SLF2

Summary

SLF2 (SMC5/6 complex localization factor 2, HGNC:17814) is a protein-coding gene on chromosome 10q24.31, encoding SMC5-SMC6 complex localization factor protein 2 (Q8IX21). Plays a role in the DNA damage response (DDR) pathway by regulating postreplication repair of UV-damaged DNA and genomic stability maintenance.

Enables ubiquitin protein ligase binding activity. Involved in several processes, including positive regulation of cellular component organization; positive regulation of double-strand break repair; and protein localization to site of double-strand break. Located in PML body; chromatin; and site of double-strand break. Implicated in mosaic variegated aneuploidy syndrome.

Source: NCBI Gene 55719 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Atelis syndrome 1 (Strong, GenCC)
• GWAS associations: 9
• Clinical variants (ClinVar): 194 total — 5 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 34
• MANE Select transcript: NM_018121

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17814
Approved symbol	SLF2
Name	SMC5/6 complex localization factor 2
Location	10q24.31
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10512, FLJ25012, hNSE6
Ensembl gene	ENSG00000119906
Ensembl biotype	protein_coding
OMIM	610348
Entrez	55719

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 11 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000238961, ENST00000370269, ENST00000370271, ENST00000481654, ENST00000609386, ENST00000649226, ENST00000855461, ENST00000855462, ENST00000855463, ENST00000855464, ENST00000855465, ENST00000931249, ENST00000931250

RefSeq mRNA: 3 — MANE Select: NM_018121 NM_001136123, NM_001243770, NM_018121

CCDS: CCDS44470, CCDS65918, CCDS7500

Canonical transcript exons

ENST00000238961 — 20 exons

Exon	Start	End
ENSE00000613682	100929830	100929997
ENSE00000721356	100930976	100931078
ENSE00000721367	100937402	100937477
ENSE00000721370	100938595	100938736
ENSE00000721383	100944026	100944128
ENSE00000721386	100945330	100945506
ENSE00000721389	100947039	100947136
ENSE00000721392	100947760	100947847
ENSE00000721393	100950076	100950207
ENSE00000721394	100950676	100950753
ENSE00000721396	100956451	100956537
ENSE00000721397	100959428	100959496
ENSE00001284348	100929317	100929439
ENSE00001284355	100925949	100926019
ENSE00001284362	100923975	100924972
ENSE00001284400	100961877	100965134
ENSE00001284406	100912963	100913250
ENSE00001712916	100916570	100917300
ENSE00001716068	100918384	100918441
ENSE00001778635	100915999	100916042

Expression profiles

Bgee: expression breadth ubiquitous, 284 present calls, max score 94.24.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.1609 / max 278.3680, expressed in 1811 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
106616	29.1609	1811

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	94.24	gold quality
corpus callosum	UBERON:0002336	93.81	gold quality
calcaneal tendon	UBERON:0003701	91.55	gold quality
tendon	UBERON:0000043	91.12	gold quality
inferior vagus X ganglion	UBERON:0005363	90.73	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.53	gold quality
left ovary	UBERON:0002119	90.13	gold quality
right ovary	UBERON:0002118	89.93	gold quality
endometrium	UBERON:0001295	89.85	gold quality
sural nerve	UBERON:0015488	89.68	gold quality
ovary	UBERON:0000992	89.53	gold quality
corpus epididymis	UBERON:0004359	89.49	gold quality
right testis	UBERON:0004534	89.49	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	89.34	gold quality
testis	UBERON:0000473	89.09	gold quality
left testis	UBERON:0004533	88.83	gold quality
medial globus pallidus	UBERON:0002477	88.81	gold quality
left uterine tube	UBERON:0001303	88.76	gold quality
pituitary gland	UBERON:0000007	88.69	gold quality
caput epididymis	UBERON:0004358	88.68	gold quality
spinal cord	UBERON:0002240	88.56	gold quality
globus pallidus	UBERON:0001875	88.24	gold quality
tendon of biceps brachii	UBERON:0008188	88.08	gold quality
adenohypophysis	UBERON:0002196	88.04	gold quality
body of uterus	UBERON:0009853	87.96	gold quality
ventricular zone	UBERON:0003053	87.57	gold quality
subthalamic nucleus	UBERON:0001906	87.55	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.42	gold quality
spleen	UBERON:0002106	87.29	gold quality
right adrenal gland cortex	UBERON:0035827	87.15	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.42

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 3)

• ATRX proximal protein associations boast roles beyond histone deposition. (PMID:34780483)
• Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy. (PMID:36333305)
• Actionable loss of SLF2 drives B-cell lymphomagenesis and impairs the DNA damage response. (PMID:37485814)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	slf2	ENSDARG00000003328
mus_musculus	Slf2	ENSMUSG00000036097
rattus_norvegicus	Slf2	ENSRNOG00000014482

Paralogs (1): FAM178B (ENSG00000168754)

Protein

Protein identifiers

SMC5-SMC6 complex localization factor protein 2 — Q8IX21 (reviewed: Q8IX21)

Alternative names: Smc5/6 localization factor 1

All UniProt accessions (3): Q8IX21, A0A3B3IRS8, B1AL16

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the DNA damage response (DDR) pathway by regulating postreplication repair of UV-damaged DNA and genomic stability maintenance. The SLF1-SLF2 complex acts to link RAD18 with the SMC5-SMC6 complex at replication-coupled interstrand cross-links (ICL) and DNA double-strand breaks (DSBs) sites on chromatin during DNA repair in response to stalled replication forks. Promotes the recruitment of the SMC5-SMC6 complex to DNA lesions. Plays a role in SMC5-SMC6 complex recruitment for viral restriction. Forms a complex with SIMC1 and this complex is required to recruit SMC5-SMC6 complex to PML nuclear bodies and sites of viral replication.

Subunit / interactions. Forms a heterodimer with SIMC1. Interacts with SLF1 (via N-terminus); this interaction links RAD18 to the SMC5-SMC6 complex. Interacts with RAD18; this interaction is increased in a SLF1-dependent manner. Interacts with SMC5 and SMC6.

Subcellular location. Nucleus. PML body.

Tissue specificity. Widely expressed. Expressed at higher level in skeletal muscle and at slightly lower level in brain, liver and heart, than in lung, kidney, spleen and thymus.

Disease relevance. Atelis syndrome 1 (ATELS1) [MIM:620184] A form of Atelis syndrome, an autosomal recessive neurodevelopmental disorder characterized by mild to severe developmental delay, learning difficulties, microcephaly, and growth restriction with short stature. Additional features include anemia, skin hyperpigmentation, ocular anomalies, congenital heart defects, and mild skeletal abnormalities. Death in childhood may occur. Patient cells show spontaneous chromosome breakage and chromosomal anomalies, hallmarked by segmented and dicentric chromosomes and mosaic variegated hyperploidy. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. Localized in the locus associated with inherited infantile onset spinocerebellar ataxia (IOSCA). No mutation were found associated with IOSCA compared to control subjects. The expression level in the brain was not different between the 2 populations.

Similarity. Belongs to the FAM178 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8IX21-1	1	yes
Q8IX21-2	2
Q8IX21-3	3

RefSeq proteins (3): NP_001129595, NP_001230699, NP_060591* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026161	FAM178	Family
IPR044276	CANIN_dom	Domain

Pfam: PF14816

UniProt features (64 total): helix 20, compositionally biased region 13, region of interest 9, sequence variant 5, modified residue 4, turn 4, splice variant 3, strand 3, chain 1, short sequence motif 1, mutagenesis site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
7T5P	ELECTRON MICROSCOPY	3.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IX21-F1	55.80	0.09

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): 481, 603, 607, 614

Mutagenesis-validated functional residues (1):

Position	Phenotype
142	in apimmut; does not affect subcellular location.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 374 (showing top): GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, GOBP_CHROMOSOME_ORGANIZATION, GGTGTGT_MIR329, TGCACTT_MIR519C_MIR519B_MIR519A, GCANCTGNY_MYOD_Q6, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_TELOMERE_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, CAGCTG_AP4_Q5, GOBP_REGULATION_OF_DNA_REPAIR, GTGCCTT_MIR506, GOBP_REGULATION_OF_TELOMERE_MAINTENANCE, GOBP_PEPTIDYL_LYSINE_MODIFICATION

GO Biological Process (10): double-strand break repair via homologous recombination (GO:0000724), DNA damage response (GO:0006974), protein sumoylation (GO:0016925), positive regulation of protein-containing complex assembly (GO:0031334), regulation of telomere maintenance (GO:0032204), positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184), chromatin looping (GO:0140588), protein localization to site of double-strand break (GO:1990166), positive regulation of double-strand break repair (GO:2000781), DNA repair (GO:0006281)

GO Molecular Function (3): ubiquitin protein ligase binding (GO:0031625), protein-containing complex binding (GO:0044877), protein binding (GO:0005515)

GO Cellular Component (7): chromosome, telomeric region (GO:0000781), chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), PML body (GO:0016605), Smc5-Smc6 complex (GO:0030915), site of double-strand break (GO:0035861)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
double-strand break repair	2
binding	2
cellular anatomical structure	2
recombinational repair	1
cellular response to stress	1
peptidyl-lysine modification	1
protein modification by small protein conjugation	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
telomere maintenance	1
regulation of chromosome organization	1
regulation of DNA metabolic process	1
maintenance of mitotic sister chromatid cohesion	1
positive regulation of maintenance of sister chromatid cohesion	1
regulation of maintenance of mitotic sister chromatid cohesion	1
chromatin organization	1
protein localization to chromosome	1
positive regulation of DNA repair	1
regulation of double-strand break repair	1
DNA metabolic process	1
DNA damage response	1
ubiquitin-like protein ligase binding	1
chromosomal region	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
nuclear body	1
condensed chromosome	1
SUMO ligase complex	1
site of DNA damage	1

Protein interactions and networks

STRING

842 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLF2	SLF1	Q9BQI6	987
SLF2	RAD18	Q9NS91	803
SLF2	TWNK	Q96RR1	764
SLF2	SMC5	Q8IY18	756
SLF2	CYP17A1	P05093	582
SLF2	PAX2	Q02962	579
SLF2	NSMCE3	Q96MG7	512
SLF2	SMC6	Q96SB8	506
SLF2	POLG	P54098	492
SLF2	ZNF605	Q86T29	441
SLF2	ZSCAN29	Q8IWY8	430
SLF2	NSMCE1	Q8WV22	428
SLF2	TYMP	P19971	423
SLF2	TTC23L	Q6PF05	416
SLF2	SLX9	Q9NSI2	409

IntAct

55 interactions, top by confidence:

A	B	Type	Score
SLF2	SLF1	psi-mi:“MI:0915”(physical association)	0.780
SLF1	SLF2	psi-mi:“MI:0914”(association)	0.780
SLF2	SMC6	psi-mi:“MI:0915”(physical association)	0.750
SMC6	SLF2	psi-mi:“MI:0915”(physical association)	0.750
SLF2	SIMC1	psi-mi:“MI:0403”(colocalization)	0.750
SLF2	SIMC1	psi-mi:“MI:0915”(physical association)	0.750
SLF2	SIMC1	psi-mi:“MI:0407”(direct interaction)	0.750
SIMC1	SLF2	psi-mi:“MI:0914”(association)	0.750
SLF2	SMC5	psi-mi:“MI:0915”(physical association)	0.710
SMC5	SLF2	psi-mi:“MI:0915”(physical association)	0.710
PSMA1	SLF2	psi-mi:“MI:0915”(physical association)	0.560
TRIM14	SLF2	psi-mi:“MI:0915”(physical association)	0.560
SFMBT2	SLF2	psi-mi:“MI:0915”(physical association)	0.560
NSMCE1	PMF1	psi-mi:“MI:0914”(association)	0.530
SLF2	H2BC20P	psi-mi:“MI:0915”(physical association)	0.400
SLF2		psi-mi:“MI:0915”(physical association)	0.370
SMC6	IFT88	psi-mi:“MI:0914”(association)	0.350
SLF2	GCFC2	psi-mi:“MI:0914”(association)	0.350
RAD18	SRGAP3	psi-mi:“MI:0914”(association)	0.350
BVLF1	VWA8	psi-mi:“MI:0914”(association)	0.350

BioGRID (61): FAM178A (Affinity Capture-MS), ITGA1 (Affinity Capture-MS), GCFC2 (Affinity Capture-MS), FAM178A (Affinity Capture-MS), FAM178A (Affinity Capture-MS), RAD18 (Affinity Capture-MS), ANKRD32 (Affinity Capture-MS), FAM178A (Affinity Capture-MS), FAM178A (Proximity Label-MS), FAM178A (Affinity Capture-MS), FAM178A (Two-hybrid), PSMA1 (Two-hybrid), SFMBT2 (Two-hybrid), FAM178A (Proximity Label-MS), FAM178A (Affinity Capture-MS)

ESM2 similar proteins: A0AUZ9, A0JMF7, A1L2Y1, A3KMW7, A8MT70, A8MW92, A9JRX0, B0CM36, B0S6S9, B7ZS37, D3Z987, F1QB81, O95447, P40649, Q0IHW6, Q0P5X5, Q14B48, Q15468, Q3U285, Q3V089, Q49A88, Q4R815, Q4V9H5, Q5CZC0, Q5DTI6, Q5REF4, Q5T1N1, Q5ZJK5, Q66H35, Q6NRH7, Q6NRK3, Q6ZRS4, Q6ZU52, Q80VP2, Q80WQ8, Q8BLG0, Q8CB14, Q8CCJ9, Q8IUR6, Q8IX21

Diamond homologs: F1QB81, Q5REF4, Q6P9P0, Q8IX21, Q8IXR5, Q24JP3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 37 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
SUMOylation of DNA damage response and repair proteins	5	30.5×	1e-04

GO biological processes:

GO term	Partners	Fold	FDR
regulation of telomere maintenance	5	140.4×	2e-08
protein sumoylation	5	54.0×	2e-06
double-strand break repair via homologous recombination	6	31.2×	2e-06
DNA damage response	6	10.7×	6e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	2
Uncertain significance	149
Likely benign	19
Benign	1

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
2443709	NM_018121.4(SLF2):c.1006dup (p.Arg336fs)	Pathogenic
2443710	NM_018121.4(SLF2):c.2582A>T (p.Asn861Ile)	Pathogenic
2443711	NM_018121.4(SLF2):c.2719dup (p.Ser907fs)	Pathogenic
2443712	NM_018121.4(SLF2):c.2347_2348del (p.Asp783fs)	Pathogenic
2443713	NM_018121.4(SLF2):c.568C>T (p.Arg190Ter)	Pathogenic
4538378	NM_018121.4(SLF2):c.1966_1969dup (p.Thr657fs)	Likely pathogenic
4845892	NM_018121.4(SLF2):c.1710_1714dup (p.Pro572fs)	Likely pathogenic

SpliceAI

2900 predictions. Top by Δscore:

Variant	Effect	Δscore
10:100915993:TTTCA:T	acceptor_loss	1.0000
10:100915994:TTCAG:T	acceptor_loss	1.0000
10:100915996:CA:C	acceptor_loss	1.0000
10:100915997:A:AC	acceptor_loss	1.0000
10:100915998:G:A	acceptor_loss	1.0000
10:100916041:AG:A	donor_gain	1.0000
10:100916042:GG:G	donor_gain	1.0000
10:100916043:G:GG	donor_gain	1.0000
10:100919648:T:G	donor_gain	1.0000
10:100920028:GAA:G	donor_gain	1.0000
10:100929308:A:AG	acceptor_gain	1.0000
10:100929315:A:AG	acceptor_gain	1.0000
10:100929315:AG:A	acceptor_gain	1.0000
10:100929316:G:GG	acceptor_gain	1.0000
10:100929316:GG:G	acceptor_gain	1.0000
10:100929316:GGCTA:G	acceptor_gain	1.0000
10:100929417:G:GT	donor_gain	1.0000
10:100929440:G:GG	donor_gain	1.0000
10:100929823:GTTTC:G	acceptor_loss	1.0000
10:100929824:TTTCA:T	acceptor_loss	1.0000
10:100929825:TTCA:T	acceptor_loss	1.0000
10:100929826:TCAG:T	acceptor_loss	1.0000
10:100929828:A:AG	acceptor_gain	1.0000
10:100929828:AG:A	acceptor_gain	1.0000
10:100929828:AGG:A	acceptor_gain	1.0000
10:100929829:G:A	acceptor_loss	1.0000
10:100929829:G:GG	acceptor_gain	1.0000
10:100929829:GG:G	acceptor_gain	1.0000
10:100929829:GGG:G	acceptor_gain	1.0000
10:100929829:GGGA:G	acceptor_gain	1.0000

AlphaMissense

7719 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:100956531:A:C	R1137S	1.000
10:100956531:A:T	R1137S	1.000
10:100959461:T:A	W1151R	1.000
10:100959461:T:C	W1151R	1.000
10:100956491:T:A	V1124D	0.999
10:100956503:T:A	I1128N	0.999
10:100956503:T:G	I1128S	0.999
10:100956506:G:C	R1129T	0.999
10:100956506:G:T	R1129M	0.999
10:100956507:G:C	R1129S	0.999
10:100956507:G:T	R1129S	0.999
10:100956509:A:T	E1130V	0.999
10:100956530:G:C	R1137T	0.999
10:100956530:G:T	R1137I	0.999
10:100956533:C:T	T1138I	0.999
10:100956537:G:C	K1139N	0.999
10:100956537:G:T	K1139N	0.999
10:100959433:A:C	K1141N	0.999
10:100959433:A:T	K1141N	0.999
10:100959444:C:A	A1145D	0.999
10:100961895:T:A	W1169R	0.999
10:100961895:T:C	W1169R	0.999
10:100961897:G:C	W1169C	0.999
10:100961897:G:T	W1169C	0.999
10:100929340:T:C	L689P	0.998
10:100929846:T:C	F728L	0.998
10:100929848:T:A	F728L	0.998
10:100929848:T:G	F728L	0.998
10:100931067:T:A	W809R	0.998
10:100931067:T:C	W809R	0.998

dbSNP variants (sampled 300 via entrez): RS1000089982 (10:100948176 A>G), RS1000174253 (10:100929413 T>G), RS1000176433 (10:100911199 T>C), RS1000285167 (10:100953669 T>C), RS1000285395 (10:100922201 C>T), RS1000337335 (10:100922418 A>C), RS1000382351 (10:100955065 G>A), RS1000445462 (10:100914245 A>G,T), RS1000455502 (10:100913816 G>A,T), RS1000605639 (10:100952657 G>A), RS1000606138 (10:100920602 G>A), RS1000642584 (10:100946015 C>G), RS1000671724 (10:100920831 C>G), RS1000675374 (10:100954375 G>A), RS1000781869 (10:100912864 C>T)

Disease associations

OMIM: gene MIM:610348 | disease phenotypes: MIM:620184

GenCC curated gene-disease

Disease	Classification	Inheritance
Atelis syndrome 1	Strong	Autosomal recessive

Mondo (1): Atelis syndrome 1 (MONDO:0859575)

Orphanet (0):

HPO phenotypes

34 total (30 of 34 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000218	High palate
HP:0000276	Long face
HP:0000331	Short chin
HP:0000343	Long philtrum
HP:0000448	Prominent nose
HP:0000494	Downslanted palpebral fissures
HP:0000518	Cataract
HP:0000670	Carious teeth
HP:0000729	Autistic behavior
HP:0000821	Hypothyroidism
HP:0000957	Cafe-au-lait spot
HP:0000958	Dry skin
HP:0000964	Eczematoid dermatitis
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001276	Hypertonia
HP:0001319	Neonatal hypotonia
HP:0001629	Ventricular septal defect
HP:0001631	Atrial septal defect
HP:0001873	Thrombocytopenia
HP:0001882	Decreased total leukocyte count
HP:0001903	Anemia
HP:0002110	Bronchiectasis
HP:0002719	Recurrent infections
HP:0003593	Infantile onset
HP:0007018	Attention deficit hyperactivity disorder
HP:0007400	Irregular hyperpigmentation
HP:0008454	Lumbar kyphosis
HP:0008551	Microtia

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST004748_16	Lung cancer	6.000000e-07
GCST005830_80	Hand grip strength	8.000000e-09
GCST006921_7	Regular attendance at a pub or social club	1.000000e-08
GCST007328_34	Alcohol consumption (drinks per week)	2.000000e-10
GCST008757_14	Alcohol consumption	5.000000e-13
GCST009391_8	Metabolite levels	2.000000e-06
GCST010002_298	Refractive error	3.000000e-22
GCST90000050_48	Age at first birth	3.000000e-08
GCST90013406_264	Liver enzyme levels (alkaline phosphatase)	1.000000e-10

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0006941	grip strength measurement
EFO:0009592	social interaction measurement
EFO:0007813	cotinine measurement
EFO:0009101	age at first birth measurement
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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	5
trichostatin A	affects cotreatment, increases expression	3
methylmercuric chloride	increases expression	2
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
titanium dioxide	decreases methylation, increases expression	1
beta-lapachone	decreases expression	1
cobaltous chloride	increases expression	1
butyraldehyde	decreases expression	1
ferrous chloride	decreases expression	1
isobutyl alcohol	affects cotreatment, decreases expression, increases abundance	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Zoledronic Acid	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Ethanol	affects cotreatment, decreases expression, increases abundance	1
Caffeine	affects phosphorylation	1
Cisplatin	increases expression	1
Coumestrol	increases expression	1
Ethyl Methanesulfonate	decreases expression	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects expression, increases abundance	1
Phthalic Acids	decreases methylation	1
Plant Extracts	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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