EML4 - EMAP like 4 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 27436

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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
  • 400
  • 600
  • 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
Others EML4 NCBI