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    CIMIP2C ciliary microtubule inner protein 2C [ Homo sapiens (human) ]

    Gene ID: 339778, updated on 11-Apr-2024

    Summary

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    Official Symbol
    CIMIP2Cprovided by HGNC
    Official Full Name
    ciliary microtubule inner protein 2Cprovided by HGNC
    Primary source
    HGNC:HGNC:27938
    See related
    Ensembl:ENSG00000173557 AllianceGenome:HGNC:27938
    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
    C2orf70; FAM166C
    Summary
    Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis (RPKM 1.4), stomach (RPKM 0.9) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2p23.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (26562587..26579524)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (26601745..26618672)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (26785455..26802392)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15472 Neighboring gene dynein regulatory complex subunit 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26680500-26681070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26681071-26681640 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26683329-26684034 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:26685720-26686919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15473 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26703326-26703826 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26704893-26705698 Neighboring gene otoferlin Neighboring gene ReSE screen-validated silencer GRCh37_chr2:26712674-26712916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15474 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11274 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26728504-26729004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26734217-26735140 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:26744163-26744328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26759696-26760624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26760625-26761553 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26765926-26766660 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26780985-26781778 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26781779-26782571 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26785229-26785729 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26788976-26789481 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26799126-26799700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26813715-26814459 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26814460-26815203 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26821036-26821536 Neighboring gene calcium and integrin binding family member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26856058-26856598 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:26878417-26879132 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:26888285-26888441 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26892685-26893186 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:26894826-26895015 Neighboring gene Sharpr-MPRA regulatory region 9124 Neighboring gene ribosomal protein L37 pseudogene 11

    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. 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
    2. Proteomic characterization of the human sperm nucleus. de Mateo S, et al. Proteomics, 2011 Jul. PMID 21630459
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    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)

    Genotypes

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in axonemal A tubule inner sheath IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in axonemal microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    ciliary microtubule inner protein 2C
    Names
    UPF0573 protein C2orf70
    family with sequence similarity 166 member C
    protein FAM166C

    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_001105519.3 → NP_001098989.1  ciliary microtubule inner protein 2C isoform 1

      See identical proteins and their annotated locations for NP_001098989.1

      Status: VALIDATED

      Source sequence(s)
      AC015977, AC108070
      Consensus CDS
      CCDS42661.1
      UniProtKB/Swiss-Prot
      A6NJV1
      Related
      ENSP00000332875.3, ENST00000329615.4
      Conserved Domains (1) summary
      pfam10629
      Location:19 → 85
      DUF2475; Protein of unknown function (DUF2475)

    2. NM_001322426.2 → NP_001309355.1  ciliary microtubule inner protein 2C isoform 2

      Status: VALIDATED

      Source sequence(s)
      AA725022, BX114846, HY021315
      Consensus CDS
      CCDS82429.1
      UniProtKB/TrEMBL
      B8ZZ55
      Related
      ENSP00000386615.1, ENST00000409392.5
      Conserved Domains (1) summary
      pfam05760
      Location:28 → 150
      IER; Immediate early response protein (IER)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      26562587..26579524
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017003962.2 → XP_016859451.1  ciliary microtubule inner protein 2C isoform X1

      Conserved Domains (1) summary
      pfam09770
      Location:54 → 191
      PAT1; Topoisomerase II-associated protein PAT1

    2. XM_017003965.2 → XP_016859454.1  ciliary microtubule inner protein 2C isoform X5

      Conserved Domains (1) summary
      pfam05760
      Location:49 → 171
      IER; Immediate early response protein (IER)

    3. XM_017003964.2 → XP_016859453.1  ciliary microtubule inner protein 2C isoform X3

      Conserved Domains (1) summary
      pfam09770
      Location:33 → 170
      PAT1; Topoisomerase II-associated protein PAT1

    4. XM_017003966.2 → XP_016859455.1  ciliary microtubule inner protein 2C isoform X6

      Conserved Domains (1) summary
      pfam10629
      Location:31 → 90
      DUF2475; Protein of unknown function (DUF2475)

    5. XM_011532810.3 → XP_011531112.1  ciliary microtubule inner protein 2C isoform X4

      See identical proteins and their annotated locations for XP_011531112.1

      Conserved Domains (1) summary
      pfam10629
      Location:31 → 90
      DUF2475; Protein of unknown function (DUF2475)

    6. XM_047444117.1 → XP_047300073.1  ciliary microtubule inner protein 2C isoform X7

    7. XM_017003963.2 → XP_016859452.1  ciliary microtubule inner protein 2C isoform X2

      Conserved Domains (1) summary
      pfam09770
      Location:50 → 187
      PAT1; Topoisomerase II-associated protein PAT1

    8. XM_011532811.3 → XP_011531113.1  ciliary microtubule inner protein 2C isoform X4

      See identical proteins and their annotated locations for XP_011531113.1

      Conserved Domains (1) summary
      pfam10629
      Location:31 → 90
      DUF2475; Protein of unknown function (DUF2475)

    9. XM_047444118.1 → XP_047300074.1  ciliary microtubule inner protein 2C isoform X7

    RNA

    1. XR_007073116.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      26601745..26618672
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341714.1 → XP_054197689.1  ciliary microtubule inner protein 2C isoform X1

    2. XM_054341719.1 → XP_054197694.1  ciliary microtubule inner protein 2C isoform X5

    3. XM_054341716.1 → XP_054197691.1  ciliary microtubule inner protein 2C isoform X3

    4. XM_054341717.1 → XP_054197692.1  ciliary microtubule inner protein 2C isoform X4

    5. XM_054341721.1 → XP_054197696.1  ciliary microtubule inner protein 2C isoform X7

    6. XM_054341715.1 → XP_054197690.1  ciliary microtubule inner protein 2C isoform X2

    7. XM_054341718.1 → XP_054197693.1  ciliary microtubule inner protein 2C isoform X4

    8. XM_054341722.1 → XP_054197697.1  ciliary microtubule inner protein 2C isoform X7

    9. XM_054341720.1 → XP_054197695.1  ciliary microtubule inner protein 2C isoform X6

    RNA

    1. XR_008486355.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NJV1.1 GenPept UniProtKB/Swiss-Prot:A6NJV1

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