Gene Gene information from NCBI Gene database.
Entrez ID 80232
Gene name WD repeat domain 26
Gene symbol WDR26
Synonyms (NCBI Gene)
CDW2GID7MIP2SKDEAS
Chromosome 1
Chromosome location 1q42.11-q42.12
Summary 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.
10
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.
790
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex IDA 29911972
GO:0005515 Function Protein binding IPI 17510365, 27098453, 33961781, 34819669
GO:0005634 Component Nucleus IDA 29911972
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617424 21208 ENSG00000162923
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
77
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Pathogenic rs1673322799 RCV001260841
Intellectual disability, seizures, abnormal gait and distinctive facial features Pathogenic rs1553364018 RCV000578316
See cases Likely pathogenic rs2102912948 RCV001420298
Skraban-Deardorff syndrome Pathogenic; Likely pathogenic rs1673963444, rs2102905325, rs2102930594, rs2102897778, rs2102891563, rs2102926443, rs2102930403, rs2102930721, rs2102897826, rs2464747078, rs2464720371, rs2464784089, rs2464720512, rs2464681125, rs2464762597
View all (14 more)
RCV001336700
RCV001650486
RCV001785354
RCV001809246
RCV002227003
RCV002246813
RCV002246814
RCV002246815
RCV002272629
RCV002280298
RCV002283951
RCV002294545
RCV002465430
RCV003140437
RCV003985186
RCV000497821
RCV000498337
RCV000498946
RCV000497929
RCV000498483
RCV000497307
RCV000515492
RCV000515498
RCV000986557
RCV000986558
RCV001027701
RCV001196834
RCV001263021
RCV003224887
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Benign rs35958886 RCV005903280
Developmental disorder Likely benign rs543194934 RCV001843793
Long QT syndrome Uncertain significance rs796052140, rs796052210 RCV000190124
RCV000190242
Neurofibromatosis, type 1 Uncertain significance rs1227010883 RCV005626757
Associations from Text MiningDisease associations identified through Pubtator
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