IMPG2
entrez
50939
canonical
uniprot
Q9BZV3
canonical
ensembl
ENSG00000081148
resolver
ensp
ENSP00000193391
resolver
enst
ENST00000193391
resolver
genesymbol
IMPG2
resolver
genesymbol_syn
IPM200
resolver
hgnc
HGNC:18362
resolver
uniprot
A8MWT5
resolver
uniprot
F1T0J3
resolver
uniprot
Q9UKD4
resolver
uniprot
Q9UKK5
resolver
uniprot_entry
F1T0J3_HUMAN
resolver
uniprot_entry
IMPG2_HUMAN
resolver
uniprot_sec
A8MWT5
resolver
uniprot_sec
Q9UKD4
resolver
uniprot_sec
Q9UKK5
resolver
amino_acid_sequence
MIMFPLFGKISLGILIFVLIEGDFPSLTAQTYLSIEEIQEPKSAVSFLLPEESTDLSLATKKKQPLDRRETERQWLIRRRRSILFPNGVKICPDESVAEAVANHVKYFKVRVCQEAVWEAFRTFWDRLPGREEYHYWMNLCEDGVTSIFEMGTNFSESVEHRSLIMKKLTYAKETVSSSELSSPVPVGDTSTLGDTTLSVPHPEVDAYEGASESSLERPEESISNEIENVIEEATKPAGEQIAEFSIHLLGKQYREELQDSSSFHHQHLEEEFISEVENAFTGLPGYKEIRVLEFRSPKENDSGVDVYYAVTFNGEAISNTTWDLISLHSNKVENHGLVELDDKPTVVYTISNFRDYIAETLQQNFLLGNSSLNPDPDSLQLINVRGVLRHQTEDLVWNTQSSSLQATPSSILDNTFQAAWPSADESITSSIPPLDFSSGPPSATGRELWSESPLGDLVSTHKLAFPSKMGLSSSPEVLEVSSLTLHSVTPAVLQTGLPVASEERTSGSHLVEDGLANVEESEDFLSIDSLPSSSFTQPVPKETIPSMEDSDVSLTSSPYLTSSIPFGLDSLTSKVKDQLKVSPFLPDASMEKELIFDGGLGSGSGQKVDLITWPWSETSSEKSAEPLSKPWLEDDDSLLPAEIEDKKLVLVDKMDSTDQISKHSKYEHDDRSTHFPEEEPLSGPAVPIFADTAAESASLTLPKHISEVPGVDDYSVTKAPLILTSVAISASTDKSDQADAILREDMEQITESSNYEWFDSEVSMVKPDMQTLWTILPESERVWTRTSSLEKLSRDILASTPQSADRLWLSVTQSTKLPPTTISTLLEDEVIMGVQDISLELDRIGTDYYQPEQVQEQNGKVGSYVEMSTSVHSTEMVSVAWPTEGGDDLSYTQTSGALVVFFSLRVTNMMFSEDLFNKNSLEYKALEQRFLELLVPYLQSNLTGFQNLEILNFRNGSIVVNSRMKFANSVPPNVNNAVYMILEDFCTTAYNTMNLAIDKYSLDVESGDEANPCKFQACNEFSECLVNPWSGEAKCRCFPGYLSVEERPCQSLCDLQPDFCLNDGKCDIMPGHGAICRCRVGENWWYRGKHCEEFVSEPVIIGITIASVVGLLVIFSAIIYFFIRTLQAHHDRSERESPFSGSSRQPDSLSSIENAVKYNPVYESHRAGCEKYEGPYPQHPFYSSASGDVIGGLSREEIRQMYESSELSREEIQERMRVLELYANDPEFAAFVREQQVEEV
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa 56 (RP56) [MIM:613581]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:20673862, ECO:0000269|PubMed:24876279}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Macular dystrophy, vitelliform, 5 (VMD5) [MIM:616152]: A form of macular dystrophy, a retinal disease in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea. Vitelliform macular dystrophies are characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. VMD5 features include late-onset moderate visual impairment and preservation of retinal pigment epithelium reflectivity. {ECO:0000269|PubMed:20673862, ECO:0000269|PubMed:25085631, ECO:0000269|PubMed:28644393}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Chondroitin sulfate- and hyaluronan-binding proteoglycan involved in the organization of interphotoreceptor matrix; may participate in the maturation and maintenance of the light-sensitive photoreceptor outer segment. Binds heparin. {ECO:0000269|PubMed:10702256}.
uniprot
proteins
mass_dalton
138621
uniprot
proteins
post_translational_modification
PTM: Highly glycosylated (N- and O-linked carbohydrates). {ECO:0000269|PubMed:10702256}.
uniprot
proteins
pubmed
10542133
uniprot
proteins
pubmed
10702256
uniprot
proteins
pubmed
11726612
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
20673862
uniprot
proteins
pubmed
24876279
uniprot
proteins
pubmed
25085631
uniprot
proteins
pubmed
28644393
uniprot
proteins
pubmed
29777959
uniprot
proteins
sequence_length
1241
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Photoreceptor outer segment membrane {ECO:0000269|PubMed:29777959}; Single-pass type I membrane protein {ECO:0000255}. Photoreceptor inner segment membrane {ECO:0000250|UniProtKB:Q80XH2}; Single-pass type I membrane protein {ECO:0000255}. Secreted, extracellular space, extracellular matrix, interphotoreceptor matrix {ECO:0000269|PubMed:10702256}.
uniprot
proteins
transmembrane_region
TRANSMEM 1100..1120; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins