SACK1A

Summary

SACK1A (scaffolding CK1 anchoring protein A, HGNC:28210) is a protein-coding gene on chromosome 8q24.13, encoding Protein FAM83A (Q86UY5). Involved in mitochondrial maintenance during adipogenesis.

Enables identical protein binding activity; phosphatidylinositol 3-kinase regulatory subunit binding activity; and protein kinase binding activity. Involved in cell population proliferation and epidermal growth factor receptor signaling pathway. Predicted to be located in cytoplasm.

Source: NCBI Gene 84985 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 83 total
• Druggable target: yes
• MANE Select transcript: NM_001394396

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28210
Approved symbol	SACK1A
Name	scaffolding CK1 anchoring protein A
Location	8q24.13
Locus type	gene with protein product
Status	Approved
Aliases	MGC14128, BJ-TSA-9
Ensembl gene	ENSG00000147689
Ensembl biotype	protein_coding
OMIM	621022
Entrez	84985

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 6 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000276699, ENST00000518448, ENST00000520541, ENST00000521468, ENST00000522648, ENST00000523412, ENST00000523819, ENST00000536633, ENST00000690554, ENST00000911073

RefSeq mRNA: 4 — MANE Select: NM_001394396 NM_001288587, NM_001394396, NM_032899, NM_207006

CCDS: CCDS6339, CCDS6340, CCDS75784

Canonical transcript exons

ENST00000690554 — 4 exons

Exon	Start	End
ENSE00003499030	123194024	123194148
ENSE00003640583	123191803	123191970
ENSE00003936688	123207157	123210078
ENSE00003937359	123182665	123183336

Expression profiles

Bgee: expression breadth ubiquitous, 153 present calls, max score 98.62.

FANTOM5 (CAGE): breadth broad, TPM avg 9.5549 / max 280.2035, expressed in 343 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
90474	3.8564	305
90473	2.3800	269
90477	1.9208	115
90476	0.6066	68
90475	0.4464	95
90480	0.1261	66
90478	0.1102	41
90472	0.0890	50
90479	0.0193	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	98.62	gold quality
esophagus mucosa	UBERON:0002469	95.15	gold quality
palpebral conjunctiva	UBERON:0001812	94.37	gold quality
pancreatic ductal cell	CL:0002079	92.38	silver quality
esophagus squamous epithelium	UBERON:0006920	91.91	gold quality
gingival epithelium	UBERON:0001949	87.23	gold quality
buccal mucosa cell	CL:0002336	87.20	gold quality
gingiva	UBERON:0001828	86.56	gold quality
tibialis anterior	UBERON:0001385	86.50	silver quality
eye	UBERON:0000970	85.98	gold quality
ileal mucosa	UBERON:0000331	85.81	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.69	gold quality
nasal cavity epithelium	UBERON:0005384	83.97	silver quality
epithelium of nasopharynx	UBERON:0001951	83.94	gold quality
vagina	UBERON:0000996	82.70	gold quality
upper arm skin	UBERON:0004263	82.51	silver quality
oral cavity	UBERON:0000167	81.30	gold quality
pharyngeal mucosa	UBERON:0000355	80.70	gold quality
mammalian vulva	UBERON:0000997	76.90	gold quality
amniotic fluid	UBERON:0000173	76.27	gold quality
deltoid	UBERON:0001476	76.04	silver quality
parotid gland	UBERON:0001831	75.18	gold quality
cerebellar vermis	UBERON:0004720	74.81	gold quality
cardiac muscle of right atrium	UBERON:0003379	74.62	gold quality
skin of abdomen	UBERON:0001416	74.60	gold quality
left ventricle myocardium	UBERON:0006566	74.48	gold quality
kidney epithelium	UBERON:0004819	73.45	gold quality
upper leg skin	UBERON:0004262	73.07	gold quality
trabecular bone tissue	UBERON:0002483	72.67	gold quality
epithelium of mammary gland	UBERON:0003244	71.73	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-GEOD-86618	yes	373.51
E-CURD-11	yes	238.13
E-GEOD-98556	yes	109.21
E-MTAB-9067	yes	13.02
E-GEOD-70580	no	36.40
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

61 targeting SACK1A, 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-12118	100.00	65.88	1270
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-4658	99.77	64.94	514
HSA-MIR-6790-5P	99.77	65.24	505
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-103A-1-5P	99.39	67.78	1545
HSA-MIR-103A-2-5P	99.39	67.72	1577
HSA-MIR-128-1-5P	99.33	60.46	332
HSA-MIR-128-2-5P	99.33	60.83	311
HSA-MIR-504-3P	99.30	67.18	1745
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-505-3P	99.19	69.71	896

Literature-anchored findings (GeneRIF, showing 28)

• Over-expression of BJ-TSA-9 is associated with lung cancer (PMID:16354590)
• The diagnostic value of BJ-TSA-9 was explored in combination with other known lung cancer markers for the detection of circulating cancer cells in lung cancer patients. (PMID:18514066)
• FAM83A interacted with and caused phosphorylation of c-RAF and PI3K p85, upstream of MAPK and downstream of EGFR. (PMID:22886303)
• Results show that FAM83A is overexpressed in HER2-positive breast cancer (HER2+ BC) and in trastuzumab-resistant breast cancer cell lines. Furthermore, knockdown of FAM83A expression severely inhibits proliferation and induces apoptosis in a panel of HER2+ BC cells. FAM83A could serve as a target for inhibiting the growth of all HER2+ BCs, including those that are resistant to trastuzumab. (PMID:28463969)
• LncRNA FAM83A-AS1 promotes lung adenocarcinoma by increasing FAM83A expression. (PMID:30659636)
• Results from TCGA and Oncomine databases revealed that FAM83A mRNA expression level was significantly higher in LUAD than that in normal lung tissues (both P<0.05). (PMID:31175804)
• FAM83A signaling induces epithelial-mesenchymal transition by the PI3K/AKT/Snail pathway in NSCLC. (PMID:31444970)
• A FAM83A Positive Feed-back Loop Drives Survival and Tumorigenicity of Pancreatic Ductal Adenocarcinomas. (PMID:31527715)
• Oncomine data analysis manifested that FAM83A mRNA expression was increased in lung adenocarcinoma (LUAD). Western blotting and immunohistochemistry revealed higher FAM83A expression in fresh LUAD tissues and paraffin samples than in the adjacent lung tissues. High FAM83A expression was significantly associated with lymph node involvement and clinical staging and was an independent predictive factor for poor survival. (PMID:31594212)
• Long noncoding RNA FAM83A-AS1 facilitates hepatocellular carcinoma progression by binding with NOP58 to enhance the mRNA stability of FAM83A. (PMID:31696213)
• FAM83A is amplified and promotes tumorigenicity in non-small cell lung cancer via ERK and PI3K/Akt/mTOR pathways. (PMID:32218702)
• FAM83A might be a potential biomarker and meaningful therapeutic target in LUAD (PMID:32282228)
• FAM83A drives PD-L1 expression via ERK signaling and FAM83A/PD-L1 co-expression correlates with poor prognosis in lung adenocarcinoma. (PMID:32430734)
• Hepatocellular carcinoma progression is protected by miRNA-34c-5p by regulating FAM83A. (PMID:32572919)
• FAM83A exerts tumorsuppressive roles in cervical cancer by regulating integrins. (PMID:32626940)
• Involvement of MicroRNA-1-FAM83A Axis Dysfunction in the Growth and Motility of Lung Cancer Cells. (PMID:33266425)
• LncRNA FAM83A-AS1 promotes lung adenocarcinoma progression by enhancing the pre-mRNA stability of FAM83A. (PMID:33687144)
• Family with sequence similarity 83 member A promotes tumor cell proliferation and metastasis and predicts poor prognosis in cervical cancer. (PMID:33962175)
• Signatures of Multi-Omics Reveal Distinct Tumor Immune Microenvironment Contributing to Immunotherapy in Lung Adenocarcinoma. (PMID:34539658)
• FAM83A promotes proliferation and metastasis via Wnt/beta-catenin signaling in head neck squamous cell carcinoma. (PMID:34641907)
• FAM83A has a pro-tumor function in ovarian cancer by affecting the Akt/Wnt/beta-catenin pathway. (PMID:34931434)
• LncRNA FAM83A-AS1 facilitates tumor proliferation and the migration via the HIF-1alpha/ glycolysis axis in lung adenocarcinoma. (PMID:35002507)
• Long non-coding RNA FEZF1-AS1 promotes rectal cancer progression by competitively binding miR-632 with FAM83A. (PMID:35607960)
• B-lymphoid tyrosine kinase-mediated FAM83A phosphorylation elevates pancreatic tumorigenesis through interacting with beta-catenin. (PMID:36797256)
• ncRNA-mediated upregulation of FAM83A is associated with poor prognosis and immune infiltration in pancreatic cancer. (PMID:37065746)
• High-risk histological subtype-related FAM83A hijacked FOXM1 transcriptional regulation to promote malignant progression in lung adenocarcinoma. (PMID:37904848)
• Sense and anti-sense: Role of FAM83A and FAM83A-AS1 in Wnt, EGFR, PI3K, EMT pathways and tumor progression. (PMID:38432129)
• Promotion of stem cell-like phenotype of lung adenocarcinoma by FAM83A via stabilization of ErbB2. (PMID:38942760)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fam83a	ENSMUSG00000051225
rattus_norvegicus	Fam83a	ENSRNOG00000006251

Paralogs (7): FAM83D (ENSG00000101447), FAM83E (ENSG00000105523), FAM83C (ENSG00000125998), FAM83F (ENSG00000133477), FAM83B (ENSG00000168143), FAM83H (ENSG00000180921), FAM83G (ENSG00000188522)

Protein

Protein identifiers

Protein FAM83A — Q86UY5 (reviewed: Q86UY5)

Alternative names: Tumor antigen BJ-TSA-9, Tumor-specific gene expressed in prostate protein

All UniProt accessions (1): Q86UY5

UniProt curated annotations — full annotation on UniProt →

Function. Involved in mitochondrial maintenance during adipogenesis. May be acting by playing a role in the maintenance of normal mitochondrial function.

Subunit / interactions. Directly interacts (via DUF1669) with casein kinase isoforms CSNK1A1, CSNK1A1L, CSNK1D and CSNK1E.

Subcellular location. Cytoplasm.

Post-translational modifications. Phosphorylated upon EGFR activation in a breast cancer cell line.

Disease relevance. FAM83A is considered a proto-oncogene. It is overexpressed in various human tumor types, including breast, lung, testis, ovary and bladder tumors. Elevated expression is associated with elevated tumor grade, decreased overall survival and resistance to several drugs. In cancer cells with FAM83A overexpression, may be important for the activation of RAF1 and phosphoinositide 3-kinase PIK3R1/PIK3R2 regulatory subunit p85, even in the absence of stimulus. In breast cancer cells, interacts with the regulatory subunit p85 of phosphoinositide 3-kinase PIK3R1/PIK3R2; this interaction is increased by EGF treatment. In breast cancer cells, interacts with RAF1; this interaction is increased by EGF treatment and leads to increased RAF1 activation.

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.

Isoforms (3)

UniProt ID	Names	Canonical?
Q86UY5-1	1, TSGP-L	yes
Q86UY5-2	2, TSGP-S
Q86UY5-3	3

RefSeq proteins (4): NP_001275516, NP_001381325, NP_116288, NP_996889 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012461	SACK1	Domain
IPR050944	FAM83	Family

Pfam: PF07894

UniProt features (37 total): strand 11, helix 7, splice variant 5, modified residue 4, region of interest 3, compositionally biased region 3, turn 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4URJ	X-RAY DIFFRACTION	2.68

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86UY5-F1	73.85	0.53

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): 357, 301, 327, 348

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-177929	Signaling by EGFR

MSigDB gene sets: 86 (showing top): GOBP_WHITE_FAT_CELL_DIFFERENTIATION, BILD_HRAS_ONCOGENIC_SIGNATURE, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GOBP_ERBB_SIGNALING_PATHWAY, GOBP_FAT_CELL_DIFFERENTIATION, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, BASAKI_YBX1_TARGETS_DN, GOBP_CONNECTIVE_TISSUE_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, NAKAMURA_METASTASIS_MODEL_DN, RICKMAN_HEAD_AND_NECK_CANCER_C, GOBP_ADIPOSE_TISSUE_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_CELL_SURFACE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY

GO Biological Process (5): epidermal growth factor receptor signaling pathway (GO:0007173), cell population proliferation (GO:0008283), white fat cell differentiation (GO:0050872), positive regulation of adipose tissue development (GO:1904179), RNA processing (GO:0006396)

GO Molecular Function (4): protein kinase binding (GO:0019901), phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (3): cytoplasm (GO:0005737), mitochondrion (GO:0005739), nucleolus (GO:0005730)

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
ERBB signaling pathway	1
cellular process	1
fat cell differentiation	1
positive regulation of developmental process	1
positive regulation of multicellular organismal process	1
adipose tissue development	1
regulation of adipose tissue development	1
gene expression	1
RNA biosynthetic process	1
primary metabolic process	1
kinase binding	1
phosphatidylinositol 3-kinase binding	1
protein binding	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
cytoplasm	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

992 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SACK1A	CSNK1A1	P48729	457
SACK1A	TBC1D31	Q96DN5	441
SACK1A	DERL1	Q9BUN8	428
SACK1A	ZHX3	Q9H4I2	426
SACK1A	DHX35	Q9H5Z1	424
SACK1A	ZKSCAN1	P17029	410
SACK1A	NOP58	Q9Y2X3	407
SACK1A	GGT7	Q9UJ14	406
SACK1A	ZHX2	Q9Y6X8	404
SACK1A	RPN2	P04844	401
SACK1A	ZSCAN12	O43309	400
SACK1A	RAB5IF	Q9BUV8	395
SACK1A	TTBK2	Q6IQ55	394
SACK1A	GPR87	Q9BY21	385
SACK1A	KIF22	Q14807	380
SACK1A	C1QTNF6	Q9BXI9	380

IntAct

115 interactions, top by confidence:

A	B	Type	Score
FAM83A	CSNK1E	psi-mi:“MI:0407”(direct interaction)	0.640
FAM83A		psi-mi:“MI:0915”(physical association)	0.560
TRIM27	FAM83A	psi-mi:“MI:0915”(physical association)	0.560
FAM83A	TRIM23	psi-mi:“MI:0915”(physical association)	0.560
	FAM83A	psi-mi:“MI:0915”(physical association)	0.560
FAM83A	TRIM27	psi-mi:“MI:0915”(physical association)	0.560
TRIM23	FAM83A	psi-mi:“MI:0915”(physical association)	0.560
PSMA3	FAM83A	psi-mi:“MI:0915”(physical association)	0.560
KRT34	FAM83A	psi-mi:“MI:0915”(physical association)	0.560
CYSRT1	FAM83A	psi-mi:“MI:0915”(physical association)	0.560
KRTAP6-3	FAM83A	psi-mi:“MI:0915”(physical association)	0.560
BHLHE40	FAM83A	psi-mi:“MI:0915”(physical association)	0.560
FAM83A	KRTAP8-1	psi-mi:“MI:0915”(physical association)	0.560
FAM83A	FAM83A	psi-mi:“MI:0915”(physical association)	0.560
DAZAP2	FAM83A	psi-mi:“MI:0915”(physical association)	0.560
NCK2	FAM83A	psi-mi:“MI:0915”(physical association)	0.560
FAM83A	PRDM14	psi-mi:“MI:0915”(physical association)	0.560
FOXH1	FAM83A	psi-mi:“MI:0915”(physical association)	0.560
QARS1	FAM83A	psi-mi:“MI:0915”(physical association)	0.560
KRTAP6-2	FAM83A	psi-mi:“MI:0915”(physical association)	0.560
FAM83A	GCC1	psi-mi:“MI:0915”(physical association)	0.560
FOXI1	FAM83A	psi-mi:“MI:0915”(physical association)	0.560
UBASH3A	FAM83A	psi-mi:“MI:0915”(physical association)	0.560
FAM83A	SMYD1	psi-mi:“MI:0915”(physical association)	0.560
FAM83A	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (44): FAM83A (Two-hybrid), FAM83A (Two-hybrid), MGAT5B (Two-hybrid), FAM83A (Affinity Capture-MS), FAM83A (Affinity Capture-MS), FAM83A (Affinity Capture-MS), FAM83A (Affinity Capture-MS), FAM83A (Affinity Capture-MS), FAM83A (Two-hybrid), FAM83A (Two-hybrid), FAM83A (Two-hybrid), FAM83A (Two-hybrid), FAM83A (Two-hybrid), FAM83A (Two-hybrid), FAM83A (Two-hybrid)

ESM2 similar proteins: A0A8M9QN10, A1L1G9, A3KN19, A4QP72, A6ND36, B0BF33, B0JZV4, E9Q0S6, F1QJF4, O00750, O70167, O70173, P0C6P5, P59997, P97433, Q08AE8, Q12923, Q1LU99, Q1LVK9, Q1LVV0, Q1LXR6, Q3U1T9, Q5EB20, Q5PQS0, Q5SWY7, Q5XGY0, Q5XK72, Q64512, Q66JF7, Q6IE82, Q6P9R4, Q6PF42, Q6ZUJ8, Q7TSI1, Q7ZVP1, Q803Q4, Q86UY5, Q8C033, Q8K2P2, Q8N1W1

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
FAM83A	“up-regulates quantity”	CSNK1A1	binding
FAM83A	“up-regulates quantity”	CSNK1A1L	binding
FAM83A	“up-regulates quantity”	CSNK1E	binding
FAM83A	“up-regulates quantity”	CSNK1D	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	66
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1291 predictions. Top by Δscore:

Variant	Effect	Δscore
8:123191966:TCAAG:T	donor_loss	1.0000
8:123191967:CAAGG:C	donor_loss	1.0000
8:123191968:AAGGT:A	donor_loss	1.0000
8:123191969:AGGTA:A	donor_loss	1.0000
8:123191970:GGTAG:G	donor_loss	1.0000
8:123191971:G:T	donor_loss	1.0000
8:123194022:A:AG	acceptor_gain	1.0000
8:123194023:G:GG	acceptor_gain	1.0000
8:123194023:GA:G	acceptor_gain	1.0000
8:123194023:GAAC:G	acceptor_gain	1.0000
8:123207151:CTCCA:C	acceptor_loss	1.0000
8:123207152:TCCAG:T	acceptor_loss	1.0000
8:123207153:CCA:C	acceptor_loss	1.0000
8:123207155:A:AG	acceptor_gain	1.0000
8:123207156:G:A	acceptor_loss	1.0000
8:123207156:G:GC	acceptor_gain	1.0000
8:123207156:GC:G	acceptor_gain	1.0000
8:123179139:T:G	donor_loss	0.9900
8:123180130:A:AG	acceptor_gain	0.9900
8:123180131:G:GG	acceptor_gain	0.9900
8:123189346:G:GG	donor_gain	0.9900
8:123194020:ACAG:A	acceptor_loss	0.9900
8:123194022:A:AC	acceptor_loss	0.9900
8:123194023:G:GT	acceptor_loss	0.9900
8:123194023:GAA:G	acceptor_gain	0.9900
8:123194023:GAACA:G	acceptor_gain	0.9900
8:123194144:TACAG:T	donor_loss	0.9900
8:123194145:ACAGG:A	donor_loss	0.9900
8:123194146:CAG:C	donor_loss	0.9900
8:123194148:GGTGA:G	donor_loss	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000136647 (8:123205445 T>G), RS1000300310 (8:123192680 T>C), RS1000610196 (8:123179809 C>T), RS1000671024 (8:123179193 G>A), RS1000673961 (8:123178548 C>G,T), RS1000767404 (8:123199599 T>C), RS1000785557 (8:123184657 T>C), RS1000874851 (8:123201488 G>A), RS1001088974 (8:123182198 G>C), RS1001091661 (8:123187965 A>G), RS1001248172 (8:123209680 G>A), RS1001249393 (8:123178603 C>A), RS1001470504 (8:123189438 T>A), RS1001501801 (8:123206341 G>A,C), RS1001562633 (8:123197852 G>A)

Disease associations

OMIM: gene MIM:621022 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST002376_4	Urinary uromodulin levels	9.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005663	urinary uromodulin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067098 (SINGLE PROTEIN)

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

ChEMBL bioactivities

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

pChembl	Type	Value	Unit	Molecule
7.81	Kd	15.36	nM	CHEMBL5653589
7.76	ED50	17.43	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 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	2148365: Binding affinity to human FAM83A incubated for 45 mins by Kinobead based pull down assay	kd	0.0154	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, affects methylation, decreases reaction, affects acetylation, decreases expression (+2 more)	3
Tobacco Smoke Pollution	affects expression, increases expression	3
monomethylarsonous acid	affects acetylation, affects methylation, decreases expression, increases methylation	2
Estradiol	increases expression, decreases expression, affects cotreatment	2
bisphenol A	decreases methylation, affects cotreatment	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression	1
trichostatin A	affects cotreatment, affects methylation, decreases reaction	1
arsenite	decreases expression, increases methylation	1
sulforaphane	decreases expression	1
butyraldehyde	decreases expression	1
aflatoxin B2	increases methylation	1
CGP 52608	affects binding, increases reaction	1
chloropicrin	decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
abrine	decreases expression	1
MK 2206	decreases reaction, increases expression, increases phosphorylation	1
Decitabine	affects cotreatment, affects methylation, decreases reaction	1
Fulvestrant	affects cotreatment, decreases methylation	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Diazinon	increases methylation	1
Furaldehyde	decreases expression, affects cotreatment, affects localization	1
Gasoline	affects cotreatment, increases abundance, increases expression	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, increases abundance, increases expression	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Sodium Chloride	affects cotreatment, affects localization, decreases expression, increases expression	1
Testosterone	decreases expression	1
Tretinoin	increases expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	increases methylation	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
CHEMBL5651407	Binding	Binding affinity to human FAM83A 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

Cellosaurus cell lines

5 cell lines: 4 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E1WV	HAP1 FAM83A (-) 1	Cancer cell line	Male
CVCL_E1WW	HAP1 FAM83A (-) 2	Cancer cell line	Male
CVCL_E1WX	HAP1 FAM83A (-) 3	Cancer cell line	Male
CVCL_F1M0	HyCyte A-549 KO-hFAM83A	Cancer cell line	Male
CVCL_F1P9	HyCyte HEK293 KO-hFAM83A	Transformed cell line	Female

Clinical trials (associated diseases)

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