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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.
miRTarBase ID miRNA Experiments Reference
MIRT043288 hsa-miR-331-3p CLASH 23622248
MIRT043241 hsa-miR-324-5p CLASH 23622248
MIRT035878 hsa-miR-1303 CLASH 23622248
MIRT250718 hsa-miR-19a-3p HITS-CLIP 22473208
MIRT250719 hsa-miR-19b-3p HITS-CLIP 22473208
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.
MIM
HGNC
e!Ensembl
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
MAILSLRAPGPWQAMQVWADRTLLTPHTGVTSQVLGVAAAVMTPLPGGHAAGRTREARWD
AMEYDEKLARFRQAHLNPFNKQSGPRQHEQGPGEEVPDVTPEEALPELPPGEPEFRCPER
VMDLGLSEDHFSRPVGLFLASDVQQLRQAIEECKQVILELPEQSEKQKDAVVRLIHLRLK
LQELKDPNEDEPNIRVLLEHRFYKEKSKSVKQTCDKCNTIIWGLIQTWYTCTGCYYRCHS
KCLNLISKPCVSS
KVSHQAEYELNICPETGLDSQDYRCAECRAPISLRGVPSEARQCDYT
GQYYCSHCHWNDLAVIPARVVHNWDFEPRKVSRCSMRYLALMVSRPVLRLREINPLLFSY
VEELVEIRKLRQDILLMKPYFITCREAMEARLLLQLQDRQHFVENDEMYSVQDLLDVHAG
RLGCSLTEIHTLFAKHIKLDCERCQAKGFVCELCREGDVLFPFDSHTSVCADCSAVFHRD
CYYDNSTTCPKCARLSL
RKQSLFQEPGPDVEA
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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