Ensembl ID:
Human Orthologues:
Human Descriptions:
EGF-containing fibulin-like extracellular matrix protein 1 [Source:HGNC Symbol;Acc:3218]
EGF-containing fibulin-like extracellular matrix protein 2 [Source:HGNC Symbol;Acc:3219]
fibulin 5 [Source:HGNC Symbol;Acc:3602]
Mouse Orthologues:
Efemp1, Efemp2, Fbln5
Mouse Descriptions:
epidermal growth factor-containing fibulin-like extracellular matrix protein 1 Gene [Source:MGI Symb
epidermal growth factor-containing fibulin-like extracellular matrix protein 2 Gene [Source:MGI Symb
fibulin 5 Gene [Source:MGI Symbol;Acc:MGI:1346091]


There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa24063 Nonsense Mutation detected in F1 DNA During 2018

Mutation Details

Allele Name:
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
We currently estimate that this allele will be available during 2018.
T > A
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000125020 Nonsense 147 193 4 4
Genomic Location (Zv9):
Chromosome 22 (position 4162761)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 4196021
GRCz11 22 4581386
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
Flanking Sequence:
Associated Phenotype:
Not determined


This gene's human homologue has been identified in the following GWAS studies:

  • Amyotrophic lateral sclerosis: Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. (View Study)
  • Height: A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. (View Study)
  • Height: A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. (View Study)
  • Height: Genome-wide association analysis identifies 20 loci that influence adult height. (View Study)
  • Height: Genome-wide association study of height and body mass index in Australian twin families. (View Study)
  • Height: Hundreds of variants clustered in genomic loci and biological pathways affect human height. (View Study)
  • Height: Identification of 15 loci influencing height in a Korean population. (View Study)
  • Height: Many sequence variants affecting diversity of adult human height. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)


If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below: