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	81610
Gene name	Family with sequence similarity 83 member D
Gene symbol	FAM83D
Synonyms (NCBI Gene)	C20orf129CHICAdJ616B8.3
Chromosome	20
Chromosome location	20q11.23

114

Show/Hide all (114)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022620	hsa-miR-124-3p	Microarray	18668037
MIRT024511	hsa-miR-215-5p	Microarray	19074876
MIRT026481	hsa-miR-192-5p	Microarray	19074876
MIRT658345	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT658344	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT658343	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT658342	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT658341	hsa-miR-635	HITS-CLIP	23824327
MIRT658340	hsa-miR-6774-5p	HITS-CLIP	23824327
MIRT658339	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT658338	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT658336	hsa-miR-4284	HITS-CLIP	23824327
MIRT658337	hsa-miR-3940-5p	HITS-CLIP	23824327
MIRT658334	hsa-miR-4507	HITS-CLIP	23824327
MIRT658335	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT523778	hsa-miR-4438	PAR-CLIP	23446348
MIRT523777	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT523776	hsa-miR-1292-3p	PAR-CLIP	23446348
MIRT523775	hsa-miR-6741-3p	PAR-CLIP	23446348
MIRT523774	hsa-miR-5095	PAR-CLIP	23446348
MIRT523773	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT523772	hsa-miR-5691	PAR-CLIP	23446348
MIRT523771	hsa-miR-6805-3p	PAR-CLIP	23446348
MIRT440673	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT440674	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT440673	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT727695	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT727694	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT727693	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT727692	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT153283	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT153284	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT440674	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT658343	hsa-miR-1304-3p	HITS-CLIP	27418678
MIRT658345	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT658344	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT658343	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT658342	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT658341	hsa-miR-635	HITS-CLIP	23824327
MIRT658340	hsa-miR-6774-5p	HITS-CLIP	23824327
MIRT658339	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT658338	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT658336	hsa-miR-4284	HITS-CLIP	23824327
MIRT658337	hsa-miR-3940-5p	HITS-CLIP	23824327
MIRT658334	hsa-miR-4507	HITS-CLIP	23824327
MIRT658335	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT523778	hsa-miR-4438	PAR-CLIP	23446348
MIRT523777	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT523776	hsa-miR-1292-3p	PAR-CLIP	23446348
MIRT523775	hsa-miR-6741-3p	PAR-CLIP	23446348
MIRT523774	hsa-miR-5095	PAR-CLIP	23446348
MIRT523773	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT523772	hsa-miR-5691	PAR-CLIP	23446348
MIRT523771	hsa-miR-6805-3p	PAR-CLIP	23446348
MIRT987660	hsa-miR-1183	CLIP-seq
MIRT987661	hsa-miR-1283	CLIP-seq
MIRT987662	hsa-miR-130a	CLIP-seq
MIRT987663	hsa-miR-130b	CLIP-seq
MIRT987664	hsa-miR-138	CLIP-seq
MIRT987665	hsa-miR-142-3p	CLIP-seq
MIRT987666	hsa-miR-194	CLIP-seq
MIRT987667	hsa-miR-200b	CLIP-seq
MIRT987668	hsa-miR-200c	CLIP-seq
MIRT987669	hsa-miR-217	CLIP-seq
MIRT987670	hsa-miR-301a	CLIP-seq
MIRT987671	hsa-miR-301b	CLIP-seq
MIRT987672	hsa-miR-3149	CLIP-seq
MIRT987673	hsa-miR-3666	CLIP-seq
MIRT987674	hsa-miR-3668	CLIP-seq
MIRT987675	hsa-miR-3713	CLIP-seq
MIRT987676	hsa-miR-3924	CLIP-seq
MIRT987677	hsa-miR-4282	CLIP-seq
MIRT987678	hsa-miR-429	CLIP-seq
MIRT987679	hsa-miR-4295	CLIP-seq
MIRT987680	hsa-miR-4299	CLIP-seq
MIRT987681	hsa-miR-4418	CLIP-seq
MIRT987682	hsa-miR-4427	CLIP-seq
MIRT987683	hsa-miR-4527	CLIP-seq
MIRT987684	hsa-miR-4528	CLIP-seq
MIRT987685	hsa-miR-454	CLIP-seq
MIRT987686	hsa-miR-4671-3p	CLIP-seq
MIRT987687	hsa-miR-4712-3p	CLIP-seq
MIRT987688	hsa-miR-4793-3p	CLIP-seq
MIRT987689	hsa-miR-4803	CLIP-seq
MIRT987690	hsa-miR-486-5p	CLIP-seq
MIRT987691	hsa-miR-495	CLIP-seq
MIRT987692	hsa-miR-499-3p	CLIP-seq
MIRT987693	hsa-miR-499a-3p	CLIP-seq
MIRT987694	hsa-miR-509-3-5p	CLIP-seq
MIRT987695	hsa-miR-509-5p	CLIP-seq
MIRT987696	hsa-miR-616	CLIP-seq
MIRT987697	hsa-miR-649	CLIP-seq
MIRT987660	hsa-miR-1183	CLIP-seq
MIRT987666	hsa-miR-194	CLIP-seq
MIRT987667	hsa-miR-200b	CLIP-seq
MIRT987668	hsa-miR-200c	CLIP-seq
MIRT1992676	hsa-miR-330-3p	CLIP-seq
MIRT987678	hsa-miR-429	CLIP-seq
MIRT1992677	hsa-miR-4422	CLIP-seq
MIRT987687	hsa-miR-4712-3p	CLIP-seq
MIRT987689	hsa-miR-4803	CLIP-seq
MIRT987660	hsa-miR-1183	CLIP-seq
MIRT987666	hsa-miR-194	CLIP-seq
MIRT987667	hsa-miR-200b	CLIP-seq
MIRT987668	hsa-miR-200c	CLIP-seq
MIRT987678	hsa-miR-429	CLIP-seq
MIRT987682	hsa-miR-4427	CLIP-seq
MIRT987688	hsa-miR-4793-3p	CLIP-seq
MIRT987689	hsa-miR-4803	CLIP-seq
MIRT1992676	hsa-miR-330-3p	CLIP-seq
MIRT1992677	hsa-miR-4422	CLIP-seq
MIRT2449431	hsa-miR-3145-3p	CLIP-seq
MIRT1992677	hsa-miR-4422	CLIP-seq
MIRT2449432	hsa-miR-4662a-3p	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IEA
GO:0001837	Process	Epithelial to mesenchymal transition	IDA	24344117
GO:0005515	Function	Protein binding	IPI	21900206, 22965910, 23455922, 24344117, 29789297, 31338967, 33961781, 35271311
GO:0005737	Component	Cytoplasm	IC	24736947, 25646692
GO:0005737	Component	Cytoplasm	IDA	18445686, 18485706
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IDA	18445686
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0007165	Process	Signal transduction	IBA
GO:0008017	Function	Microtubule binding	IDA	18485706
GO:0008283	Process	Cell population proliferation	IDA	24344117, 25646692
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016477	Process	Cell migration	IDA	24344117
GO:0019894	Function	Kinesin binding	IPI	18485706
GO:0019901	Function	Protein kinase binding	IBA
GO:0019901	Function	Protein kinase binding	IPI	24736947
GO:0032006	Process	Regulation of TOR signaling	IBA
GO:0032006	Process	Regulation of TOR signaling	IDA	24344117
GO:0042176	Process	Regulation of protein catabolic process	IDA	24344117
GO:0045171	Component	Intercellular bridge	IDA
GO:0051301	Process	Cell division	IEA
GO:0051310	Process	Metaphase chromosome alignment	IMP	18485706
GO:0070372	Process	Regulation of ERK1 and ERK2 cascade	IBA
GO:0070372	Process	Regulation of ERK1 and ERK2 cascade	IMP	24736947, 25646692
GO:0072686	Component	Mitotic spindle	IDA
GO:0097431	Component	Mitotic spindle pole	IBA
GO:0097431	Component	Mitotic spindle pole	IDA	15561729, 18485706
GO:1902480	Process	Protein localization to mitotic spindle	IBA
GO:1902480	Process	Protein localization to mitotic spindle	IMP	18485706
GO:1902808	Process	Positive regulation of cell cycle G1/S phase transition	IBA
GO:1902808	Process	Positive regulation of cell cycle G1/S phase transition	IMP	25646692

MIM	HGNC	e!Ensembl
618380	16122	ENSG00000101447

Q9H4H8

Protein name

Protein FAM83D (Spindle protein CHICA)

Protein function

Through the degradation of FBXW7, may act indirectly on the expression and downstream signaling of MTOR, JUN and MYC (PubMed:24344117). May play also a role in cell proliferation through activation of the ERK1/ERK2 signaling cascade (PubMed:2564

PDB

5E0L , 5E0M

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07894	FAM83	17 → 296	FAM83 A-H	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in the testis. {ECO:0000269|PubMed:22965910}.

Sequence

MALLSEGLDEVPAACLSPCGPPNPTELFSESRRLALEELVAGGPEAFAAFLRRERLARFL
NPDEVHAILRAAERPGEEGAAAAAAAEDSFGSSHDCSSGTYFPEQSDLEPPLLELGWPAF
YQGAYRGATRVETHFQPRGAGEGGPYGCKDALRQQLRSAREVIAVVMDVFTDIDIFRDLQ
EICRKQGVAVYILLDQALLSQFLDMCMDLKVHPEQEKLMTVRTITGNIYYARSGTKIIGK
VHEKFTLIDGIRVATGSYSFTWTDGKLNSSNLVILSGQVVEHFDLEFRILYAQSKPISPK
LLSHFQSSNKFDHLTNRKPQSKELTLGNLLRMRLARLSSTPRKADLDPEMPAEGKAERKP
HDCESSTVSEEDYFSSHRDELQSRKAIDAATQTEPGEEMPGLSVSEVGTQTSITTACAGT
QTAVITRIASSQTTIWSRSTTTQTDMDENILFPRGTQSTEGSPVSKMSVSRSSSLKSSSS
VSSQGSVASSTGSPASIRTTDFHNPGYPKYLGTPHLELYLSDSLRNLNKERQFHFAGIRS
RLNHMLAMLSRRTLFTENHLGLHSGNFSRVNLLAVRDVALYPSYQ

Sequence length

585

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 (3)

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.
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (24)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	33747255	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24344117, 26678035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24344117	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31758680, 35650627, 37958803	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34308751	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26125229	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30910840, 34308751, 36710419, 37309005	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36710419	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	39237897	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30939187		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28407575, 29221726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36710419	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27769048, 30910840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24344117, 26678035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30939187		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31413630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26678035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24344117, 26678035, 30910840, 30939187, 31413630		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30939187		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35489022	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36710419	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31413630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	26125229	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

FAM83D (family with sequence similarity 83 member D)