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

Gene ID: 165186, updated on 2-Nov-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, Nov 2024]
Expression
Broad expression in lung (RPKM 1.7), spleen (RPKM 1.2) and 19 other tissues See more
Orthologs
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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 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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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

  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

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

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

  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

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

  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

  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

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

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

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

  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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