EML2 EMAP like 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EML2provided by HGNC
Official Full Name: EMAP like 2provided by HGNC
Primary source: HGNC:HGNC:18035
See related: Ensembl:ENSG00000125746 MIM:617494; AllianceGenome:HGNC:18035
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
Summary: Enables microtubule binding activity. Involved in negative regulation of microtubule polymerization and regulation of microtubule nucleation. Colocalizes with mitotic spindle. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in esophagus (RPKM 8.7), skin (RPKM 8.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.32

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (45609400..45645629, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (48436666..48472895, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (46112658..46148887, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EML2-S constitutes a new class of proteins that recognizes and regulates the dynamics of tyrosinated microtubules.
Title: EML2-S constitutes a new class of proteins that recognizes and regulates the dynamics of tyrosinated microtubules.
We have determined crystal structures of the coiled-coils from EML2 and EML4, which describe the structural basis of both EML self-association and oncogenic EML4-ALK activation.
Title: Microtubule association of EML proteins and the EML4-ALK variant 3 oncoprotein require an N-terminal trimerization domain.
Both EMAP II and CXCR3 were essentially required for gp120-induced lung microvascular endothelial cell apoptosis.
Title: HIV envelope protein gp120-induced apoptosis in lung microvascular endothelial cells by concerted upregulation of EMAP II and its receptor, CXCR3.

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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
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH48306 (e-PCR)
- UniSTS:46168

D1S1423 (e-PCR)
- UniSTS:149619

RH46541 (e-PCR)
- UniSTS:15051

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tubulin binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in microtubule cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of microtubule polymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of microtubule nucleation	IDA Inferred from Direct Assay more info	PubMed
involved_in sensory perception of sound	TAS Traceable Author Statement more info	PubMed
involved_in visual perception	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
part_of microtubule associated complex	TAS Traceable Author Statement more info	PubMed
colocalizes_with mitotic spindle	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with mitotic spindle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: echinoderm microtubule-associated protein-like 2

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

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)

NM_001193268.3 → NP_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)

AC006132, AC011480, AK296258

Consensus CDS

CCDS59399.1

UniProtKB/TrEMBL

B7Z2F5

Related

ENSP00000468312.1, ENST00000587152.6

Conserved Domains (4) summary

COG2319
Location:277 → 698

WD40; WD40 repeat [General function prediction only]

pfam03451
Location:220 → 292

HELP; HELP motif

sd00039
Location:627 → 659

7WD40; WD40 repeat [structural motif]

cl02567
Location:539 → 848

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 ...
NM_001193269.2 → NP_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)

AC006132, AF103939, AK295905

Consensus CDS

CCDS54280.1

UniProtKB/TrEMBL

B7Z2F5

Related

ENSP00000442365.1, ENST00000536630.5

Conserved Domains (4) summary

COG2319
Location:223 → 644

WD40; WD40 repeat [General function prediction only]

pfam03451
Location:166 → 238

HELP; HELP motif

sd00039
Location:573 → 605

7WD40; WD40 repeat [structural motif]

cl02567
Location:485 → 794

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 ...
NM_001352051.2 → NP_001338980.1 echinoderm microtubule-associated protein-like 2 isoform 4

Status: VALIDATED

Source sequence(s)

AF103939, AK026616, DC366776

Conserved Domains (2) summary

COG2319
Location:63 → 485

WD40; WD40 repeat [General function prediction only]

sd00039
Location:310 → 342

7WD40; WD40 repeat [structural motif]
NM_001352052.1 → NP_001338981.1 echinoderm microtubule-associated protein-like 2 isoform 5

Status: VALIDATED

Source sequence(s)

AF103939, AK295905, DC316305, DC317883

UniProtKB/TrEMBL

B7Z2F5

Conserved Domains (4) summary

COG2319
Location:276 → 697

WD40; WD40 repeat [General function prediction only]

sd00039
Location:626 → 658

7WD40; WD40 repeat [structural motif]

pfam03451
Location:219 → 291

HELP; HELP motif

cl25676
Location:655 → 746

WD40_4; Type of WD40 repeat
NM_001352053.2 → NP_001338982.1 echinoderm microtubule-associated protein-like 2 isoform 6

Status: VALIDATED

Source sequence(s)

AC006132, AF103939, AK295905, DA395373

UniProtKB/TrEMBL

B7Z2F5

Conserved Domains (4) summary

COG2319
Location:222 → 643

WD40; WD40 repeat [General function prediction only]

sd00039
Location:572 → 604

7WD40; WD40 repeat [structural motif]

pfam03451
Location:165 → 237

HELP; HELP motif

cl25676
Location:601 → 692

WD40_4; Type of WD40 repeat
NM_001352054.2 → NP_001338983.1 echinoderm microtubule-associated protein-like 2 isoform 7

Status: VALIDATED

Source sequence(s)

AF103939, AK296258, DA252154

Conserved Domains (4) summary

COG2319
Location:54 → 475

WD40; WD40 repeat [General function prediction only]

sd00039
Location:404 → 436

7WD40; WD40 repeat [structural motif]

pfam03451
Location:1 → 69

HELP; HELP motif

cl25676
Location:433 → 524

WD40_4; Type of WD40 repeat
NM_012155.4 → NP_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

Consensus CDS

CCDS12670.1

UniProtKB/Swiss-Prot

B7Z3I2, B7Z3Q9, K7ERL7, O95834, Q59EN8, Q8N5A2, Q9UG50

Related

ENSP00000245925.3, ENST00000245925.8

Conserved Domains (4) summary

COG2319
Location:76 → 497

WD40; WD40 repeat [General function prediction only]

pfam03451
Location:19 → 91

HELP; HELP motif

sd00039
Location:426 → 458

7WD40; WD40 repeat [structural motif]

cl02567
Location:338 → 647

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 ...