Egfem1 Gene Detail

Summary

• Symbol
  Egfem1
• Name
  EGF-like and EMI domain containing 1
• Synonyms
  6130401L20Rik

• Feature Type
  protein coding gene
• IDs
  MGI:1922990
  NCBI Gene: 75740
• Alliance
  gene page
• Transcription Start Sites
  12 TSS

Location &
Maps

• Sequence Map
  Chr3:29136172-29745358 bp, + strand

  From Ensembl annotation of GRCm39
  

• View this region in JBrowse
  
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 3, 12.57 cM, cytoband A3
• Mapping Data
  2 experiments

Strain
Comparison

• SNPs within 2kb
  4115 from dbSNP Build 142
• Strain Annotations
  18

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1922990	protein coding gene	Chr3:29135695-29831923 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0027119	protein coding gene	Chr3:26505005-27142073 (+)
A/J	MGP_AJ_G0027079	protein coding gene	Chr3:26221671-26827298 (+)
AKR/J	MGP_AKRJ_G0027048	protein coding gene	Chr3:26609851-27214192 (+)
BALB/cJ	MGP_BALBcJ_G0027091	protein coding gene	Chr3:25900074-26509319 (+)
C3H/HeJ	MGP_C3HHeJ_G0026833	protein coding gene	Chr3:26649183-27262758 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027537	protein coding gene	Chr3:27946785-28619508 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024898	protein coding gene	Chr3:24209888-24772307 (+)
CAST/EiJ	MGP_CASTEiJ_G0026287	protein coding gene	Chr3:26503405-27111825 (+)
CBA/J	MGP_CBAJ_G0026811	protein coding gene	Chr3:28680448-29357426 (+)
DBA/2J	MGP_DBA2J_G0026945	protein coding gene	Chr3:25789680-26389623 (+)
FVB/NJ	MGP_FVBNJ_G0026913	protein coding gene	Chr3:25255749-25843428 (+)
LP/J	MGP_LPJ_G0027056	protein coding gene	Chr3:27182924-27814508 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026933	protein coding gene	Chr3:31241843-31923679 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027596	protein coding gene	Chr3:26344444-26967289 (+)
PWK/PhJ	MGP_PWKPhJ_G0026020	protein coding gene	Chr3:25280183-25880198 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025832	protein coding gene	Chr3:25832605-26460759 (+)
WSB/EiJ	MGP_WSBEiJ_G0026361	protein coding gene	Chr3:26390607-27031024 (+)

Homology

• Human Ortholog
  EGFEM1P, EGF like and EMI domain containing 1, pseudogene

• Vertebrate Orthologs
  3

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  EGFEM1P, EGF like and EMI domain containing 1, pseudogene
  
• Synonyms
  C3orf50, NCRNA00259
• Links
  HGNC:25149

  NCBI Gene ID: 93556

  UniProt: Q0D2K5

  
  
• Chr Location
  3q26.2; chr3:168249522-168830599 (+)  GRCh38

---

• Alliance of Genome Resources
  Egfem1 stringent orthology
  1 human;1 mouse;1 rat;1 zebrafish
  
• HCOP
  vertebrate homology predictions: EGFEM1P
• Gene Tree
  Egfem1
  

Human Diseases

• References
  1 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  5 phenotypes from 1 allele in 1 genetic background
  7 phenotype references
  

• All Mutations and Alleles
  5
• Endonuclease-mediated
  1
• Gene trapped
  1
• Radiation induced
  1
• Targeted
  2
• Genomic Mutations
  1 involving Egfem1
• Incidental Mutations
  Mutagenetix , APF
• Find Mice (IMSR)
  33 strains or lines available

Gene Ontology
(GO)
Classifications

• All GO Annotations
  1
• GO References
  1

Expression

• Assay Results
  706
• cDNA Data
  10

Tissue x Stage Matrix

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas

Interactions

• Egfem1 interacts with 173 markers (Mir7-1, Mir7-2, Mir7b, ...) View All

Sequences &
Gene Models

• All Sequences
  87
• RefSeq
  45
• UniProt
  6
• CCDS
  CCDS50881.1, CCDS50882.1

• Ensembl
  ENSMUSG00000063600 (Evidence)
• NCBI Gene
  75740

Representative Sequences			Length	Strain/Species
genomic	ENSMUSG00000063600	Ensembl Gene Model | MGI Sequence Detail	609187	C57BL/6J
transcript	ENSMUST00000119598	Ensembl | MGI Sequence Detail	2687	Not Applicable
polypeptide	ENSMUSP00000112943	Ensembl | MGI Sequence Detail	590	Not Applicable

Protein
Information

• UniProt
  6 Sequences
• Protein Ontology
  PR:000033519 EGF-like and EMI domain-containing protein 1
  (term hierarchy)
• InterPro Domains
  IPR018097 EGF-like calcium-binding, conserved site
  IPR001881 EGF-like calcium-binding domain
  IPR000742 EGF-like domain
  IPR000152 EGF-type aspartate/asparagine hydroxylation site
  IPR011489 EMI domain
  IPR009030 Growth factor receptor cysteine-rich domain superfamily

Molecular
Reagents

• All nucleic 10

  cDNA 10

  
  

  Microarray probesets 2

References

• Summaries
  All 25

  Diseases 1

  Gene Ontology 1

  Phenotypes 7
• Earliest
  J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
• Latest
  J:302829 Lu J, et al., Mouse models for human hyperuricaemia: a critical review. Nat Rev Rheumatol. 2019 Jul;15(7):413-426

TSS for Egfem1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr28665	Chr3:29136688-29136739 (+)	542 bp
Tssr28666	Chr3:29163950-29163956 (+)	27,781 bp
Tssr28667	Chr3:29208367-29208375 (+)	72,199 bp
Tssr28668	Chr3:29252917-29252919 (+)	116,746 bp
Tssr28669	Chr3:29290076-29290080 (+)	153,906 bp
Tssr28670	Chr3:29294571-29294574 (+)	158,401 bp
Tssr28671	Chr3:29315148-29315152 (+)	178,978 bp
Tssr851	Chr3:29322675-29322678 (+)	186,505 bp
Tssr28672	Chr3:29368874-29368883 (+)	232,707 bp
Tssr28673	Chr3:29432005-29432009 (+)	295,835 bp
Tssr28674	Chr3:29522048-29522053 (+)	385,879 bp
Tssr28675	Chr3:29596042-29596044 (+)	459,871 bp