Multiple Epidermal Growth Factor-Like Domains 8

Alternative Names

  • MEGF8
  • Epidermal Growth Factor-Like 4
  • EGFL4

Associated Diseases

Carpenter Syndrome 2
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OMIM Number

604267

NCBI Gene ID

1954

Uniprot ID

Q7Z7M0

Length

53,131 bases

No. of Exons

42

No. of isoforms

2

Protein Name

Multiple epidermal growth factor-like domains protein 8

Molecular Mass

303100 Da

Amino Acid Count

2845

Genomic Location

chr19:42,325,635-42,378,765

Gene Map Locus
19q13.2

Description

The protein encoded by this gene is a single-pass type I membrane protein of unknown function that contains several EGF-like domains, Kelch repeats, and PSI domains. Defects in this gene are a cause of Carpenter syndrome 2. Two transcript variants encoding different isoforms have been found for this gene. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001271938.2:c.3550+3_3550+4dupSaudi ArabiaNC_000019.10:g.42353130_42353131dupUncertain SignificanceCarpenter Syndrome 2NG_033030.1:g.32522_32523dup; NM_001271938.2:c.3550+3_3550+4dup; NP_001258867.1:p.?
NM_001271938.2:c.7270-2A>GSaudi ArabiaNC_000019.10:g.42375505A>GLikely PathogenicCarpenter Syndrome 2NG_033030.1:g.54897A>G; NM_001271938.2:c.7270-2A>G; NP_001258867.1:p.?
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