Reviewed, UniProtKB/Swiss-Prot Q96CV9 (OPTN_HUMAN)

Names and origin

Protein names

Recommended name:
    Optineurin
Alternative name(s):
    Optic neuropathy-inducing protein
    E3-14.7K-interacting protein
    FIP-2
    Huntingtin-interacting protein L
    Huntingtin yeast partner L
    NEMO-related protein
    Transcription factor IIIA-interacting protein
      Short name=TFIIIA-IntP

Gene names

Name:	OPTN
Synonyms:	FIP2, GLC1E, HYPL, NRP

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	577 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Plays a neuroprotective role in the eye and optic nerve. Probably part of the TNF-alpha signaling pathway that can shift the equilibrium toward induction of cell death. May act by regulating membrane trafficking and cellular morphogenesis via a complex that contains Rab8 and hungtingtin (HD). May constitute a cellular target for adenovirus E3 14.7, an inhibitor of TNF-alpha functions, thereby affecting cell death. Ref.2
Subunit structure	Interacts with E3 14.7 kDa protein of group C human adenovirus. Interacts with HD. Interacts with Rab8 (RAB8A and/or RAB8B). Interacts with transcription factor IIIA (GTF3A). Ref.1 Ref.6 Ref.7 Ref.9
Subcellular location	Cytoplasm › perinuclear region. Golgi apparatus. Note: Found in the perinuclear region and associates with the Golgi apparatus. Ref.2 Ref.1 Ref.8
Tissue specificity	Present in acqueous humor of the eye (at protein level). Highly expressed in trabecular meshwork. Expressed nonpigmented ciliary epithelium, retina, brain, adrenal cortex, fetus, lymphocyte, fibroblast, skeletal muscle, heart, liver, brain and placenta. Ref.2 Ref.1
Induction	Upon TNF-alpha and interferon treatments. Ref.1 Ref.8 Ref.10 Ref.11
Post-translational modification	Phosphorylated. Phosphorylation is induced by phorbol esters and decreases its half-time. Ref.8 Ref.12
Involvement in disease	Defects in OPTN are the cause of primary open angle glaucoma type 1E (GLC1E) [MIM:137760]. Primary open angle glaucoma (POAG) is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. The disease is asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. Ref.2 Ref.14 Ref.15 Ref.17 Ref.18 Ref.19 Defects in OPTN are a cause of susceptibility to normal pressure glaucoma (NPG) [MIM:606657]. Ref.20
Caution	According to some authors (Ref.10) its expression is regulated by intraocular pressure, suggesting a protective role in case of high pressure, while according to other authors (Ref.11), it is not up-regulated in response to pressure elevation.
Sequence caution	The sequence CAI16552.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Cellular component	Cytoplasm Golgi apparatus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Glaucoma
Domain	Coiled coil
PTM	Phosphoprotein
Gene Ontology (GO)
Biological process	Golgi organization Inferred from mutant phenotype. Source: UniProtKB Golgi to plasma membrane protein transport Inferred from mutant phenotype. Source: UniProtKB cell death Ref.1 Traceable author statement. Source: ProtInc protein targeting to Golgi Inferred from mutant phenotype. Source: UniProtKB signal transduction Ref.1 Traceable author statement. Source: ProtInc
Cellular component	Golgi apparatus Inferred from direct assay. Source: UniProtKB perinuclear region of cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	protein C-terminus binding Inferred from physical interaction. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96CV9-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q96CV9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     210-215: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q96CV9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-57: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 577	577	Optineurin		PRO_0000058066
Regions
	Region	58 – 209	152	Interaction with Rab8
	Region	411 – 577	167	Interaction with HD
	Coiled coil	38 – 170	133	Potential
	Coiled coil	239 – 508	270	Potential
Amino acid modifications
	Modified residue	170	1	Phosphoserine Ref.12
	Modified residue	171	1	Phosphoserine Ref.12
	Modified residue	173	1	Phosphoserine Ref.12
	Modified residue	174	1	Phosphoserine Ref.12
	Modified residue	177	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	1 – 57	57	Missing in isoform 3.		VSP_013261
	Alternative sequence	210 – 215	6	Missing in isoform 2.		VSP_013262
	Natural variant	26	1	H → D in GLC1E. Ref.18 Ref.19		VAR_021537
	Natural variant	50	1	E → K in GLC1E. dbSNP rs28939688. Ref.2		VAR_021538
	Natural variant	98	1	M → K May modify intraocular pressure and increase risk of GLC1E and NPG; may be a common polymorphism. dbSNP rs11258194. Ref.2 Ref.18 Ref.13 Ref.16		VAR_021539
	Natural variant	103	1	E → D in GLC1E. Ref.14		VAR_021540
	Natural variant	201	1	P → S Ref.2 Ref.1 Ref.3		VAR_021541
	Natural variant	213	1	K → H Requires 2 nucleotide substitutions. Ref.2 Ref.1 Ref.3		VAR_021542
	Natural variant	216	1	S → R Ref.2 Ref.1 Ref.3		VAR_021543
	Natural variant	308	1	S → P: dbSNP rs7068431.		VAR_030769
	Natural variant	322	1	E → K: dbSNP rs523747. Ref.4		VAR_021544
	Natural variant	357	1	T → P Ref.2 Ref.1 Ref.3		VAR_021545
	Natural variant	486	1	H → R in GLC1E; juvenile onset. Ref.14 Ref.17		VAR_021546
	Natural variant	545	1	R → Q in GLC1E; could be a polymorphism. Ref.2 Ref.15 Ref.18		VAR_021547
Experimental info
	Sequence conflict	436	1	A → V in AAC26850. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 2BAF841BA515AAE2	FASTA	577	65,922
	10 20 30 40 50 60 MSHQPLSCLT EKEDSPSEST GNGPPHLAHP NLDTFTPEEL LQQMKELLTE NHQLKEAMKL 70 80 90 100 110 120 NNQAMKGRFE ELSAWTEKQK EERQFFEIQS KEAKERLMAL SHENEKLKEE LGKLKGKSER 130 140 150 160 170 180 SSEDPTDDSR LPRAEAEQEK DQLRTQVVRL QAEKADLLGI VSELQLKLNS SGSSEDSFVE 190 200 210 220 230 240 IRMAEGEAEG SVKEIKHSPG PTRTVSTGTA LSKYRSRSAD GAKNYFEHEE LTVSQLLLCL 250 260 270 280 290 300 REGNQKVERL EVALKEAKER VSDFEKKTSN RSEIETQTEG STEKENDEEK GPETVGSEVE 310 320 330 340 350 360 ALNLQVTSLF KELQEAHTKL SEAELMKKRL QEKCQALERK NSAIPSELNE KQELVYTNKK 370 380 390 400 410 420 LELQVESMLS EIKMEQAKTE DEKSKLTVLQ MTHNKLLQEH NNALKTIEEL TRKESEKVDR 430 440 450 460 470 480 AVLKELSEKL ELAEKALASK QLQMDEMKQT IAKQEEDLET MTILRAQMEV YCSDFHAERA 490 500 510 520 530 540 AREKIHEEKE QLALQLAVLL KENDAFEDGG RQSLMEMQSR HGARTSDSDQ QAYLVQRGAE 550 560 570 DRDWRQQRNI PIHSCPKCGE VLPDIDTLQI HVMDCII
	Isoform 2. Checksum: 7C15F88F8BDB3AEA	FASTA	571	65,203
	10 20 30 40 50 60 MSHQPLSCLT EKEDSPSEST GNGPPHLAHP NLDTFTPEEL LQQMKELLTE NHQLKEAMKL 70 80 90 100 110 120 NNQAMKGRFE ELSAWTEKQK EERQFFEIQS KEAKERLMAL SHENEKLKEE LGKLKGKSER 130 140 150 160 170 180 SSEDPTDDSR LPRAEAEQEK DQLRTQVVRL QAEKADLLGI VSELQLKLNS SGSSEDSFVE 190 200 210 220 230 240 IRMAEGEAEG SVKEIKHSPG PTRTVSTGTS RSADGAKNYF EHEELTVSQL LLCLREGNQK 250 260 270 280 290 300 VERLEVALKE AKERVSDFEK KTSNRSEIET QTEGSTEKEN DEEKGPETVG SEVEALNLQV 310 320 330 340 350 360 TSLFKELQEA HTKLSEAELM KKRLQEKCQA LERKNSAIPS ELNEKQELVY TNKKLELQVE 370 380 390 400 410 420 SMLSEIKMEQ AKTEDEKSKL TVLQMTHNKL LQEHNNALKT IEELTRKESE KVDRAVLKEL 430 440 450 460 470 480 SEKLELAEKA LASKQLQMDE MKQTIAKQEE DLETMTILRA QMEVYCSDFH AERAAREKIH 490 500 510 520 530 540 EEKEQLALQL AVLLKENDAF EDGGRQSLME MQSRHGARTS DSDQQAYLVQ RGAEDRDWRQ 550 560 570 QRNIPIHSCP KCGEVLPDID TLQIHVMDCI I
	Isoform 3. Checksum: 5B276FF6BEDD5271	FASTA	520	59,560
	10 20 30 40 50 60 MKLNNQAMKG RFEELSAWTE KQKEERQFFE IQSKEAKERL MALSHENEKL KEELGKLKGK 70 80 90 100 110 120 SERSSEDPTD DSRLPRAEAE QEKDQLRTQV VRLQAEKADL LGIVSELQLK LNSSGSSEDS 130 140 150 160 170 180 FVEIRMAEGE AEGSVKEIKH SPGPTRTVST GTALSKYRSR SADGAKNYFE HEELTVSQLL 190 200 210 220 230 240 LCLREGNQKV ERLEVALKEA KERVSDFEKK TSNRSEIETQ TEGSTEKEND EEKGPETVGS 250 260 270 280 290 300 EVEALNLQVT SLFKELQEAH TKLSEAELMK KRLQEKCQAL ERKNSAIPSE LNEKQELVYT 310 320 330 340 350 360 NKKLELQVES MLSEIKMEQA KTEDEKSKLT VLQMTHNKLL QEHNNALKTI EELTRKESEK 370 380 390 400 410 420 VDRAVLKELS EKLELAEKAL ASKQLQMDEM KQTIAKQEED LETMTILRAQ MEVYCSDFHA 430 440 450 460 470 480 ERAAREKIHE EKEQLALQLA VLLKENDAFE DGGRQSLMEM QSRHGARTSD SDQQAYLVQR 490 500 510 520 GAEDRDWRQQ RNIPIHSCPK CGEVLPDIDT LQIHVMDCII

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Interaction of an adenovirus E3 14.7-kilodalton protein with a novel tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains." Li Y., Kang J., Horwitz M.S. Mol. Cell. Biol. 18:1601-1610(1998) [PubMed: 9488477] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 3), VARIANTS SER-201; HIS-213; ARG-216 AND PRO-357, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION, INTERACTION WITH ADENOVIRUS E3. Tissue: Cervix carcinoma.
[2]	"Adult-onset primary open-angle glaucoma caused by mutations in optineurin." Rezaie T., Child A., Hitchings R., Brice G., Miller L., Coca-Prados M., Heon E., Krupin T., Ritch R., Kreutzer D., Crick R.P., Sarfarazi M. Science 295:1077-1079(2002) [PubMed: 11834836] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANTS GLC1E LYS-50 AND GLN-545, VARIANTS LYS-98; SER-201; HIS-213; ARG-216 AND PRO-357. Tissue: Trabecular meshwork.
[3]	"Human FIP-2: genomic structure and mutational analysis in ARVD patients." Li D., Roberts R. Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SER-201; HIS-213; ARG-216 AND PRO-357.
[4]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT LYS-322.
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Cervix and Skin.
[6]	"Huntingtin interacts with a family of WW domain proteins." Faber P.W., Barnes G.T., Srinidhi J., Chen J., Gusella J.F., MacDonald M.E. Hum. Mol. Genet. 7:1463-1474(1998) [PubMed: 9700202] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 412-555, INTERACTION WITH HD. Tissue: Testis.
[7]	"FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis." Hattula K., Peraenen J. Curr. Biol. 10:1603-1606(2000) [PubMed: 11137014] [Abstract] Cited for: INTERACTION WITH HD AND RAB8.
[8]	"Phorbol esters and cytokines regulate the expression of the NEMO-related protein, a molecule involved in a NF-kappa B-independent pathway." Schwamborn K., Weil R., Courtois G., Whiteside S.T., Israeel A. J. Biol. Chem. 275:22780-22789(2000) [PubMed: 10807909] [Abstract] Cited for: SUBCELLULAR LOCATION, INDUCTION, PHOSPHORYLATION.
[9]	"Identification of a transcription factor IIIA-interacting protein." Moreland R.J., Dresser M.E., Rodgers J.S., Roe B.A., Conaway J.W., Conaway R.C., Hanas J.S. Nucleic Acids Res. 28:1986-1993(2000) [PubMed: 10756201] [Abstract] Cited for: INTERACTION WITH GTF3A.
[10]	"Expression of optineurin, a glaucoma-linked gene, is influenced by elevated intraocular pressure." Vittitow J., Borras T. Biochem. Biophys. Res. Commun. 298:67-74(2002) [PubMed: 12379221] [Abstract] Cited for: INDUCTION.
[11]	"Optineurin gene expression level in human trabecular meshwork does not change in response to pressure elevation." Kamphuis W., Schneemann A. Ophthalmic Res. 35:93-96(2003) [PubMed: 12646749] [Abstract] Cited for: INDUCTION.
[12]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-170; SER-171; SER-173 AND SER-174, MASS SPECTROMETRY. Tissue: Epithelium.
[13]	"The M98K variant of the OPTINEURIN (OPTN) gene modifies initial intraocular pressure in patients with primary open angle glaucoma." Melki R., Belmouden A., Akhayat O., Brezin A., Garchon H.-J. J. Med. Genet. 40:842-844(2003) [PubMed: 14627677] [Abstract] Cited for: VARIANT LYS-98.
[14]	"Different optineurin mutation pattern in primary open-angle glaucoma." Leung Y.F., Fan B.J., Lam D.S.C., Lee W.S., Tam P.O.S., Chua J.K.H., Tham C.C.Y., Lai J.S.M., Fan D.S.P., Pang C.P. Invest. Ophthalmol. Vis. Sci. 44:3880-3884(2003) [PubMed: 12939304] [Abstract] Cited for: VARIANTS GLC1E ASP-103 AND ARG-486.
[15]	"Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma." Alward W.L.M., Kwon Y.H., Kawase K., Craig J.E., Hayreh S.S., Johnson A.T., Khanna C.L., Yamamoto T., Mackey D.A., Roos B.R., Affatigato L.M., Sheffield V.C., Stone E.M. Am. J. Ophthalmol. 136:904-910(2003) [PubMed: 14597044] [Abstract] Cited for: VARIANT GLC1E GLN-545.
[16]	"Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the blue mountains eye study." Baird P.N., Richardson A.J., Craig J.E., Mackey D.A., Rochtchina E., Mitchell P. Clin. Exp. Ophthalmol. 32:518-522(2004) [PubMed: 15498064] [Abstract] Cited for: VARIANT LYS-98.
[17]	"Defining the pathogenicity of optineurin in juvenile open-angle glaucoma." Willoughby C.E., Chan L.L.Y., Herd S., Billingsley G., Noordeh N., Levin A.V., Buys Y., Trope G., Sarfarazi M., Heon E. Invest. Ophthalmol. Vis. Sci. 45:3122-3130(2004) [PubMed: 15326130] [Abstract] Cited for: VARIANT GLC1E ARG-486.
[18]	"Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma." Funayama T., Ishikawa K., Ohtake Y., Tanino T., Kurosaka D., Kimura I., Suzuki K., Ideta H., Nakamoto K., Yasuda N., Fujimaki T., Murakami A., Asaoka R., Hotta Y., Tanihara H., Kanamoto T., Mishima H., Fukuchi T. , Abe H., Iwata T., Shimada N., Kudoh J., Shimizu N., Mashima Y. Invest. Ophthalmol. Vis. Sci. 45:4359-4367(2004) [PubMed: 15557444] [Abstract] Cited for: VARIANTS GLC1E ASP-26 AND GLN-545, VARIANT LYS-98.
[19]	"Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population." Fuse N., Takahashi K., Akiyama H., Nakazawa T., Seimiya M., Kuwahara S., Tamai M. J. Glaucoma 13:299-303(2004) [PubMed: 15226658] [Abstract] Cited for: VARIANT GLC1E ASP-26.
[20]	"Clinical relevance of optineurin sequence alterations in Japanese glaucoma patients." Umeda T., Matsuo T., Nagayama M., Tamura N., Tanabe Y., Ohtsuki H. Ophthalmic Genet. 25:91-99(2004) [PubMed: 15370540] [Abstract] Cited for: VARIANT NPG ASP-26.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF061034 mRNA. Translation: AAC16046.1. AF061034 mRNA. Translation: AAC16047.1. AF420371 mRNA. Translation: AAL76327.1. AF420372 mRNA. Translation: AAL76328.1. AF420373 mRNA. Translation: AAL76329.1. AF283527 , AF283520, AF283521, AF283522, AF283523, AF283524, AF283525, AF283526 Genomic DNA. Translation: AAG00497.1. AL355355 Genomic DNA. Translation: CAI16549.1. AL355355 Genomic DNA. Translation: CAI16550.1. AL355355 Genomic DNA. Translation: CAI16551.1. AL355355 Genomic DNA. Translation: CAI16552.1. Sequence problems. BC013876 mRNA. Translation: AAH13876.1. BC032762 mRNA. Translation: AAH32762.1. AF049614 mRNA. Translation: AAC26850.1.
IPI	IPI00304189. IPI00514792. IPI00554537.
RefSeq	NP_001008212.1. NP_001008213.1. NP_001008214.1. NP_068815.2.
UniGene	Hs.332706
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96CV9. 2 interactions.
PTM databases
PhosphoSite	Q96CV9.
Proteomic databases
PRIDE	Q96CV9.
Genome annotation databases
Ensembl	ENSG00000123240. Homo sapiens. [Contig view]
GeneID	10133.
KEGG	hsa:10133.
Organism-specific databases
GeneCards	GC10P013181.
H-InvDB	HIX0008651.
HGNC	HGNC:17142. OPTN.
HPA	CAB019303. HPA003279. HPA003360.
MIM	137760. phenotype. 602432. gene. 606657. phenotype.
Orphanet	98976. Glaucoma, congenital. 359. Glaucoma, hereditary.
PharmGKB	PA31948.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q96CV9.
Gene expression databases
ArrayExpress	Q96CV9.
Bgee	Q96CV9.
GermOnline	ENSG00000123240. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other Resources
NextBio	38327.
SOURCE	Search...

Entry information

Entry name

OPTN_HUMAN

Accession

Primary (citable) accession number: Q96CV9
Secondary accession number(s): Q5T672 , Q5T673, Q5T674, Q5T675, Q7LDL9, Q8N562, Q9UET9, Q9UEV4, Q9Y218

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 29, 2005
Last sequence update:	December 1, 2001
Last modified:	June 16, 2009
This is version 55 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)