SACK1B

Summary

SACK1B (scaffolding CK1 anchoring protein B, HGNC:21357) is a protein-coding gene on chromosome 6p12.1, encoding Protein FAM83B (Q5T0W9). Probable proto-oncogene that functions in the epidermal growth factor receptor/EGFR signaling pathway.

Enables epidermal growth factor receptor binding activity; phosphatidylinositol 3-kinase binding activity; and protein kinase binding activity. Involved in cell population proliferation and positive regulation of epidermal growth factor receptor signaling pathway. Located in cytoplasm and membrane.

Source: NCBI Gene 222584 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 148 total
• Druggable target: yes
• MANE Select transcript: NM_001010872

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21357
Approved symbol	SACK1B
Name	scaffolding CK1 anchoring protein B
Location	6p12.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ30642
Ensembl gene	ENSG00000168143
Ensembl biotype	protein_coding
Entrez	222584

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000306858

RefSeq mRNA: 1 — MANE Select: NM_001010872 NM_001010872

CCDS: CCDS34479

Canonical transcript exons

ENST00000306858 — 5 exons

Exon	Start	End
ENSE00001084251	54927508	54927632
ENSE00001084252	54926371	54926535
ENSE00001148836	54939706	54945099
ENSE00001148846	54870187	54870690
ENSE00001414584	54846771	54846826

Expression profiles

Bgee: expression breadth broad, 99 present calls, max score 85.28.

FANTOM5 (CAGE): breadth broad, TPM avg 5.9194 / max 244.0286, expressed in 493 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
68304	4.8379	475
68303	0.6468	265
68302	0.4346	187

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skin of abdomen	UBERON:0001416	85.28	gold quality
skin of leg	UBERON:0001511	84.69	gold quality
zone of skin	UBERON:0000014	82.38	gold quality
esophagus mucosa	UBERON:0002469	81.03	gold quality
rectum	UBERON:0001052	79.94	gold quality
lower esophagus mucosa	UBERON:0035834	78.72	gold quality
islet of Langerhans	UBERON:0000006	74.19	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	73.58	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	72.41	gold quality
upper leg skin	UBERON:0004262	70.33	gold quality
minor salivary gland	UBERON:0001830	70.05	gold quality
vagina	UBERON:0000996	69.82	gold quality
mucosa of transverse colon	UBERON:0004991	69.70	gold quality
colonic epithelium	UBERON:0000397	67.92	gold quality
gall bladder	UBERON:0002110	67.26	gold quality
mouth mucosa	UBERON:0003729	66.85	gold quality
saliva-secreting gland	UBERON:0001044	66.30	gold quality
transverse colon	UBERON:0001157	65.36	gold quality
tonsil	UBERON:0002372	64.70	gold quality
pancreas	UBERON:0001264	62.80	gold quality
left lobe of thyroid gland	UBERON:0001120	61.95	gold quality
skin of hip	UBERON:0001554	61.30	gold quality
right lobe of thyroid gland	UBERON:0001119	61.29	gold quality
right atrium auricular region	UBERON:0006631	61.23	gold quality
thyroid gland	UBERON:0002046	61.09	gold quality
small intestine	UBERON:0002108	61.04	gold quality
small intestine Peyer’s patch	UBERON:0003454	60.91	gold quality
vermiform appendix	UBERON:0001154	60.77	gold quality
cardiac atrium	UBERON:0002081	60.70	gold quality
metanephros cortex	UBERON:0010533	60.10	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	146.93
E-ANND-3	yes	6.80

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

136 targeting SACK1B, 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-4668-3P	100.00	68.74	2635
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-495-3P	99.96	72.81	4197
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-548AE-3P	99.93	72.66	4867

Literature-anchored findings (GeneRIF, showing 8)

• FAM83B expression was significantly elevated in cancer and was associated with specific cancer subtypes, increased tumor grade, and decreased overall survival. (PMID:22886302)
• ablation of FAM83B decreased p110alpha and AKT membrane localization, suppressed AKT phosphorylation, and diminished proliferation, AIG, and tumorigenicity in vivo. (PMID:23676467)
• Suppression of PLD1 activity prevents FAM83B-mediated transformation. (PMID:23912460)
• FAM83B protein was increased in lung squamous cell carcinoma compared with lung adenocarcinoma or adjacent normal tissues, and that high-expression levels of FAM83B were associated with a high disease-free survival rate. (PMID:25586059)
• MicroRNA199a/b5p inhibits endometrial cancer cell metastasis and invasion by targeting FAM83B in the epithelialtomesenchymal transition signaling pathway. (PMID:33649801)
• FAM83B is involved in thyroid cancer cell differentiation and migration. (PMID:35597845)
• FAM83B promotes the invasion of primary lung adenocarcinoma via PI3K/AKT/NF-kappaB pathway. (PMID:36690987)
• FAM83B regulates mitochondrial metabolism and anti-apoptotic activity in pulmonary adenocarcinoma. (PMID:38478170)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam83b	ENSDARG00000078309
mus_musculus	Fam83b	ENSMUSG00000032358
rattus_norvegicus	Fam83b	ENSRNOG00000069372

Paralogs (7): FAM83D (ENSG00000101447), FAM83E (ENSG00000105523), FAM83C (ENSG00000125998), FAM83F (ENSG00000133477), FAM83A (ENSG00000147689), FAM83H (ENSG00000180921), FAM83G (ENSG00000188522)

Protein

Protein identifiers

Protein FAM83B — Q5T0W9 (reviewed: Q5T0W9)

All UniProt accessions (1): Q5T0W9

UniProt curated annotations — full annotation on UniProt →

Function. Probable proto-oncogene that functions in the epidermal growth factor receptor/EGFR signaling pathway. Activates both the EGFR itself and downstream RAS/MAPK and PI3K/AKT/TOR signaling cascades.

Subunit / interactions. Interacts with EGFR; positively regulates EGFR inducing its autophosphorylation in absence of stimulation by EGF. Interacts with RAF1; displaces 14-3-3 proteins from RAF1 and activates RAF1 within the RAS/MAPK signaling cascade. Interacts with AKT1, PIK3CA and PIK3R1; activates the PI3K/AKT signaling cascade. Directly interacts (via DUF1669) with casein kinase isoforms CSNK1A1, CSNK1A1L, CSNK1D and CSNK1E.

Subcellular location. Cytoplasm. Membrane.

Post-translational modifications. Phosphorylated in vitro by CSNK1A1.

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.

Similarity. Belongs to the FAM83 family.

RefSeq proteins (1): NP_001010872* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012461	SACK1	Domain
IPR050944	FAM83	Family

Pfam: PF07894

UniProt features (51 total): modified residue 11, strand 10, compositionally biased region 7, helix 7, region of interest 6, sequence variant 4, sequence conflict 3, chain 1, mutagenesis site 1, turn 1

Structure

Experimental structures (PDB)

12 structures.

PDB	Method	Resolution (Å)
5LZK	X-RAY DIFFRACTION	1.57
5QHK	X-RAY DIFFRACTION	1.61
5QHO	X-RAY DIFFRACTION	1.66
5QHJ	X-RAY DIFFRACTION	1.68
5QHL	X-RAY DIFFRACTION	1.68
5QHR	X-RAY DIFFRACTION	1.68
5QHI	X-RAY DIFFRACTION	1.73
5QHN	X-RAY DIFFRACTION	1.73
5QHM	X-RAY DIFFRACTION	1.79
5QHS	X-RAY DIFFRACTION	1.95
5QHQ	X-RAY DIFFRACTION	1.96
5QHP	X-RAY DIFFRACTION	2.06

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5T0W9-F1	51.71	0.19

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 (11): 334, 422, 424, 466, 543, 664, 782, 802, 852, 869, 915

Mutagenesis-validated functional residues (1):

Position	Phenotype
230	loss of interaction with egfr. loss of activation of egfr.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-177929	Signaling by EGFR
R-HSA-9696264	RND3 GTPase cycle
R-HSA-9696270	RND2 GTPase cycle
R-HSA-9696273	RND1 GTPase cycle

MSigDB gene sets: 91 (showing top): GOBP_REGULATION_OF_ERBB_SIGNALING_PATHWAY, chr6p12, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOBP_ERBB_SIGNALING_PATHWAY, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_UP, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOMF_SIGNALING_RECEPTOR_BINDING, GOBP_POSITIVE_REGULATION_OF_ERBB_SIGNALING_PATHWAY, GOBP_CELL_SURFACE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY, GOMF_EPIDERMAL_GROWTH_FACTOR_RECEPTOR_BINDING, GOMF_PHOSPHORIC_DIESTER_HYDROLASE_ACTIVITY, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS, GOMF_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY, GOMF_PHOSPHATIDYLINOSITOL_3_KINASE_BINDING, GOMF_GROWTH_FACTOR_RECEPTOR_BINDING

GO Biological Process (3): signal transduction (GO:0007165), cell population proliferation (GO:0008283), positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)

GO Molecular Function (5): epidermal growth factor receptor binding (GO:0005154), protein kinase binding (GO:0019901), phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312), phosphatidylinositol 3-kinase catalytic subunit binding (GO:0036313), protein binding (GO:0005515)

GO Cellular Component (3): cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
RHO GTPase cycle	3
Signaling by Receptor Tyrosine Kinases	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cellular process	2
kinase binding	2
phosphatidylinositol 3-kinase binding	2
cell communication	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
epidermal growth factor receptor signaling pathway	1
regulation of epidermal growth factor receptor signaling pathway	1
positive regulation of ERBB signaling pathway	1
growth factor receptor binding	1
binding	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

552 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SACK1B	KIF4A	O95239	508
SACK1B	AXIN1	O15169	498
SACK1B	EGFR	P00533	444
SACK1B	VRK3	Q8IV63	419
SACK1B	TINAGL1	Q9GZM7	406
SACK1B	TINAG	Q9UJW2	405
SACK1B	SPDYE11	P0DTA3	400
SACK1B	PEF1	Q9UBV8	398
SACK1B	GFRAL	Q6UXV0	391
SACK1B	PRIM2	P49643	383
SACK1B	VRK2	Q86Y07	376
SACK1B	NPFFR1	Q9GZQ6	362
SACK1B	CFAP251	Q8TBY9	359
SACK1B	TTBK2	Q6IQ55	351
SACK1B	AKAIN1	P0CW23	349

IntAct

85 interactions, top by confidence:

A	B	Type	Score
CSNK1A1	FAM83G	psi-mi:“MI:0914”(association)	0.900
FAM83B	CSNK1A1	psi-mi:“MI:0914”(association)	0.800
FAM83B	CSNK1A1	psi-mi:“MI:0403”(colocalization)	0.800
CSNK1A1	FAM83B	psi-mi:“MI:0217”(phosphorylation reaction)	0.800
SLMAP	STRN	psi-mi:“MI:2364”(proximity)	0.710
KCNJ2	KCNJ18	psi-mi:“MI:2364”(proximity)	0.660
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
YWHAB	BLTP3B	psi-mi:“MI:2364”(proximity)	0.610
YWHAB	BLTP3B	psi-mi:“MI:0914”(association)	0.610
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
POTEB3	POTEF	psi-mi:“MI:0914”(association)	0.530
ARC	FER	psi-mi:“MI:0914”(association)	0.530
CSNK1E	ZSWIM8	psi-mi:“MI:0914”(association)	0.530
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
CLEC11A	VWA8	psi-mi:“MI:0914”(association)	0.530
PAK5	ARHGEF11	psi-mi:“MI:0914”(association)	0.530
Cbx1	FLOT1	psi-mi:“MI:0915”(physical association)	0.400
Mis12		psi-mi:“MI:0914”(association)	0.350
APC	BBX	psi-mi:“MI:0914”(association)	0.350
Gorasp1	GOLGA2	psi-mi:“MI:0914”(association)	0.350
Tnpo1	CCHCR1	psi-mi:“MI:0914”(association)	0.350

BioGRID (184): FAM83B (Affinity Capture-MS), FAM83B (Affinity Capture-MS), FAM83B (Affinity Capture-MS), FAM83B (Proximity Label-MS), FAM83B (Proximity Label-MS), FAM83B (Proximity Label-MS), FAM83B (Affinity Capture-MS), FAM83B (Affinity Capture-MS), FAM83B (Affinity Capture-MS), FAM83B (Affinity Capture-MS), FAM83B (Affinity Capture-MS), FAM83B (Affinity Capture-MS), FAM83B (Affinity Capture-MS), FAM83B (Affinity Capture-MS), FAM83B (Affinity Capture-MS)

ESM2 similar proteins: A0A140LFM6, A0A1L8H8C0, A0A1L8HFX9, A0A2R6X6S3, A0JM08, A2ARZ3, A2RUV4, A5WUN7, A6QP06, D4AEC2, E9Q309, O76039, P51960, Q03898, Q05935, Q06190, Q08AD1, Q08D57, Q0WPH8, Q3KQW7, Q3UTQ8, Q498L0, Q5RAU1, Q5SW79, Q5T0W9, Q5T5U3, Q5VT06, Q62770, Q66J90, Q69Z38, Q6A065, Q6DFG0, Q6DFV3, Q6IRN6, Q71M21, Q80TN7, Q8AV28, Q8C1B1, Q8IVL0, Q8IZ21

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

4 interactions.

A	Effect	B	Mechanism
FAM83B	“up-regulates quantity”	CSNK1A1	binding
FAM83B	“up-regulates quantity”	CSNK1A1L	binding
FAM83B	“up-regulates quantity”	CSNK1E	binding
FAM83B	“up-regulates quantity”	CSNK1D	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 92 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
Activation of BAD and translocation to mitochondria	7	96.9×	7e-11
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	85.5×	1e-10
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	85.5×	1e-10
Activation of BH3-only proteins	7	63.2×	1e-09
RHO GTPases activate PKNs	7	40.4×	2e-08
Intrinsic Pathway for Apoptosis	7	37.3×	3e-08
FOXO-mediated transcription	5	30.5×	1e-05
Apoptosis	9	27.5×	3e-09

GO biological processes:

GO term	Partners	Fold	FDR
substantia nigra development	6	30.1×	2e-05
protein targeting	5	25.1×	4e-04
intracellular protein localization	10	14.3×	1e-06
Wnt signaling pathway	6	8.2×	1e-02
protein phosphorylation	7	6.5×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	135
Likely benign	6
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1481 predictions. Top by Δscore:

Variant	Effect	Δscore
6:54846827:G:GG	donor_gain	1.0000
6:54870178:A:AG	acceptor_gain	1.0000
6:54870179:A:G	acceptor_gain	1.0000
6:54887426:G:T	donor_gain	1.0000
6:54887480:T:G	donor_gain	1.0000
6:54926368:CA:C	acceptor_loss	1.0000
6:54926369:A:AG	acceptor_gain	1.0000
6:54926369:AGG:A	acceptor_loss	1.0000
6:54926370:G:GG	acceptor_gain	1.0000
6:54926370:G:GT	acceptor_loss	1.0000
6:54926370:GGTC:G	acceptor_gain	1.0000
6:54926468:A:G	donor_gain	1.0000
6:54926533:AGGGT:A	donor_loss	1.0000
6:54926534:GG:G	donor_gain	1.0000
6:54926534:GGGTA:G	donor_loss	1.0000
6:54926535:GG:G	donor_gain	1.0000
6:54926535:GGTAA:G	donor_loss	1.0000
6:54926536:G:GG	donor_gain	1.0000
6:54926537:T:A	donor_loss	1.0000
6:54927496:A:AG	acceptor_gain	1.0000
6:54927497:T:G	acceptor_gain	1.0000
6:54927499:T:G	acceptor_gain	1.0000
6:54927500:A:AG	acceptor_gain	1.0000
6:54927501:A:G	acceptor_gain	1.0000
6:54927507:GA:G	acceptor_gain	1.0000
6:54846823:GCAA:G	donor_gain	0.9900
6:54846824:C:T	donor_gain	0.9900
6:54846824:CAAGT:C	donor_loss	0.9900
6:54846826:AGTA:A	donor_loss	0.9900
6:54846827:GT:G	donor_loss	0.9900

AlphaMissense

6669 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:54870568:T:A	W108R	0.999
6:54870568:T:C	W108R	0.999
6:54939713:T:A	W248R	0.999
6:54939713:T:C	W248R	0.999
6:54870570:G:C	W108C	0.998
6:54870570:G:T	W108C	0.998
6:54870653:A:T	K136I	0.998
6:54870654:A:C	K136N	0.998
6:54870654:A:T	K136N	0.998
6:54870665:G:C	R140P	0.998
6:54926378:C:A	A151D	0.998
6:54927521:G:C	R208P	0.997
6:54870350:T:C	L35P	0.996
6:54939744:T:A	V258D	0.996
6:54939789:T:C	F273S	0.996
6:54870338:C:A	A31D	0.995
6:54927623:G:A	G242D	0.995
6:54939715:G:C	W248C	0.995
6:54939715:G:T	W248C	0.995
6:54939798:T:C	L276P	0.995
6:54870332:G:C	R29P	0.994
6:54870569:G:C	W108S	0.994
6:54927622:G:C	G242R	0.994
6:54939768:T:A	V266D	0.994
6:54939809:T:C	S280P	0.994
6:54926462:T:C	L179P	0.993
6:54927601:G:C	D235H	0.993
6:54939737:A:C	S256R	0.993
6:54939739:C:A	S256R	0.993
6:54939739:C:G	S256R	0.993

dbSNP variants (sampled 300 via entrez): RS1000002498 (6:54928541 ACT>A), RS1000012911 (6:54866445 A>T), RS1000054973 (6:54854990 G>A), RS1000075802 (6:54889413 A>G,T), RS1000084997 (6:54942077 A>G,T), RS1000114071 (6:54918784 T>C), RS1000153876 (6:54936849 C>A), RS1000180290 (6:54849305 A>G), RS1000211623 (6:54884858 C>T), RS1000229425 (6:54863361 C>T), RS1000238068 (6:54849114 T>A), RS1000238201 (6:54909018 CGT>C), RS1000276330 (6:54861367 C>T), RS1000314222 (6:54885024 G>A,C), RS1000327309 (6:54915437 T>C,G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST002541_22	Menarche (age at onset)	1.000000e-12
GCST003518_62	Daytime sleep phenotypes	8.000000e-08
GCST005984_45	Glomerular filtration rate	1.000000e-13
GCST005986_9	Blood urea nitrogen levels	3.000000e-13
GCST007565_13	Morning person	2.000000e-14
GCST007565_208	Morning person	2.000000e-31
GCST007565_54	Morning person	6.000000e-19
GCST007565_92	Morning person	6.000000e-14
GCST008648_8	Urinary potassium excretion	3.000000e-09

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004703	age at menarche
EFO:0007828	daytime rest measurement
EFO:0008328	chronotype measurement
EFO:0009283	potassium measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066482 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 3 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.60	Kd	253.7	nM	CHEMBL5653589
6.60	ED50	253.7	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 4 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148366: Binding affinity to human FAM83B incubated for 45 mins by Kinobead based pull down assay	kd	0.2537	uM

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, affects cotreatment, increases expression	4
bisphenol A	increases expression, increases methylation	2
Benzo(a)pyrene	affects methylation, decreases methylation	2
Estradiol	decreases expression	2
Smoke	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
afimoxifene	decreases reaction, decreases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	increases methylation	1
coumarin	decreases phosphorylation	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
Sunitinib	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Calcitriol	increases expression	1
Estrogens	decreases reaction, decreases expression	1
Hydrogen Peroxide	increases expression	1
Methapyrilene	decreases methylation	1
Phenylmercuric Acetate	increases expression	1
Tobacco Smoke Pollution	increases expression	1
1-Naphthylamine	affects response to substance	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	decreases expression	1
Palmitic Acid	decreases phosphorylation	1
Okadaic Acid	increases expression	1
Lactic Acid	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651408	Binding	Binding affinity to human FAM83B incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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