Free for academic non-profit institutions. Other users need a Commercial license
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) that 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. The encoded protein forms the beta subunit of rabconnectin-3 and binds directly with Rab3A GDP/GTP exchange protein and indirectly with Rab3A GDP/GTP activating protein; these proteins are regulators of Rab3 small G protein family members involved in control of the calcium-dependant exocytosis of neurotransmitters. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
WDR7 (WD Repeat Domain 7) is a Protein Coding gene. Diseases associated with WDR7 include Aleutian Mink Disease and Microphthalmia, Syndromic 10. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is TEP1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008021 | synaptic vesicle | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - |
ExUns: | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28a | · | 28b |
---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||
SP2: | |||||||||||
SP3: | |||||||||||
SP4: | |||||||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | WDR7 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | WDR7 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | WDR7 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | WDR7 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | WDR7 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Wdr7 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Wdr7 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | WDR7 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | WDR7 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | wdr7 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | CABZ01073424.1 31 |
|
OneToMany | |
WDR7 31 |
|
OneToMany | |||
wdr7 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Rbcn-3B 30 31 |
|
OneToMany | |
EG:86E4.3 32 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008003 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | rbc-2 30 31 |
|
OneToMany | |
Y54F10AM.9 32 |
|
|
|||
Y54F10AM.10 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs150350647 | Benign: not provided | 56,685,981(+) |
G/A NM_015285.2(WDR7):c.546G>A (p.Val182=) |
SYNONYMOUS | |
rs34219015 | Benign: not provided | 56,935,887(+) |
C/A NM_015285.2(WDR7):c.3813C>A (p.Ile1271=) |
SYNONYMOUS | |
rs34678096 | Benign: not provided | 56,779,504(+) |
C/T NM_015285.2(WDR7):c.3021C>T (p.Pro1007=) |
SYNONYMOUS | |
rs35111840 | Benign: not provided | 56,924,025(+) |
T/C NM_015285.2(WDR7):c.3630T>C (p.Thr1210=) |
SYNONYMOUS | |
rs535813096 | Likely Benign: not provided | 56,695,002(+) |
T/C NM_015285.2(WDR7):c.1161T>C (p.Asn387=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1898e59 | CNV | duplication | 20981092 |
dgv456e201 | CNV | deletion | 23290073 |
esv1004514 | CNV | insertion | 20482838 |
esv1419362 | CNV | insertion | 17803354 |
esv1508428 | CNV | insertion | 17803354 |
esv2661652 | CNV | deletion | 23128226 |
esv2717142 | CNV | deletion | 23290073 |
esv3302922 | CNV | tandem duplication | 20981092 |
esv3304911 | CNV | mobile element insertion | 20981092 |
esv3365210 | CNV | insertion | 20981092 |
esv3441392 | CNV | insertion | 20981092 |
esv3642616 | CNV | gain | 21293372 |
esv3642621 | CNV | loss | 21293372 |
nsv1055436 | CNV | loss | 25217958 |
nsv1056480 | CNV | gain | 25217958 |
nsv1065140 | CNV | loss | 25217958 |
nsv1152042 | CNV | deletion | 26484159 |
nsv2317 | CNV | insertion | 18451855 |
nsv471872 | CNV | novel sequence insertion | 20440878 |
nsv477541 | CNV | novel sequence insertion | 20440878 |
nsv510943 | OTHER | complex | 20534489 |
nsv516762 | CNV | loss | 19592680 |
nsv517361 | CNV | gain+loss | 19592680 |
nsv521938 | CNV | gain | 19592680 |
nsv524292 | CNV | loss | 19592680 |
nsv577020 | CNV | gain | 21841781 |
nsv817793 | CNV | gain | 17921354 |
nsv954968 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
aleutian mink disease |
|
|
microphthalmia, syndromic 10 |
|
|
ulcerative stomatitis |
|
|
optic atrophy 3, autosomal dominant |
|
|
retinitis pigmentosa 4 |
|
|