DEF8 (differentially expressed in FDCP 8 homolog)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
54849 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Differentially expressed in FDCP 8 homolog |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
DEF8 |
SynonymsGene synonyms aliases
|
- |
ChromosomeChromosome number
|
16 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
16q24.3 |
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0032418 |
Process |
Lysosome localization |
ISS |
|
GO:0035556 |
Process |
Intracellular signal transduction |
IEA |
|
GO:0045780 |
Process |
Positive regulation of bone resorption |
ISS |
|
GO:0046872 |
Function |
Metal ion binding |
IEA |
|
GO:1900029 |
Process |
Positive regulation of ruffle assembly |
ISS |
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
Q6ZN54 |
Protein name |
Differentially expressed in FDCP 8 homolog (DEF-8) |
Protein function |
Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts. Involved in bone resorption. |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00130 |
C1_1 |
200 → 253 |
Phorbol esters/diacylglycerol binding domain (C1 domain) |
Domain |
PF13901 |
zf-RING_9 |
295 → 497 |
Putative zinc-RING and/or ribbon |
Domain |
|
Sequence |
|
Sequence length |
512 |
Interactions |
View interactions |
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Carcinoma |
Squamous cell carcinoma |
rs121912654, rs555607708, rs786202962, rs1564055259 |
26908436, 26829030 |
Melanoma |
melanoma |
rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050 |
21926416 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Vitiligo |
Vitiligo |
|
27723757 |
|
|
|
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