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 Optic Atrophy 3, Autosomal Dominant and Ulcerative Stomatitis. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is MAPKBP1.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH18J056650 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 600.7 | +0.5 | 483 | 3.6 | CEBPG PRDM10 ZNF629 TFE3 RFX1 SIX5 LEF1 IKZF1 NFKBIZ ZNF692 | TXNL1 WDR7 lnc-FECH-3 piR-50443-186 BOD1L2 | |
GH18J057050 | Enhancer | 1 | Ensembl ENCODE | 8.8 | +400.0 | 400006 | 2.3 | CTCF IKZF1 RELA PKNOX1 REST RAD21 TCF12 IKZF2 SP1 HDAC1 | LOC105372136 ST8SIA3 WDR7 LC027889 BOD1L2 TXNL1 | |
GH18J056197 | Enhancer | 0.7 | Ensembl ENCODE | 9.9 | -451.6 | -451629 | 7.4 | POLR2A MAFF MAFK NR2F2 JUN MAX ATF7 SMARCA4 ZNF781 ZNF24 | WDR7 TCF4 lnc-WDR7-10 piR-38245-002 | |
GH18J057002 | Enhancer | 0.9 | Ensembl ENCODE | 5.8 | +352.9 | 352858 | 3.6 | PRDM1 POLR2A IKZF2 PKNOX1 ARID3A DPF2 RELB RUNX3 ESR1 ZSCAN5C | WDR7 WDR7-OT1 ENSG00000212539 BOD1L2 TXNL1 | |
GH18J057024 | Enhancer | 0.3 | Ensembl | 11.9 | +373.6 | 373557 | 0.6 | ZBTB20 SPI1 | WDR7 WDR7-OT1 ENSG00000212539 BOD1L2 TXNL1 |
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 | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002244 | hematopoietic progenitor cell differentiation | 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 |
---|---|---|---|---|---|
708728 | Benign: not provided | 57,027,102(+) | C/A | SYNONYMOUS_VARIANT | |
755299 | Likely Benign: not provided | 56,695,002(+) | T/C | SYNONYMOUS_VARIANT | |
760224 | Benign: not provided | 56,924,025(+) | T/C | SYNONYMOUS_VARIANT | |
770452 | Benign: not provided | 56,779,504(+) | C/T | SYNONYMOUS_VARIANT | |
777896 | Benign: not provided | 56,685,981(+) | G/A | SYNONYMOUS_VARIANT |
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 |
---|---|---|
optic atrophy 3, autosomal dominant |
|
|
ulcerative stomatitis |
|
|