Interphotoreceptor Matrix Proteoglycan 2

Alternative Names

  • IMPG2
  • SPACRCAN
  • IPM200

Associated Diseases

Retinitis Pigmentosa 56
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OMIM Number

607056

NCBI Gene ID

50939

Uniprot ID

Q9BZV3

Length

98,030 bases

No. of Exons

19

No. of isoforms

1

Protein Name

Interphotoreceptor Matrix Proteoglycan 2

Molecular Mass

138621 Da

Amino Acid Count

1241

Genomic Location

chr3:101,222,545-101,320,574

Gene Map Locus
3q12.3

Description

The protein encoded by this gene binds chondroitin sulfate and hyaluronan and is a proteoglycan. The encoded protein plays a role in the organization of the interphotoreceptor matrix and may promote the growth and maintenance of the light-sensitive photoreceptor outer segment. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_016247.4:c.189dupUnited Arab EmiratesNC_000003.12:g.101319731dupPathogenicLikely PathogenicRetinitis Pigmentosa 56NG_028284.1:g.5847dup; NM_016247.4:c.189dup; NP_057331.2:p.Gln64ThrfsTer92058802149978976
NM_016247.4:c.2274G>A Saudi Arabiachr3:101244057PathogenicPathogenicRetinitis Pigmentosa 56NG_028284.1:g.81519G>A; NM_016247.4:c.2274G>A ; NP_057331.2:p.Trp758Ter786205564191180
NM_016247.4:c.3262C>TUnited Arab EmiratesNC_000003.12:g.101231117G>ALikely Pathogenic, PathogenicLikely PathogenicRetinitis Pigmentosa 56NG_028284.1:g.94459C>T; NM_016247.4:c.3262C>T; NP_057331.2:p.Arg1088Ter199867882143151
NM_016247.4:c.533+4_533+7delUnited Arab EmiratesNC_000003.12:g.101291475_101291478delPathogenicLikely PathogenicRetinitis Pigmentosa 56NG_028284.1:g.34101_34104del; NM_016247.4:c.533+4_533+7del; NP_057331.2:p.?1707008452813053
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