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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. EFEMP1, EGF containing fibulin-like extracellular matrix protein 1
Sequence ID:NM_001039348
NM_001039349
NM_004105
RefSeqGene ID:NG_009098
Entrez Gene ID:2202
Ensembl ID:ENSG00000115380

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data

  • This gene is found in these cDNA libraries from the following tissue types:
    adrenal cortex, bone, bone marrow, brain, cartilage, cerebellum, cerebrum, cervix, colon, ear, embryonic tissue, endocrine, esophagus, eye, fetus, gastrointestinal tract, heart, kidney, liver, lung, lymph node, lymphoreticular, mammary gland, muscle, nervous, ovary, pancreas, pancreatic islet, parathyroid, peripheral nervous system, pituitary gland, placenta, pooled tissue, prostate, retina, salivary gland, skin, soft tissue, spleen, stem cell, stomach, synovium, t-cell, testis, thymus, thyroid, uncharacterized tissue, uterus, vascular
  • SAGE Anatomic Viewer
  • SAGE Digital Northern

  • Monochromatic SAGE/cDNA Virtual Northern

  • Two-dimensional array displays (similar expression pattern in NCI60 microarray data or SAGE data)

Associated Diseases (from OMIM)

DiseaseOther Genes
DOYNE HONEYCOMB DEGENERATION OF RETINA 

Cytogenetic Location (from UniGene)

Cytogenetic Location:2p16Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:2: 56094115 - 56145093

 Exon Info From UCSC:
NM_001039348
NM_001039349
NM_004105

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
4549067Full LengthBC014410EGF-containing fibulin-like extracellular matrix protein 1
30561133Full LengthBC098561EGF-containing fibulin-like extracellular matrix protein 1

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_001039348 NP_001034437 Q12805  
NM_001039349 NP_001034438    

Related Sequences

 
mRNAGenPeptSwissProt
U03877 AAA65590 Q12805
BC014410 AAH14410 Q12805
BC098561 AAH98561 Q12805
DQ892514 ABM83440  
DQ895728 ABM86654  
AB209212 BAD92449 Q59G97
AK290599 BAF83288 Q12805
AK293058 BAF85747 A8KAJ3
AK312639 BAG35523 B2R6M6
AK092854 BAG52615 B3KS53
AK301402 BAG62937 B4DW75
AK301531 BAG63032 B4DWH0

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens EFEMP1 NP_001034438 M.musculus Efemp1 216616 Gene Info NP_666127 95
R.norvegicus Efemp1 305604   NP_001012039 93

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)