Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	54849
Gene name Gene Name - the full gene name approved by the HGNC.	Differentially expressed in FDCP 8 homolog
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DEF8
Synonyms (NCBI Gene) Gene synonyms aliases	-
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16q24.3

Show/Hide all(240)

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
MIRT931839	hsa-miR-1227	CLIP-seq
MIRT931840	hsa-miR-1236	CLIP-seq
MIRT931841	hsa-miR-3064-3p	CLIP-seq
MIRT931842	hsa-miR-3074-5p	CLIP-seq
MIRT931843	hsa-miR-3669	CLIP-seq
MIRT931844	hsa-miR-370	CLIP-seq
MIRT931845	hsa-miR-3941	CLIP-seq
MIRT931846	hsa-miR-466	CLIP-seq
MIRT931847	hsa-miR-4672	CLIP-seq
MIRT931848	hsa-miR-125a-3p	CLIP-seq
MIRT931849	hsa-miR-3613-5p	CLIP-seq
MIRT931850	hsa-miR-552	CLIP-seq
MIRT931851	hsa-miR-568	CLIP-seq
MIRT931852	hsa-miR-101	CLIP-seq
MIRT931853	hsa-miR-193a-3p	CLIP-seq
MIRT931854	hsa-miR-193b	CLIP-seq
MIRT931855	hsa-miR-3136-5p	CLIP-seq
MIRT931856	hsa-miR-3187-3p	CLIP-seq
MIRT931857	hsa-miR-3668	CLIP-seq
MIRT931858	hsa-miR-4439	CLIP-seq
MIRT931859	hsa-miR-448	CLIP-seq
MIRT931860	hsa-miR-4529-5p	CLIP-seq
MIRT931861	hsa-miR-4645-3p	CLIP-seq
MIRT931862	hsa-miR-4775	CLIP-seq
MIRT931863	hsa-miR-943	CLIP-seq
MIRT931864	hsa-miR-103a	CLIP-seq
MIRT931865	hsa-miR-106a	CLIP-seq
MIRT931866	hsa-miR-106b	CLIP-seq
MIRT931867	hsa-miR-107	CLIP-seq
MIRT931839	hsa-miR-1227	CLIP-seq
MIRT931840	hsa-miR-1236	CLIP-seq
MIRT931868	hsa-miR-1285	CLIP-seq
MIRT931869	hsa-miR-130a	CLIP-seq
MIRT931870	hsa-miR-130b	CLIP-seq
MIRT931871	hsa-miR-1343	CLIP-seq
MIRT931872	hsa-miR-15a	CLIP-seq
MIRT931873	hsa-miR-15b	CLIP-seq
MIRT931874	hsa-miR-16	CLIP-seq
MIRT931875	hsa-miR-17	CLIP-seq
MIRT931876	hsa-miR-195	CLIP-seq
MIRT931877	hsa-miR-19a	CLIP-seq
MIRT931878	hsa-miR-19b	CLIP-seq
MIRT931879	hsa-miR-20a	CLIP-seq
MIRT931880	hsa-miR-20b	CLIP-seq
MIRT931881	hsa-miR-2277-3p	CLIP-seq
MIRT931882	hsa-miR-301a	CLIP-seq
MIRT931883	hsa-miR-301b	CLIP-seq
MIRT931841	hsa-miR-3064-3p	CLIP-seq
MIRT931842	hsa-miR-3074-5p	CLIP-seq
MIRT931884	hsa-miR-3144-5p	CLIP-seq
MIRT931885	hsa-miR-3187-5p	CLIP-seq
MIRT931886	hsa-miR-3591-3p	CLIP-seq
MIRT931887	hsa-miR-3607-3p	CLIP-seq
MIRT931888	hsa-miR-3609	CLIP-seq
MIRT931889	hsa-miR-3666	CLIP-seq
MIRT931890	hsa-miR-3686	CLIP-seq
MIRT931844	hsa-miR-370	CLIP-seq
MIRT931891	hsa-miR-3940-5p	CLIP-seq
MIRT931892	hsa-miR-424	CLIP-seq
MIRT931893	hsa-miR-4279	CLIP-seq
MIRT931894	hsa-miR-4295	CLIP-seq
MIRT931895	hsa-miR-4310	CLIP-seq
MIRT931896	hsa-miR-4507	CLIP-seq
MIRT931897	hsa-miR-454	CLIP-seq
MIRT931898	hsa-miR-4796-3p	CLIP-seq
MIRT931899	hsa-miR-4800-5p	CLIP-seq
MIRT931900	hsa-miR-497	CLIP-seq
MIRT931901	hsa-miR-519a	CLIP-seq
MIRT931902	hsa-miR-519b-3p	CLIP-seq
MIRT931903	hsa-miR-519c-3p	CLIP-seq
MIRT931904	hsa-miR-519d	CLIP-seq
MIRT931905	hsa-miR-542-3p	CLIP-seq
MIRT931906	hsa-miR-548ah	CLIP-seq
MIRT931907	hsa-miR-612	CLIP-seq
MIRT931908	hsa-miR-629	CLIP-seq
MIRT931909	hsa-miR-635	CLIP-seq
MIRT931910	hsa-miR-93	CLIP-seq
MIRT1975849	hsa-miR-128	CLIP-seq
MIRT1975850	hsa-miR-1200	CLIP-seq
MIRT931839	hsa-miR-1227	CLIP-seq
MIRT931840	hsa-miR-1236	CLIP-seq
MIRT1975851	hsa-miR-1238	CLIP-seq
MIRT931848	hsa-miR-125a-3p	CLIP-seq
MIRT1975852	hsa-miR-1273f	CLIP-seq
MIRT1975853	hsa-miR-1275	CLIP-seq
MIRT1975854	hsa-miR-143	CLIP-seq
MIRT931872	hsa-miR-15a	CLIP-seq
MIRT931873	hsa-miR-15b	CLIP-seq
MIRT931874	hsa-miR-16	CLIP-seq
MIRT1975855	hsa-miR-1912	CLIP-seq
MIRT1975856	hsa-miR-1915	CLIP-seq
MIRT931876	hsa-miR-195	CLIP-seq
MIRT1975857	hsa-miR-1972	CLIP-seq
MIRT1975858	hsa-miR-1976	CLIP-seq
MIRT931881	hsa-miR-2277-3p	CLIP-seq
MIRT931841	hsa-miR-3064-3p	CLIP-seq
MIRT931842	hsa-miR-3074-5p	CLIP-seq
MIRT1975859	hsa-miR-3154	CLIP-seq
MIRT1975860	hsa-miR-3175	CLIP-seq
MIRT1975861	hsa-miR-3179	CLIP-seq
MIRT1975862	hsa-miR-3183	CLIP-seq
MIRT1975863	hsa-miR-33a	CLIP-seq
MIRT1975864	hsa-miR-33b	CLIP-seq
MIRT1975865	hsa-miR-361-3p	CLIP-seq
MIRT1975866	hsa-miR-3663-3p	CLIP-seq
MIRT1975867	hsa-miR-3665	CLIP-seq
MIRT931844	hsa-miR-370	CLIP-seq
MIRT1975868	hsa-miR-3909	CLIP-seq
MIRT1975869	hsa-miR-3944-5p	CLIP-seq
MIRT931892	hsa-miR-424	CLIP-seq
MIRT1975870	hsa-miR-4271	CLIP-seq
MIRT1975871	hsa-miR-4324	CLIP-seq
MIRT1975872	hsa-miR-4447	CLIP-seq
MIRT1975873	hsa-miR-4449	CLIP-seq
MIRT1975874	hsa-miR-4462	CLIP-seq
MIRT1975875	hsa-miR-4464	CLIP-seq
MIRT1975876	hsa-miR-4472	CLIP-seq
MIRT1975877	hsa-miR-4525	CLIP-seq
MIRT1975878	hsa-miR-4649-3p	CLIP-seq
MIRT1975879	hsa-miR-4650-5p	CLIP-seq
MIRT1975880	hsa-miR-4655-3p	CLIP-seq
MIRT1975881	hsa-miR-4665-5p	CLIP-seq
MIRT1975882	hsa-miR-4668-5p	CLIP-seq
MIRT1975883	hsa-miR-4688	CLIP-seq
MIRT1975884	hsa-miR-4723-3p	CLIP-seq
MIRT1975885	hsa-miR-4723-5p	CLIP-seq
MIRT1975886	hsa-miR-4725-3p	CLIP-seq
MIRT1975887	hsa-miR-4726-3p	CLIP-seq
MIRT1975888	hsa-miR-4736	CLIP-seq
MIRT1975889	hsa-miR-4748	CLIP-seq
MIRT1975890	hsa-miR-4749-3p	CLIP-seq
MIRT1975891	hsa-miR-4757-5p	CLIP-seq
MIRT1975892	hsa-miR-4770	CLIP-seq
MIRT1975893	hsa-miR-486-3p	CLIP-seq
MIRT931900	hsa-miR-497	CLIP-seq
MIRT931905	hsa-miR-542-3p	CLIP-seq
MIRT1975894	hsa-miR-544b	CLIP-seq
MIRT1975895	hsa-miR-625	CLIP-seq
MIRT2211293	hsa-miR-3126-3p	CLIP-seq
MIRT2211294	hsa-miR-516b	CLIP-seq
MIRT931839	hsa-miR-1227	CLIP-seq
MIRT931840	hsa-miR-1236	CLIP-seq
MIRT2211295	hsa-miR-192	CLIP-seq
MIRT1975857	hsa-miR-1972	CLIP-seq
MIRT2211296	hsa-miR-215	CLIP-seq
MIRT931841	hsa-miR-3064-3p	CLIP-seq
MIRT931842	hsa-miR-3074-5p	CLIP-seq
MIRT931844	hsa-miR-370	CLIP-seq
MIRT1975879	hsa-miR-4650-5p	CLIP-seq
MIRT931865	hsa-miR-106a	CLIP-seq
MIRT931866	hsa-miR-106b	CLIP-seq
MIRT1975850	hsa-miR-1200	CLIP-seq
MIRT2515168	hsa-miR-122	CLIP-seq
MIRT1975851	hsa-miR-1238	CLIP-seq
MIRT931869	hsa-miR-130a	CLIP-seq
MIRT931870	hsa-miR-130b	CLIP-seq
MIRT931875	hsa-miR-17	CLIP-seq
MIRT1975855	hsa-miR-1912	CLIP-seq
MIRT1975856	hsa-miR-1915	CLIP-seq
MIRT1975858	hsa-miR-1976	CLIP-seq
MIRT931877	hsa-miR-19a	CLIP-seq
MIRT931878	hsa-miR-19b	CLIP-seq
MIRT931879	hsa-miR-20a	CLIP-seq
MIRT931880	hsa-miR-20b	CLIP-seq
MIRT931882	hsa-miR-301a	CLIP-seq
MIRT931883	hsa-miR-301b	CLIP-seq
MIRT1975862	hsa-miR-3183	CLIP-seq
MIRT931886	hsa-miR-3591-3p	CLIP-seq
MIRT931887	hsa-miR-3607-3p	CLIP-seq
MIRT931888	hsa-miR-3609	CLIP-seq
MIRT2515169	hsa-miR-3657	CLIP-seq
MIRT931889	hsa-miR-3666	CLIP-seq
MIRT931890	hsa-miR-3686	CLIP-seq
MIRT1975868	hsa-miR-3909	CLIP-seq
MIRT931894	hsa-miR-4295	CLIP-seq
MIRT931895	hsa-miR-4310	CLIP-seq
MIRT1975871	hsa-miR-4324	CLIP-seq
MIRT1975873	hsa-miR-4449	CLIP-seq
MIRT1975874	hsa-miR-4462	CLIP-seq
MIRT1975875	hsa-miR-4464	CLIP-seq
MIRT2515170	hsa-miR-4480	CLIP-seq
MIRT931897	hsa-miR-454	CLIP-seq
MIRT1975878	hsa-miR-4649-3p	CLIP-seq
MIRT1975880	hsa-miR-4655-3p	CLIP-seq
MIRT1975884	hsa-miR-4723-3p	CLIP-seq
MIRT1975889	hsa-miR-4748	CLIP-seq
MIRT1975890	hsa-miR-4749-3p	CLIP-seq
MIRT1975891	hsa-miR-4757-5p	CLIP-seq
MIRT931898	hsa-miR-4796-3p	CLIP-seq
MIRT931899	hsa-miR-4800-5p	CLIP-seq
MIRT931901	hsa-miR-519a	CLIP-seq
MIRT931902	hsa-miR-519b-3p	CLIP-seq
MIRT931903	hsa-miR-519c-3p	CLIP-seq
MIRT931904	hsa-miR-519d	CLIP-seq
MIRT1975894	hsa-miR-544b	CLIP-seq
MIRT931906	hsa-miR-548ah	CLIP-seq
MIRT931910	hsa-miR-93	CLIP-seq
MIRT931865	hsa-miR-106a	CLIP-seq
MIRT931866	hsa-miR-106b	CLIP-seq
MIRT1975850	hsa-miR-1200	CLIP-seq
MIRT931869	hsa-miR-130a	CLIP-seq
MIRT931870	hsa-miR-130b	CLIP-seq
MIRT931875	hsa-miR-17	CLIP-seq
MIRT1975858	hsa-miR-1976	CLIP-seq
MIRT931877	hsa-miR-19a	CLIP-seq
MIRT931878	hsa-miR-19b	CLIP-seq
MIRT931879	hsa-miR-20a	CLIP-seq
MIRT931880	hsa-miR-20b	CLIP-seq
MIRT931882	hsa-miR-301a	CLIP-seq
MIRT931883	hsa-miR-301b	CLIP-seq
MIRT1975862	hsa-miR-3183	CLIP-seq
MIRT931886	hsa-miR-3591-3p	CLIP-seq
MIRT931887	hsa-miR-3607-3p	CLIP-seq
MIRT931888	hsa-miR-3609	CLIP-seq
MIRT931889	hsa-miR-3666	CLIP-seq
MIRT931890	hsa-miR-3686	CLIP-seq
MIRT1975868	hsa-miR-3909	CLIP-seq
MIRT931894	hsa-miR-4295	CLIP-seq
MIRT1975871	hsa-miR-4324	CLIP-seq
MIRT1975874	hsa-miR-4462	CLIP-seq
MIRT2515170	hsa-miR-4480	CLIP-seq
MIRT931897	hsa-miR-454	CLIP-seq
MIRT1975878	hsa-miR-4649-3p	CLIP-seq
MIRT1975880	hsa-miR-4655-3p	CLIP-seq
MIRT1975884	hsa-miR-4723-3p	CLIP-seq
MIRT1975890	hsa-miR-4749-3p	CLIP-seq
MIRT931898	hsa-miR-4796-3p	CLIP-seq
MIRT931899	hsa-miR-4800-5p	CLIP-seq
MIRT931901	hsa-miR-519a	CLIP-seq
MIRT931902	hsa-miR-519b-3p	CLIP-seq
MIRT931903	hsa-miR-519c-3p	CLIP-seq
MIRT931904	hsa-miR-519d	CLIP-seq
MIRT1975894	hsa-miR-544b	CLIP-seq
MIRT931906	hsa-miR-548ah	CLIP-seq
MIRT931910	hsa-miR-93	CLIP-seq

Show/Hide all(5)

GO ID	Ontology	Definition	Evidence
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

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

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
KCLNLISKPCVSSKVSHQAEYELNICPETGLDSQDYRCAECRAPISLRGVPSEARQCDYT
GQYYCSHCHWNDLAVIPARVVHNWDFEPRKVSRCSMRYLALMVSRPVLRLREINPLLFSY
VEELVEIRKLRQDILLMKPYFITCREAMEARLLLQLQDRQHFVENDEMYSVQDLLDVHAG
RLGCSLTEIHTLFAKHIKLDCERCQAKGFVCELCREGDVLFPFDSHTSVCADCSAVFHRD
CYYDNSTTCPKCARLSLRKQSLFQEPGPDVEA

Sequence length

512

Interactions

View interactions

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Carcinoma	Squamous cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	26908436, 26829030
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340 View all (64 more)	21926416

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Vitiligo	Vitiligo	GWAS
Actinic keratosis	Actinic keratosis	GWAS

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text Mining
Carcinoma Squamous Cell	Associate	26908436, 29054604
Crohn Disease	Associate	23437289
Inflammatory Bowel Diseases	Associate	23437289
Melanoma	Associate	31630191, 34724200
Pancreatic Neoplasms	Associate	32943033

DEF8 (differentially expressed in FDCP 8 homolog)