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

Gene ID: 129852, updated on 27-Nov-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
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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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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

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