CENPX

Summary

CENPX (centromere protein X, HGNC:11422) is a protein-coding gene on chromosome 17q25.3, encoding Centromere protein X (A8MT69). DNA-binding component of the Fanconi anemia (FA) core complex. It is a selective cancer dependency (DepMap: 17.5% of cell lines).

Enables DNA binding activity. Contributes to double-stranded DNA binding activity. Involved in interstrand cross-link repair; replication fork processing; and resolution of meiotic recombination intermediates. Located in chromatin. Part of FANCM-MHF complex; Fanconi anaemia nuclear complex; and inner kinetochore.

Source: NCBI Gene 201254 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 11 total
• Cancer dependency (DepMap): dependent in 17.5% of screened cell lines
• MANE Select transcript: NM_001271006

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11422
Approved symbol	CENPX
Name	centromere protein X
Location	17q25.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC14480, FAAP10, CENP-X
Ensembl gene	ENSG00000169689
Ensembl biotype	protein_coding
OMIM	615128
Entrez	201254

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 19 protein_coding, 4 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000306704, ENST00000392359, ENST00000577379, ENST00000579520, ENST00000580090, ENST00000580435, ENST00000583767, ENST00000584347, ENST00000584514, ENST00000584600, ENST00000585091, ENST00000876426, ENST00000876427, ENST00000876428, ENST00000876429, ENST00000922917, ENST00000922918, ENST00000922919, ENST00000922920, ENST00000922921, ENST00000922922, ENST00000943304, ENST00000943305, ENST00000943306

RefSeq mRNA: 4 — MANE Select: NM_001271006 NM_001271006, NM_001271007, NM_001330536, NM_144998

CCDS: CCDS32772, CCDS59302, CCDS59303, CCDS82223

Canonical transcript exons

ENST00000392359 — 5 exons

Exon	Start	End
ENSE00001903756	82018703	82019219
ENSE00003503195	82019858	82019909
ENSE00003553332	82019293	82019381
ENSE00003588149	82019641	82019694
ENSE00003849372	82022826	82022878

Expression profiles

Bgee: expression breadth ubiquitous, 267 present calls, max score 97.47.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 35.8680 / max 226.3851, expressed in 1814 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
168888	34.8786	1813
168887	0.9894	442

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	97.47	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.52	gold quality
cerebellar hemisphere	UBERON:0002245	95.49	gold quality
cerebellar cortex	UBERON:0002129	95.47	gold quality
gingival epithelium	UBERON:0001949	95.41	silver quality
right lobe of liver	UBERON:0001114	95.16	gold quality
transverse colon	UBERON:0001157	95.14	gold quality
endometrium epithelium	UBERON:0004811	95.03	gold quality
cerebellum	UBERON:0002037	94.93	gold quality
gingiva	UBERON:0001828	94.81	silver quality
esophagus mucosa	UBERON:0002469	94.71	gold quality
body of stomach	UBERON:0001161	94.30	gold quality
esophagus	UBERON:0001043	94.04	gold quality
minor salivary gland	UBERON:0001830	94.02	gold quality
mouth mucosa	UBERON:0003729	93.92	gold quality
cingulate cortex	UBERON:0003027	93.87	gold quality
anterior cingulate cortex	UBERON:0009835	93.81	gold quality
colonic mucosa	UBERON:0000317	93.75	gold quality
large intestine	UBERON:0000059	93.66	gold quality
colon	UBERON:0001155	93.65	gold quality
prefrontal cortex	UBERON:0000451	93.61	gold quality
lower esophagus	UBERON:0013473	93.60	gold quality
lower esophagus muscularis layer	UBERON:0035833	93.60	gold quality
saliva-secreting gland	UBERON:0001044	93.57	gold quality
lower esophagus mucosa	UBERON:0035834	93.52	gold quality
right frontal lobe	UBERON:0002810	93.46	gold quality
muscle layer of sigmoid colon	UBERON:0035805	93.39	gold quality
sigmoid colon	UBERON:0001159	93.35	gold quality
amygdala	UBERON:0001876	93.28	gold quality
ganglionic eminence	UBERON:0004023	93.17	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-MTAB-10885	yes	555.59
E-MTAB-8530	yes	433.62
E-CURD-114	yes	421.35
E-GEOD-125970	yes	24.69
E-MTAB-9689	no	402.11
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): BHLHE40, BHLHE41, SP1, VHL

miRNA regulators (miRDB)

19 targeting CENPX, 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-6721-5P	99.93	68.92	2981
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-6752-5P	99.59	67.32	1243
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-8064	99.45	66.92	875
HSA-MIR-3145-5P	98.57	67.83	900
HSA-MIR-6842-3P	98.07	66.33	1325
HSA-MIR-637	97.91	64.05	1517
HSA-MIR-6747-3P	97.73	64.84	1596
HSA-MIR-3652	97.71	65.43	1890
HSA-MIR-4430	97.47	65.61	1813
HSA-MIR-6781-3P	97.44	66.85	970
HSA-MIR-2682-3P	97.10	66.16	840
HSA-MIR-4296	96.35	63.55	1233

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 17.5% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 9)

• Results identified a centromere protein S (CENP-S)-containing subcomplex that includes the new constitutive kinetochore protein CENP-X [Stra13] (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)
• CENPX assembly in living human cells, revealing a window in S phase and G2 in which de novo assembly of the complex from a soluble precursor occurs through a dynamic exchange mechanism. (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)
• Identification of human and mouse homologs of clone D9 of a murine promyelocyte cell line that was upregulated by retinoic acid. (PMID:8839844)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cenpx	ENSDARG00000089291
rattus_norvegicus	Cenpx	ENSRNOG00000090204
caenorhabditis_elegans		WBGENE00018070

Protein

Protein identifiers

Centromere protein X — A8MT69 (reviewed: A8MT69)

Alternative names: FANCM-associated histone fold protein 2, FANCM-interacting histone fold protein 2, Fanconi anemia-associated polypeptide of 10 kDa, Retinoic acid-inducible gene D9 protein homolog, Stimulated by retinoic acid gene 13 protein homolog

All UniProt accessions (4): A8MT69, J3QR01, J3QR35, J3QRS1

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 CENPS (MHF heterodimer), crucial cofactor for FANCM in both binding and ATP-dependent remodeling of DNA. Stabilizes FANCM. In complex with CENPS and FANCM (but not other FANC proteins), rapidly recruited to blocked forks and promotes gene conversion at blocked replication forks. In complex with CENPS, CENPT and CENPW (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 CENPS, 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.

Subcellular location. Nucleus. Chromosome. Centromere. Kinetochore.

Similarity. Belongs to the CENP-X/MHF2 family.

Isoforms (3)

UniProt ID	Names	Canonical?
A8MT69-1	1	yes
A8MT69-2	2, Variant A
A8MT69-3	3, Variant B

RefSeq proteins (4): NP_001257935, NP_001257936, NP_001317465, NP_659435 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018552	CENP-X	Family

Pfam: PF09415

UniProt features (11 total): helix 3, splice variant 2, sequence conflict 2, strand 2, chain 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-A8MT69-F1	94.07	0.92

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

Function

Pathways and Gene Ontology

Reactome pathways

11 pathways

ID	Pathway
R-HSA-606279	Deposition of new CENPA-containing nucleosomes at the centromere
R-HSA-6783310	Fanconi Anemia Pathway
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-1640170	Cell Cycle
R-HSA-168256	Immune System
R-HSA-73886	Chromosome Maintenance
R-HSA-73894	DNA Repair
R-HSA-774815	Nucleosome assembly
R-HSA-913531	Interferon Signaling

MSigDB gene sets: 101 (showing top): GOBP_DNA_TEMPLATED_DNA_REPLICATION_MAINTENANCE_OF_FIDELITY, GOBP_CHROMOSOME_ORGANIZATION, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_ORGANELLE_FISSION, BILD_E2F3_ONCOGENIC_SIGNATURE, GOBP_DNA_DAMAGE_RESPONSE, GOBP_ORGANELLE_ASSEMBLY, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_INTERSTRAND_CROSS_LINK_REPAIR, REACTOME_FANCONI_ANEMIA_PATHWAY, GOBP_MEIOTIC_CELL_CYCLE_PROCESS, REACTOME_DNA_REPAIR

GO Biological Process (9): resolution of meiotic recombination intermediates (GO:0000712), 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), kinetochore assembly (GO:0051382), DNA repair (GO:0006281), DNA damage response (GO:0006974)

GO Molecular Function (3): DNA binding (GO:0003677), 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-8 pathways:

Category	Pathways
Nucleosome assembly	1
DNA Repair	1
Antimicrobial mechanism of IFN-stimulated genes	1
Interferon Signaling	1
Immune System	1
Cell Cycle	1
Chromosome Maintenance	1
Cytokine Signaling in Immune system	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
nuclear protein-containing complex	2
intracellular membraneless organelle	2
reciprocal meiotic recombination	1
meiosis I cell cycle process	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
kinetochore organization	1
protein-containing complex assembly	1
membraneless organelle assembly	1
DNA metabolic process	1
DNA damage response	1
cellular response to stress	1
nucleic acid binding	1
DNA binding	1
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

771 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CENPX	CENPS	Q8N2Z9	998
CENPX	FANCM	Q8IYD8	993
CENPX	FAAP24	Q9BTP7	993
CENPX	CENPT	Q96BT3	981
CENPX	CENPW	Q5EE01	978
CENPX	FANCA	O15360	969
CENPX	FAAP100	Q0VG06	950
CENPX	CENPI	Q92674	916
CENPX	CENPC	Q03188	908
CENPX	CENPK	Q9BS16	905
CENPX	CENPH	Q9H3R5	898
CENPX	F6S8H2	F6S8H2	867
CENPX	CENPN	Q96H22	839
CENPX	CENPU	Q71F23	826
CENPX	FANCE	Q9HB96	785

IntAct

21 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
CENPX	REL	psi-mi:“MI:0915”(physical association)	0.560
TRIM54	CENPX	psi-mi:“MI:0915”(physical association)	0.560
CENPX	TRIM54	psi-mi:“MI:0915”(physical association)	0.560
Cenph	CENPX	psi-mi:“MI:0914”(association)	0.350
CENPO	CENPX	psi-mi:“MI:0914”(association)	0.350
CENPQ	CENPX	psi-mi:“MI:0914”(association)	0.350
CENPU	CENPX	psi-mi:“MI:0914”(association)	0.350
CNTROB	CENPX	psi-mi:“MI:0914”(association)	0.350
Ring1	CENPX	psi-mi:“MI:0914”(association)	0.350

BioGRID (86): STRA13 (Affinity Capture-Western), STRA13 (Reconstituted Complex), STRA13 (Affinity Capture-Western), STRA13 (Affinity Capture-Western), FANCM (Co-fractionation), BLM (Affinity Capture-Western), FANCA (Affinity Capture-Western), C17orf70 (Affinity Capture-Western), RMI1 (Affinity Capture-Western), RPA1 (Affinity Capture-Western), FANCG (Affinity Capture-Western), FANCE (Affinity Capture-Western), FANCC (Affinity Capture-Western), FANCF (Affinity Capture-Western), RPA2 (Affinity Capture-Western)

ESM2 similar proteins: A3QVV1, A8MT69, B0X2G0, B3M123, B3MJ61, B3P239, B4GDU3, B4I3S1, B4JGX4, B4KBI4, B4LZ60, B4NJR8, B4PUG5, B4QVL3, C6Y4D0, G2TRL2, O60076, O74807, O74896, O75843, O88796, P06353, P0DJH7, P36611, P78346, Q295I4, Q2KNB4, Q2KNB7, Q2KNB9, Q2NKU0, Q3E829, Q3E835, Q42525, Q54CN8, Q5E9L5, Q5RBU1, Q6NZB1, Q6P9U3, Q7QD36, Q7ZW33

Diamond homologs: A8MT69, P0DJH7, Q2NKU0, Q5RBU1, Q8C4X1, Q8L7N3, O74896

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
CENPX	up-regulates	FANCM	binding
CENPX	“form complex”	“CCAN complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1025 predictions. Top by Δscore:

Variant	Effect	Δscore
17:82019378:GCTT:G	acceptor_loss	1.0000
17:82019380:TTC:T	acceptor_loss	1.0000
17:82019381:TC:T	acceptor_loss	1.0000
17:82019382:C:CC	acceptor_gain	1.0000
17:82019382:CT:C	acceptor_loss	1.0000
17:82019540:AGGC:A	donor_gain	1.0000
17:82019568:T:TA	donor_gain	1.0000
17:82019691:CTCA:C	acceptor_gain	1.0000
17:82019695:C:CC	acceptor_gain	1.0000
17:82023860:G:GT	donor_gain	1.0000
17:82023860:GAAGG:G	donor_loss	1.0000
17:82023861:A:T	donor_gain	1.0000
17:82023861:AAG:A	donor_loss	1.0000
17:82023864:GTG:G	donor_loss	1.0000
17:82023865:T:G	donor_loss	1.0000
17:82019292:CCAG:C	donor_gain	0.9900
17:82019377:TGCTT:T	acceptor_gain	0.9900
17:82019379:CTT:C	acceptor_gain	0.9900
17:82019380:TT:T	acceptor_gain	0.9900
17:82019383:T:A	acceptor_loss	0.9900
17:82019386:G:T	acceptor_gain	0.9900
17:82019387:G:GC	acceptor_gain	0.9900
17:82019692:TCA:T	acceptor_gain	0.9900
17:82019693:CA:C	acceptor_gain	0.9900
17:82019693:CAC:C	acceptor_gain	0.9900
17:82019693:CACT:C	acceptor_loss	0.9900
17:82019694:AC:A	acceptor_loss	0.9900
17:82019695:CTGCA:C	acceptor_loss	0.9900
17:82019696:T:C	acceptor_loss	0.9900
17:82019852:CCGCA:C	donor_loss	0.9900

AlphaMissense

517 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:82019208:G:C	F81L	0.996
17:82019208:G:T	F81L	0.996
17:82019210:A:G	F81L	0.996
17:82019294:A:G	L77P	0.991
17:82019209:A:G	F81S	0.990
17:82019370:G:T	R52S	0.989
17:82019379:C:G	A49P	0.989
17:82019212:T:A	D80V	0.988
17:82019211:G:C	D80E	0.985
17:82019211:G:T	D80E	0.985
17:82019213:C:G	D80H	0.984
17:82019303:A:T	L74H	0.984
17:82019311:C:A	E71D	0.981
17:82019311:C:G	E71D	0.981
17:82019303:A:G	L74P	0.980
17:82019646:A:T	V46D	0.980
17:82019209:A:C	F81C	0.979
17:82019355:C:G	A57P	0.979
17:82019213:C:T	D80N	0.978
17:82019376:C:G	A50P	0.977
17:82019658:A:G	L42P	0.976
17:82019367:C:G	G53R	0.975
17:82019300:G:T	P75Q	0.973
17:82019218:A:G	L78P	0.972
17:82019212:T:G	D80A	0.971
17:82019673:A:G	L37P	0.971
17:82019212:T:C	D80G	0.970
17:82019215:A:G	L79P	0.970
17:82019641:C:T	E48K	0.970
17:82019682:G:T	A34E	0.969

dbSNP variants (sampled 300 via entrez): RS1000326370 (17:82020490 C>A,T), RS1000334058 (17:82023022 C>A,G,T), RS1000661885 (17:82021823 G>C), RS1000756448 (17:82018360 G>C,T), RS1001547112 (17:82023238 C>G), RS1001581258 (17:82023073 C>A,G), RS1001885566 (17:82022158 G>A), RS1001916894 (17:82021892 C>T), RS1002117727 (17:82019026 C>T), RS1002121413 (17:82023441 C>T), RS1002403914 (17:82019567 G>A,C), RS1003244228 (17:82019648 G>A,T), RS1004005302 (17:82022450 T>C), RS1004230985 (17:82019011 A>G), RS1004430483 (17:82018831 G>T)

Disease associations

OMIM: gene MIM:615128 | 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

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, affects cotreatment	2
sodium arsenite	decreases expression, increases expression	2
Valproic Acid	increases methylation, affects expression, increases expression	2
bisphenol F	affects cotreatment, decreases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
K 7174	decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	decreases expression, increases response to substance	1
bisphenol S	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Demecolcine	decreases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Diazinon	increases methylation	1
Diethylhexyl Phthalate	decreases expression	1
Fluorouracil	affects response to substance	1
Indomethacin	affects cotreatment, decreases expression	1
Oxygen	decreases expression	1
Quercetin	increases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	increases expression	1

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A6V1	SEES3-1V human STRA13, clone1	Embryonic stem cell	Male
CVCL_A6V2	SEES3-1V human STRA13, clone2	Embryonic stem cell	Male
CVCL_A6V3	SEES3-1V human STRA13, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

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