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    RIBC2 RIB43A domain with coiled-coils 2 [ Homo sapiens (human) ]

    Gene ID: 26150, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RIBC2provided by HGNC
    Official Full Name
    RIB43A domain with coiled-coils 2provided by HGNC
    Primary source
    HGNC:HGNC:13241
    See related
    Ensembl:ENSG00000128408 AllianceGenome:HGNC:13241
    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
    TRIB; C22orf11
    Summary
    Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 10.0) and bone marrow (RPKM 0.7) See more
    Orthologs
    mouse all
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    Genomic context

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    See RIBC2 in Genome Data Viewer
    Location:
    22q13.31
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (45413693..45432509)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (45898580..45917342)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (45809574..45828389)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13881 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45706877-45707685 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19227 Neighboring gene family with sequence similarity 118 member A Neighboring gene structural maintenance of chromosomes 1B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45809563-45810395 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45838232-45838794 Neighboring gene uncharacterized LOC107985537 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45872155-45872654 Neighboring gene uncharacterized LOC105373066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45895138-45895774

    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. A common variant rs2272804 in the 5'UTR of RIBC2 inhibits downstream gene expression by creating an upstream open reading frame. Xiong M, et al. Eur Rev Med Pharmacol Sci, 2020 Apr. PMID 32329860
    2. Genomic structure and expression analysis of the mouse testis-specific ribbon protein (Trib) gene. Arango NA, et al. Gene, 2004 Dec 8. PMID 15563848
    3. Coordinated genomic control of ciliogenesis and cell movement by RFX2. Chung MI, et al. Elife, 2014. PMID 24424412, Free PMC Article
    4. RIPK4 activity in keratinocytes is controlled by the SCF(β-TrCP) ubiquitin ligase to maintain cortical actin organization. Tanghe G, et al. Cell Mol Life Sci, 2018 Aug. PMID 29435596, Free PMC Article
    5. SPACA9 is a lumenal protein of human ciliary singlet and doublet microtubules. Gui M, et al. Proc Natl Acad Sci U S A, 2022 Oct 11. PMID 36191189, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A common variant rs2272804 in the 5'UTR of RIBC2 inhibits downstream gene expression by creating an upstream open reading frame.
      Title: A common variant rs2272804 in the 5'UTR of RIBC2 inhibits downstream gene expression by creating an upstream open reading frame.
    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)

    Genotypes

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axonemal A tubule inner sheath ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in axonemal microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in axonemal microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus HDA PubMed 
    is_active_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    RIB43A-like with coiled-coils protein 2

    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_015653.5 → NP_056468.3  RIB43A-like with coiled-coils protein 2

      See identical proteins and their annotated locations for NP_056468.3

      Status: VALIDATED

      Source sequence(s)
      AK098586, AL021391, AL442116
      Consensus CDS
      CCDS14066.2
      UniProtKB/Swiss-Prot
      A0A087X0F7, Q6ICD0, Q9H4K1, Q9Y413
      Related
      ENSP00000483356.1, ENST00000614167.2
      Conserved Domains (1) summary
      pfam05914
      Location:8 → 382
      RIB43A

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      45413693..45432509
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028766.2 → XP_016884255.1  RIB43A-like with coiled-coils protein 2 isoform X3

    2. XM_005261524.5 → XP_005261581.1  RIB43A-like with coiled-coils protein 2 isoform X1

      See identical proteins and their annotated locations for XP_005261581.1

      UniProtKB/Swiss-Prot
      Q9H4K1
      Conserved Domains (1) summary
      pfam05914
      Location:1 → 309
      RIB43A; RIB43A

    3. XM_011530126.3 → XP_011528428.1  RIB43A-like with coiled-coils protein 2 isoform X2

      Conserved Domains (1) summary
      pfam05914
      Location:21 → 219
      RIB43A; RIB43A

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      45898580..45917342
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325524.1 → XP_054181499.1  RIB43A-like with coiled-coils protein 2 isoform X3

    2. XM_054325522.1 → XP_054181497.1  RIB43A-like with coiled-coils protein 2 isoform X1

    3. XM_054325523.1 → XP_054181498.1  RIB43A-like with coiled-coils protein 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H4K1.2 GenPept UniProtKB/Swiss-Prot:Q9H4K1

    Gene LinkOut

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

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