isoform X10

    9. XM_047443567.1 → XP_047299523.1  TOG array regulator of axonemal microtubules protein 2 isoform X1

      UniProtKB/TrEMBL
      B4DLF7

    10. XM_047443573.1 → XP_047299529.1  TOG array regulator of axonemal microtubules protein 2 isoform X6

      UniProtKB/TrEMBL
      B4DLF7

    11. XM_047443575.1 → XP_047299531.1  TOG array regulator of axonemal microtubules protein 2 isoform X9

    12. XM_047443577.1 → XP_047299533.1  TOG array regulator of axonemal microtubules protein 2 isoform X11

    RNA

    1. XR_939670.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      29000095..29095689
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340858.1 → XP_054196833.1  TOG array regulator of axonemal microtubules protein 2 isoform X2

      UniProtKB/TrEMBL
      B4DLF7

    2. XM_054340859.1 → XP_054196834.1  TOG array regulator of axonemal microtubules protein 2 isoform X4

    3. XM_054340861.1 → XP_054196836.1  TOG array regulator of axonemal microtubules protein 2 isoform X7

      UniProtKB/TrEMBL
      B4DLF7

    4. XM_054340856.1 → XP_054196831.1  TOG array regulator of axonemal microtubules protein 2 isoform X1

      UniProtKB/TrEMBL
      B4DLF7

    5. XM_054340857.1 → XP_054196832.1  TOG array regulator of axonemal microtubules protein 2 isoform X1

      UniProtKB/TrEMBL
      B4DLF7

    6. XM_054340860.1 → XP_054196835.1  TOG array regulator of axonemal microtubules protein 2 isoform X6

      UniProtKB/TrEMBL
      B4DLF7

    7. XM_054340862.1 → XP_054196837.1  TOG array regulator of axonemal microtubules protein 2 isoform X9

    8. XM_054340863.1 → XP_054196838.1  TOG array regulator of axonemal microtubules protein 2 isoform X11

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZUX3.2 GenPept UniProtKB/Swiss-Prot:Q6ZUX3

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