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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 complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is located in the chromosome 10q25-26 region, which is frequently deleted in gliomas and tumors of other tissues, and is disrupted by the t(10;19) translocation rearrangement in glioblastoma cells. The gene location suggests that it is a candidate gene for the tumor suppressor locus. [provided by RefSeq, Jul 2008]
WDR11 (WD Repeat Domain 11) is a Protein Coding gene. Diseases associated with WDR11 include Hypogonadotropic Hypogonadism 14 With Or Without Anosmia and Kallmann Syndrome.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA,IPI | 20887964 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005634 | nucleus | IEA,IDA | 29263200 |
GO:0005737 | cytoplasm | IDA | 20887964 |
GO:0005765 | lysosomal membrane | HDA | 17897319 |
GO:0005794 | Golgi apparatus | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006886 | intracellular protein transport | IDA | 29426865 |
GO:0007507 | heart development | ISS | -- |
GO:0008589 | regulation of smoothened signaling pathway | ISS | -- |
GO:0035264 | multicellular organism growth | ISS | -- |
GO:0060271 | cilium assembly | ISS | -- |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | WDR11 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BRWD2 31 |
|
OneToOne | |
WDR11 30 |
|
||||
Oppossum (Monodelphis domestica) |
Mammalia | WDR11 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | WDR11 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | WDR11 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Wdr11 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Wdr11 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | WDR11 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | WDR11 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | wdr11 30 |
|
||
Str.9308 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.2767 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | wdr11 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | Y110A7A.9 30 31 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G33530 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0137000 30 |
|
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
695194 | Likely Benign: not provided | 120,904,077(+) | G/A | MISSENSE_VARIANT | |
695236 | Likely Benign: not provided | 120,866,640(+) | G/A | MISSENSE_VARIANT | |
695246 | Benign: not provided | 120,905,902(+) | C/T | SYNONYMOUS_VARIANT | |
695247 | Benign: not provided | 120,904,106(+) | A/G | SYNONYMOUS_VARIANT | |
695275 | Benign: not provided | 120,885,909(+) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2759784 | CNV | loss | 17122850 |
esv3305638 | CNV | mobile element insertion | 20981092 |
esv3406416 | CNV | insertion | 20981092 |
esv3579148 | CNV | loss | 25503493 |
esv3624737 | CNV | gain | 21293372 |
nsv1043485 | CNV | loss | 25217958 |
nsv428239 | CNV | gain+loss | 18775914 |
nsv473863 | CNV | novel sequence insertion | 20440878 |
nsv525609 | CNV | loss | 19592680 |
nsv7573 | CNV | insertion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hypogonadotropic hypogonadism 14 with or without anosmia |
|
|
kallmann syndrome |
|
|
normosmic congenital hypogonadotropic hypogonadism |
|
|
hypogonadotropic hypogonadism 7 with or without anosmia |
|
|
pituitary stalk interruption syndrome |
|
|