FNIP2

Summary

FNIP2 (folliculin interacting protein 2, HGNC:29280) is a protein-coding gene on chromosome 4q32.1, encoding Folliculin-interacting protein 2 (Q9P278). Binding partner of the GTPase-activating protein FLCN: involved in the cellular response to amino acid availability by regulating the non-canonical mTORC1 signaling cascade controlling the MiT/TFE factors TFEB and TFE3.

This gene encodes a protein that binds to the tumor suppressor folliculin and to AMP-activated protein kinase (AMPK), and may play a role cellular metabolism and nutrient sensing by regulating the AMPK-mechanistic target of rapamycin signaling pathway. The encoded protein may also be involved in regulating the O6-methylguanine-induced apoptosis signaling pathway. This gene has a closely related paralog that encodes a protein with similar binding activities. Both related proteins also associate with the molecular chaperone heat shock protein-90 (Hsp90) and negatively regulate its ATPase activity and facilitate its association with folliculin.

Source: NCBI Gene 57600 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 150 total
• MANE Select transcript: NM_020840

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29280
Approved symbol	FNIP2
Name	folliculin interacting protein 2
Location	4q32.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1450, FNIPL, MAPO1
Ensembl gene	ENSG00000052795
Ensembl biotype	protein_coding
OMIM	612768
Entrez	57600

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 5 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000264433, ENST00000504704, ENST00000504715, ENST00000505130, ENST00000505445, ENST00000512986, ENST00000956830, ENST00000956831

RefSeq mRNA: 4 — MANE Select: NM_020840 NM_001323916, NM_001346043, NM_001366843, NM_020840

CCDS: CCDS47155

Canonical transcript exons

ENST00000264433 — 17 exons

Exon	Start	End
ENSE00000440099	158870313	158870469
ENSE00000740288	158835405	158835476
ENSE00000740294	158851321	158851450
ENSE00000740302	158859057	158859258
ENSE00000740305	158859578	158859666
ENSE00000740308	158861342	158861488
ENSE00000740310	158861607	158861776
ENSE00000740311	158868102	158869428
ENSE00000740317	158891446	158891646
ENSE00000740318	158895750	158895865
ENSE00001170852	158769026	158769319
ENSE00001281827	158833528	158833628
ENSE00002044646	158904466	158908050
ENSE00003496407	158825916	158826042
ENSE00003550172	158831861	158831961
ENSE00003625567	158829079	158829225
ENSE00003626205	158832067	158832138

Expression profiles

Bgee: expression breadth ubiquitous, 262 present calls, max score 99.61.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.8958 / max 1821.5434, expressed in 1771 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
50311	14.5004	1718
50313	6.3967	1160
50324	4.1859	262
50321	3.7679	273
50312	1.5914	596
50310	1.2453	841
50325	1.1361	168
50318	0.3999	90
50320	0.2831	99
50322	0.1334	63

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
kidney epithelium	UBERON:0004819	99.61	gold quality
secondary oocyte	CL:0000655	99.09	gold quality
pancreatic ductal cell	CL:0002079	98.49	gold quality
ileal mucosa	UBERON:0000331	97.57	gold quality
left ventricle myocardium	UBERON:0006566	97.19	gold quality
renal medulla	UBERON:0000362	97.18	gold quality
cardiac muscle of right atrium	UBERON:0003379	97.16	gold quality
epithelial cell of pancreas	CL:0000083	96.73	gold quality
oocyte	CL:0000023	96.60	gold quality
vena cava	UBERON:0004087	96.15	gold quality
visceral pleura	UBERON:0002401	96.12	gold quality
myocardium	UBERON:0002349	96.11	gold quality
postcentral gyrus	UBERON:0002581	96.09	gold quality
saphenous vein	UBERON:0007318	96.08	gold quality
lower lobe of lung	UBERON:0008949	96.05	gold quality
mucosa of sigmoid colon	UBERON:0004993	95.89	gold quality
parietal lobe	UBERON:0001872	95.68	gold quality
colonic mucosa	UBERON:0000317	95.48	gold quality
pylorus	UBERON:0001166	95.47	gold quality
entorhinal cortex	UBERON:0002728	95.45	gold quality
layer of synovial tissue	UBERON:0007616	95.16	gold quality
heart right ventricle	UBERON:0002080	95.00	gold quality
sperm	CL:0000019	94.92	gold quality
Brodmann (1909) area 23	UBERON:0013554	94.91	gold quality
trabecular bone tissue	UBERON:0002483	94.89	gold quality
cardia of stomach	UBERON:0001162	94.76	gold quality
islet of Langerhans	UBERON:0000006	94.14	gold quality
tibialis anterior	UBERON:0001385	94.09	gold quality
upper arm skin	UBERON:0004263	94.01	gold quality
skin of hip	UBERON:0001554	93.88	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-8530	yes	794.90
E-ANND-3	yes	19.16
E-GEOD-125970	yes	13.33
E-GEOD-81383	no	258.12

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
GPNMB	Repression

Upstream regulators (CollecTRI, top): FLCN, TFE3

miRNA regulators (miRDB)

205 targeting FNIP2, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-548C-3P	99.99	74.01	7587
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-4500	99.99	72.72	2367
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4775	99.98	75.00	6394

Literature-anchored findings (GeneRIF, showing 6)

• The identification and characterization of a novel FNIP1 homolog FNIP2 that also interacts with FLCN and AMPK, is reported. (PMID:18403135)
• this study obtained evidence to show that stabilization of MAPO1 is regulated through its specific interaction with folliculin and AMPK. (PMID:23201403)
• SCFbeta-TRCP negatively regulates the FLCN complex by promoting FNIP2 degradation in Birt-Hogg-Dube syndrome-associated renal cancer. (PMID:28039480)
• Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells. (PMID:33459596)
• Folliculin-interacting protein FNIP2 impacts on overweight and obesity through a polymorphism in a conserved 3’ untranslated region. (PMID:36316722)
• Direct regulation of FNIP1 and FNIP2 by MEF2 sustains MTORC1 activation and tumor progression in pancreatic cancer. (PMID:37772772)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	fnip2	ENSDARG00000077648
mus_musculus	Fnip2	ENSMUSG00000061175
rattus_norvegicus	Fnip2	ENSRNOG00000027833
drosophila_melanogaster	CG3764	FBGN0036684
caenorhabditis_elegans		WBGENE00020208

Paralogs (1): FNIP1 (ENSG00000217128)

Protein

Protein identifiers

Folliculin-interacting protein 2 — Q9P278 (reviewed: Q9P278)

Alternative names: FNIP1-like protein, O6-methylguanine-induced apoptosis 1 protein

All UniProt accessions (3): D6RFH5, Q9P278, H0Y8F3

UniProt curated annotations — full annotation on UniProt →

Function. Binding partner of the GTPase-activating protein FLCN: involved in the cellular response to amino acid availability by regulating the non-canonical mTORC1 signaling cascade controlling the MiT/TFE factors TFEB and TFE3. Required to promote FLCN recruitment to lysosomes and interaction with Rag GTPases, leading to activation of the non-canonical mTORC1 signaling. In low-amino acid conditions, component of the lysosomal folliculin complex (LFC) on the membrane of lysosomes, which inhibits the GTPase-activating activity of FLCN, thereby inactivating mTORC1 and promoting nuclear translocation of TFEB and TFE3. Upon amino acid restimulation, disassembly of the LFC complex liberates the GTPase-activating activity of FLCN, leading to activation of mTORC1 and subsequent inactivation of TFEB and TFE3. Together with FLCN, regulates autophagy: following phosphorylation by ULK1, interacts with GABARAP and promotes autophagy. In addition to its role in mTORC1 signaling, also acts as a co-chaperone of HSP90AA1/Hsp90: inhibits the ATPase activity of HSP90AA1/Hsp90, leading to activate both kinase and non-kinase client proteins of HSP90AA1/Hsp90. Acts as a scaffold to load client protein FLCN onto HSP90AA1/Hsp90. Competes with the activating co-chaperone AHSA1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins. May play a role in the signal transduction pathway of apoptosis induced by O6-methylguanine-mispaired lesions.

Subunit / interactions. Homodimer and homomultimer. Heterodimer and heteromultimer with FNIP1. Interacts (via C-terminus) with FLCN (via C-terminus). Phosphorylated FLCN is preferentially bound. Component of the lysosomal folliculin complex (LFC), composed of FLCN, FNIP1 (or FNIP2), RagA/RRAGA or RagB/RRAGB GDP-bound, RagC/RRAGC or RagD/RRAGD GTP-bound, and Ragulator. Interacts with PRKAA1, PRKAB1 and PRKAG1 subunits of 5’-AMP-activated protein kinase. Interacts with HSP70, HSP90AA1, STIP1, PTGES3, CDC37, BRAF, GCR and CDK4.

Subcellular location. Lysosome membrane. Cytoplasm.

Tissue specificity. Widely expressed with highest levels in muscle, nasal mucosa, salivary gland, uvula, fat, liver, heart, placenta and pancreas. Moderately expressed in the lung, small intestine, kidney and brain. Lower levels detected in renal cell carcinoma than in normal kidney tissue. Higher levels detected in oncocytoma tumors than in normal kidney. Higher levels detected in renal cell carcinoma tumors than in normal kidney tissue.

Post-translational modifications. Phosphorylated by AMPK.

Similarity. Belongs to the FNIP family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9P278-1	1	yes
Q9P278-2	2

RefSeq proteins (4): NP_001310845, NP_001332972, NP_001353772, NP_065891* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026156	FNIP_fam	Family
IPR028084	FNIP_N_dom	Domain
IPR028085	FNIP_mid_dom	Domain
IPR028086	FNIP_C_dom	Domain
IPR037545	DENN_FNIP1/2	Domain

Pfam: PF14636, PF14637, PF14638

UniProt features (61 total): strand 20, helix 14, region of interest 8, compositionally biased region 6, modified residue 4, domain 3, turn 2, chain 1, splice variant 1, sequence variant 1, mutagenesis site 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
7LT6	X-RAY DIFFRACTION	1.8
7LSW	X-RAY DIFFRACTION	3.05
6ULG	ELECTRON MICROSCOPY	3.31
8DHB	ELECTRON MICROSCOPY	3.53
6NZD	ELECTRON MICROSCOPY	3.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P278-F1	58.44	0.23

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): 216, 221, 723, 726

Mutagenesis-validated functional residues (1):

Position	Phenotype
146	abolished gtpase activation (gap) activity of flcn.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9639288	Amino acids regulate mTORC1

MSigDB gene sets: 244 (showing top): chr4q32, GOCC_VACUOLAR_MEMBRANE, GOZGIT_ESR1_TARGETS_DN, GOBP_POSITIVE_REGULATION_OF_TOR_SIGNALING, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_APOPTOTIC_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_TOR_SIGNALING, GOCC_CENTROSOME, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE, GOBP_DNA_DAMAGE_RESPONSE, GOBP_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY

GO Biological Process (5): negative regulation of transcription by RNA polymerase II (GO:0000122), intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630), positive regulation of protein-containing complex assembly (GO:0031334), positive regulation of TORC1 signaling (GO:1904263), DNA damage response (GO:0006974)

GO Molecular Function (3): ATPase inhibitor activity (GO:0042030), protein-folding chaperone binding (GO:0051087), protein binding (GO:0005515)

GO Cellular Component (7): cytoplasm (GO:0005737), lysosomal membrane (GO:0005765), cytosol (GO:0005829), centriolar satellite (GO:0034451), FNIP-folliculin RagC/D GAP (GO:1990877), lysosome (GO:0005764), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Cellular response to starvation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
DNA damage response	1
intrinsic apoptotic signaling pathway	1
regulation of protein-containing complex assembly	1
positive regulation of cellular component biogenesis	1
positive regulation of cellular component organization	1
protein-containing complex assembly	1
positive regulation of TOR signaling	1
TORC1 signaling	1
regulation of TORC1 signaling	1
cellular response to stress	1
ATP-dependent activity	1
molecular function inhibitor activity	1
protein binding	1
binding	1
intracellular anatomical structure	1
lysosome	1
lytic vacuole membrane	1
cytoplasm	1
centrosome	1
GTPase activator complex	1
lytic vacuole	1

Protein interactions and networks

STRING

572 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FNIP2	FLCN	Q8NFG4	999
FNIP2	FNIP1	Q8TF40	942
FNIP2	RRAGC	Q9HB90	801
FNIP2	SLC38A9	Q8NBW4	689
FNIP2	RPS6KB1	P23443	686
FNIP2	PRKAB1	Q9Y478	669
FNIP2	PRKAG1	P54619	656
FNIP2	NPRL3	Q12980	634
FNIP2	NPRL2	Q8WTW4	631
FNIP2	RRAGD	Q9NQL2	605
FNIP2	MTOR	P42345	602
FNIP2	EFNA5	P52803	598
FNIP2	MADD	Q8WXG6	584
FNIP2	RRAGA	Q7L523	571
FNIP2	RRAGB	Q5VZM2	570

IntAct

19 interactions, top by confidence:

A	B	Type	Score
LAMTOR4	LAMTOR5	psi-mi:“MI:0914”(association)	0.960
LAMTOR3	LAMTOR5	psi-mi:“MI:0914”(association)	0.730
FLCN	FNIP2	psi-mi:“MI:0915”(physical association)	0.630
FLCN	FNIP2	psi-mi:“MI:0403”(colocalization)	0.630
FNIP2	FLCN	psi-mi:“MI:0914”(association)	0.630
FNIP1	FNIP2	psi-mi:“MI:0915”(physical association)	0.620
FNIP1	FLCN	psi-mi:“MI:0914”(association)	0.560
VTA1	CHMP2A	psi-mi:“MI:0914”(association)	0.530
FNIP2	PRKAA1	psi-mi:“MI:0914”(association)	0.460
Flcn	FNIP2	psi-mi:“MI:0915”(physical association)	0.400
FNIP2	PRKAG1	psi-mi:“MI:0914”(association)	0.350
FNIP1	PRKAG1	psi-mi:“MI:0914”(association)	0.350
LAMTOR5	ERI3	psi-mi:“MI:0914”(association)	0.350

BioGRID (28): Flcn (Affinity Capture-Western), FLCN (Affinity Capture-Western), GABARAP (Affinity Capture-Western), FNIP2 (Affinity Capture-Western), HSP90AA1 (Affinity Capture-Western), HSPA1B (Affinity Capture-Western), STIP1 (Affinity Capture-Western), CDC37 (Affinity Capture-Western), PTGES3 (Affinity Capture-Western), FLCN (Affinity Capture-Western), NR3C1 (Affinity Capture-Western), CDK4 (Affinity Capture-Western), BRAF (Affinity Capture-Western), FNIP2 (Affinity Capture-Western), FNIP2 (Affinity Capture-Western)

ESM2 similar proteins: A0A5K7RLP0, A1YEX3, A2AGX3, A2AKB4, A7YWH3, A8MVX0, C9JSJ3, O08715, O88286, O88884, P24278, P97303, P97432, Q17RG1, Q1XFL1, Q3KNY0, Q3USH1, Q495C1, Q4V7B1, Q501R9, Q562E2, Q5SYB0, Q5VT97, Q5XIN1, Q6P2K3, Q6PCP7, Q6ZSG2, Q7TSX9, Q80SU3, Q80TL0, Q80W88, Q80XI1, Q8BLK9, Q8BSV3, Q8BW86, Q8K3E9, Q8K451, Q8N7W2, Q8NE31, Q8NFN8

Diamond homologs: Q5W4S4, Q68FD7, Q80TD3, Q8TF40, Q9P278

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
FNIP2	“down-regulates activity”	HSP90AA1	binding
FNIP2	“down-regulates activity”	HSP90AB1	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	123
Likely benign	12
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

4083 predictions. Top by Δscore:

Variant	Effect	Δscore
4:158769294:GCTCC:G	donor_gain	1.0000
4:158769303:G:GT	donor_gain	1.0000
4:158769304:A:T	donor_gain	1.0000
4:158825907:A:AG	acceptor_gain	1.0000
4:158825912:ACAGT:A	acceptor_loss	1.0000
4:158825913:CAGTT:C	acceptor_loss	1.0000
4:158825914:A:AG	acceptor_gain	1.0000
4:158825914:AGT:A	acceptor_loss	1.0000
4:158825914:AGTT:A	acceptor_gain	1.0000
4:158825914:AGTTG:A	acceptor_gain	1.0000
4:158825915:G:GT	acceptor_gain	1.0000
4:158825915:GT:G	acceptor_gain	1.0000
4:158825915:GTT:G	acceptor_gain	1.0000
4:158825915:GTTG:G	acceptor_gain	1.0000
4:158825915:GTTGG:G	acceptor_gain	1.0000
4:158826028:G:GT	donor_gain	1.0000
4:158826039:TCAG:T	donor_loss	1.0000
4:158826040:CAG:C	donor_loss	1.0000
4:158826041:AGG:A	donor_loss	1.0000
4:158826042:GG:G	donor_loss	1.0000
4:158826043:G:A	donor_loss	1.0000
4:158826044:T:G	donor_loss	1.0000
4:158826570:G:T	donor_gain	1.0000
4:158829072:A:AG	acceptor_gain	1.0000
4:158829073:A:G	acceptor_gain	1.0000
4:158829077:A:AC	acceptor_loss	1.0000
4:158829077:A:AG	acceptor_gain	1.0000
4:158829078:G:GA	acceptor_gain	1.0000
4:158829078:GA:G	acceptor_gain	1.0000
4:158829078:GAA:G	acceptor_gain	1.0000

AlphaMissense

7359 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:158861653:T:A	W448R	1.000
4:158861653:T:C	W448R	1.000
4:158832081:T:C	L166P	0.999
4:158832089:A:C	S169R	0.999
4:158832091:T:A	S169R	0.999
4:158832091:T:G	S169R	0.999
4:158859139:A:C	S314R	0.999
4:158859141:C:A	S314R	0.999
4:158859141:C:G	S314R	0.999
4:158861391:T:A	W400R	0.999
4:158861391:T:C	W400R	0.999
4:158891492:C:A	A999E	0.999
4:158895763:T:C	L1055P	0.999
4:158895775:T:C	L1059P	0.999
4:158895795:A:C	S1066R	0.999
4:158895797:T:A	S1066R	0.999
4:158895797:T:G	S1066R	0.999
4:158895805:T:C	L1069P	0.999
4:158895817:T:C	L1073P	0.999
4:158904504:C:A	A1102D	0.999
4:158825960:T:A	V51D	0.998
4:158831906:T:C	F143L	0.998
4:158831908:T:A	F143L	0.998
4:158831908:T:G	F143L	0.998
4:158831949:T:A	I157K	0.998
4:158859239:T:C	L347P	0.998
4:158861629:G:C	A440P	0.998
4:158861655:G:C	W448C	0.998
4:158861655:G:T	W448C	0.998
4:158861764:T:A	W485R	0.998

dbSNP variants (sampled 300 via entrez): RS1000003137 (4:158876169 T>G), RS1000043306 (4:158892252 C>G), RS1000054043 (4:158808765 C>T), RS1000054467 (4:158797694 G>A,T), RS1000058781 (4:158906574 CTTAAT>C), RS1000071252 (4:158883561 G>A), RS1000106548 (4:158797470 C>T), RS1000123293 (4:158883409 T>C), RS1000135747 (4:158789639 A>C), RS1000156571 (4:158844298 C>T), RS1000161366 (4:158856247 C>T), RS10001787 (4:158846271 T>G), RS1000187197 (4:158789943 A>G), RS1000190780 (4:158836880 A>G), RS1000219194 (4:158865185 C>T)

Disease associations

OMIM: gene MIM:612768 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST003496_7	Educational attainment	2.000000e-09
GCST005316_620	Intelligence (MTAG)	2.000000e-09
GCST008526_27	Coffee consumption	2.000000e-06
GCST009524_245	Household income (MTAG)	1.000000e-11
GCST90000050_32	Age at first birth	1.000000e-08

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004784	self reported educational attainment
EFO:0004337	intelligence
EFO:0006781	coffee consumption measurement
EFO:0009695	household income
EFO:0009101	age at first birth measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases expression	4
trichostatin A	affects cotreatment, increases expression	3
Benzo(a)pyrene	decreases expression, decreases methylation	3
Tretinoin	increases expression	3
Cyclosporine	decreases expression, increases expression	3
sodium arsenite	increases abundance, increases expression, affects cotreatment, decreases expression	2
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression, increases expression	2
Estradiol	increases expression	2
Formaldehyde	decreases expression, increases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
GSK-J4	increases expression	1
FR900359	increases phosphorylation	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
decabromobiphenyl ether	decreases expression	1
tetrabromobisphenol A	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
potassium chromate(VI)	decreases expression	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
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
bisphenol S	affects cotreatment, increases methylation	1
Sunitinib	increases expression	1
Arsenic Trioxide	increases expression	1
Fulvestrant	increases methylation, affects cotreatment	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Caffeine	decreases phosphorylation	1
Carbamazepine	affects expression	1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E1XH	HAP1 FNIP2 (-) 2	Cancer cell line	Male
CVCL_E1XI	HAP1 FNIP2 (-) 3	Cancer cell line	Male
CVCL_E1XJ	HAP1 FNIP2 (-) 4	Cancer cell line	Male
CVCL_XN87	HAP1 FNIP2 (-) 1	Cancer cell line	Male

Clinical trials (associated diseases)

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