KCMF1

Summary

KCMF1 (potassium channel modulatory factor 1, HGNC:20589) is a protein-coding gene on chromosome 2p11.2, encoding E3 ubiquitin-protein ligase KCMF1 (Q9P0J7). E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme and then transfers it to targeted substrates, promoting their degradation by the proteasome. It is a selective cancer dependency (DepMap: 82.9% of cell lines).

Enables ubiquitin protein ligase activity. Involved in several processes, including negative regulation of HRI-mediated signaling; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein polyubiquitination. Located in cytosol. Is active in cytoplasm.

Source: NCBI Gene 56888 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 36 total
• Cancer dependency (DepMap): dependent in 82.9% of screened cell lines
• MANE Select transcript: NM_020122

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20589
Approved symbol	KCMF1
Name	potassium channel modulatory factor 1
Location	2p11.2
Locus type	gene with protein product
Status	Approved
Aliases	DEBT91, PCMF, DKFZP434L1021, ZZZ1
Ensembl gene	ENSG00000176407
Ensembl biotype	protein_coding
OMIM	614719
Entrez	56888

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 11 protein_coding

ENST00000409785, ENST00000428691, ENST00000453448, ENST00000456682, ENST00000867145, ENST00000867146, ENST00000867147, ENST00000956563, ENST00000956564, ENST00000956565, ENST00000956566

RefSeq mRNA: 1 — MANE Select: NM_020122 NM_020122

CCDS: CCDS46350

Canonical transcript exons

ENST00000409785 — 7 exons

Exon	Start	End
ENSE00001279865	85043564	85043665
ENSE00001279872	85035016	85035155
ENSE00001586536	85049366	85049648
ENSE00001924846	85053148	85059472
ENSE00003494882	84971161	84971467
ENSE00003671676	85027889	85028056
ENSE00003787640	85046104	85046278

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 99.69.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.0063 / max 312.3710, expressed in 1817 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
21197	13.6263	1797
21198	11.1119	1783
21196	2.9692	1585
202259	0.2989	112

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	99.69	gold quality
male germ cell	CL:0000015	99.29	gold quality
cervix squamous epithelium	UBERON:0006922	99.03	gold quality
esophagus squamous epithelium	UBERON:0006920	98.83	gold quality
squamous epithelium	UBERON:0006914	98.76	gold quality
parotid gland	UBERON:0001831	98.70	gold quality
epithelium of esophagus	UBERON:0001976	98.68	gold quality
tongue squamous epithelium	UBERON:0006919	98.54	gold quality
amniotic fluid	UBERON:0000173	98.46	gold quality
gingival epithelium	UBERON:0001949	98.30	gold quality
endothelial cell	CL:0000115	98.19	gold quality
gingiva	UBERON:0001828	98.15	gold quality
cartilage tissue	UBERON:0002418	97.62	gold quality
palpebral conjunctiva	UBERON:0001812	97.61	gold quality
epithelium of nasopharynx	UBERON:0001951	97.59	gold quality
mucosa of sigmoid colon	UBERON:0004993	97.36	gold quality
colonic mucosa	UBERON:0000317	97.09	gold quality
gastrocnemius	UBERON:0001388	97.07	gold quality
hair follicle	UBERON:0002073	97.05	gold quality
oral cavity	UBERON:0000167	97.04	gold quality
pharyngeal mucosa	UBERON:0000355	96.95	gold quality
visceral pleura	UBERON:0002401	96.91	gold quality
body of pancreas	UBERON:0001150	96.80	gold quality
muscle of leg	UBERON:0001383	96.79	gold quality
secondary oocyte	CL:0000655	96.78	gold quality
jejunal mucosa	UBERON:0000399	96.76	gold quality
parietal pleura	UBERON:0002400	96.73	gold quality
pleura	UBERON:0000977	96.71	gold quality
tibialis anterior	UBERON:0001385	96.70	gold quality
heart right ventricle	UBERON:0002080	96.64	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

262 targeting KCMF1, 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-3646	100.00	73.56	5283
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-3065-5P	99.97	71.56	3281

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 82.9% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 6)

• Data indicate that FIGC upregulation in response to basic fibroblast growth factor in gastric cancer might be implicated in carcinogenesis through dysregulation of growth modulator. (PMID:15581609)
• Suppression of KCMF1 by constitutive high CD99 expression levels contribute to the malignant properties of Ewing’s sarcoma by promoting growth and migration of tumor cells (PMID:16314831)
• Data indicate that expressions of miR-210 and potassium channel modulatory factor 1 (KCMF1) exhibited an inverse correlation in placentas from patients with severe preeclampsia. (PMID:24980667)
• Results showed KCMF1 C-terminus binds directly to RAD6, whereas N-terminal domains interact with UBR4 and point mutations found in X-linked intellectual disability (XLID) patients specifically lose the interaction with KCMF1 and UBR4. (PMID:25582440)
• CircHIPK3 contributes to human villous trophoblast growth, migration and invasion via modulating the pathway of miR-346/KCMF1. (PMID:35032791)
• KCMF1 regulates autophagy and ion channels’ function in renal cell carcinoma: a future therapeutic target. (PMID:36515749)

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
danio_rerio	kcmf1	ENSDARG00000067656
mus_musculus	Kcmf1	ENSMUSG00000055239
rattus_norvegicus	Kcmf1	ENSRNOG00000015097
drosophila_melanogaster	dah	FBGN0015926
drosophila_melanogaster	CG15286	FBGN0028531
drosophila_melanogaster	Kcmf1	FBGN0037655
drosophila_melanogaster	CG3526	FBGN0040355
drosophila_melanogaster	CG31642	FBGN0051642
drosophila_melanogaster	CG31835	FBGN0051835
drosophila_melanogaster	CG42585	FBGN0260953
caenorhabditis_elegans		WBGENE00022785

Protein

Protein identifiers

E3 ubiquitin-protein ligase KCMF1 — Q9P0J7 (reviewed: Q9P0J7)

Alternative names: FGF-induced in gastric cancer, Potassium channel modulatory factor, ZZ-type zinc finger-containing protein 1

All UniProt accessions (4): Q9P0J7, A0A1D5RMQ3, C9J3I2, C9JSW5

UniProt curated annotations — full annotation on UniProt →

Function. E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme and then transfers it to targeted substrates, promoting their degradation by the proteasome. Together with UBR4, component of the N-end rule pathway: ubiquitinates proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their degradation. Does not ubiquitinate proteins that are acetylated at the N-terminus. Together with UBR4, part of a protein quality control pathway that catalyzes ubiquitination and degradation of proteins that have been oxidized in response to reactive oxygen species (ROS): recognizes proteins with an Arg-CysO3(H) degron at the N-terminus, and mediates assembly of heterotypic ‘Lys-63’-/‘Lys-27’-linked branched ubiquitin chains on oxidized proteins, leading to their degradation by autophagy. Catalytic component of the SIFI complex, a multiprotein complex required to inhibit the mitochondrial stress response after a specific stress event has been resolved: ubiquitinates and degrades (1) components of the HRI-mediated signaling of the integrated stress response, such as DELE1 and EIF2AK1/HRI, as well as (2) unimported mitochondrial precursors. Within the SIFI complex, UBR4 initiates ubiquitin chain that are further elongated or branched by KCMF1.

Subunit / interactions. Component of the SIFI complex, composed of KCMF1, UBR4 and calmodulin (CALM1, CALM2 or CALM3).

Subcellular location. Cytoplasm. Late endosome. Lysosome.

Tissue specificity. Spleen, small intestine, ovary, peripheral blood, lung, kidney and pancreas. Expressed at low levels in the thymus, prostate, testis, colon, heart, brain, placenta and liver.

Induction. Up-regulated by FGF2 in gastric cancer cells.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the KCMF1 family.

RefSeq proteins (1): NP_064507* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000433	Znf_ZZ	Domain
IPR008598	Di19_Zn-bd	Domain
IPR013087	Znf_C2H2_type	Domain
IPR043145	Znf_ZZ_sf	Homologous_superfamily
IPR050774	KCMF1/Dystrophin	Family

Pfam: PF00569, PF05605

UniProt features (26 total): binding site 8, modified residue 7, zinc finger region 2, sequence conflict 2, region of interest 2, compositionally biased region 2, initiator methionine 1, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

9 structures.

PDB	Method	Resolution (Å)
9UPZ	X-RAY DIFFRACTION	1.71
9JNI	X-RAY DIFFRACTION	1.92
9HXW	ELECTRON MICROSCOPY	3.1
9QWS	ELECTRON MICROSCOPY	3.1
9QWU	ELECTRON MICROSCOPY	3.1
9NWE	ELECTRON MICROSCOPY	3.2
9D9Z	ELECTRON MICROSCOPY	3.4
9QX0	ELECTRON MICROSCOPY	3.4
9QWZ	ELECTRON MICROSCOPY	4.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P0J7-F1	71.61	0.34

Functional residue map

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

Ligand- & substrate-binding residues (8): 12; 24; 27; 33; 36; 46; 50; 9

Post-translational modifications (7): 2, 2, 169, 189, 212, 335, 336

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6798695	Neutrophil degranulation
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System

MSigDB gene sets: 189 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_SECRETORY_GRANULE, SP3_Q3, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, CAFFAREL_RESPONSE_TO_THC_UP, GOBP_CELL_CELL_SIGNALING, MYCMAX_01, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, GOBP_SYNAPTIC_SIGNALING, AACTTT_UNKNOWN, chr2p11, GOBP_PROTEIN_K63_LINKED_UBIQUITINATION, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, GOBP_PROTEIN_K48_LINKED_UBIQUITINATION

GO Biological Process (13): ubiquitin-dependent protein catabolic process (GO:0006511), response to oxidative stress (GO:0006979), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), protein K63-linked ubiquitination (GO:0070534), protein K48-linked ubiquitination (GO:0070936), synaptic signaling (GO:0099536), negative regulation of HRI-mediated signaling (GO:0141191), cytoplasmic translation (GO:0002181), translational initiation (GO:0006413), cellular response to stress (GO:0033554), protein K27-linked ubiquitination (GO:0044314), protein targeting to vacuole involved in autophagy (GO:0071211), HRI-mediated signaling (GO:0140468)

GO Molecular Function (4): zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (9): extracellular region (GO:0005576), cytoplasm (GO:0005737), lysosome (GO:0005764), late endosome (GO:0005770), cytosol (GO:0005829), plasma membrane (GO:0005886), synapse (GO:0045202), ficolin-1-rich granule lumen (GO:1904813), endosome (GO:0005768)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Innate Immune System	1
Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein polyubiquitination	3
cellular anatomical structure	3
response to stress	2
translation	2
protein ubiquitination	1
modification-dependent protein catabolic process	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
cell-cell signaling	1
synapse	1
biological regulation	1
formation of translation initiation ternary complex	1
metabolic process	1
cellular response to stimulus	1
protein targeting to vacuole	1
autophagy	1
integrated stress response signaling	1
transition metal ion binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
catalytic activity	1
cation binding	1
intracellular anatomical structure	1
lytic vacuole	1
endosome	1
cytoplasm	1
membrane	1
cell periphery	1
cell junction	1
intracellular organelle lumen	1
ficolin-1-rich granule	1
endomembrane system	1
cytoplasmic vesicle	1

Protein interactions and networks

STRING

728 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KCMF1	UBR4	Q5T4S7	864
KCMF1	THSD7A	Q9UPZ6	618
KCMF1	UBE2A	P49459	562
KCMF1	ISCU	Q9H1K1	493
KCMF1	CUL3	Q13618	426
KCMF1	UBR1	Q8IWV7	423
KCMF1	MANBAL	Q9NQG1	403
KCMF1	UBR2	Q8IWV8	377
KCMF1	ZER1	Q7Z7L7	363
KCMF1	EFNA3	P52797	362
KCMF1	HNRNPK	P61978	362
KCMF1	CHD1	O14646	360
KCMF1	ZNF574	Q6ZN55	346
KCMF1	PTPN14	Q15678	338
KCMF1	HTRA3	P83110	334

IntAct

97 interactions, top by confidence:

A	B	Type	Score
KCMF1	UBR4	psi-mi:“MI:0915”(physical association)	0.710
E7	RB1	psi-mi:“MI:0914”(association)	0.700
TMEM266	KDM1A	psi-mi:“MI:0914”(association)	0.670
VEGFD	ADAM9	psi-mi:“MI:0914”(association)	0.640
UBR4	UBE2A	psi-mi:“MI:0914”(association)	0.550
TFDP3	E2F3	psi-mi:“MI:0914”(association)	0.530
CST9	ITGA4	psi-mi:“MI:0914”(association)	0.530
KCMF1	IDH2	psi-mi:“MI:0914”(association)	0.530
STX11	EXOC5	psi-mi:“MI:0914”(association)	0.530
ELP2	DNAJA2	psi-mi:“MI:0914”(association)	0.530
EMILIN1	METTL15	psi-mi:“MI:0914”(association)	0.530
ABHD10	UBR5	psi-mi:“MI:0914”(association)	0.530
NIPSNAP3A	CLUH	psi-mi:“MI:0914”(association)	0.530
MED20	POLR2A	psi-mi:“MI:2364”(proximity)	0.480
HSPB1	KCMF1	psi-mi:“MI:0915”(physical association)	0.370
KCMF1	GAMMAHV.ORF31	psi-mi:“MI:0915”(physical association)	0.370
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
E7	AP2A1	psi-mi:“MI:0914”(association)	0.350
E7	RB1	psi-mi:“MI:0914”(association)	0.350
E7	COPE	psi-mi:“MI:0914”(association)	0.350
GOLGA2	PSMD4	psi-mi:“MI:0914”(association)	0.350
HSPA8	PPP6C	psi-mi:“MI:0914”(association)	0.350
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (236): KCMF1 (Affinity Capture-MS), KCMF1 (Affinity Capture-MS), UBR4 (Affinity Capture-MS), ABHD10 (Affinity Capture-MS), SARS2 (Affinity Capture-MS), IDH2 (Affinity Capture-MS), CEP85 (Affinity Capture-MS), NIPSNAP3A (Affinity Capture-MS), MRS2 (Affinity Capture-MS), KCMF1 (Affinity Capture-MS), KCMF1 (Affinity Capture-MS), KCMF1 (Affinity Capture-MS), KCMF1 (Affinity Capture-MS), KCMF1 (Affinity Capture-MS), KCMF1 (Affinity Capture-MS)

ESM2 similar proteins: O14545, O94864, P53349, P78314, P97432, Q06649, Q14596, Q17R98, Q1LZE1, Q3UDK1, Q3UFT3, Q3ZC82, Q4R6F6, Q4R970, Q4V7B1, Q501R9, Q505G8, Q58D05, Q5E9J6, Q5F3F2, Q5F3Z9, Q5NVC7, Q5RC94, Q5SUE8, Q5VT97, Q6AI12, Q6AY70, Q6AYH3, Q6P2K3, Q6PJT7, Q80UY2, Q80XA6, Q810L3, Q861R7, Q86YI8, Q8BSV3, Q8K2W6, Q8N7W2, Q8ND24, Q8NFH8

Diamond homologs: A2A5Z6, A6NED2, A9JRZ0, D3ZBM7, D3ZEF4, D3ZGQ5, E1C656, F1N6G5, F2Z461, F8W2M1, O43149, O74881, O75592, O95199, O95714, P0C5Y8, P14199, P18754, P23800, P34664, Q14999, Q15034, Q1LZE1, Q24629, Q28BK1, Q2TAS2, Q3MHW0, Q3U0D9, Q3U487, Q4R828, Q4U2R1, Q52KW8, Q54VW7, Q5BIW4, Q5GLZ8, Q5PQN1, Q5RCJ3, Q5RCZ7, Q5SSH7, Q5T447

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	KCMF1	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 134 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
Signaling by VEGF	5	13.4×	1e-02
VEGFA-VEGFR2 Pathway	6	10.2×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	24
Likely benign	0
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1992 predictions. Top by Δscore:

Variant	Effect	Δscore
2:85027884:TATA:T	acceptor_loss	1.0000
2:85027887:A:AG	acceptor_gain	1.0000
2:85027887:AGG:A	acceptor_loss	1.0000
2:85027888:G:GC	acceptor_loss	1.0000
2:85027888:G:GG	acceptor_gain	1.0000
2:85027888:GGT:G	acceptor_gain	1.0000
2:85028057:G:GG	donor_gain	1.0000
2:85028057:GT:G	donor_loss	1.0000
2:85028058:T:G	donor_loss	1.0000
2:85031224:A:T	donor_gain	1.0000
2:85035010:TTTCA:T	acceptor_loss	1.0000
2:85035011:TTCA:T	acceptor_loss	1.0000
2:85035013:CAGAT:C	acceptor_loss	1.0000
2:85035014:A:AG	acceptor_gain	1.0000
2:85035014:A:T	acceptor_loss	1.0000
2:85035015:G:GA	acceptor_gain	1.0000
2:85035015:GAT:G	acceptor_gain	1.0000
2:85035015:GATTT:G	acceptor_gain	1.0000
2:85035151:AAGTG:A	donor_gain	1.0000
2:85035152:AGTG:A	donor_gain	1.0000
2:85035153:GTG:G	donor_gain	1.0000
2:85035153:GTGG:G	donor_gain	1.0000
2:85035154:TG:T	donor_gain	1.0000
2:85035154:TGGT:T	donor_gain	1.0000
2:85035155:GG:G	donor_gain	1.0000
2:85035156:G:GA	donor_loss	1.0000
2:85035156:G:GG	donor_gain	1.0000
2:85035157:T:TC	donor_loss	1.0000
2:85046096:T:TA	acceptor_gain	1.0000
2:85053145:C:G	acceptor_gain	1.0000

AlphaMissense

2482 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:84971467:G:C	G6R	1.000
2:84971467:G:T	G6C	1.000
2:85027892:T:A	V7D	1.000
2:85027894:A:C	S8R	1.000
2:85027896:C:A	S8R	1.000
2:85027896:C:G	S8R	1.000
2:85027897:T:A	C9S	1.000
2:85027897:T:C	C9R	1.000
2:85027898:G:A	C9Y	1.000
2:85027898:G:C	C9S	1.000
2:85027898:G:T	C9F	1.000
2:85027899:T:G	C9W	1.000
2:85027900:G:C	D10H	1.000
2:85027900:G:T	D10Y	1.000
2:85027901:A:C	D10A	1.000
2:85027901:A:G	D10G	1.000
2:85027901:A:T	D10V	1.000
2:85027902:T:A	D10E	1.000
2:85027902:T:G	D10E	1.000
2:85027906:T:A	C12S	1.000
2:85027906:T:C	C12R	1.000
2:85027907:G:A	C12Y	1.000
2:85027907:G:C	C12S	1.000
2:85027907:G:T	C12F	1.000
2:85027908:T:G	C12W	1.000
2:85027921:T:C	F17L	1.000
2:85027922:T:C	F17S	1.000
2:85027922:T:G	F17C	1.000
2:85027923:T:A	F17L	1.000
2:85027923:T:G	F17L	1.000

dbSNP variants (sampled 300 via entrez): RS1000039784 (2:85002290 C>T), RS1000041196 (2:85000034 A>G), RS1000170923 (2:84985843 C>G,T), RS1000228379 (2:85042146 C>A), RS1000243193 (2:84976667 A>G), RS1000283718 (2:85048367 T>A,C), RS1000288602 (2:84980609 C>T), RS1000294462 (2:84982469 TC>T), RS1000320593 (2:84970852 C>T), RS1000328607 (2:85019655 T>C,G), RS1000368683 (2:85056188 A>G), RS1000382869 (2:84970758 G>A), RS1000390236 (2:85007252 T>C), RS1000410649 (2:85017981 A>G), RS1000432949 (2:84974533 G>A)

Disease associations

OMIM: gene MIM:614719 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
trichostatin A	affects cotreatment, decreases expression, affects expression	4
bisphenol A	affects expression, decreases expression, increases expression	3
Valproic Acid	affects expression, decreases expression, decreases methylation	3
cobaltous chloride	increases expression	2
GSK-J4	increases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
decabromobiphenyl ether	decreases expression	1
arsenite	affects binding, increases reaction	1
sodium arsenite	increases expression	1
tetrabromobisphenol A	decreases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
bisphenol AF	increases expression	1
Bortezomib	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Leflunomide	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Caffeine	decreases phosphorylation	1
Carbamazepine	affects expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Demecolcine	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Ethyl Methanesulfonate	decreases expression	1
Formaldehyde	decreases expression	1

Clinical trials (associated diseases)

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