SACK1D

Summary

SACK1D (scaffolding CK1 anchoring protein D, HGNC:16122) is a protein-coding gene on chromosome 20q11.23, encoding Protein FAM83D (Q9H4H8). Through the degradation of FBXW7, may act indirectly on the expression and downstream signaling of MTOR, JUN and MYC.

Enables kinesin binding activity; microtubule binding activity; and protein kinase binding activity. Involved in several processes, including positive regulation of cell cycle G1/S phase transition; protein localization to mitotic spindle; and regulation of intracellular signal transduction. Located in cytosol; intercellular bridge; and mitotic spindle pole.

Source: NCBI Gene 81610 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 24 total
• MANE Select transcript: NM_030919

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16122
Approved symbol	SACK1D
Name	scaffolding CK1 anchoring protein D
Location	20q11.23
Locus type	gene with protein product
Status	Approved
Aliases	dJ616B8.3, CHICA
Ensembl gene	ENSG00000101447
Ensembl biotype	protein_coding
OMIM	618380
Entrez	81610

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000619304, ENST00000619850

RefSeq mRNA: 1 — MANE Select: NM_030919 NM_030919

CCDS: CCDS42872

Canonical transcript exons

ENST00000619850 — 4 exons

Exon	Start	End
ENSE00000661990	38941959	38942126
ENSE00000661991	38947876	38948000
ENSE00003737583	38926417	38926925
ENSE00003743226	38951539	38953106

Expression profiles

Bgee: expression breadth ubiquitous, 199 present calls, max score 97.75.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.5808 / max 496.7846, expressed in 1446 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
184596	14.5808	1446

Top tissues by expression

251 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
esophagus squamous epithelium	UBERON:0006920	97.75	gold quality
pharyngeal mucosa	UBERON:0000355	96.75	gold quality
mucosa of stomach	UBERON:0001199	96.69	gold quality
lower esophagus mucosa	UBERON:0035834	96.42	gold quality
lower esophagus	UBERON:0013473	95.75	gold quality
lower esophagus muscularis layer	UBERON:0035833	95.74	gold quality
esophagus mucosa	UBERON:0002469	95.54	gold quality
esophagus	UBERON:0001043	95.50	gold quality
urethra	UBERON:0000057	95.49	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	94.50	gold quality
ventricular zone	UBERON:0003053	92.89	gold quality
oral cavity	UBERON:0000167	92.86	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	92.22	gold quality
muscle layer of sigmoid colon	UBERON:0035805	90.94	gold quality
nipple	UBERON:0002030	90.92	gold quality
saphenous vein	UBERON:0007318	90.46	gold quality
nasal cavity epithelium	UBERON:0005384	90.25	silver quality
trabecular bone tissue	UBERON:0002483	88.11	gold quality
ganglionic eminence	UBERON:0004023	87.67	gold quality
trachea	UBERON:0003126	86.86	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.32	gold quality
ileal mucosa	UBERON:0000331	86.26	gold quality
upper arm skin	UBERON:0004263	85.93	silver quality
mucosa of paranasal sinus	UBERON:0005030	84.76	gold quality
colon	UBERON:0001155	84.31	gold quality
large intestine	UBERON:0000059	84.09	gold quality
gingiva	UBERON:0001828	83.91	gold quality
gingival epithelium	UBERON:0001949	83.53	gold quality
mucosa of transverse colon	UBERON:0004991	83.53	gold quality
mammalian vulva	UBERON:0000997	83.39	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-99795	yes	477.97
E-MTAB-7037	yes	251.14
E-MTAB-7249	yes	226.52
E-ANND-3	yes	5.52
E-MTAB-6911	no	666.49
E-GEOD-109979	no	108.22

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

36 targeting SACK1D, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-4255	99.72	67.70	1541
HSA-MIR-4427	99.34	70.33	1854
HSA-MIR-4311	99.31	70.47	3041
HSA-MIR-6797-3P	99.17	66.94	668
HSA-MIR-4744	99.01	69.91	1581
HSA-MIR-6715B-3P	98.80	68.07	1204
HSA-MIR-6076	98.61	65.69	637
HSA-MIR-138-5P	98.43	70.49	1292
HSA-MIR-7156-3P	98.25	67.66	859
HSA-MIR-4438	97.96	63.70	947
HSA-MIR-219B-5P	97.91	65.80	531
HSA-MIR-3116	97.07	65.78	1324

Literature-anchored findings (GeneRIF, showing 18)

• interaction partner of the chromokinesin Kid that is required for the generation of polar ejection forces and chromosome congression (PMID:18485706)
• Results demonstrate that FAM83D has prognostic value for breast cancer patients and is a novel oncogene in breast cancer development that at least in part acts through mTOR hyper-activation by inhibiting FBXW7. (PMID:24344117)
• Taken together, these results demonstrate that FAM83D is a novel oncogene in HCC development and may constitute a potential therapeutic target in HCC. (PMID:25646692)
• upregulation of FAM83D, a potential oncotarget gene, may be triggered by epigenetic events and can contribute to hepatocarcinogenesis (PMID:26125229)
• NMR-derived secondary chemical shifts and relaxation properties show that the Chica LC8 binding domain is essentially disordered with a dynamically restricted segment in one linker between motifs. (PMID:26652654)
• Higher level of FAM83D expression is positively correlated with an increase in genome instability in many cancer. (PMID:26678035)
• FAM83D promotes HCC recurrence by promoting CD44 expression and CD44+ CSCs malignancy. (PMID:27769048)
• FAM83D knockdown up-regulated the protein expression level of F-box and WD repeat domain-containing 7 (FBXW7), but diminished the Notch1 protein expression level. (PMID:28407575)
• Overexpressed in tumors, family with sequence similarity 83 member D protein FAM83D (FAM83D) is associated with gender, AJCC stage, tumor recurrence and survival in hepatocellular carcinoma (HCC). (PMID:30910840)
• FAM83D promotes ovarian cancer progression and its potential application in diagnosis of invasive ovarian cancer. (PMID:31037837)
• FAM83D promotes epithelial-mesenchymal transition, invasion and cisplatin resistance through regulating the AKT/mTOR pathway in non-small-cell lung cancer. (PMID:32006253)
• Fam83d modulates MAP kinase and AKT signaling and is induced during neurogenic skeletal muscle atrophy. (PMID:32092437)
• circFOXM1 promotes proliferation of non-small cell lung carcinoma cells by acting as a ceRNA to upregulate FAM83D. (PMID:32228656)
• Immune implication of FAM83D gene in hepatocellular carcinoma. (PMID:34308751)
• miRNA-142-3p functions as a potential tumor suppressor directly targeting FAM83D in the development of ovarian cancer. (PMID:35489022)
• Systematic analysis of the oncogenic role of FAM83D across cancers based on data mining. (PMID:36710419)
• METTL3 regulates FAM83D m[6]A modification to accelerate tumorigenesis of triple-negative breast cancer via the Wnt/beta-catenin pathway. (PMID:38043628)
• FAM83D promotes the progression of 4NQO-induced esophageal carcinoma via inhibiting FBWX7. (PMID:39260674)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam83d	ENSDARG00000077883
mus_musculus	Fam83d	ENSMUSG00000027654
rattus_norvegicus	Fam83d	ENSRNOG00000015794

Paralogs (7): FAM83E (ENSG00000105523), FAM83C (ENSG00000125998), FAM83F (ENSG00000133477), FAM83A (ENSG00000147689), FAM83B (ENSG00000168143), FAM83H (ENSG00000180921), FAM83G (ENSG00000188522)

Protein

Protein identifiers

Protein FAM83D — Q9H4H8 (reviewed: Q9H4H8)

Alternative names: Spindle protein CHICA

All UniProt accessions (2): Q9H4H8, A0A087WXK8

UniProt curated annotations — full annotation on UniProt →

Function. Through the degradation of FBXW7, may act indirectly on the expression and downstream signaling of MTOR, JUN and MYC. May play also a role in cell proliferation through activation of the ERK1/ERK2 signaling cascade. May also be important for proper chromosome congression and alignment during mitosis through its interaction with KIF22.

Subunit / interactions. Interacts with FBXW7; promotes FBXW7 degradation. May interact with RAF1. Interacts with KIF22; recruits KIF22 to mitotic spindle microtubules. Interacts (via C-terminus) with DYNLL1. Interacts with HMMR. Directly interacts (via DUF1669) with CSNK1A1 and CSNK1A1L.

Subcellular location. Cytoplasm. Cytoskeleton. Spindle. Spindle pole.

Tissue specificity. Expressed in the testis.

Post-translational modifications. Phosphorylated during mitosis.

Disease relevance. Probable proto-oncogene that regulates cell proliferation, growth, migration and epithelial to mesenchymal transition. Expression increased in hepatocellular carcinoma, promotes proliferation and cell colony formation via activation of MEK/ERK signaling. Expression increased in breast cancer; may be a prognostic indicator of poor disease-free survival.

Domain organisation. All members of the FAM83 family of proteins share a conserved N-terminal DUF1669 (domain of unknown function 1669) domain of about 300 amino acids. This domain mediates the interaction with casein kinase 1 (CK1) isoforms. Therefore, it has been proposed to rename DUF1669 the polypeptide anchor of CK1 domain.

Induction. Up-regulated during mitosis.

Miscellaneous. Was named CHICA (girl in Spanish) because it interacts with KID.

Similarity. Belongs to the FAM83 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H4H8-1	1	yes
Q9H4H8-2	2

RefSeq proteins (1): NP_112181* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012461	SACK1	Domain
IPR050944	FAM83	Family

Pfam: PF07894

UniProt features (20 total): region of interest 4, modified residue 4, mutagenesis site 3, sequence conflict 3, compositionally biased region 3, chain 1, splice variant 1, strand 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
5E0L	X-RAY DIFFRACTION	1.31
5E0M	X-RAY DIFFRACTION	1.65

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H4H8-F1	64.27	0.33

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (4): 513, 568, 298, 462

Mutagenesis-validated functional residues (3):

Position	Phenotype
391–393	abolishes interaction with dynll1 and no effect on interaction with hmmr; when associated with 409-a–a-411 and 442-a–a
409–411	abolishes interaction with dynll1 and no effect on interaction with hmmr; when associated with 391-a–a-393 and 442-a–a
442–444	abolishes interaction with dynll1 and no effect on interaction with hmmr; when associated with 391-a–a-393 and 409-a–a

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-177929	Signaling by EGFR

MSigDB gene sets: 176 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, GOBP_PROTEIN_LOCALIZATION_TO_CYTOSKELETON, HORIUCHI_WTAP_TARGETS_DN, GOBP_CHROMOSOME_LOCALIZATION, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, CAGGTCC_MIR492, BRUECKNER_TARGETS_OF_MIRLET7A3_DN, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_MESENCHYMAL_CELL_DIFFERENTIATION, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_DN, GOBP_REGULATION_OF_CATABOLIC_PROCESS, FISCHER_G2_M_CELL_CYCLE, GOBP_REGULATION_OF_CELL_CYCLE

GO Biological Process (11): epithelial to mesenchymal transition (GO:0001837), signal transduction (GO:0007165), cell population proliferation (GO:0008283), cell migration (GO:0016477), regulation of TOR signaling (GO:0032006), regulation of protein catabolic process (GO:0042176), cell division (GO:0051301), metaphase chromosome alignment (GO:0051310), regulation of ERK1 and ERK2 cascade (GO:0070372), protein localization to mitotic spindle (GO:1902480), positive regulation of cell cycle G1/S phase transition (GO:1902808)

GO Molecular Function (4): microtubule binding (GO:0008017), kinesin binding (GO:0019894), protein kinase binding (GO:0019901), protein binding (GO:0005515)

GO Cellular Component (9): cytoplasm (GO:0005737), spindle (GO:0005819), cytosol (GO:0005829), microtubule cytoskeleton (GO:0015630), intercellular bridge (GO:0045171), mitotic spindle (GO:0072686), mitotic spindle pole (GO:0097431), spindle pole (GO:0000922), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Signaling by Receptor Tyrosine Kinases	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cellular process	3
intracellular membraneless organelle	2
spindle	2
mesenchymal cell differentiation	1
cell communication	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
cell motility	1
TOR signaling	1
regulation of intracellular signal transduction	1
regulation of catabolic process	1
protein catabolic process	1
regulation of protein metabolic process	1
chromosome localization	1
nuclear chromosome segregation	1
regulation of MAPK cascade	1
ERK1 and ERK2 cascade	1
protein localization to microtubule cytoskeleton	1
cell cycle G1/S phase transition	1
positive regulation of cell cycle phase transition	1
regulation of cell cycle G1/S phase transition	1
tubulin binding	1
cytoskeletal protein binding	1
kinase binding	1
binding	1
intracellular anatomical structure	1
microtubule cytoskeleton	1
cytoplasm	1
cytoskeleton	1
spindle pole	1
mitotic spindle	1

Protein interactions and networks

STRING

918 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SACK1D	DYNLL1	P63167	694
SACK1D	KIF4A	O95239	676
SACK1D	HMMR	O75330	644
SACK1D	AURKA	O14965	642
SACK1D	TPX2	Q9ULW0	612
SACK1D	NEK2	P51955	581
SACK1D	DLGAP5	Q15398	573
SACK1D	CDK1	P06493	573
SACK1D	KIF22	Q14807	558
SACK1D	KIF20A	O95235	553
SACK1D	NUF2	Q9BZD4	531
SACK1D	CENPF	P49454	520
SACK1D	PPP1R16B	Q96T49	513
SACK1D	AURKB	Q96GD4	509
SACK1D	SMC4	Q9NTJ3	497

IntAct

105 interactions, top by confidence:

A	B	Type	Score
CSNK1A1	FAM83G	psi-mi:“MI:0914”(association)	0.900
BACH1	MAFG	psi-mi:“MI:0914”(association)	0.870
CSNK1A1	FAM83D	psi-mi:“MI:0915”(physical association)	0.830
CSNK1A1	FAM83D	psi-mi:“MI:0403”(colocalization)	0.830
CSNK1D	PER2	psi-mi:“MI:0914”(association)	0.810
IFT70B	IFT56	psi-mi:“MI:0914”(association)	0.790
RFXANK	RFXAP	psi-mi:“MI:0914”(association)	0.780
GMNN	MCIDAS	psi-mi:“MI:0914”(association)	0.770
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
POLR1E	POLR1C	psi-mi:“MI:0914”(association)	0.670
CEP170	KIF2A	psi-mi:“MI:2364”(proximity)	0.650
DYNLL2	BLTP3B	psi-mi:“MI:0914”(association)	0.640
PSMC3	PSMD12	psi-mi:“MI:0914”(association)	0.640
FAM83D	HMMR	psi-mi:“MI:0914”(association)	0.560
HMMR	FAM83D	psi-mi:“MI:0915”(physical association)	0.560
FAM83D	CSNK1E	psi-mi:“MI:0915”(physical association)	0.550
DYNC1I1	FAM83D	psi-mi:“MI:0915”(physical association)	0.550
NMD3	POTEF	psi-mi:“MI:0914”(association)	0.530
SLX1A	BACH1	psi-mi:“MI:0914”(association)	0.530

BioGRID (134): FAM83D (Affinity Capture-MS), FAM83D (Affinity Capture-MS), FAM83D (Affinity Capture-MS), FAM83D (Proximity Label-MS), FAM83D (Proximity Label-MS), FAM83D (Affinity Capture-MS), FAM83D (Affinity Capture-MS), FAM83D (Affinity Capture-MS), FAM83D (Affinity Capture-MS), FAM83D (Affinity Capture-MS), FAM83D (Affinity Capture-MS), FBXW7 (Affinity Capture-Western), FAM83D (Affinity Capture-Western), FAM83D (Affinity Capture-MS), FAM83D (Affinity Capture-MS)

ESM2 similar proteins: A0A8M9QN10, A1L1G9, A2BGA0, A3KN19, A4QP72, A6H8H2, B0BF33, B0JZV4, E7FDW2, F1QJF4, F7BJB9, O15013, O73630, P19838, P25799, P51448, P59997, P68907, P98150, Q04861, Q08AE8, Q12923, Q1LYM3, Q3U1T9, Q5SWY7, Q5VZ89, Q5XGY0, Q5XK72, Q63369, Q64512, Q66JF7, Q69ZS0, Q6F3J0, Q6PF42, Q6ZUJ8, Q7SYN5, Q7Z3E5, Q7Z401, Q803Q4, Q8C033

Diamond homologs: A1L1G9, A2ARK0, A3KN19, A4QP72, A6ND36, A9JRM0, Q0VBM2, Q148V8, Q1LVV0, Q2M2I3, Q3UKU4, Q5SWY7, Q5T0W9, Q5XGY0, Q5XK72, Q66JF7, Q6PF42, Q6ZRV2, Q80XS7, Q86UY5, Q8K2P2, Q8NEG4, Q9BQN1, Q9D7I8, Q9H4H8, Q1RK58, Q4UJZ1, Q68VT0, Q9ZCD8

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
FAM83D	“up-regulates quantity”	CSNK1A1	binding
FAM83D	“up-regulates quantity”	CSNK1A1L	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 123 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Aggrephagy	11	35.5×	4e-12
HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand	11	27.6×	4e-11
COPI-independent Golgi-to-ER retrograde traffic	10	27.0×	5e-10
Oncogenic MAPK signaling	8	25.8×	6e-08
HCMV Infection	5	21.2×	6e-05
Intraflagellar transport	8	20.8×	2e-07
AURKA Activation by TPX2	10	19.8×	8e-09
Cargo trafficking to the periciliary membrane	6	19.4×	1e-05

GO biological processes:

GO term	Partners	Fold	FDR
microtubule-based process	5	46.3×	5e-05
regulation of circadian rhythm	5	12.1×	6e-03
positive regulation of proteasomal ubiquitin-dependent protein catabolic process	5	9.8×	1e-02
microtubule cytoskeleton organization	7	7.9×	3e-03
cilium assembly	11	7.6×	1e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

24 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	16
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

616 predictions. Top by Δscore:

Variant	Effect	Δscore
20:38926923:GAG:G	donor_gain	1.0000
20:38926926:G:T	donor_loss	1.0000
20:38926927:T:A	donor_loss	1.0000
20:38941954:TGTA:T	acceptor_loss	1.0000
20:38941955:GTAG:G	acceptor_loss	1.0000
20:38941957:A:G	acceptor_loss	1.0000
20:38941957:AGGT:A	acceptor_gain	1.0000
20:38941958:GGT:G	acceptor_gain	1.0000
20:38941958:GGTG:G	acceptor_gain	1.0000
20:38942034:G:GT	donor_gain	1.0000
20:38947874:A:AG	acceptor_gain	1.0000
20:38947875:G:GG	acceptor_gain	1.0000
20:38947875:GTTA:G	acceptor_gain	1.0000
20:38947998:CAGG:C	donor_loss	1.0000
20:38947999:AGGT:A	donor_loss	1.0000
20:38948000:GGTA:G	donor_loss	1.0000
20:38948001:G:C	donor_loss	1.0000
20:38948002:TAAG:T	donor_loss	1.0000
20:38926926:G:GG	donor_gain	0.9900
20:38941951:A:AG	acceptor_gain	0.9900
20:38941951:ACCT:A	acceptor_gain	0.9900
20:38941952:C:G	acceptor_gain	0.9900
20:38941957:A:AG	acceptor_gain	0.9900
20:38941957:AG:A	acceptor_gain	0.9900
20:38941958:G:GG	acceptor_gain	0.9900
20:38941958:GG:G	acceptor_gain	0.9900
20:38941958:GGTGA:G	acceptor_gain	0.9900
20:38942122:A:T	donor_gain	0.9900
20:38942122:AAAAG:A	donor_loss	0.9900
20:38942123:AAAG:A	donor_loss	0.9900

AlphaMissense

3793 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:38926791:T:A	W117R	0.998
20:38926791:T:C	W117R	0.998
20:38926793:G:C	W117C	0.998
20:38926793:G:T	W117C	0.998
20:38947957:T:C	F245L	0.998
20:38947959:C:A	F245L	0.998
20:38947959:C:G	F245L	0.998
20:38951546:T:A	W262R	0.998
20:38951546:T:C	W262R	0.998
20:38951621:T:C	F287L	0.998
20:38951622:T:C	F287S	0.998
20:38951623:C:A	F287L	0.998
20:38951623:C:G	F287L	0.998
20:38941966:C:A	A164E	0.997
20:38947889:G:C	R222P	0.997
20:38947958:T:C	F245S	0.997
20:38947970:A:T	D249V	0.997
20:38951643:C:T	S294F	0.997
20:38947969:G:C	D249H	0.996
20:38951592:G:T	G277V	0.996
20:38942011:T:C	L179P	0.995
20:38947940:G:A	G239E	0.995
20:38951548:G:C	W262C	0.995
20:38951548:G:T	W262C	0.995
20:38926539:C:A	R33S	0.994
20:38926889:G:C	K149N	0.994
20:38926889:G:T	K149N	0.994
20:38947886:T:A	V221D	0.994
20:38947940:G:T	G239V	0.994
20:38951609:T:C	F283L	0.994

dbSNP variants (sampled 300 via entrez): RS1000368391 (20:38932608 T>A), RS1000441971 (20:38932301 A>G), RS1000623073 (20:38926252 A>C,T), RS1000706218 (20:38931086 C>T), RS1000778200 (20:38930885 C>G,T), RS1000903479 (20:38942410 C>T), RS1000964976 (20:38936940 C>T), RS1001253277 (20:38949535 G>A), RS1001522583 (20:38931557 G>A,C), RS1001659762 (20:38931869 G>A), RS1001683710 (20:38945251 C>T), RS1001695506 (20:38942316 C>T), RS1001795130 (20:38925934 C>A,T), RS1001851340 (20:38930343 G>C), RS1001890438 (20:38925069 AG>A)

Disease associations

OMIM: gene MIM:618380 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST004691_5	Huntington’s disease progression	2.000000e-06
GCST004757_1	Alcohol dependence or chronic alcoholic pancreatitis or alcohol-related liver cirrhosis	8.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008336	disease progression measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

88 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	decreases expression	4
sodium arsenite	affects expression, decreases expression, increases expression	3
Air Pollutants	decreases expression, increases abundance, increases expression	3
Benzo(a)pyrene	decreases expression	3
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	3
Particulate Matter	increases expression, decreases expression, increases abundance, affects cotreatment, decreases abundance	3
bisphenol A	affects expression, decreases expression	2
Cisplatin	affects cotreatment, increases expression, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Smoke	decreases expression, increases abundance, increases expression	2
Tunicamycin	decreases expression	2
Valproic Acid	affects expression, increases methylation	2
Aflatoxin B1	decreases expression, increases methylation	2
aristolochic acid I	increases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
afuresertib	decreases expression	1
FR900359	affects phosphorylation	1
methyleugenol	decreases expression	1
deoxynivalenol	increases expression	1
diethyl maleate	increases expression	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
perfluorooctanoic acid	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
rutecarpine	decreases expression	1
cupric oxide	decreases expression	1
hydroquinone	decreases expression	1
diallyl trisulfide	decreases expression	1
beta-methylcholine	affects expression	1
celastrol	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2WX	Abcam HEK293T FAM83D KO	Transformed cell line	Female

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.