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EML6 EMAP like 6 [ Homo sapiens (human) ]

Gene ID: 400954, updated on 3-Nov-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, Nov 2024]
Expression
Ubiquitous expression in fat (RPKM 28.9), adrenal (RPKM 17.8) and 24 other tissues See more
Orthologs
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Genomic context

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See EML6 in Genome Data Viewer
Location:
2p16.1
Exon count:
46
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (54723552..54972025)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (54717662..54969215)
RS_2024_09 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 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. The RNA binding protein MEX3A promotes tumor progression of breast cancer by post-transcriptional regulation of IGFBP4. Chen W, et al. Breast Cancer Res Treat, 2023 Oct. PMID 37433992, Free PMC Article
  5. 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

See all (14) 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)

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_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
    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

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