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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	54849
Gene name	Differentially expressed in FDCP 8 homolog
Gene symbol	DEF8
Synonyms (NCBI Gene)	-
Chromosome	16
Chromosome location	16q24.3

240

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 (9)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0008270	Function	Zinc ion binding	IEA
GO:0032418	Process	Lysosome localization	IEA
GO:0032418	Process	Lysosome localization	ISS
GO:0045780	Process	Positive regulation of bone resorption	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	IEA
GO:1900029	Process	Positive regulation of ruffle assembly	ISS

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM OF SKIN	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATINOCYTE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOCYTIC NEVUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBACEOUS GLAND DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBORRHEIC KERATOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	26908436, 29054604	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	23437289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	23437289	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	23437289	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	GWASDB_DG	21926416		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	31630191, 34724200	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32943033	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	GWASCAT_DG	26829030, 26908436		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	26908436		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	GWASCAT_DG	27723757		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

DEF8 (differentially expressed in FDCP 8 homolog)