FAM3C

Summary

FAM3C (FAM3 metabolism regulating signaling molecule C, HGNC:18664) is a protein-coding gene on chromosome 7q31.31, encoding Protein FAM3C (Q92520). May be involved in retinal laminar formation.

This gene is a member of the family with sequence similarity 3 (FAM3) family and encodes a secreted protein with a GG domain. A change in expression of this protein has been noted in pancreatic cancer-derived cells.

Source: NCBI Gene 10447 — RefSeq curated summary.

At a glance

• GWAS associations: 24
• Clinical variants (ClinVar): 35 total
• Druggable target: yes
• MANE Select transcript: NM_014888

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18664
Approved symbol	FAM3C
Name	FAM3 metabolism regulating signaling molecule C
Location	7q31.31
Locus type	gene with protein product
Status	Approved
Aliases	GS3876, ILEI
Ensembl gene	ENSG00000196937
Ensembl biotype	protein_coding
OMIM	608618
Entrez	10447

Gene structure

Transcript identifiers

Ensembl transcripts: 34 — 32 protein_coding, 2 retained_intron

ENST00000359943, ENST00000412653, ENST00000426156, ENST00000474082, ENST00000497622, ENST00000850865, ENST00000892184, ENST00000892185, ENST00000892186, ENST00000892187, ENST00000892188, ENST00000892189, ENST00000892190, ENST00000892191, ENST00000892192, ENST00000892193, ENST00000892194, ENST00000892195, ENST00000892196, ENST00000892197, ENST00000892198, ENST00000892199, ENST00000892200, ENST00000892201, ENST00000892202, ENST00000951274, ENST00000951275, ENST00000951276, ENST00000951277, ENST00000951278, ENST00000951279, ENST00000951280, ENST00000951281, ENST00000951282

RefSeq mRNA: 2 — MANE Select: NM_014888 NM_001040020, NM_014888

CCDS: CCDS5782

Canonical transcript exons

ENST00000359943 — 10 exons

Exon	Start	End
ENSE00000719286	121351143	121351269
ENSE00000719288	121360043	121360127
ENSE00000719292	121362897	121362947
ENSE00000719296	121364130	121364188
ENSE00000881982	121371300	121371423
ENSE00001018745	121372110	121372139
ENSE00001601063	121396162	121396308
ENSE00003516756	121378910	121379014
ENSE00003569948	121382957	121383010
ENSE00004282563	121348878	121350550

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.65.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.7146 / max 734.6117, expressed in 1799 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
85903	30.5156	1799
85904	0.1990	92

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
jejunal mucosa	UBERON:0000399	99.65	gold quality
calcaneal tendon	UBERON:0003701	99.27	gold quality
pons	UBERON:0000988	99.19	gold quality
duodenum	UBERON:0002114	98.78	gold quality
cortical plate	UBERON:0005343	98.59	gold quality
lateral nuclear group of thalamus	UBERON:0002736	97.98	gold quality
germinal epithelium of ovary	UBERON:0001304	97.62	gold quality
pericardium	UBERON:0002407	97.40	gold quality
mammalian vulva	UBERON:0000997	97.30	gold quality
endometrium	UBERON:0001295	97.27	gold quality
jejunum	UBERON:0002115	97.27	gold quality
mucosa of sigmoid colon	UBERON:0004993	97.27	gold quality
parietal pleura	UBERON:0002400	97.26	gold quality
epithelium of nasopharynx	UBERON:0001951	97.23	gold quality
tibia	UBERON:0000979	97.21	gold quality
orbitofrontal cortex	UBERON:0004167	97.21	gold quality
heart right ventricle	UBERON:0002080	97.10	gold quality
cardia of stomach	UBERON:0001162	97.08	gold quality
vena cava	UBERON:0004087	97.06	gold quality
mucosa of paranasal sinus	UBERON:0005030	97.05	gold quality
body of pancreas	UBERON:0001150	97.04	gold quality
upper leg skin	UBERON:0004262	96.85	gold quality
urethra	UBERON:0000057	96.83	gold quality
synovial joint	UBERON:0002217	96.80	gold quality
parietal lobe	UBERON:0001872	96.77	gold quality
postcentral gyrus	UBERON:0002581	96.71	gold quality
Brodmann (1909) area 23	UBERON:0013554	96.68	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.60	gold quality
pylorus	UBERON:0001166	96.59	gold quality
ventricular zone	UBERON:0003053	96.58	gold quality

Single-cell (SCXA)

Detected in 10 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-CURD-88	yes	88.78
E-MTAB-9467	yes	45.37
E-GEOD-84465	yes	23.67
E-MTAB-8142	yes	17.88
E-ANND-3	yes	15.12
E-HCAD-13	yes	12.43
E-CURD-122	yes	12.25
E-MTAB-10553	yes	10.21
E-MTAB-7051	no	219.55
E-CURD-114	no	23.96

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

143 targeting FAM3C, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-3658	99.96	73.87	4379

Literature-anchored findings (GeneRIF, showing 26)

• A cytokine-like protein found in almost all tissues. (PMID:12160727)
• ILEI is overexpressed and/or altered in intracellular localization in multiple human tumors. (PMID:16959614)
• Data show that FAM3C is decreased in the CSF of temporal lobe epilepsy patients. (PMID:19109932)
• At the FAM3C gene locus where rs7776725 was located, we identified several other SNPs (rs4727922, rs1803389, rs718766 and rs7793554) that were also associated with BMD. (PMID:22159821)
• ILEI could induce, as well as maintain, CD24(low)CD44(high) subpopulation in A549 cells treated with TGF-beta, which might explain its capability to induce metastatic progression. (PMID:24072492)
• Our findings indicate that cytoplasmic ILEI expression is a potential marker of EMT and tumour progression in colorectal cancer. ILEI is an independent predictive factor associated with poor prognosis in colorectal cancer. (PMID:24738665)
• Altered subcellular ILEI localization strongly correlates with high tumor cell-associated uPAR protein expression. (PMID:25212966)
• FAM3C expression was dramatically increased in esophageal squamous cell carcinoma and might serve as a valuable prognostic indicator for esophageal squamous cell carcinoma patients after surgery (PMID:26498278)
• Study used immunohistochemical staining and biochemical fractionation to examine the regional distribution and subcellular localization of ILEI in mouse brains and in autopsy brains of patients with Alzheimer’s disease; results suggest that a decline of ILEI expression may cause accumulation of Abeta in the brain and the eventual development of Alzheimer’s disease. (PMID:27256505)
• Ectopic overexpression of UBE4A, but not UBE3C, in cells was downregulated in vitro migration and invasion in these cells. Cumulatively, our data reveals a novel post-translational regulatory mechanism of regulating ILEI1 expression, a protein required for metastatic progression in prostate cancer cells (PMID:27862841)
• Results demonstrate that phenotype switching regulates ILEI expression, and that ILEI regulates partial phenotype switching in MITF-low melanoma cell lines. (PMID:28545079)
• Data suggest that ILEI does not form interleukin-like four helix-bundle structures; ILEI exists as monomers and as covalent dimers; ILEI dimer exhibits a trans-linked domain swap converting an intramolecular disulfide to an intermolecular disulfide; dimeric ILEI appears to be involved in neoplastic invasiveness. (PMID:28751379)
• Covalent dimerization of ILEI is associated with breast cancer metastasis. (PMID:28837266)
• The ILEI appears to play a crucial role in mediating TGF-beta1-induced EMT through the Akt and ERK pathways, which may provide a therapeutic target for the treatment of fibrotic kidney diseases. (PMID:29336056)
• ILEI contributes to melanoma cell invasiveness in vivo without affecting primary tumor growth and is transcriptionally up-regulated by USF-1. (PMID:29871931)
• In conclusion, these findings suggested that overexpression of FAM3C in human oral squamous cell carcinoma may predict a poor prognosis for oral squamous cell carcinoma patients. (PMID:30683473)
• ILEI signaling plays a role in the breast cancer tumor progression.ILEI binds to the cytokine receptor LIFR. (PMID:30692635)
• FAM3C-YY1-HSF1 pathway plays an important role in TGFbeta-triggered proliferation and migration of human breast cancer MDA-MB-231 cells. (PMID:30887707)
• miR-574-3p inhibits proliferation and invasion in esophageal cancer by targeting FAM3C and MAPK1. (PMID:31880039)
• Genetic variants in the FAM3C gene are associated with lipid traits in Chinese children. (PMID:32316026)
• Extracellular Release of ILEI/FAM3C and Amyloid-beta Is Associated with the Activation of Distinct Synapse Subpopulations. (PMID:33492290)
• The FAM3C locus that encodes interleukin-like EMT inducer (ILEI) is frequently co-amplified in MET-amplified cancers and contributes to invasiveness. (PMID:33596971)
• DEAH-box polypeptide 32 promotes hepatocellular carcinoma progression via activating the beta-catenin pathway. (PMID:33729094)
• Transcriptional downregulation of FAM3C/ILEI in the Alzheimer’s brain. (PMID:34378027)
• FAM3C in circulating tumor-derived extracellular vesicles promotes non-small cell lung cancer growth in secondary sites. (PMID:36632230)
• FAM3C in Cancer-Associated Adipocytes Promotes Breast Cancer Cell Survival and Metastasis. (PMID:38117489)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam3c	ENSDARG00000056152
mus_musculus	Fam3c	ENSMUSG00000029672
rattus_norvegicus	Fam3c	ENSRNOG00000060349
caenorhabditis_elegans		WBGENE00019786

Paralogs (3): FAM3A (ENSG00000071889), FAM3B (ENSG00000183844), FAM3D (ENSG00000198643)

Protein

Protein identifiers

Protein FAM3C — Q92520 (reviewed: Q92520)

Alternative names: Interleukin-like EMT inducer

All UniProt accessions (3): C9JMN4, C9JP35, Q92520

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in retinal laminar formation. Promotes epithelial to mesenchymal transition.

Subcellular location. Secreted. Cytoplasmic vesicle.

Tissue specificity. Present in most secretory epithelia (at protein level).

Miscellaneous. Up-regulation and/or mislocalization in breast cancer and liver carcinoma cells is strongly correlated with metastasis formation and survival.

Similarity. Belongs to the FAM3 family.

RefSeq proteins (2): NP_001035109, NP_055703* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR039220	FAM3	Family
IPR039475	ILEI_FAM3C	Domain
IPR039477	ILEI/PANDER_dom	Domain

Pfam: PF15711

UniProt features (25 total): strand 10, turn 6, helix 4, disulfide bond 2, signal peptide 1, chain 1, domain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
5LC2	X-RAY DIFFRACTION	1.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92520-F1	91.82	0.80

Functional residue map

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

Disulfide bonds (2): 58–86, 64–221

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-114608	Platelet degranulation

MSigDB gene sets: 285 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_EPITHELIUM_DEVELOPMENT, SWEET_KRAS_ONCOGENIC_SIGNATURE, GOBP_INFLAMMATORY_RESPONSE, GOCC_SECRETORY_GRANULE, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, GOBP_KERATINOCYTE_PROLIFERATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MYELOID_LEUKOCYTE_DIFFERENTIATION, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, DAVICIONI_RHABDOMYOSARCOMA_PAX_FOXO1_FUSION_UP, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_UP, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_CDC25_UP, FISCHER_G2_M_CELL_CYCLE

GO Biological Process (7): inflammatory response (GO:0006954), epidermal cell differentiation (GO:0009913), gene expression (GO:0010467), neutrophil differentiation (GO:0030223), phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0043491), keratinocyte proliferation (GO:0043616), ERK1 and ERK2 cascade (GO:0070371)

GO Molecular Function (3): cytokine activity (GO:0005125), carbohydrate binding (GO:0030246), protein binding (GO:0005515)

GO Cellular Component (6): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), Golgi apparatus (GO:0005794), platelet dense granule lumen (GO:0031089), extracellular exosome (GO:0070062), cytoplasmic vesicle (GO:0031410)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Response to elevated platelet cytosolic Ca2+	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
cytoplasm	2
defense response	1
epidermis development	1
epithelial cell differentiation	1
macromolecule biosynthetic process	1
granulocyte differentiation	1
intracellular signaling cassette	1
epithelial cell proliferation	1
MAPK cascade	1
receptor ligand activity	1
cellular anatomical structure	1
endomembrane system	1
intracellular membrane-bounded organelle	1
secretory granule lumen	1
platelet dense granule	1
extracellular vesicle	1
intracellular vesicle	1

Protein interactions and networks

STRING

680 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM3C	LAMP1	P11279	757
FAM3C	HLA-C	P04222	700
FAM3C	PDCD1	Q15116	672
FAM3C	CPED1	A4D0V7	655
FAM3C	PCBP1	Q15365	530
FAM3C	WNT16	Q9UBV4	506
FAM3C	CXADR	P78310	499
FAM3C	DAB2	P98082	446
FAM3C	TIGIT	Q495A1	446
FAM3C	PDCD1LG2	Q9BQ51	440
FAM3C	KLRB1	Q12918	435
FAM3C	IFNAR2	P48551	393
FAM3C	IL1R1	P14778	393
FAM3C	IFNG	P01579	392
FAM3C	SPRR3	Q9UBC9	389
FAM3C	TMUB1	Q9BVT8	389

IntAct

231 interactions, top by confidence:

A	B	Type	Score
FAM3C	CREB3L1	psi-mi:“MI:0915”(physical association)	0.670
CREB3L1	FAM3C	psi-mi:“MI:0915”(physical association)	0.670
HLA-C	HLA-A	psi-mi:“MI:0914”(association)	0.670
NIPAL1	ESYT2	psi-mi:“MI:0914”(association)	0.640
FAM3C	BNIP3	psi-mi:“MI:0915”(physical association)	0.560
FAM3C	SLC39A2	psi-mi:“MI:0915”(physical association)	0.560
FAM3C	ERVFRD-1	psi-mi:“MI:0915”(physical association)	0.560
FAM3C	AMIGO1	psi-mi:“MI:0915”(physical association)	0.560
FAM3C	NECTIN1	psi-mi:“MI:0915”(physical association)	0.560
FAM3C	FNDC9	psi-mi:“MI:0915”(physical association)	0.560
FAM3C	SORT1	psi-mi:“MI:0915”(physical association)	0.560
FAM3C	IL7R	psi-mi:“MI:0915”(physical association)	0.560
FAM3C	AQP2	psi-mi:“MI:0915”(physical association)	0.560
FAM3C	TM4SF18	psi-mi:“MI:0915”(physical association)	0.560
FAM3C	TEX29	psi-mi:“MI:0915”(physical association)	0.560
FAM3C	FKBP7	psi-mi:“MI:0915”(physical association)	0.560
FAM3C	TMX2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (156): CREB3L1 (Two-hybrid), FAM3C (Affinity Capture-MS), FAM3C (Affinity Capture-MS), FAM3C (Affinity Capture-MS), FAM3C (Affinity Capture-MS), FAM3C (Affinity Capture-MS), FAM3C (Affinity Capture-MS), FAM3C (Affinity Capture-MS), FAM3C (Affinity Capture-MS), CREB3 (Two-hybrid), UBE4A (Affinity Capture-MS), UBE3C (Affinity Capture-MS), FAM3C (Affinity Capture-Western), FAM3C (Affinity Capture-MS), FAM3C (Affinity Capture-MS)

ESM2 similar proteins: A5PKI3, A7E2Z9, A8MWY0, B0BLS9, D4A1F2, F1MF74, O94851, P58335, P58499, P97259, P97675, P97805, Q04499, Q08834, Q09328, Q0ZHH6, Q2M146, Q3UZV7, Q58D72, Q5EBA1, Q5I598, Q5R4P1, Q60HD2, Q6DD88, Q6DDW2, Q6DFX2, Q6DYE8, Q6GQC1, Q6NVG7, Q6PA06, Q6PST4, Q7ZYY4, Q80YD1, Q810F4, Q8BH66, Q8BML1, Q8IYB8, Q8K1B9, Q8NHH9, Q8R4G6

Diamond homologs: A5PKI3, B0BLS9, P58499, P97805, P98173, Q5R5C3, Q6GQC1, Q7ZYY4, Q810F4, Q8BI06, Q8WUJ3, Q91VU0, Q92520, Q96BQ1, Q9D309, Q9D8T0, Q5EAB6, Q5RCB9, Q5XIN7, Q8WZA1, Q91X88, A3KPQ7, E2RK30, E9PZ36, P08F94, Q54KF6, Q5FWI3, Q9UHN6

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
FAM3C	“up-regulates activity”	LIFR	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	22
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2093 predictions. Top by Δscore:

Variant	Effect	Δscore
7:121360037:ACAT:A	donor_loss	1.0000
7:121360038:CAT:C	donor_loss	1.0000
7:121360038:CATA:C	donor_gain	1.0000
7:121360039:ATA:A	donor_loss	1.0000
7:121360040:T:TG	donor_loss	1.0000
7:121360041:A:AC	donor_gain	1.0000
7:121360041:A:AG	donor_loss	1.0000
7:121360042:C:CC	donor_gain	1.0000
7:121360123:CACAT:C	acceptor_gain	1.0000
7:121360125:CAT:C	acceptor_gain	1.0000
7:121360127:TC:T	acceptor_loss	1.0000
7:121360128:C:CA	acceptor_loss	1.0000
7:121360128:C:CC	acceptor_gain	1.0000
7:121360129:T:G	acceptor_loss	1.0000
7:121364189:C:CC	acceptor_gain	1.0000
7:121371298:A:AC	donor_gain	1.0000
7:121371299:C:CC	donor_gain	1.0000
7:121371299:CA:C	donor_gain	1.0000
7:121371425:T:C	acceptor_gain	1.0000
7:121371426:T:C	acceptor_gain	1.0000
7:121371426:T:TC	acceptor_gain	1.0000
7:121372105:CTT:C	donor_loss	1.0000
7:121372106:TTA:T	donor_loss	1.0000
7:121372107:TAC:T	donor_loss	1.0000
7:121372108:A:AC	donor_gain	1.0000
7:121372108:ACAAC:A	donor_loss	1.0000
7:121372109:C:CG	donor_gain	1.0000
7:121372109:CA:C	donor_gain	1.0000
7:121372109:CAA:C	donor_gain	1.0000
7:121372136:CTTG:C	acceptor_gain	1.0000

AlphaMissense

1496 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:121350483:C:G	C221S	1.000
7:121350484:A:G	C221R	1.000
7:121350484:A:T	C221S	1.000
7:121350487:C:G	G220R	1.000
7:121350487:C:T	G220R	1.000
7:121350507:G:T	P213H	1.000
7:121350509:C:A	W212C	1.000
7:121350509:C:G	W212C	1.000
7:121350510:C:G	W212S	1.000
7:121350511:A:G	W212R	1.000
7:121350511:A:T	W212R	1.000
7:121350519:T:C	Y209C	1.000
7:121350520:A:G	Y209H	1.000
7:121350524:G:C	N207K	1.000
7:121350524:G:T	N207K	1.000
7:121351180:C:T	G186D	1.000
7:121351191:C:A	W182C	1.000
7:121351191:C:G	W182C	1.000
7:121351193:A:G	W182R	1.000
7:121351193:A:T	W182R	1.000
7:121351198:T:A	D180V	1.000
7:121351200:T:A	R179S	1.000
7:121351200:T:G	R179S	1.000
7:121351201:C:A	R179I	1.000
7:121351201:C:G	R179T	1.000
7:121351203:A:C	F178L	1.000
7:121351203:A:T	F178L	1.000
7:121351205:A:G	F178L	1.000
7:121351227:G:C	S170R	1.000
7:121351227:G:T	S170R	1.000

dbSNP variants (sampled 300 via entrez): RS1000024291 (7:121372684 T>C), RS1000115553 (7:121376670 G>A), RS1000142013 (7:121359618 A>G), RS1000244679 (7:121388208 C>T), RS1000271839 (7:121369890 G>A), RS1000283192 (7:121369575 G>A), RS1000352057 (7:121356550 T>C), RS1000463792 (7:121363030 A>T), RS1000554208 (7:121376287 G>A,C), RS1000610963 (7:121371592 A>C), RS1000631074 (7:121362725 T>A,C), RS1000665171 (7:121369924 T>A), RS1000688163 (7:121358166 T>A), RS1000699972 (7:121387828 C>T), RS1000766278 (7:121350610 G>A,T)

Disease associations

OMIM: gene MIM:608618 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

24 associations (top):

Study	Trait	p-value
GCST000381_6	Biomedical quantitative traits	2.000000e-06
GCST000381_8	Biomedical quantitative traits	1.000000e-11
GCST002492_1	Bone mineral density (paediatric, lower limb)	3.000000e-11
GCST002492_10	Bone mineral density (paediatric, lower limb)	1.000000e-09
GCST002493_15	Bone mineral density (paediatric, skull)	3.000000e-22
GCST002493_16	Bone mineral density (paediatric, skull)	2.000000e-28
GCST002494_15	Bone mineral density (paediatric, total body less head)	2.000000e-15
GCST002494_3	Bone mineral density (paediatric, total body less head)	6.000000e-20
GCST002496_11	Bone mineral density (paediatric, upper limb)	1.000000e-37
GCST002496_7	Bone mineral density (paediatric, upper limb)	3.000000e-32
GCST002952_3	Pediatric bone mineral content (radius)	3.000000e-08
GCST004494_1	Hand grip strength	6.000000e-07
GCST004744_28	Lung adenocarcinoma	3.000000e-06
GCST005546_1	Forearm bone mineral density	1.000000e-25
GCST006288_654	Heel bone mineral density	1.000000e-12
GCST006288_762	Heel bone mineral density	5.000000e-09
GCST006443_4	Total body bone mineral density	2.000000e-06
GCST006446_2	Ulna and radius bone mineral density	2.000000e-10
GCST006979_209	Heel bone mineral density	2.000000e-12
GCST006979_210	Heel bone mineral density	2.000000e-20
GCST006979_211	Heel bone mineral density	8.000000e-12
GCST006979_212	Heel bone mineral density	2.000000e-12
GCST007616_3	Calcaneus stiffness index	3.000000e-13
GCST008755_8	Phenylephrine infusion rate during anesthesia	3.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0007621	bone mineral content measurement
EFO:0006941	grip strength measurement
EFO:0007933	radius bone mineral density
EFO:0009270	heel bone mineral density

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4742304 (PROTEIN-PROTEIN INTERACTION)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, decreases methylation, increases expression	7
bisphenol A	decreases expression, decreases methylation	3
trichostatin A	affects cotreatment, increases expression	3
Tretinoin	increases expression, decreases expression	3
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	2
Benzo(a)pyrene	decreases methylation, increases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
Isotretinoin	increases expression, decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
4-oxoretinoic acid	increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
uranyl acetate	affects expression	1
sodium arsenate	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, increases expression	1
quercitrin	increases expression	1
methylparaben	decreases expression	1
sodium arsenite	affects methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
nickel sulfate	decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
avobenzone	increases expression	1
K 7174	increases expression	1
ICG 001	decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
LDN 193189	affects cotreatment, decreases expression	1
Irinotecan	decreases expression	1
Vorinostat	decreases 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
CHEMBL4713762	Binding	Protac activity at CRBN/FAM3C in human BxPC-3 cells assessed as FAM3C degradation incubated for 16 hrs by proteomic analysis	Discovery of a Napabucasin PROTAC as an Effective Degrader of the E3 Ligase ZFP91. — J Med Chem

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1RV	Abcam HeLa FAM3C KO	Cancer cell line	Female

Clinical trials (associated diseases)

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