1. Gene
  2. EML4 - EMAP like 4 Gene

EML4 - EMAP like 4 Gene

Homo sapiens

Also known as C2orf2; ELP120; EMAP-4; EMAPL4; ROPP120

Gene ID: 27436 | Gene type: protein coding

About EML4

Cytogenetic location: 2p21 Genomic coordinates (GRCh38): 2:42,169,353-42,332,548 (from NCBI)

This gene has 8 transcripts (splice variants), 212 orthologues, 9 paralogues and is associated with 96 phenotypes. Ubiquitous expression in appendix (RPKM 24.1), duodenum (RPKM 22.4) and 25 other tissues.

Summary

This gene is a member of the echinoderm microtubule associated protein-like family. The encoded WD-repeat protein may be involved in microtubule formation. Abnormal fusion of parts of this gene with portions of the anaplastic lymphoma receptor tyrosine kinase gene, which generates EML4-ALK fusion transcripts, is one of the primary mutations associated with non-small cell lung Cancer. Alternative splicing of this gene results in two transcript variants. [provided by RefSeq, Jan 2015]

EML4 Products(3)

mRNA Protein Name
NM_001145076.3 NP_001138548.2 echinoderm microtubule-associated protein-like 4 isoform b
NM_001410776.1 NP_001397705.1 echinoderm microtubule-associated protein-like 4 isoform c
NM_019063.5 NP_061936.3 echinoderm microtubule-associated protein-like 4 isoform a
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables alpha-tubulin binding IDA
IDA: Inferred from direct assay
31409757 GOA
enables beta-tubulin binding IDA
IDA: Inferred from direct assay
31409757 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25789526 GOA
Biological Process GO Annotation Evidence Reference Source
involved in attachment of spindle microtubules to kinetochore IMP
IMP: Inferred from mutant phenotype
25789526 GOA
involved in mitotic metaphase chromosome alignment IMP
IMP: Inferred from mutant phenotype
25789526 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
16890222 GOA
located in microtubule IDA
IDA: Inferred from direct assay
16890222 GOA
located in microtubule organizing center IDA
IDA: Inferred from direct assay
16890222 GOA
located in midbody IDA
IDA: Inferred from direct assay
25789526 GOA
located in mitotic spindle IDA
IDA: Inferred from direct assay
16890222 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EML4 Protein Structure

HELP

HELP: HELP motif (223 - 298)

WD40

WD40: WD domain, G-beta repeat (303 - 327)

WD40

WD40: WD domain, G-beta repeat (588 - 620)

WD40

WD40: WD domain, G-beta repeat (717 - 749)

WD40

WD40: WD domain, G-beta repeat (826 - 863)

  • 0
  • 200
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  • 800
  • 981 a.a.
Protein Preferred Names Protein Names

echinoderm microtubule-associated protein-like 4

echinoderm microtubule associated protein like 4

Related Diseases

Diseases Alias
Lymphoma

Lymphoid Cancer

Lymphomas

Lymphoid Cancers

Lymphoid Neoplasm

Lymphoma Nos

Nhl - [Non-Hodgkin Lymphoma]

Non-Hodgkin Lymphoma

Non-Hodgkin Lymphoma, Nos

Non-Hodgkin Malignant Lymphoma Nos

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Signet Ring Lung Adenocarcinoma
Nephroma

Benign Nephroma

Inflammatory Myofibroblastic Tumor

Inflammatory Fibrosarcoma

Anaplastic Large Cell Lymphoma

Alcl

Cd30 Positive Anaplastic Large Cell Lymphoma

Ki-1 Positive Anaplastic Large Cell Lymphoma

Primary Systemic Alcl

Sacl

Ki-1+ Anaplastic Large Cell Lymphoma

Lung Combined Large Cell Neuroendocrine Carcinoma

Combined Large Cell Neuroendocrine Carcinoma Of Lung

Pulmonary Combined Large Cell Neuroendocrine Carcinoma

Combined Large Cell Lung Neuroendocrine Carcinoma

Lung Non-Squamous Non-Small Cell Carcinoma

Non- Squamous Nsclc

Mesenchymal Cell Neoplasm

Benign Miscellaneous Mesenchymal Tumor

Mesenchymal Tumor

Mesenchymal Tumors

Congenital Fibrosarcoma

Infantile Fibrosarcoma

Childhood Fibrosarcoma

Pediatric Fibrosarcoma

Epithelioid Inflammatory Myofibroblastic Sarcoma
Pulmonary Adenocarcinoma In Situ

Bronchioalveolar Carcinoma

Occipital Lobe Neoplasm

Neoplasm Of Occipital Lobe

Malignant Neoplasm Of Occipital Lobe

Tumor Of Occipital Lobe

Lung Sarcomatoid Carcinoma

Sarcomatoid Carcinoma Of The Lung

Pulmonary Sarcomatoid Carcinoma

Congenital Mesoblastic Nephroma

Mesoblastic Nephroma

Nephroma, Mesoblastic

Lung Carcinoma In Situ
Pleomorphic Carcinoma
Thyroid Gland Hurthle Cell Carcinoma

Oncocytic Carcinoma Of The Thyroid

Thyroid Cancer, Hurthle Cell

Lung Large Cell Carcinoma

Large Cell Carcinoma Of Lung

Large Cell Lung Carcinoma

Large Cell Lung Cancer

Large Cell Carcinoma

Carcinoma, Large Cell

Carcinoma Large Cell

Fibrolamellar Carcinoma

Fibrolamellar Hepatocellular Carcinoma

Fhcc

Fibrolamellar Hepatocarcinoma

Hepatocellular Carcinoma, Fibrolamellar

Oncocytic Hepatocellular Tumor

Eosinophilic Glassy Cell Hepatoma

Eosinophilic Hepatocellular Carcinoma With Lamellar Fibrosis

Fl-Hcc

Fibrolamellar Oncocytic Hepatoma

Hepatocellular Carcinoma With Increased Stromal Fibrosis

Polygonal Cell Hepatocellular Carcinoma With Fibrous Stroma

Gastrointestinal Stromal Tumor

GIST

Gastrointestinal Stromal Tumors

Gastrointestinal Stromal Sarcoma

Gastrointestinal Stromal Tumor, Familial

Gant

Gastrointestinal Stromal Tumour

Stromal Tumor Of Gastrointestinal Tract

Stromal Tumour Of Gastrointestinal Tract

Gastrointestinal Stromal Neoplasm

Paraganglioma And Gastric Stromal Sarcoma

Plexosarcoma

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus EML4 MGD MGI:1926048
Felis catus EML4 VGNC VGNC:61851
Macaca mulatta EML4 VGNC VGNC:72037
Bos taurus EML4 VGNC VGNC:28478
Rattus norvegicus EML4 RGD RGD:1304690
Canis familiaris EML4 VGNC VGNC:40349