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EML2 echinoderm microtubule associated protein like 2 [ Homo sapiens (human) ]

Gene ID: 24139, updated on 5-Aug-2018

Summary

Official Symbol
EML2provided by HGNC
Official Full Name
echinoderm microtubule associated protein like 2provided by HGNC
Primary source
HGNC:HGNC:18035
See related
Ensembl:ENSG00000125746 MIM:617494; Vega:OTTHUMG00000182127
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
ELP70; EMAP2; EMAP-2
Expression
Ubiquitous expression in esophagus (RPKM 8.7), skin (RPKM 8.5) and 25 other tissues See more
Orthologs

Genomic context

See EML2 in Genome Data Viewer
Location:
19q13.32
Exon count:
27
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (45609396..45645629, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (46112658..46148775, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene OPA3, outer mitochondrial membrane lipid metabolism regulator Neighboring gene G protein-coupled receptor 4 Neighboring gene EML2 antisense RNA 1 Neighboring gene microRNA 330 Neighboring gene RNA, 7SL, cytoplasmic 836, pseudogene Neighboring gene gastric inhibitory polypeptide receptor Neighboring gene microRNA 642a Neighboring gene microRNA 642b

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env The interaction of CXCR4 with HIV-1 gp120 mediates gp120-induced upregulation of the CXCR3 and EMAP2 expression in human lung microvascular endothelial cells PubMed
env HIV-1 gp120-induced upregulation of CXCR3 and EMAP2 expression and apoptosis requires activation of p38 MAPK in human lung microvascular endothelial cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule binding IDA
Inferred from Direct Assay
more info
PubMed 
protein C-terminus binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor binding IEA
Inferred from Electronic Annotation
more info
 
tubulin binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
negative regulation of microtubule polymerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of microtubule nucleation IDA
Inferred from Direct Assay
more info
PubMed 
sensory perception of sound TAS
Traceable Author Statement
more info
PubMed 
visual perception TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
microtubule IEA
Inferred from Electronic Annotation
more info
 
microtubule associated complex TAS
Traceable Author Statement
more info
PubMed 
microtubule cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with mitotic spindle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
echinoderm microtubule-associated protein-like 2
Names
echinoderm MT-associated protein (EMAP)-like protein 70
microtubule-associated protein like echinoderm EMAP

NCBI Reference Sequences (RefSeq)

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_001193268.2NP_001180197.1  echinoderm microtubule-associated protein-like 2 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AF103939, AK296258, BC029304, DC317883
    Consensus CDS
    CCDS59399.1
    UniProtKB/Swiss-Prot
    O95834
    Related
    ENSP00000468312.1, OTTHUMP00000268469, ENST00000587152.5
    Conserved Domains (4) summary
    COG2319
    Location:277698
    WD40; WD40 repeat [General function prediction only]
    pfam03451
    Location:220292
    HELP; HELP motif
    sd00039
    Location:627659
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:539848
    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 ...
  2. NM_001193269.1NP_001180198.1  echinoderm microtubule-associated protein-like 2 isoform 3

    See identical proteins and their annotated locations for NP_001180198.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region which results in the use of a different start codon, compared to variant 1, and an isoform (3) with a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AF103939, AK295905
    Consensus CDS
    CCDS54280.1
    UniProtKB/Swiss-Prot
    O95834
    Related
    ENSP00000442365.1, OTTHUMP00000268468, ENST00000536630.5, OTTHUMT00000459609
    Conserved Domains (4) summary
    COG2319
    Location:223644
    WD40; WD40 repeat [General function prediction only]
    pfam03451
    Location:166238
    HELP; HELP motif
    sd00039
    Location:573605
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:485794
    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 ...
  3. NM_001352051.1NP_001338980.1  echinoderm microtubule-associated protein-like 2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AF103939, AK026616, DC299657, DC366776
    Conserved Domains (2) summary
    COG2319
    Location:63485
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:310342
    7WD40; WD40 repeat [structural motif]
  4. NM_001352052.1NP_001338981.1  echinoderm microtubule-associated protein-like 2 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AF103939, AK295905, DC316305, DC317883
    Conserved Domains (4) summary
    COG2319
    Location:276697
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:626658
    7WD40; WD40 repeat [structural motif]
    pfam03451
    Location:219291
    HELP; HELP motif
    cl25676
    Location:655746
    WD40_4; Type of WD40 repeat
  5. NM_001352053.1NP_001338982.1  echinoderm microtubule-associated protein-like 2 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AF103939, AK295905, DA395373
    Conserved Domains (4) summary
    COG2319
    Location:222643
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:572604
    7WD40; WD40 repeat [structural motif]
    pfam03451
    Location:165237
    HELP; HELP motif
    cl25676
    Location:601692
    WD40_4; Type of WD40 repeat
  6. NM_001352054.1NP_001338983.1  echinoderm microtubule-associated protein-like 2 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AF103939, AK296258, DA252154, DC299657
    Conserved Domains (4) summary
    COG2319
    Location:54475
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:404436
    7WD40; WD40 repeat [structural motif]
    pfam03451
    Location:169
    HELP; HELP motif
    cl25676
    Location:433524
    WD40_4; Type of WD40 repeat
  7. NM_012155.3NP_036287.1  echinoderm microtubule-associated protein-like 2 isoform 2

    See identical proteins and their annotated locations for NP_036287.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region which results in the use of a different start codon, compared to variant 1, and an isoform (2) with a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AF103939, DC299657, DC366776
    Consensus CDS
    CCDS12670.1
    UniProtKB/Swiss-Prot
    O95834
    Related
    ENSP00000245925.2, OTTHUMP00000268467, ENST00000245925.7
    Conserved Domains (4) summary
    COG2319
    Location:76497
    WD40; WD40 repeat [General function prediction only]
    pfam03451
    Location:1991
    HELP; HELP motif
    sd00039
    Location:426458
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:338647
    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 ...

RNA

  1. NR_147899.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AA352385, AF103939, AK296258, DC316305, DC317883
  2. NR_147900.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AF103939, AK296258, BC029304, DC317883
  3. NR_147901.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AF103939, AK295905, DC316305, DC317883
  4. NR_147902.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AA352385, AF103939, AK295905, DA395373
  5. NR_147903.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AF103939, AK295905, HY326766

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    45609396..45645629 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526694.2XP_011524996.1  echinoderm microtubule-associated protein-like 2 isoform X1

    Conserved Domains (4) summary
    COG2319
    Location:277666
    WD40; WD40 repeat [General function prediction only]
    pfam03451
    Location:220292
    HELP; HELP motif
    sd00039
    Location:595627
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:507816
    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 ...
  2. XM_011526695.2XP_011524997.1  echinoderm microtubule-associated protein-like 2 isoform X2

    Conserved Domains (4) summary
    COG2319
    Location:277653
    WD40; WD40 repeat [General function prediction only]
    pfam03451
    Location:220292
    HELP; HELP motif
    sd00039
    Location:582614
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:300643
    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 ...
  3. XM_024451445.1XP_024307213.1  echinoderm microtubule-associated protein-like 2 isoform X5

    Conserved Domains (2) summary
    COG2319
    Location:63485
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:310342
    7WD40; WD40 repeat [structural motif]
  4. XM_024451446.1XP_024307214.1  echinoderm microtubule-associated protein-like 2 isoform X5

    Conserved Domains (2) summary
    COG2319
    Location:63485
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:310342
    7WD40; WD40 repeat [structural motif]
  5. XM_011526700.2XP_011525002.1  echinoderm microtubule-associated protein-like 2 isoform X5

    Conserved Domains (2) summary
    COG2319
    Location:63485
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:310342
    7WD40; WD40 repeat [structural motif]
  6. XM_017026550.2XP_016882039.1  echinoderm microtubule-associated protein-like 2 isoform X3

  7. XM_011526701.2XP_011525003.1  echinoderm microtubule-associated protein-like 2 isoform X6

    Conserved Domains (2) summary
    COG2319
    Location:10416
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:241273
    7WD40; WD40 repeat [structural motif]
  8. XM_017026551.1XP_016882040.1  echinoderm microtubule-associated protein-like 2 isoform X4

RNA

  1. XR_001753648.2 RNA Sequence

  2. XR_001753642.1 RNA Sequence

  3. XR_001753650.1 RNA Sequence

  4. XR_001753645.1 RNA Sequence

  5. XR_001753652.2 RNA Sequence

    Related
    ENST00000588308.5
  6. XR_001753644.1 RNA Sequence

  7. XR_935786.1 RNA Sequence

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