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

Gene ID: 339778, updated on 10-Oct-2023

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
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Genomic context

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See CIMIP2C in Genome Data Viewer
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 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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