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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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