FCHO2

Summary

FCHO2 (FCH and mu domain containing endocytic adaptor 2, HGNC:25180) is a protein-coding gene on chromosome 5q13.2, encoding F-BAR domain only protein 2 (Q0JRZ9). Functions in an early step of clathrin-mediated endocytosis. It is a selective cancer dependency (DepMap: 10.8% of cell lines).

Enables identical protein binding activity. Involved in clathrin coat assembly and clathrin-dependent endocytosis. Located in clathrin-coated pit and clathrin-coated vesicle.

Source: NCBI Gene 115548 — RefSeq curated summary.

At a glance

• GWAS associations: 27
• Clinical variants (ClinVar): 113 total
• Cancer dependency (DepMap): dependent in 10.8% of screened cell lines
• MANE Select transcript: NM_138782

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25180
Approved symbol	FCHO2
Name	FCH and mu domain containing endocytic adaptor 2
Location	5q13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000157107
Ensembl biotype	protein_coding
OMIM	613438
Entrez	115548

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 10 protein_coding, 3 retained_intron

ENST00000287761, ENST00000430046, ENST00000503302, ENST00000507345, ENST00000508431, ENST00000511264, ENST00000512348, ENST00000956649, ENST00000956650, ENST00000956651, ENST00000956652, ENST00000956653, ENST00000956654

RefSeq mRNA: 2 — MANE Select: NM_138782 NM_001146032, NM_138782

CCDS: CCDS47230, CCDS54868

Canonical transcript exons

ENST00000430046 — 26 exons

Exon	Start	End
ENSE00001030314	72990712	72990864
ENSE00001030317	72990478	72990619
ENSE00001083403	73034657	73034701
ENSE00001083407	73017212	73017308
ENSE00001083409	72989427	72989501
ENSE00001083411	73037143	73037215
ENSE00001247582	73006445	73006549
ENSE00001247612	73015626	73015724
ENSE00001373529	73087589	73087753
ENSE00001374098	73082761	73082825
ENSE00001374742	73077338	73077493
ENSE00001378691	73081783	73081982
ENSE00001390383	73078180	73078312
ENSE00001413303	72968498	72968589
ENSE00001417269	73056065	73056107
ENSE00001418022	73058433	73058524
ENSE00001432872	73041291	73041315
ENSE00001631945	72956041	72956129
ENSE00001638828	73051349	73051406
ENSE00001763379	73052332	73052507
ENSE00001798404	73054525	73054549
ENSE00002084254	73088068	73090522
ENSE00002507514	73054160	73054171
ENSE00003539033	73068650	73068779
ENSE00003577324	73063841	73063944
ENSE00003668433	73074742	73074853

Expression profiles

Bgee: expression breadth ubiquitous, 257 present calls, max score 97.35.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.1053 / max 361.6145, expressed in 1756 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
57029	10.9847	1695
57027	3.8963	1429
57026	0.5203	272
57028	0.5057	272
57025	0.1983	88

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ileal mucosa	UBERON:0000331	97.35	gold quality
calcaneal tendon	UBERON:0003701	95.16	gold quality
tibialis anterior	UBERON:0001385	95.14	gold quality
skin of hip	UBERON:0001554	94.89	gold quality
jejunal mucosa	UBERON:0000399	94.06	gold quality
upper leg skin	UBERON:0004262	93.96	gold quality
lower lobe of lung	UBERON:0008949	93.45	gold quality
oral cavity	UBERON:0000167	93.32	gold quality
pharyngeal mucosa	UBERON:0000355	93.32	gold quality
visceral pleura	UBERON:0002401	92.63	gold quality
lower esophagus mucosa	UBERON:0035834	92.34	gold quality
mucosa of sigmoid colon	UBERON:0004993	92.30	gold quality
colonic epithelium	UBERON:0000397	92.18	gold quality
esophagus squamous epithelium	UBERON:0006920	91.79	gold quality
colonic mucosa	UBERON:0000317	91.54	gold quality
seminal vesicle	UBERON:0000998	91.38	gold quality
palpebral conjunctiva	UBERON:0001812	90.79	gold quality
duodenum	UBERON:0002114	90.73	gold quality
superficial temporal artery	UBERON:0001614	90.11	gold quality
right lung	UBERON:0002167	90.05	gold quality
deltoid	UBERON:0001476	90.04	gold quality
esophagus mucosa	UBERON:0002469	90.00	gold quality
epithelial cell of pancreas	CL:0000083	89.92	gold quality
kidney epithelium	UBERON:0004819	89.82	gold quality
lung	UBERON:0002048	89.72	gold quality
tendon	UBERON:0000043	89.63	gold quality
upper arm skin	UBERON:0004263	89.37	gold quality
right uterine tube	UBERON:0001302	89.22	gold quality
pericardium	UBERON:0002407	89.20	gold quality
placenta	UBERON:0001987	89.16	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	15.25

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

178 targeting FCHO2, 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-190A-3P	100.00	80.35	5520
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
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-3148	99.97	75.06	6478
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-548J-3P	99.94	72.61	4881

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 10.8% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 9)

• This structure shows a distant relationship to curvature-sensing BAR modules, and suggests how similar coiled-coil architectures in the BAR superfamily have evolved to expand the repertoire of membrane-sculpting possibilities (PMID:17540576)
• FCHO2 regulates the size of clathrin structures, and its interaction with Dab2 is needed for LDLR endocytosis under conditions of low AP2. (PMID:22323290)
• show that the mu-homology domain of FCHO1/2 represents an endocytic interaction hub (PMID:22484487)
• The central linker of FCHO proteins acts as an allosteric regulator of the prime endocytic adaptor, AP-2. (PMID:25303365)
• Fcho1/2Eps15/RAP-2 ternary complexes to facilitate conformational activation of AP-2 by the Fcho1/2 interdomain linker to promote AP-2 cargo engagement. (PMID:27237791)
• Liquid-like protein interactions catalyse assembly of endocytic vesicles. (PMID:33820972)
• Structural organization and dynamics of FCHo2 docking on membranes. (PMID:35044298)
• circFCHO2 promotes gastric cancer progression by activating the JAK1/STAT3 pathway via sponging miR-194-5p. (PMID:35708677)
• Circular RNA circFCHO2(hsa_circ_0002490) promotes the proliferation of melanoma by directly binding to DND1. (PMID:38311675)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	fcho2	ENSDARG00000035389
mus_musculus	Fcho2	ENSMUSG00000041685
rattus_norvegicus	Fcho2	ENSRNOG00000015334

Paralogs (5): GAS7 (ENSG00000007237), SGIP1 (ENSG00000118473), FCHO1 (ENSG00000130475), PSTPIP1 (ENSG00000140368), PSTPIP2 (ENSG00000152229)

Protein

Protein identifiers

F-BAR domain only protein 2 — Q0JRZ9 (reviewed: Q0JRZ9)

All UniProt accessions (3): Q0JRZ9, H0YAE2, H7BXJ4

UniProt curated annotations — full annotation on UniProt →

Function. Functions in an early step of clathrin-mediated endocytosis. Has both a membrane binding/bending activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. Has a lipid-binding activity with a preference for membranes enriched in phosphatidylserine and phosphoinositides (Pi(4,5) biphosphate) like the plasma membrane. Its membrane-bending activity might be important for the subsequent action of clathrin and adaptors in the formation of clathrin-coated vesicles. Involved in adaptor protein complex AP-2-dependent endocytosis of the transferrin receptor, it also functions in the AP-2-independent endocytosis of the LDL receptor.

Subunit / interactions. Homodimer; disulfide-linked. May form homotetramer. Interacts with AP2A1. Interacts with EPS15, EPS15R, ITSN1 and ITSN2; recruit those scaffolding proteins which in turn may interact with the adaptor protein complex AP-2 at the plasma membrane. Interacts with DAB2 (via DPF motifs); mediates LDL receptor/LDLR endocytosis.

Subcellular location. Membrane. Clathrin-coated pit.

Post-translational modifications. Ubiquitinated. Mainly undergoes monoubiquitination but also polyubiquitination.

Miscellaneous. Deforms liposomes into a range of tubule diameters from 20 to 130 nm in vitro.

Similarity. Belongs to the FCHO family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q0JRZ9-1	1	yes
Q0JRZ9-2	2
Q0JRZ9-3	3

RefSeq proteins (2): NP_001139504, NP_620137* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001060	FCH_dom	Domain
IPR018808	Muniscin_C	Domain
IPR027267	AH/BAR_dom_sf	Homologous_superfamily
IPR028565	MHD	Domain
IPR030122	FCHo2_F-BAR	Domain
IPR031160	F_BAR_dom	Domain
IPR054713	GMIP/FCHO2-like_FCH	Domain

Pfam: PF10291, PF22699

UniProt features (45 total): modified residue 12, helix 7, sequence conflict 5, region of interest 4, splice variant 3, strand 3, domain 2, disulfide bond 2, compositionally biased region 2, chain 1, cross-link 1, sequence variant 1, mutagenesis site 1, coiled-coil region 1

Structure

Experimental structures (PDB)

7 structures.

PDB	Method	Resolution (Å)
7OIT	X-RAY DIFFRACTION	1.65
7OIQ	X-RAY DIFFRACTION	1.85
7OHZ	X-RAY DIFFRACTION	2.27
2V0O	X-RAY DIFFRACTION	2.3
7OI5	X-RAY DIFFRACTION	2.61
7OHO	X-RAY DIFFRACTION	2.88
7OG1	X-RAY DIFFRACTION	3.25

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q0JRZ9-F1	77.05	0.61

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 (13): 312, 385, 387, 394, 403, 488, 493, 496, 508, 510, 511, 533, 297

Disulfide bonds (2): 147, 273

Mutagenesis-validated functional residues (1):

Position	Phenotype
10	binds preferentially to larger liposomes.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-8856825	Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828	Clathrin-mediated endocytosis

MSigDB gene sets: 234 (showing top): TGCACTT_MIR519C_MIR519B_MIR519A, AAGCCAT_MIR135A_MIR135B, GOBP_CLATHRIN_COAT_ASSEMBLY, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_SYNAPTIC_VESICLE_RECYCLING, ATGTTAA_MIR302C, GTGCCTT_MIR506, PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP, GOCC_COATED_VESICLE, MODULE_206, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, ACTTTAT_MIR1425P, SENESE_HDAC1_TARGETS_UP

GO Biological Process (6): membrane invagination (GO:0010324), clathrin coat assembly (GO:0048268), synaptic vesicle endocytosis (GO:0048488), clathrin-dependent endocytosis (GO:0072583), protein localization to plasma membrane (GO:0072659), endocytosis (GO:0006897)

GO Molecular Function (5): phosphatidylserine binding (GO:0001786), phosphatidylinositol-4,5-bisphosphate binding (GO:0005546), phosphatidylinositol binding (GO:0035091), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (8): cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), clathrin-coated pit (GO:0005905), clathrin-coated vesicle (GO:0030136), presynapse (GO:0098793), membrane (GO:0016020), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Clathrin-mediated endocytosis	1
Membrane Trafficking	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
anion binding	2
membrane	2
membrane organization	1
protein-containing complex assembly	1
synaptic vesicle recycling	1
presynaptic endocytosis	1
receptor-mediated endocytosis	1
protein localization to membrane	1
protein localization to cell periphery	1
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
phospholipid binding	1
modified amino acid binding	1
phosphatidylinositol phosphate binding	1
phosphatidylinositol bisphosphate binding	1
protein binding	1
binding	1
intracellular anatomical structure	1
cytoplasm	1
cell periphery	1
endomembrane system	1
coated vesicle	1
synapse	1
cell junction	1

Protein interactions and networks

STRING

1378 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FCHO2	ITSN2	Q9NZM3	970
FCHO2	EPS15	P42566	967
FCHO2	ITSN1	Q15811	960
FCHO2	TRIP10	Q15642	930
FCHO2	EPN2	O95208	781
FCHO2	EPS15L1	Q9UBC2	765
FCHO2	AMPH	P49418	764
FCHO2	EPN3	Q9H201	760
FCHO2	BIN1	O00499	728
FCHO2	HIP1R	O75146	706
FCHO2	NECAP1	Q8NC96	699
FCHO2	FNBP1	Q96RU3	697
FCHO2	SNAP91	O60641	654
FCHO2	DAB2	P98082	649
FCHO2	SH3GL2	Q99962	577

IntAct

86 interactions, top by confidence:

A	B	Type	Score
SPC25	NDC80	psi-mi:“MI:0914”(association)	0.940
FCHO2	EPS15	psi-mi:“MI:0403”(colocalization)	0.700
FCHO2	EPS15	psi-mi:“MI:0915”(physical association)	0.700
AP2S1	AP2A2	psi-mi:“MI:0914”(association)	0.640
SNX9	WASL	psi-mi:“MI:0914”(association)	0.640
FCHO2	Dab2	psi-mi:“MI:0915”(physical association)	0.620
FCHO2	Dab2	psi-mi:“MI:0407”(direct interaction)	0.620
IGF1R	PIK3R2	psi-mi:“MI:2364”(proximity)	0.590
SLC25A41	NUDT19	psi-mi:“MI:0914”(association)	0.530
AP2B1	AP2A2	psi-mi:“MI:0914”(association)	0.530
EPS15	AP2A2	psi-mi:“MI:0914”(association)	0.530
EPS15L1	NDC80	psi-mi:“MI:0914”(association)	0.530
DAB2	FCHO2	psi-mi:“MI:0914”(association)	0.530
AP2A1	FCHO2	psi-mi:“MI:0915”(physical association)	0.460
FCHO2	AP2A1	psi-mi:“MI:0403”(colocalization)	0.460
MYO19	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Actb		psi-mi:“MI:0914”(association)	0.350
Flnb	RPL22	psi-mi:“MI:0914”(association)	0.350
Lima1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
LIMA1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
DBN1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
CLTB	WNK1	psi-mi:“MI:0914”(association)	0.350
GTSE1	HIP1	psi-mi:“MI:0914”(association)	0.350
PICALM	WNK1	psi-mi:“MI:0914”(association)	0.350
CLTC		psi-mi:“MI:0914”(association)	0.350
Myh9	PLEKHG3	psi-mi:“MI:0914”(association)	0.350

BioGRID (120): FCHO2 (Affinity Capture-MS), FCHO2 (Affinity Capture-MS), FCHO2 (Affinity Capture-MS), FCHO2 (Proximity Label-MS), FCHO2 (Affinity Capture-MS), FCHO2 (Affinity Capture-MS), FCHO2 (Affinity Capture-MS), FCHO2 (Affinity Capture-MS), FCHO2 (Affinity Capture-MS), FCHO2 (Affinity Capture-MS), FCHO2 (Affinity Capture-MS), FCHO2 (Affinity Capture-MS), FCHO2 (Affinity Capture-MS), FCHO2 (Affinity Capture-MS), FCHO2 (Affinity Capture-MS)

ESM2 similar proteins: A0A1D5P556, A0A3Q1LSX9, A2A5R2, A2APV2, B0DOB5, B2RQE8, D3ZYR1, D4A631, F1LVW7, F1M775, F4IUX6, G3X9K3, O08808, O46382, O60308, O60610, O75674, O95466, Q07139, Q0IHV1, Q0JRZ9, Q3UQN2, Q4S6U8, Q5MIZ7, Q5R807, Q5SP90, Q6DFT3, Q6IN85, Q6INN7, Q6NTV6, Q6NXC0, Q6P2K6, Q6ZPF4, Q7TSU1, Q7ZX60, Q801Q7, Q80U19, Q86T65, Q8BPM0, Q8IVF7

Diamond homologs: D3ZYR1, E7FBF7, O14526, P0DJJ3, Q0JRZ9, Q3UQN2, Q502I9, Q5R807, Q5RDL3, Q6IZA3, Q8K285, Q8VD37, Q9BQI5, O55148, O60861

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
FCHO2	“up-regulates quantity by stabilization”	“AP-2/clathrin vescicle”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 86 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
WNT5A-dependent internalization of FZD4	7	82.0×	6e-11
Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters	7	68.3×	2e-10
The role of Nef in HIV-1 replication and disease pathogenesis	7	68.3×	2e-10
VLDLR internalisation and degradation	6	65.9×	8e-09
Trafficking of GluR2-containing AMPA receptors	5	51.7×	7e-07
LDL clearance	6	50.2×	4e-08
EPH-ephrin mediated repulsion of cells	11	37.2×	6e-13
Plasma lipoprotein clearance	5	36.6×	4e-06

GO biological processes:

GO term	Partners	Fold	FDR
clathrin coat assembly	8	97.2×	1e-12
clathrin-dependent endocytosis	9	71.6×	1e-12
synaptic vesicle endocytosis	10	59.2×	5e-13
negative regulation of protein localization to plasma membrane	5	42.8×	1e-05
endocytosis	9	11.7×	8e-06
vesicle-mediated transport	8	10.6×	8e-05
protein autophosphorylation	5	9.9×	6e-03
intracellular protein transport	11	9.8×	2e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	82
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

4104 predictions. Top by Δscore:

Variant	Effect	Δscore
5:72956126:TTGGG:T	donor_loss	1.0000
5:72956128:GG:G	donor_gain	1.0000
5:72956128:GGGT:G	donor_loss	1.0000
5:72956129:GG:G	donor_gain	1.0000
5:72956129:GGTA:G	donor_loss	1.0000
5:72956130:G:GG	donor_gain	1.0000
5:72956130:GTAA:G	donor_loss	1.0000
5:72956131:T:A	donor_loss	1.0000
5:72968492:TTTTA:T	acceptor_loss	1.0000
5:72968493:TTTA:T	acceptor_loss	1.0000
5:72968494:TTA:T	acceptor_loss	1.0000
5:72968495:TAG:T	acceptor_loss	1.0000
5:72968496:A:C	acceptor_loss	1.0000
5:72968496:AGGG:A	acceptor_gain	1.0000
5:72968497:G:GT	acceptor_loss	1.0000
5:72968497:GGGG:G	acceptor_gain	1.0000
5:72968585:GAACG:G	donor_gain	1.0000
5:72968587:ACGGT:A	donor_loss	1.0000
5:72968588:CGG:C	donor_loss	1.0000
5:72968589:GGT:G	donor_loss	1.0000
5:72968590:G:A	donor_loss	1.0000
5:72968590:G:GG	donor_gain	1.0000
5:72968591:T:TC	donor_loss	1.0000
5:72988871:A:G	donor_gain	1.0000
5:72990474:TTA:T	acceptor_loss	1.0000
5:72990475:TA:T	acceptor_loss	1.0000
5:72990476:A:AG	acceptor_gain	1.0000
5:72990477:G:GT	acceptor_gain	1.0000
5:72990477:GA:G	acceptor_gain	1.0000
5:72990477:GAA:G	acceptor_gain	1.0000

AlphaMissense

5299 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:73074799:C:A	A546E	0.999
5:73074820:T:A	V553D	0.999
5:73074825:G:C	A555P	0.999
5:73074826:C:A	A555D	0.999
5:73077357:G:C	G571R	0.999
5:73077358:G:A	G571D	0.999
5:73078248:T:C	L639P	0.999
5:73078307:T:G	Y659D	0.999
5:73081814:T:C	L671P	0.999
5:73082786:T:A	W736R	0.999
5:73082786:T:C	W736R	0.999
5:73087606:G:C	A755P	0.999
5:73088073:T:G	Y806D	0.999
5:72968568:T:C	L35P	0.998
5:72990494:T:A	W73R	0.998
5:72990494:T:C	W73R	0.998
5:72990776:T:C	L136P	0.998
5:73074759:A:C	S533R	0.998
5:73074761:C:A	S533R	0.998
5:73074761:C:G	S533R	0.998
5:73074831:T:C	F557L	0.998
5:73074832:T:C	F557S	0.998
5:73074833:T:A	F557L	0.998
5:73074833:T:G	F557L	0.998
5:73077339:T:C	C565R	0.998
5:73077341:T:G	C565W	0.998
5:73077372:T:C	S576P	0.998
5:73077376:T:C	F577S	0.998
5:73081811:C:A	P670H	0.998
5:73081811:C:G	P670R	0.998

dbSNP variants (sampled 300 via entrez): RS1000008113 (5:72974487 TG>T), RS1000015106 (5:73074244 A>C), RS1000042595 (5:73030205 C>T), RS1000064934 (5:72982378 T>C), RS1000092244 (5:73036697 T>A,C), RS1000102961 (5:72988815 C>T), RS1000108028 (5:72979695 T>A,C), RS1000123677 (5:73081156 A>G), RS1000139275 (5:72979390 T>C), RS1000149725 (5:73023334 T>C), RS1000240396 (5:72989252 C>G), RS1000251823 (5:73061499 A>G), RS1000260540 (5:73029715 T>C,G), RS1000322245 (5:72963930 G>T), RS1000339102 (5:72992940 G>C)

Disease associations

OMIM: gene MIM:613438 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

27 associations (top):

Study	Trait	p-value
GCST003437_4	Discordance in emotional problems in monozygotic twins	7.000000e-06
GCST003437_6	Discordance in emotional problems in monozygotic twins	9.000000e-06
GCST003476_8	Eyebrow thickness	3.000000e-07
GCST003477_7	Monobrow thickness	4.000000e-07
GCST004621_85	Red cell distribution width	2.000000e-12
GCST004746_32	Small cell lung carcinoma	5.000000e-06
GCST005987_36	Albumin-globulin ratio	7.000000e-29
GCST005988_5	Serum albumin levels	1.000000e-08
GCST005990_51	Non-albumin protein levels	4.000000e-28
GCST005999_12	Aspartate aminotransferase levels	8.000000e-10
GCST006000_2	Immunoglobulin measurement (zinc sulfate turbidity test)	9.000000e-10
GCST006979_106	Heel bone mineral density	3.000000e-11
GCST007445_42	Factor VIII levels	2.000000e-10
GCST007445_8	Factor VIII levels	5.000000e-10
GCST007446_2	vWF levels	6.000000e-13
GCST007446_41	vWF levels	1.000000e-12
GCST007446_61	vWF levels	3.000000e-12
GCST007446_81	vWF levels	1.000000e-12
GCST011351_8	Aspartate aminotransferase levels	3.000000e-11
GCST011947_30	White matter hyperintensity volume	3.000000e-06
GCST011949_37	White matter hyperintensity volume (adjusted for hypertension)	1.000000e-05
GCST011950_30	White matter hyperintensity volume (adjusted for hypertension)	2.000000e-06
GCST90002391_34	Mean corpuscular hemoglobin concentration	3.000000e-13
GCST90002395_671	Mean platelet volume	8.000000e-16
GCST90002404_208	Red cell distribution width	4.000000e-19
GCST90011899_180	Aspartate aminotransferase levels	9.000000e-37
GCST90013406_232	Liver enzyme levels (alkaline phosphatase)	2.000000e-10

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0007803	emotional symptom measurement
EFO:0009188	Red cell distribution width
EFO:0005128	albumin:globulin ratio measurement
EFO:0004736	aspartate aminotransferase measurement
EFO:0009270	heel bone mineral density
EFO:0004630	factor VIII measurement
EFO:0005665	white matter hyperintensity measurement
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
Valproic Acid	decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, decreases reaction	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
coumarin	affects phosphorylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
jinfukang	decreases expression	1
Acetaminophen	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases expression	1
Caffeine	affects phosphorylation	1
Cisplatin	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Polychlorinated Biphenyls	affects expression	1
Urethane	decreases expression	1
Vanadates	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Antirheumatic Agents	decreases expression	1
Lactic Acid	decreases 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_SN37	HAP1 FCHO2 (-) 1	Cancer cell line	Male
CVCL_SN38	HAP1 FCHO2 (-) 2	Cancer cell line	Male
CVCL_SN39	HAP1 FCHO2 (-) 3	Cancer cell line	Male
CVCL_SN40	HAP1 FCHO2 (-) 4	Cancer cell line	Male

Clinical trials (associated diseases)

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