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    CIMIP6 ciliary microtubule inner protein 6 [ Homo sapiens (human) ]

    Gene ID: 129852, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CIMIP6provided by HGNC
    Official Full Name
    ciliary microtubule inner protein 6provided by HGNC
    Primary source
    HGNC:HGNC:26861
    See related
    Ensembl:ENSG00000177994 AllianceGenome:HGNC:26861
    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
    C2orf73
    Expression
    Restricted expression toward testis (RPKM 9.6) See more
    Orthologs
    mouse all
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    Genomic context

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    See CIMIP6 in Genome Data Viewer
    Location:
    2p16.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (54330884..54384193)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (54327057..54355776)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (54558021..54588718)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene acylphosphatase 2 Neighboring gene RNA, U7 small nuclear 172 pseudogene Neighboring gene uncharacterized LOC105374610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15758 Neighboring gene TSPY like 6 Neighboring gene uncharacterized LOC102724072 Neighboring gene NANOG hESC enhancer GRCh37_chr2:54711535-54712045 Neighboring gene NANOG hESC enhancer GRCh37_chr2:54724305-54724844 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:54725305-54725489 Neighboring gene C9orf85 pseudogene 1 Neighboring gene spectrin beta, non-erythrocytic 1 Neighboring gene SPTBN1 antisense RNA 1

    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. Uncovering structural themes across cilia microtubule inner proteins with implications for human cilia function. Andersen JS, et al. Nat Commun, 2024 Mar 27. PMID 38538594, Free PMC Article
    2. Identification of multi-SH3 domain-containing protein interactome in pancreatic cancer: a yeast two-hybrid approach. Thalappilly S, et al. Proteomics, 2008 Aug. PMID 18654987
    3. The functional landscape of Hsp27 reveals new cellular processes such as DNA repair and alternative splicing and proposes novel anticancer targets. Katsogiannou M, et al. Mol Cell Proteomics, 2014 Dec. PMID 25277244, Free PMC Article
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

    See all (6) 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

    • FLJ40298

    General protein information

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    Preferred Names
    uncharacterized protein C2orf73

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001100396.2 → NP_001093866.1  uncharacterized protein C2orf73 isoform 1

      See identical proteins and their annotated locations for NP_001093866.1

      Status: VALIDATED

      Source sequence(s)
      AC108929, AK097617, BC031669, BC126246
      Consensus CDS
      CCDS46285.1
      UniProtKB/Swiss-Prot
      A0AV79, A0AV81, Q8N5S3, Q8N7V4
      Related
      ENSP00000381631.2, ENST00000398634.7
      Conserved Domains (1) summary
      pfam15667
      Location:45 → 281
      GDWWSH; Protein of unknown function with motif GDWWSH

    2. NM_001369401.1 → NP_001356330.1  uncharacterized protein C2orf73 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC108929
      UniProtKB/TrEMBL
      B7ZM12, E7ENW1
      Related
      ENSP00000389570.1, ENST00000447328.5
      Conserved Domains (1) summary
      pfam15667
      Location:1 → 224
      GDWWSH; Protein of unknown function with motif GDWWSH

    3. NM_001369403.1 → NP_001356332.1  uncharacterized protein C2orf73 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC108929
      Conserved Domains (1) summary
      pfam15667
      Location:1 → 161
      GDWWSH; Protein of unknown function with motif GDWWSH

    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
      54330884..54384193
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443325.1 → XP_047299281.1  uncharacterized protein C2orf73 isoform X1

    2. XM_024452687.2 → XP_024308455.1  uncharacterized protein C2orf73 isoform X1

      Conserved Domains (1) summary
      pfam15667
      Location:103 → 340
      GDWWSH; Protein of unknown function with motif GDWWSH

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      54327057..54355776
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340494.1 → XP_054196469.1  uncharacterized protein C2orf73 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_173486.1: Suppressed sequence

      Description
      NM_173486.1: This RefSeq was permanently suppressed because it contains the wrong CDS, and the correct CDS would make it a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N5S3.3 GenPept UniProtKB/Swiss-Prot:Q8N5S3

    Gene LinkOut

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

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