Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80232
Gene name Gene Name - the full gene name approved by the HGNC.
WD repeat domain 26
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
WDR26
Synonyms (NCBI Gene) Gene synonyms aliases
CDW2, GID7, MIP2, SKDEAS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SKDEAS
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q42.11-q42.12
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein com
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs150512167 A>C,G Pathogenic Missense variant, non coding transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs1553354926 C>A Pathogenic Stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1553354952 C>T Likely-pathogenic Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1553354956 A>C Likely-pathogenic Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1553354980 AT>- Pathogenic Coding sequence variant, genic downstream transcript variant, frameshift variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT021671 hsa-miR-140-3p Sequencing 20371350
MIRT028144 hsa-miR-93-5p Sequencing 20371350
MIRT031263 hsa-miR-19b-3p Sequencing 20371350
MIRT052146 hsa-let-7b-5p CLASH 23622248
MIRT049756 hsa-miR-92a-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex IDA 29911972
GO:0005515 Function Protein binding IPI 17510365, 27098453
GO:0005634 Component Nucleus IDA 29911972
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IDA 15378603
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617424 21208 ENSG00000162923
Protein
UniProt ID Q9H7D7
Protein name WD repeat-containing protein 26 (CUL4- and DDB1-associated WDR protein 2) (Myocardial ischemic preconditioning up-regulated protein 2)
Protein function G-beta-like protein involved in cell signal transduction (PubMed:15378603, PubMed:19446606, PubMed:22065575, PubMed:23625927, PubMed:26895380, PubMed:27098453). Acts as a negative regulator in MAPK signaling pathway (PubMed:15378603). Functions
PDB 8QBN , 8QE8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17814 LisH_TPL 125 153 Domain
PF00400 WD40 345 383 WD domain, G-beta repeat Repeat
PF00400 WD40 391 431 WD domain, G-beta repeat Repeat
PF00400 WD40 435 509 WD domain, G-beta repeat Repeat
PF00400 WD40 560 599 WD domain, G-beta repeat Repeat
PF00400 WD40 603 641 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Broadly expressed, with highest levels in heart and skeletal muscle. {ECO:0000269|PubMed:15378603}.
Sequence
MQANGAGGGGGGGGGGGGGGGGGGGQGQTPELACLSAQNGESSPSSSSSAGDLAHANGLL
PSAPSAASNNSNSLNVNNGVPGGAAAASSATVAAASATTAASSSLATPELGSSLKKKKRL
SQSDEDVIRLIGQHLNGLGLNQTVDLLMQESGCRLEHPSATKFRNHVMEGDWDKAENDLN
ELKPLVHSPHAIVVRGALEISQTLLGIIVRMKFLLLQQKYLEYLEDGKVLEALQVLRCEL
TPLKYNTERIHVLSGYLMCSHAEDLRAKAEWEGKGTASRSKLLDKLQTYLPPSVMLPPRR
LQTLLRQAVELQRDRCLYHNTKLDNNLDSVSLLIDHVCSRRQFPCYTQQILTEHCNEVWF
CKFSNDGTKLATGSKDTTVIIWQ
VDPDTHLLKLLKTLEGHAYGVSYIAWSPDDNYLVACG
PDDCSELWLWN
VQTGELRTKMSQSHEDSLTSVAWNPDGKRFVTGGQRGQFYQCDLDGNLL
DSWEGVRVQCLWCLSDGKTVLASDTHQRI
RGYNFEDLTDRNIVQEDHPIMSFTISKNGRL
ALLNVATQGVHLWDLQDRVLVRKYQGVTQGFYTIHSCFGGHNEDFIASGSEDHKVYIWHK
RSELPIAELTGHTRTVNCVSWNPQIPSMMASASDDGTVRIWGPAPFIDHQNIEEECSSMD
S
Sequence length 661
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
28921851
Multiple congenital anomalies Multiple congenital anomalies rs1057517732 28686853
Skraban-deardorff syndrome SKRABAN-DEARDORFF SYNDROME rs1553354926, rs1553354980, rs1553353378, rs1553359034, rs1553359384, rs150512167, rs1553354952, rs1553354956, rs1572163072, rs1572168244, rs1572227260 28686853, 28921851
Unknown
Disease term Disease name Evidence References Source
Otitis media Recurrent otitis media ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Aphasia Associate 33506510
Cerebral Infarction Inhibit 32354168
Congenital Abnormalities Associate 33506510
Developmental Disabilities Associate 33675273, 35627197
Gait Ataxia Associate 33506510
Gait Disorders Neurologic Associate 28686853
Genetic Diseases Inborn Associate 32030560, 33678339
Intellectual Disability Associate 28686853, 33675273, 35627197, 38575527
Iridogoniodysgenesis and skeletal anomalies Associate 33675273
Muscle Hypotonia Associate 33506510