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    EML6 EMAP like 6 [ Homo sapiens (human) ]

    Gene ID: 400954, updated on 5-Mar-2024

    Summary

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    Official Symbol
    EML6provided by HGNC
    Official Full Name
    EMAP like 6provided by HGNC
    Primary source
    HGNC:HGNC:35412
    See related
    Ensembl:ENSG00000214595 AllianceGenome:HGNC:35412
    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
    Summary
    Predicted to enable microtubule binding activity. Predicted to be located in cytoplasm and microtubule. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in fat (RPKM 28.9), adrenal (RPKM 17.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2p16.1
    Exon count:
    46
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (54723552..54972025)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (54717662..54969215)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (54950799..55199161)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene spectrin beta, non-erythrocytic 1 Neighboring gene uncharacterized LOC124906008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15765 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:54856263-54856861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15766 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15767 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15768 Neighboring gene Sharpr-MPRA regulatory region 11587 Neighboring gene uncharacterized LOC105374653 Neighboring gene SPTBN1 antisense RNA 2 Neighboring gene Sharpr-MPRA regulatory region 11075 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:54925567-54926282 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11492 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11491 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15769 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15770 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:55005745-55005892 Neighboring gene EML6 antisense RNA 1 Neighboring gene RNA, U7 small nuclear 81 pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:55130773-55131972 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:55177255-55178454 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:55194629-55195622 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:55201598-55201799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15771 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11493 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15772 Neighboring gene RNA, U6 small nuclear 433, pseudogene Neighboring gene reticulon 4 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:55276593-55277405 Neighboring gene uncharacterized LOC105374662

    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. Common body mass index-associated variants confer risk of extreme obesity. Cotsapas C, et al. Hum Mol Genet, 2009 Sep 15. PMID 19553259, Free PMC Article
    2. Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium. Li Q, et al. Hum Genet, 2015 Feb. PMID 25367360, Free PMC Article
    3. The genetic architecture of economic and political preferences. Benjamin DJ, et al. Proc Natl Acad Sci U S A, 2012 May 22. PMID 22566634, Free PMC Article
    4. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. Yao Z, et al. Mol Cell, 2017 Jan 19. PMID 28065597, Free PMC Article
    5. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. Capalbo L, et al. Nat Commun, 2019 Oct 4. PMID 31586073, Free PMC Article

    See all (10) citations in PubMed

    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

    EBI GWAS Catalog

    Description
    Common body mass index-associated variants confer risk of extreme obesity.
    EBI GWAS Catalog
    Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
    EBI GWAS Catalog
    The genetic architecture of economic and political preferences.
    EBI GWAS Catalog

    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

    • FLJ16635, FLJ42562, DKFZp686G14111

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    echinoderm microtubule-associated protein-like 6
    Names
    EMAP-6
    echinoderm microtubule associated protein like 6

    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_001039753.4 → NP_001034842.2  echinoderm microtubule-associated protein-like 6

      See identical proteins and their annotated locations for NP_001034842.2

      Status: VALIDATED

      Source sequence(s)
      AC013414, AC093110, AC104781, KF510815
      Consensus CDS
      CCDS46286.1
      UniProtKB/Swiss-Prot
      A8MUB5, B6ZDG7, Q6ZMW3
      Related
      ENSP00000348842.6, ENST00000356458.8
      Conserved Domains (4) summary
      COG2319
      Location:48 → 464
      WD40; WD40 repeat [General function prediction only]
      pfam03451
      Location:2 → 48
      HELP; HELP motif
      sd00039
      Location:64 → 104
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:57 → 353
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    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
      54723552..54972025
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004098.3 → XP_016859587.1  echinoderm microtubule-associated protein-like 6 isoform X1

    2. XM_047444299.1 → XP_047300255.1  echinoderm microtubule-associated protein-like 6 isoform X2

    3. XM_047444300.1 → XP_047300256.1  echinoderm microtubule-associated protein-like 6 isoform X3

    4. XM_047444302.1 → XP_047300258.1  echinoderm microtubule-associated protein-like 6 isoform X4

    5. XM_047444315.1 → XP_047300271.1  echinoderm microtubule-associated protein-like 6 isoform X6

    6. XM_017004100.3 → XP_016859589.1  echinoderm microtubule-associated protein-like 6 isoform X5

    7. XM_017004102.2 → XP_016859591.1  echinoderm microtubule-associated protein-like 6 isoform X8

    8. XM_017004101.2 → XP_016859590.1  echinoderm microtubule-associated protein-like 6 isoform X7

    RNA

    1. XR_001738743.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      54717662..54969215
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342018.1 → XP_054197993.1  echinoderm microtubule-associated protein-like 6 isoform X2

    2. XM_054342017.1 → XP_054197992.1  echinoderm microtubule-associated protein-like 6 isoform X1

    3. XM_054342019.1 → XP_054197994.1  echinoderm microtubule-associated protein-like 6 isoform X3

    4. XM_054342020.1 → XP_054197995.1  echinoderm microtubule-associated protein-like 6 isoform X4

    5. XM_054342022.1 → XP_054197997.1  echinoderm microtubule-associated protein-like 6 isoform X6

    6. XM_054342021.1 → XP_054197996.1  echinoderm microtubule-associated protein-like 6 isoform X5

    7. XM_054342024.1 → XP_054197999.1  echinoderm microtubule-associated protein-like 6 isoform X8

    8. XM_054342023.1 → XP_054197998.1  echinoderm microtubule-associated protein-like 6 isoform X7

    RNA

    1. XR_008486371.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZMW3.2 GenPept UniProtKB/Swiss-Prot:Q6ZMW3

    Gene LinkOut

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

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