Toggle navigation
About
What is Reactome ?
News
Team
Scientific Advisory Board
Editorial Calendar
Statistics
Our Logo
License Agreement
Disclaimer
Content
Table of Contents
DOIs
Data Schema
ORCID Integration Project
Docs
User Guide
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
Data Model
Computational inferred events
Linking to Us
Citing us
Tools
Pathway Browser
Analyze Data
Species Comparison
Analysis Service
Content Service
ReactomeFIViz
Advanced Data Search
Author/Reviewer Search
Site map
Community
Icon Library
Outreach
Events
Training
Publications
Partners
Papers Citing Us
Resources Guide
Download
About
What is Reactome ?
News
Team
Scientific Advisory Board
Editorial Calendar
Statistics
Our Logo
License Agreement
Disclaimer
Content
Table of Contents
DOIs
Data Schema
ORCID Integration Project
Docs
User Guide
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
Data Model
Computational inferred events
Linking to Us
Citing us
Tools
Pathway Browser
Analyze Data
Species Comparison
Analysis Service
Content Service
ReactomeFIViz
Advanced Data Search
Author/Reviewer Search
Site map
Community
Icon Library
Outreach
Events
Training
Publications
Partners
Papers Citing Us
Resources Guide
Download
Search ...
Go!
RDH12 Y226C
Stable Identifier
R-HSA-2471697
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
photoreceptor inner segment
Synonyms
Retinol dehydrogenase 12 ecNumber1.1.1.-/ecNumber, RDH12_HUMAN, RDH12 Tyr226Cys
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of signal transduction (Homo sapiens)
Diseases associated with visual transduction (Homo sapiens)
Retinoid cycle disease events (Homo sapiens)
Defective RDH12 does not reduce atRAL to atROL and causes LCA13 (Homo sapiens)
RDH12 mutants [photoreceptor inner segment] (Homo sapiens)
RDH12 Y226C [photoreceptor inner segment] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q96NR8 RDH12
Gene Names
RDH12, SDR7C2
Chain
chain:1-316
Reference Genes
BioGPS Gene:145226 RDH12
COSMIC (genes):RDH12 RDH12
CTD Gene:145226 RDH12
dbSNP Gene:145226 RDH12
ENSEMBL:ENSG00000139988 RDH12
HGNC:19977 RDH12
KEGG Gene (Homo sapiens):hsa:145226 RDH12
Monarch:145226 RDH12
NCBI Gene:145226 RDH12
OMIM:608830 RDH12
UCSC:Q96NR8 RDH12
Reference Transcript
RefSeq:NM_152443.2 RDH12
Other Identifiers
0004210377
11727251_at
145226
16785709
242998_at
63476_at
7975284
A0A0S2Z613
A_23_P37088
AAH25724
ALQ34323
BAB70811
BAG37849
CCDS9787
EAW80951
ENSG00000139988
ENSP00000267502
ENSP00000449079
ENST00000267502
ENST00000551171
EntrezGene:145226
GE80080
GO:0001523
GO:0004745
GO:0005515
GO:0005622
GO:0007601
GO:0016491
GO:0042572
GO:0045494
GO:0050896
GO:0052650
GO:0055114
GO:0060342
HGNC:19977
Hs.21299.0.A1_3p_at
Hs.415322
Hs.739915
ILMN_1792182
MIM:608830
MIM:612712
NM_152443
NP_689656
PF00106
PH_hs_0025012
PR00080
PR00081
RDH12
RDH12-201
RDH12-203
TC14000410.hg
uc001xjz.5
uc059cro.1
UPI0000071827
Participant Of
hasMember
RDH12 mutants [photoreceptor inner segment]
Other forms of this molecule
RDH12 Q189X [photoreceptor inner segment]
RDH12 H151N [photoreceptor inner segment]
RDH12 p.Ala269fsX270 [photoreceptor inner segment]
RDH12 A126V [photoreceptor inner segment membrane]
RDH12 [photoreceptor inner segment membrane]
Modified Residues
Name
L-tyrosine 226 replaced with L-cysteine
Coordinate
226
PsiMod HEY
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
L-tyrosine removal [MOD:01649]
A protein modification that effectively removes or replaces an L-tyrosine.
Disease
Name
Identifier
Synonyms
Leber congenital amaurosis
14791
Leber's disease, Leber's congenital amaurosis, AMAUROSIS CONGENITA OF LEBER I, Leber's disease, Leber's amaurosis (disorder)
Cross References
RefSeq
NP_689656.2
Brenda
1.1.1.105
,
1.1.1.300
GeneCards
Q96NR8
PRO
Q96NR8
Orphanet
15194
HMDB Protein
HMDBP03034
Interactors (2)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q93062-3 RBPMS
0.556
3
UniProt:Q93062 RBPMS
0.556
3
© 2018
Reactome