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    CIMIP2A ciliary microtubule inner protein 2A [ Homo sapiens (human) ]

    Gene ID: 401565, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CIMIP2Aprovided by HGNC
    Official Full Name
    ciliary microtubule inner protein 2Aprovided by HGNC
    Primary source
    HGNC:HGNC:33818
    See related
    Ensembl:ENSG00000188163 AllianceGenome:HGNC:33818
    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
    HSD46; FAM166A
    Summary
    Predicted to be involved in flagellated sperm motility. Located in ciliary basal body. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in duodenum (RPKM 20.3), testis (RPKM 18.9) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CIMIP2A in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (137243599..137255122, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149481268..149488986, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (140138051..140142203, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene hESC enhancers GRCh37_chr9:140121623-140122123 and GRCh37_chr9:140122257-140122882 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140124150-140124650 Neighboring gene ring finger protein 224 Neighboring gene solute carrier family 34 member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20596 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20598 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20599 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140140021-140140814 Neighboring gene tubulin beta 4B class IVb Neighboring gene uncharacterized LOC124902316 Neighboring gene STPG3 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140149187-140150134 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140150135-140151082 Neighboring gene sperm-tail PG-rich repeat containing 3 Neighboring gene negative elongation factor complex member B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140157448-140158007 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140165697-140166196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29349 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20604 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20605 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20606 Neighboring gene torsin family 4 member A

    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. Structural specializations of the sperm tail. Leung MR, et al. Cell, 2023 Jun 22. PMID 37327785, Free PMC Article
    2. Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways. Sigg MA, et al. Dev Cell, 2017 Dec 18. PMID 29257953, Free PMC Article
    3. New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing. Basei FL, et al. Proteome Sci, 2015. PMID 25798074, Free PMC Article
    4. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528
    5. Proteomic characterization of the human sperm nucleus. de Mateo S, et al. Proteomics, 2011 Jul. PMID 21630459

    See all (9) citations in PubMed

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ40100

    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 ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    ciliary microtubule inner protein 2A
    Names
    family with sequence similarity 166 member A
    protein FAM166A

    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_001001710.3 → NP_001001710.1  ciliary microtubule inner protein 2A

      See identical proteins and their annotated locations for NP_001001710.1

      Status: VALIDATED

      Source sequence(s)
      AY604177
      Consensus CDS
      CCDS35186.1
      UniProtKB/Swiss-Prot
      A6NND9, Q6J272, Q8N830
      Related
      ENSP00000344729.4, ENST00000344774.6
      Conserved Domains (1) summary
      pfam10629
      Location:13 → 45
      DUF2475; Protein of unknown function (DUF2475)

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      137243599..137255122 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423396.1 → XP_047279352.1  ciliary microtubule inner protein 2A isoform X1

    2. XM_047423399.1 → XP_047279355.1  ciliary microtubule inner protein 2A isoform X1

    3. XM_047423398.1 → XP_047279354.1  ciliary microtubule inner protein 2A isoform X1

    4. XM_047423397.1 → XP_047279353.1  ciliary microtubule inner protein 2A isoform X1

    5. XM_024447551.2 → XP_024303319.1  ciliary microtubule inner protein 2A isoform X3

    6. XM_047423400.1 → XP_047279356.1  ciliary microtubule inner protein 2A isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      149481268..149488986 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362976.1 → XP_054218951.1  ciliary microtubule inner protein 2A isoform X1

    2. XM_054362975.1 → XP_054218950.1  ciliary microtubule inner protein 2A isoform X1

    3. XM_054362979.1 → XP_054218954.1  ciliary microtubule inner protein 2A isoform X5

    4. XM_054362977.1 → XP_054218952.1  ciliary microtubule inner protein 2A isoform X4

    5. XM_054362981.1 → XP_054218956.1  ciliary microtubule inner protein 2A isoform X3

    6. XM_054362980.1 → XP_054218955.1  ciliary microtubule inner protein 2A isoform X6

    7. XM_054362978.1 → XP_054218953.1  ciliary microtubule inner protein 2A isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6J272.1 GenPept UniProtKB/Swiss-Prot:Q6J272

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