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    CIMAP2 ciliary microtubule associated protein 2 [ Homo sapiens (human) ]

    Gene ID: 163747, updated on 9-Dec-2024

    Summary

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    Official Symbol
    CIMAP2provided by HGNC
    Official Full Name
    ciliary microtubule associated protein 2provided by HGNC
    Primary source
    HGNC:HGNC:26854
    See related
    Ensembl:ENSG00000162398 MIM:616446; AllianceGenome:HGNC:26854
    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
    LEM; LEXM; C1orf177
    Summary
    Predicted to enable mitochondrial ribosome binding activity. Predicted to act upstream of or within positive regulation of cell population proliferation and positive regulation of oxidative phosphorylation. Predicted to be located in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in esophagus (RPKM 2.6), testis (RPKM 1.5) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CIMAP2 in Genome Data Viewer
    Location:
    1p32.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (54806063..54842252)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (54686281..54722525)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (55271736..55307925)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:55229956-55230579 Neighboring gene prolyl-tRNA synthetase 2, mitochondrial Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55246797-55247339 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55247340-55247881 Neighboring gene uncharacterized LOC124904182 Neighboring gene tetratricopeptide repeat domain 22 Neighboring gene Sharpr-MPRA regulatory region 10932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55261394-55261933 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55261934-55262472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 923 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 924 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:55266799-55267564 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1067 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55277747-55278246 Neighboring gene uncharacterized LOC124904183 Neighboring gene MPRA-validated peak246 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55316729-55317230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55317231-55317730 Neighboring gene 24-dehydrocholesterol reductase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55348920-55349489 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:55352395-55352896 Neighboring gene DHCR24 divergent transcript

    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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    4. 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
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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

    • FLJ40201

    General protein information

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    Preferred Names
    ciliary microtubule-associated protein 2
    Names
    lymphocyte expansion molecule

    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_001110533.2 → NP_001104003.1  ciliary microtubule-associated protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001104003.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a longer and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC096536, AK097520, BC039109, BU633253
      Consensus CDS
      CCDS44153.1
      UniProtKB/Swiss-Prot
      B7WPL2, Q3ZCV2, Q8N7Y9
      Related
      ENSP00000360320.3, ENST00000371273.4

    2. NM_152607.3 → NP_689820.2  ciliary microtubule-associated protein 2 isoform 1

      See identical proteins and their annotated locations for NP_689820.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the shorter isoform (1).
      Source sequence(s)
      AC096536, AK097520, BC039109, BC064142
      Consensus CDS
      CCDS599.1
      UniProtKB/Swiss-Prot
      Q3ZCV2
      Related
      ENSP00000350924.3, ENST00000358193.7

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      54806063..54842252
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017000481.2 → XP_016855970.1  ciliary microtubule-associated protein 2 isoform X2

    2. XM_017000480.2 → XP_016855969.1  ciliary microtubule-associated protein 2 isoform X1

    RNA

    1. XR_001737006.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      54686281..54722525
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334741.1 → XP_054190716.1  ciliary microtubule-associated protein 2 isoform X2

    2. XM_054334740.1 → XP_054190715.1  ciliary microtubule-associated protein 2 isoform X1

    RNA

    1. XR_008485939.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3ZCV2.4 GenPept UniProtKB/Swiss-Prot:Q3ZCV2

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