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

Gene ID: 163747, updated on 2-Nov-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, Nov 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 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)

Genotypes

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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