CENPS

Summary

CENPS (centromere protein S, HGNC:23163) is a protein-coding gene on chromosome 1p36.22, encoding Centromere protein S (Q8N2Z9). DNA-binding component of the Fanconi anemia (FA) core complex.

This gene was identified in the neuroblastoma tumor suppressor candidate region on chromosome 1p36. It contains a TFIID-31 domain, similar to that found in TATA box-binding protein-associated factor, TAF(II)31, which is required for p53-mediated transcription activation. This gene was expressed at very low levels in neuroblastoma tumors, and was shown to reduce cell growth in neuroblastoma cells, suggesting that it may have a role in a cell death pathway. The protein is a component of multiple complexes, including the Fanconi anemia (FA) core complex, the APITD1/CENPS complex, and the CENPA-CAD (nucleosome distal) complex. Known functions include an involvement with chromatin associations of the FA core complex, and a role in the stable assembly of the outer kinetochore. Alternative splicing of this gene results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream cortistatin (CORT) gene, as represented in GeneID:100526739. An APITD1-related pseudogene has been identified on chromosome 7.

Source: NCBI Gene 378708 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 14 total
• MANE Select transcript: NM_199294

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23163
Approved symbol	CENPS
Name	centromere protein S
Location	1p36.22
Locus type	gene with protein product
Status	Approved
Aliases	CENP-S, FAAP16
Ensembl gene	ENSG00000175279
Ensembl biotype	protein_coding
OMIM	609130
Entrez	378708

Gene structure

Transcript identifiers

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

ENST00000309048, ENST00000462462, ENST00000464507, ENST00000477755, ENST00000602486

RefSeq mRNA: 1 — MANE Select: NM_199294 NM_199294

Canonical transcript exons

ENST00000309048 — 5 exons

Exon	Start	End
ENSE00001833855	10442265	10442808
ENSE00001849117	10430433	10430568
ENSE00003599799	10440347	10440413
ENSE00003664823	10434657	10434690
ENSE00003666910	10433842	10433965

Expression profiles

Bgee: expression breadth ubiquitous, 264 present calls, max score 96.67.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.0282 / max 64.5052, expressed in 1641 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
581	5.0282	1641
580	3.4922	1193

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	96.67	gold quality
right testis	UBERON:0004534	96.60	gold quality
sperm	CL:0000019	96.22	gold quality
testis	UBERON:0000473	95.42	gold quality
male germ cell	CL:0000015	94.78	gold quality
oocyte	CL:0000023	94.11	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	93.11	gold quality
nephron tubule	UBERON:0001231	92.81	gold quality
buccal mucosa cell	CL:0002336	91.54	silver quality
right uterine tube	UBERON:0001302	91.35	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	90.71	gold quality
secondary oocyte	CL:0000655	90.34	gold quality
adenohypophysis	UBERON:0002196	89.85	gold quality
islet of Langerhans	UBERON:0000006	89.83	gold quality
pituitary gland	UBERON:0000007	89.31	gold quality
kidney epithelium	UBERON:0004819	88.72	gold quality
adult mammalian kidney	UBERON:0000082	88.46	gold quality
bronchial epithelial cell	CL:0002328	88.45	gold quality
right adrenal gland cortex	UBERON:0035827	88.43	gold quality
right adrenal gland	UBERON:0001233	87.94	gold quality
left adrenal gland	UBERON:0001234	86.76	gold quality
metanephros cortex	UBERON:0010533	86.71	gold quality
renal glomerulus	UBERON:0000074	86.62	gold quality
left adrenal gland cortex	UBERON:0035825	86.44	gold quality
cortex of kidney	UBERON:0001225	86.43	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.42	gold quality
adult organism	UBERON:0007023	86.40	gold quality
metanephric glomerulus	UBERON:0004736	86.23	gold quality
epithelium of bronchus	UBERON:0002031	86.10	gold quality
kidney	UBERON:0002113	86.10	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.20

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

19 targeting CENPS, 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-499A-5P	99.98	70.79	1323
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-548AU-3P	99.70	68.22	1373
HSA-MIR-586	99.65	70.40	2051
HSA-MIR-6758-3P	99.57	67.55	1078
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-208A-5P	99.42	70.83	1913
HSA-MIR-208B-5P	99.42	70.83	1952
HSA-MIR-4716-5P	98.82	68.57	1168
HSA-MIR-1178-3P	98.57	67.09	890
HSA-MIR-4720-3P	98.50	68.88	988
HSA-MIR-7156-3P	98.25	67.66	859
HSA-MIR-203B-3P	97.82	66.27	979
HSA-MIR-3121-5P	97.30	66.62	1146
HSA-MIR-216B-5P	97.16	66.76	1126
HSA-MIR-6822-3P	96.60	66.06	680
HSA-MIR-342-3P	96.44	67.48	1344

Literature-anchored findings (GeneRIF, showing 10)

• Mutations in APITD1 is not a common abnormality of neuroblastoma tumours. (PMID:15328517)
• These results indicate that APITD1 is not the tumor suppressor gene on 1p36 responsible for the negative prognostic effect in uveal melanoma with concurrent loss of chromosome arm 1p, region 36, and chromosome 3. (PMID:17962439)
• Results identified a centromere protein S (CENP-S)-containing subcomplex that includes the new constitutive kinetochore protein CENP-X. (PMID:19620631)
• provide biochemical evidence that MHF1 and MHF2 assemble into a heterodimer that binds DNA and enhances the DNA branch migration activity of FANCM. (PMID:20347429)
• MHF1 and MHF2 form a compact tetramer to which FANCM-F binds through a ‘dual-V’ shaped structure. (PMID:22510687)
• A long, positively charged patch exposed on the surface of the (MHF1-MHF2) complex plays a critical role in double-stranded DNA binding to chromatin. (PMID:23886707)
• It discusses current knowledge of the biological roles of CENP-S and CENP-X and how their dual existence may be a common feature of CCAN (constitutive centromere-associated network) proteins. (PMID:24256282)
• MHF prefers branched DNA over dsDNA because it engages two duplex arms. MHF engages DNA forks or various four-way junctions independent of the junction-site structure. The DNA-binding interface of MHF is important for cellular resistance to DNA damage. (PMID:24390579)
• CENP-S is not found in a soluble complex with its binding partner CENP-T but it interacts strongly and specifically with immobilized CENP-T in an in vivo binding assay. (PMID:24522885)
• The MHF complex, which is a heterotetramer that comprises two MHF1-MHF2 heterodimers, is remodeled by FANCM to favor recognition of branched DNA over dsDNA. (PMID:24699063)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
danio_rerio	cenps	ENSDARG00000070485
mus_musculus	Cenps	ENSMUSG00000073705

Paralogs (1): CORT (ENSG00000241563)

Protein

Protein identifiers

Centromere protein S — Q8N2Z9 (reviewed: Q8N2Z9)

Alternative names: Apoptosis-inducing TAF9-like domain-containing protein 1, FANCM-associated histone fold protein 1, FANCM-interacting histone fold protein 1, Fanconi anemia-associated polypeptide of 16 kDa

All UniProt accessions (3): A0A0U1RQL5, Q8N2Z9, K7ESB0

UniProt curated annotations — full annotation on UniProt →

Function. DNA-binding component of the Fanconi anemia (FA) core complex. Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage. In complex with CENPX (MHF heterodimer), crucial cofactor for FANCM in both binding and ATP-dependent remodeling of DNA. Stabilizes FANCM. In complex with CENPX and FANCM (but not other FANC proteins), rapidly recruited to blocked forks and promotes gene conversion at blocked replication forks. In complex with CENPT, CENPW and CENPX (CENP-T-W-S-X heterotetramer), involved in the formation of a functional kinetochore outer plate, which is essential for kinetochore-microtubule attachment and faithful mitotic progression. As a component of MHF and CENP-T-W-S-X complexes, binds DNA and bends it to form a nucleosome-like structure. DNA-binding function is fulfilled in the presence of CENPX, with the following preference for DNA substates: Holliday junction > double-stranded > splay arm > single-stranded. Does not bind DNA on its own.

Subunit / interactions. Heterodimer with CENPX, sometimes called MHF; this interaction stabilizes both partners. MHF heterodimers can assemble to form tetrameric structures. MHF also coassemble with CENPT-CENPW heterodimers at centromeres to form the tetrameric CENP-T-W-S-X complex. Forms a discrete complex with FANCM and CENPX, called FANCM-MHF; this interaction, probably mediated by direct binding between CENPS and FANCM, leads to synergistic activation of double-stranded DNA binding and strongly stimulates FANCM-mediated DNA remodeling. Recruited by FANCM to the Fanconi anemia (FA) core complex, which consists of CENPS, CENPX, FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL, FANCM, FAAP24 and FAAP100. The FA core complex associates with Bloom syndrome (BLM) complex, which consists of at least BLM, DNA topoisomerase 3-alpha (TOP3A), RMI1/BLAP75, RPA1/RPA70 and RPA2/RPA32. The super complex between FA and BLM is called BRAFT. Component of the CENPA-CAD complex, composed of CENPI, CENPK, CENPL, CENPO, CENPP, CENPQ, CENPR and CENPS. The CENPA-CAD complex is probably recruited on centromeres by the CENPA-NAC complex, composed of at least CENPA, CENPC, CENPH, CENPM, CENPN, CENPT and CENPU.

Subcellular location. Nucleus. Chromosome. Centromere. Kinetochore.

Tissue specificity. Ubiquitously expressed.

Similarity. Belongs to the TAF9 family. CENP-S/MHF1 subfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8N2Z9-1	1	yes
Q8N2Z9-2	2
Q8N2Z9-3	3

RefSeq proteins (1): NP_954988* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009072	Histone-fold	Homologous_superfamily
IPR029003	CENP-S/Mhf1	Family

Pfam: PF15630

UniProt features (15 total): helix 5, splice variant 3, mutagenesis site 2, chain 1, region of interest 1, strand 1, turn 1, modified residue 1

Structure

Experimental structures (PDB)

17 structures.

PDB	Method	Resolution (Å)
4NE3	X-RAY DIFFRACTION	1.8
4E45	X-RAY DIFFRACTION	2
4E44	X-RAY DIFFRACTION	2.1
4NE6	X-RAY DIFFRACTION	2.1
4DRA	X-RAY DIFFRACTION	2.41
4NE5	X-RAY DIFFRACTION	2.5
4DRB	X-RAY DIFFRACTION	2.63
28OP	ELECTRON MICROSCOPY	2.7
7R5S	ELECTRON MICROSCOPY	2.83
7XHO	ELECTRON MICROSCOPY	3.29
9TAW	ELECTRON MICROSCOPY	3.54
7XHN	ELECTRON MICROSCOPY	3.71
9TAX	ELECTRON MICROSCOPY	4.5
4NE1	X-RAY DIFFRACTION	6.5
4NDY	X-RAY DIFFRACTION	7
7YWX	ELECTRON MICROSCOPY	12
9TAY	ELECTRON MICROSCOPY	15.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N2Z9-F1	90.03	0.81

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 (1): 1

Mutagenesis-validated functional residues (2):

Position	Phenotype
73–74	no effect on cenpx- and fancm-binding; loss of double-stranded dna-binding of the mhf heterodimer and of fancm recruitme
87–88	partial loss of cenpx- and fancm-binding; partial decrease in fa core complex activity, as shown by lower levels of fanc

Function

Pathways and Gene Ontology

Reactome pathways

28 pathways

ID	Pathway
R-HSA-141444	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-2467813	Separation of Sister Chromatids
R-HSA-2500257	Resolution of Sister Chromatid Cohesion
R-HSA-5663220	RHO GTPases Activate Formins
R-HSA-606279	Deposition of new CENPA-containing nucleosomes at the centromere
R-HSA-6783310	Fanconi Anemia Pathway
R-HSA-68877	Mitotic Prometaphase
R-HSA-9648025	EML4 and NUDC in mitotic spindle formation
R-HSA-9833482	PKR-mediated signaling
R-HSA-1169410	Antimicrobial mechanism of IFN-stimulated genes
R-HSA-1280215	Cytokine Signaling in Immune system
R-HSA-141424	Amplification of signal from the kinetochores
R-HSA-162582	Signal Transduction
R-HSA-1640170	Cell Cycle
R-HSA-168256	Immune System
R-HSA-194315	Signaling by Rho GTPases
R-HSA-195258	RHO GTPase Effectors
R-HSA-2555396	Mitotic Metaphase and Anaphase
R-HSA-68882	Mitotic Anaphase
R-HSA-68886	M Phase
R-HSA-69278	Cell Cycle, Mitotic
R-HSA-69618	Mitotic Spindle Checkpoint
R-HSA-69620	Cell Cycle Checkpoints
R-HSA-73886	Chromosome Maintenance
R-HSA-73894	DNA Repair
R-HSA-774815	Nucleosome assembly
R-HSA-913531	Interferon Signaling
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 213 (showing top): PID_FANCONI_PATHWAY, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GOBP_DNA_TEMPLATED_DNA_REPLICATION_MAINTENANCE_OF_FIDELITY, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_ORGANELLE_FISSION, GOBP_DNA_DAMAGE_RESPONSE, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_INTERSTRAND_CROSS_LINK_REPAIR, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, TIEN_INTESTINE_PROBIOTICS_24HR_UP, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN, FISCHER_DREAM_TARGETS, REACTOME_FANCONI_ANEMIA_PATHWAY

GO Biological Process (8): resolution of meiotic recombination intermediates (GO:0000712), DNA repair (GO:0006281), DNA damage response (GO:0006974), chromosome segregation (GO:0007059), replication fork processing (GO:0031297), positive regulation of protein ubiquitination (GO:0031398), interstrand cross-link repair (GO:0036297), cell division (GO:0051301)

GO Molecular Function (5): DNA binding (GO:0003677), chromatin binding (GO:0003682), protein heterodimerization activity (GO:0046982), double-stranded DNA binding (GO:0003690), protein binding (GO:0005515)

GO Cellular Component (10): chromatin (GO:0000785), inner kinetochore (GO:0000939), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), Fanconi anaemia nuclear complex (GO:0043240), FANCM-MHF complex (GO:0071821), chromosome, centromeric region (GO:0000775), kinetochore (GO:0000776), chromosome (GO:0005694)

Reactome top-level categories

Rollup of top-15 pathways:

Category	Pathways
Mitotic Prometaphase	2
M Phase	2
Amplification of signal from the kinetochores	1
Mitotic Anaphase	1
RHO GTPase Effectors	1
Nucleosome assembly	1
DNA Repair	1
Antimicrobial mechanism of IFN-stimulated genes	1
Interferon Signaling	1
Immune System	1
Mitotic Spindle Checkpoint	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signaling by Rho GTPases	1
Mitotic Metaphase and Anaphase	1
Cell Cycle, Mitotic	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
binding	2
nuclear protein-containing complex	2
intracellular membraneless organelle	2
reciprocal meiotic recombination	1
meiosis I cell cycle process	1
DNA metabolic process	1
DNA damage response	1
cellular response to stress	1
cell cycle process	1
DNA-templated DNA replication maintenance of fidelity	1
protein ubiquitination	1
regulation of protein ubiquitination	1
positive regulation of protein modification by small protein conjugation or removal	1
DNA repair	1
cellular process	1
nucleic acid binding	1
protein dimerization activity	1
DNA binding	1
chromosome	1
kinetochore	1
protein-containing complex	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
chromosomal region	1
condensed chromosome, centromeric region	1
supramolecular complex	1

Protein interactions and networks

STRING

1205 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CENPS	CENPX	A8MT69	998
CENPS	FANCM	Q8IYD8	995
CENPS	FAAP24	Q9BTP7	994
CENPS	CENPW	Q5EE01	989
CENPS	CENPT	Q96BT3	989
CENPS	CENPC	Q03188	986
CENPS	CENPB	P07199	973
CENPS	FANCA	O15360	970
CENPS	FAAP100	Q0VG06	956
CENPS	CENPO	Q9BU64	951
CENPS	CENPN	Q96H22	943
CENPS	CENPK	Q9BS16	943
CENPS	CENPH	Q9H3R5	939
CENPS	CENPA	P49450	938
CENPS	CENPU	Q71F23	931

IntAct

29 interactions, top by confidence:

A	B	Type	Score
CENPS	CENPX	psi-mi:“MI:0914”(association)	0.810
CENPX	CENPS	psi-mi:“MI:0407”(direct interaction)	0.810
CENPS	CENPX	psi-mi:“MI:0915”(physical association)	0.810
CENPS	CENPX	psi-mi:“MI:0407”(direct interaction)	0.810
HOMEZ	CENPS	psi-mi:“MI:0915”(physical association)	0.560
CENPS	HOMEZ	psi-mi:“MI:0915”(physical association)	0.560
CTNNA3	CENPS	psi-mi:“MI:0915”(physical association)	0.560
CENPS	LHX4	psi-mi:“MI:0915”(physical association)	0.560
CENPS	CTNNA3	psi-mi:“MI:0915”(physical association)	0.560
	CENPS	psi-mi:“MI:0915”(physical association)	0.560
CENPS	SPRED1	psi-mi:“MI:0915”(physical association)	0.560
HTT	CENPS	psi-mi:“MI:0915”(physical association)	0.560
CENPO	CENPX	psi-mi:“MI:0914”(association)	0.350
CFAP68	LONP1	psi-mi:“MI:0914”(association)	0.350
CENPS		psi-mi:“MI:0915”(physical association)	0.000
CENPS	LHX4	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (121): STRA13 (Affinity Capture-Western), STRA13 (Reconstituted Complex), APITD1 (Affinity Capture-Western), APITD1 (Affinity Capture-Western), FANCM (Co-fractionation), BLM (Affinity Capture-MS), FANCA (Affinity Capture-MS), C17orf70 (Affinity Capture-MS), RMI1 (Affinity Capture-MS), RPA1 (Affinity Capture-MS), FANCG (Affinity Capture-MS), FANCE (Affinity Capture-MS), FANCC (Affinity Capture-MS), FANCF (Affinity Capture-MS), RPA2 (Affinity Capture-MS)

ESM2 similar proteins: A0JPP1, A1A4I4, A1A5B6, A4K436, A6QQ14, A6QQ47, C5IJB0, E1BSW7, O00459, O04173, O08908, O14908, O35465, P23726, P70268, Q12962, Q14318, Q14657, Q14919, Q16512, Q17QX2, Q1JQD7, Q32NY4, Q3B7U9, Q3MII6, Q3V1H9, Q496Y0, Q4R4E4, Q5C9Z4, Q5RE34, Q5XIU9, Q5ZIW1, Q63433, Q63788, Q6K461, Q6PZ03, Q6ZT62, Q7Z6J2, Q8CFK2, Q8HXH0

Diamond homologs: E1BSW7, Q2TBR7, Q6NRI8, Q8N2Z9, Q9D084, Q9FI55, O74807

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
CENPS	“form complex”	“CCAN complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	13
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

974 predictions. Top by Δscore:

Variant	Effect	Δscore
1:10430565:ACAGG:A	donor_loss	1.0000
1:10430566:CAGGT:C	donor_loss	1.0000
1:10430567:AGGT:A	donor_loss	1.0000
1:10430568:GGTAC:G	donor_loss	1.0000
1:10430569:G:C	donor_loss	1.0000
1:10430570:T:G	donor_loss	1.0000
1:10431306:G:GT	donor_gain	1.0000
1:10431326:T:G	donor_gain	1.0000
1:10433961:GTGTG:G	donor_gain	1.0000
1:10442263:A:AG	acceptor_gain	1.0000
1:10442264:G:GG	acceptor_gain	1.0000
1:10442264:GCTA:G	acceptor_gain	1.0000
1:10442264:GCTAA:G	acceptor_gain	1.0000
1:10442389:TGGA:T	donor_gain	1.0000
1:10442392:A:T	donor_gain	1.0000
1:10430567:AGGTA:A	donor_loss	0.9900
1:10430570:T:A	donor_loss	0.9900
1:10430575:G:GT	donor_gain	0.9900
1:10431306:G:T	donor_gain	0.9900
1:10431367:G:GT	donor_gain	0.9900
1:10433988:GCCAT:G	donor_gain	0.9900
1:10434655:A:AG	acceptor_gain	0.9900
1:10434656:G:GG	acceptor_gain	0.9900
1:10440345:A:AG	acceptor_gain	0.9900
1:10440346:G:GG	acceptor_gain	0.9900
1:10440346:GAC:G	acceptor_gain	0.9900
1:10440346:GACAT:G	acceptor_gain	0.9900
1:10442260:TATA:T	acceptor_loss	0.9900
1:10442262:TAGC:T	acceptor_loss	0.9900
1:10442264:G:A	acceptor_loss	0.9900

AlphaMissense

910 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:10434675:T:C	L65P	0.998
1:10434683:T:C	F68L	0.997
1:10434685:T:A	F68L	0.997
1:10434685:T:G	F68L	0.997
1:10440359:A:C	R74S	0.997
1:10440359:A:T	R74S	0.997
1:10440378:G:C	D81H	0.997
1:10440394:C:A	A86D	0.997
1:10434686:G:C	A69P	0.996
1:10440348:C:G	H71D	0.996
1:10440350:T:A	H71Q	0.996
1:10440350:T:G	H71Q	0.996
1:10440358:G:C	R74T	0.996
1:10440388:T:C	L84P	0.996
1:10440397:G:C	R87T	0.996
1:10440398:G:C	R87S	0.996
1:10440398:G:T	R87S	0.996
1:10434675:T:A	L65H	0.995
1:10440379:A:C	D81A	0.995
1:10433854:G:C	A22P	0.994
1:10434666:C:A	A62D	0.994
1:10440382:T:A	V82E	0.994
1:10440397:G:T	R87M	0.994
1:10433858:T:A	V23D	0.993
1:10440358:G:T	R74I	0.993
1:10440379:A:G	D81G	0.993
1:10440367:T:A	I77N	0.992
1:10440380:T:A	D81E	0.992
1:10440380:T:G	D81E	0.992
1:10434684:T:C	F68S	0.991

dbSNP variants (sampled 300 via entrez): RS1000356299 (1:10442091 G>A), RS1000780672 (1:10437962 A>G), RS1000904944 (1:10431427 C>T), RS1001668937 (1:10431301 A>G), RS1001902326 (1:10436788 A>G), RS1002070666 (1:10442763 G>C), RS1002251487 (1:10436302 G>A), RS1002280426 (1:10436842 C>G), RS1002561706 (1:10434279 C>G,T), RS1002687067 (1:10439712 G>T), RS1002919450 (1:10434004 C>T), RS1003512923 (1:10430745 G>A), RS1003693022 (1:10435669 A>G), RS1003694150 (1:10441325 T>C), RS1003914243 (1:10436257 C>A,G,T)

Disease associations

OMIM: gene MIM:609130 | 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

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Estradiol	decreases expression, increases expression	2
Valproic Acid	affects expression, increases expression	2
Cyclosporine	decreases expression	2
GSK-J4	decreases expression	1
sotorasib	affects cotreatment, increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
CPG-oligonucleotide	decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
14-deoxy-11,12-didehydroandrographolide	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
trametinib	affects cotreatment, increases expression	1
NVP-BKM120	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Troglitazone	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Aspirin	increases expression	1
Atrazine	decreases expression	1
Cisplatin	affects cotreatment, increases expression	1
Coumestrol	affects cotreatment, increases expression	1
Hydrogen Peroxide	affects expression	1
Phenobarbital	affects expression	1
Silicon Dioxide	decreases expression	1
Smoke	increases abundance, increases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Oxyquinoline	decreases expression	1
Paclitaxel	increases expression	1
Asbestos, Crocidolite	decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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