NAP1L2

Summary

NAP1L2 (nucleosome assembly protein 1 like 2, HGNC:7638) is a protein-coding gene on chromosome Xq13.2, encoding Nucleosome assembly protein 1-like 2 (Q9ULW6). Histone chaperone.

The protein encoded by this intronless gene is a member of the nucleosome assembly protein (NAP) family. The encoded protein represents a class of tissue-specific factors that interact with chromatin to regulate neuronal cell proliferation.

Source: NCBI Gene 4674 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 45 total
• MANE Select transcript: NM_021963

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7638
Approved symbol	NAP1L2
Name	nucleosome assembly protein 1 like 2
Location	Xq13.2
Locus type	gene with protein product
Status	Approved
Aliases	BPX, MGC26243
Ensembl gene	ENSG00000186462
Ensembl biotype	protein_coding
OMIM	300026
Entrez	4674

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000373517, ENST00000861013

RefSeq mRNA: 1 — MANE Select: NM_021963 NM_021963

CCDS: CCDS14423

Canonical transcript exons

ENST00000373517 — 1 exons

Exon	Start	End
ENSE00001460742	73212299	73214851

Expression profiles

Bgee: expression breadth ubiquitous, 241 present calls, max score 98.34.

FANTOM5 (CAGE): breadth broad, TPM avg 7.8070 / max 1047.8138, expressed in 695 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
199603	5.5792	658
199602	1.7646	157
199600	0.2163	78
209735	0.0866	39
199601	0.0815	39
199599	0.0496	22
199598	0.0292	9

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	98.34	gold quality
cerebellar vermis	UBERON:0004720	98.19	gold quality
pons	UBERON:0000988	98.15	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.09	gold quality
orbitofrontal cortex	UBERON:0004167	97.72	gold quality
superior frontal gyrus	UBERON:0002661	97.50	gold quality
postcentral gyrus	UBERON:0002581	97.18	gold quality
parietal lobe	UBERON:0001872	97.13	gold quality
primary visual cortex	UBERON:0002436	96.95	gold quality
Brodmann (1909) area 46	UBERON:0006483	96.77	gold quality
occipital lobe	UBERON:0002021	96.73	gold quality
lateral nuclear group of thalamus	UBERON:0002736	96.31	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	96.30	gold quality
superior vestibular nucleus	UBERON:0007227	96.26	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.12	gold quality
prefrontal cortex	UBERON:0000451	96.08	gold quality
CA1 field of hippocampus	UBERON:0003881	95.49	gold quality
frontal cortex	UBERON:0001870	95.32	gold quality
entorhinal cortex	UBERON:0002728	95.12	gold quality
cerebellum	UBERON:0002037	95.08	gold quality
middle temporal gyrus	UBERON:0002771	95.05	gold quality
cerebellar cortex	UBERON:0002129	94.87	gold quality
cerebral cortex	UBERON:0000956	94.80	gold quality
cerebellar hemisphere	UBERON:0002245	94.79	gold quality
neocortex	UBERON:0001950	94.71	gold quality
anterior cingulate cortex	UBERON:0009835	94.05	gold quality
cingulate cortex	UBERON:0003027	94.03	gold quality
ventral tegmental area	UBERON:0002691	93.55	gold quality
hypothalamus	UBERON:0001898	93.48	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.45	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.80

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

89 targeting NAP1L2, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-548AR-3P	99.85	71.26	3889

Literature-anchored findings (GeneRIF, showing 38)

• Mutated c-Abl stimulated the formation of F-actin branches in neurites of rat embryonic cortical neurons. The reciprocal regulation between F-actin and the c-Abl tyrosine kinase may provide a mechanism for control of actin cytoskeleton dynamics (PMID:11864995)
• amalgam, neurotactin and the Abelson tyrosine kinase interact and affect axon pathfinding (PMID:12783792)
• In Abl’s absence, excess actin is polymerized in apical microvilli, whereas too little actin is assembled into pseudocleavage and cellularization furrows. (PMID:14676307)
• a reduction in Abl gene dosage causes distal paralysis and axonal swellings (PMID:15975902)
• Enabled (Ena), a substrate for Abl, promotes the formation of both dendritic branches and actin-rich spine-like protrusions of dendritic arborization neurons, an effect opposite to that of Abl (PMID:16003769)
• Therefore, we propose that Abl and p35/p25 cooperate in promoting Cdk5-pY15, which deregulates Cdk5 activity and subcellular localization in Abeta42-triggered neurodegeneration. (PMID:16932754)
• Abl acts apically to suppress the accumulation of both Enabled (Ena) and actin in mesodermal cells during ventral furrow formation (PMID:17202187)
• These findings suggest that the reciprocal regulation of Abi phosphorylation by Abl and PTP61F may regulate the localization and stability of Abi and may regulate the formation of lamella. (PMID:17804420)
• These data provide new insight into how regulated Abl activity helps direct normal development and into possible biological functions of Bcr-Abl. (PMID:17959833)
• Thus, Calmodulin and Abelson tyrosine kinase are key signaling molecules working synergistically to transduce both midline attractive and repulsive cues. (PMID:18243630)
• in addition to its role as a transcription factor, Eya functions as a cytoplasmic protein tyrosine phosphatase (PMID:19217428)
• Results establish that PTP61F and dAbl ensure proper actin organization through the coordinated and reversible tyrosine phosphorylation of Kette. (PMID:19398577)
• Data suggest that abi and Abl have an antagonistic interaction in Drosophila axonogenesis and synaptogenesis, which possibly occurs through the modulation of F-actin reorganization. (PMID:19675132)
• Fra activity is required to correctly regulate Abl-dependent cytoskeletal dynamics underlying commissure formation (PMID:20352105)
• Data suggest a model in which CLASP and Msps converge in an antagonistic balance in the Abl signaling pathway. (PMID:20498300)
• dAbl positively regulates the Fz/Dishevelled (Dsh) PCP pathway without affecting canonical Wnt/Wg-Fz signaling (PMID:20837657)
• The main upstream stimulus activating the c-Abl/p73 pathway and neuronal apoptosis in Niemann-Pick type C neurons is oxidative stress. (PMID:20883783)
• Dab is a bona fide component of Abl signaling in Drosophila. (PMID:20940230)
• Results reveal a prominent role for Abl in coordinating multiple aspects of photoreceptor morphogenesis. (PMID:21674685)
• During the degradation of WAVE, Hem function is opposite to that of and downstream of Abl. (PMID:21726548)
• Abl is required for photoreceptor cell fate maintenance, as Abl mutant photoreceptors lose neuronal markers during late pupal stages but do not re-enter a proliferative state or undergo apoptosis. (PMID:23175629)
• Data find that Abl interacts both physically and genetically with the Netrin receptor Frazzled, and that disrupting this interaction prevents Abl from promoting midline axon crossing. (PMID:23720041)
• Abl is an essential regulator for myocyte. (PMID:24466097)
• Abl plays a role in the organization of filamentous actin and the redistribution of the junctional protein beta-catenin at the wound margin during embryonic wound repair. (PMID:24948602)
• Abl/Ena signaling controls the subcellular architecture of the Golgi complex in Drosophila photoreceptor neurons through its regulation of the Golgi-associated actin cytoskeleton. (PMID:25103244)
• Dysregulated Dscam binds to Abl through its cytoplasmic domain to enlarge presynaptic arbors in the Drosophila fragile X syndrome model. (PMID:25988807)
• In conjunction with its receptor Neurotactin (Nrt) and the effector kinase Abelson tyrosine kinase (Abl), Ama is necessary in parallel to the cell-autonomous Dfd pathway for the correct specification of the maxillary identity of NB6-4 (PMID:27015425)
• The Abl tyrosine kinase signaling network controls cell migration, epithelial organization, axon patterning and other aspects of development. Abl suppresses the actin-regulatory factor Enabled, and we find that Abl also acts through the GEF Trio to stimulate the signaling activity of Rac GTPase. (PMID:28087633)
• Notch-Abl axonal signaling requires proteolytic cleavage events that initiate canonical Notch signaling. Some Notch protein is tyrosine phosphorylated, this form of the protein is selectively associated with Disabled and Trio, and relevant tyrosines are essential for Notch-dependent axon patterning but not for canonical Notch-dependent regulation of cell fate. (PMID:29343637)
• BMP-dependent synaptic development requires Abi-Abl-Rac signaling of BMP receptor macropinocytosis (PMID:30737382)
• Dynamic morphogenesis of a pioneer axon in Drosophila and its regulation by Abl tyrosine kinase. (PMID:31967935)
• Abl signaling directs growth of a pioneer axon in Drosophila by shaping the intrinsic fluctuations of actin. (PMID:31967946)
• Abl and Canoe/Afadin mediate mechanotransduction at tricellular junctions. (PMID:33243859)
• Htt is a repressor of Abl activity required for APP-induced axonal growth. (PMID:33465062)
• Abelson kinase’s intrinsically disordered region plays essential roles in protein function and protein stability. (PMID:33627133)
• The Abl-interactor Abi suppresses the function of the BRAG2 GEF family member Schizo. (PMID:34897417)
• Results identified several proteins interacting with NAP1L2, including the ubiquitously expressed members of the nucleosome assembly protein family, NAP1L1 and NAP1L4. (PMID:21333655)
• NAP1L2 may play an important role in the development and progression of atopic dermatitis. (PMID:26967585)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
danio_rerio	tspy	ENSDARG00000005015
danio_rerio	nap1l4a	ENSDARG00000070560
mus_musculus	Nap1l2	ENSMUSG00000082229
rattus_norvegicus	Nap1l2	ENSRNOG00000003025
drosophila_melanogaster	Set	FBGN0014879
drosophila_melanogaster	Nap1	FBGN0015268
drosophila_melanogaster	CG3708	FBGN0040345
drosophila_melanogaster	mil	FBGN0267366
caenorhabditis_elegans		WBGENE00005007
caenorhabditis_elegans		WBGENE00017075

Paralogs (19): SET (ENSG00000119335), TSPY2 (ENSG00000168757), NAP1L5 (ENSG00000177432), TSPYL6 (ENSG00000178021), TSPYL5 (ENSG00000180543), TSPYL2 (ENSG00000184205), NAP1L3 (ENSG00000186310), NAP1L1 (ENSG00000187109), TSPYL4 (ENSG00000187189), TSPYL1 (ENSG00000189241), NAP1L4 (ENSG00000205531), TSPY3 (ENSG00000228927), TSPY8 (ENSG00000229549), SETSIP (ENSG00000230667), TSPY4 (ENSG00000233803), TSPY10 (ENSG00000236424), TSPY9 (ENSG00000238074), TSPY1 (ENSG00000258992), (ENSG00000293164)

Protein

Protein identifiers

Nucleosome assembly protein 1-like 2 — Q9ULW6 (reviewed: Q9ULW6)

Alternative names: Brain-specific protein, X-linked, Histone chaperone NAP1L2

All UniProt accessions (1): Q9ULW6

UniProt curated annotations — full annotation on UniProt →

Function. Histone chaperone. Plays a role in the epigenetic regulation of gene expression during cellular differentiation, by regulating the acetylation status of histone H3 and therefore chromatin accessibility. Plays a role in the differentiation of neuronal cells. Increased activity during aging may suppress osteogenic differentiation of bone marrow mesenchymal stem cells (BMSCs) and promote their senescence; recruits SIRT1 to deacetylate histone H3 ‘Lys-14’ at the promoter of osteogenic genes.

Subunit / interactions. Interacts with SIRT1; to promote deacetylation of histone H3 ‘Lys-14’. Interacts with histones H3 and H4.

Subcellular location. Nucleus. Chromosome. Cytoplasm. Cytosol.

Similarity. Belongs to the nucleosome assembly protein (NAP) family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9ULW6-1	1	yes
Q9ULW6-2	2

RefSeq proteins (1): NP_068798* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002164	NAP	Family
IPR037231	NAP-like_sf	Homologous_superfamily

Pfam: PF00956

UniProt features (9 total): compositionally biased region 3, region of interest 2, chain 1, short sequence motif 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9ULW6-F1	68.23	0.32

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 142 (showing top): JAEGER_METASTASIS_DN, GOBP_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION, RIZ_ERYTHROID_DIFFERENTIATION_CCNE1, GOBP_NEUROGENESIS, CREBP1_Q2, MARTORIATI_MDM4_TARGETS_NEUROEPITHELIUM_DN, GOBP_STEM_CELL_DIVISION, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, GOBP_REGULATION_OF_NEURON_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, OCT1_03, GNF2_TM4SF2, E4F1_Q6, GOBP_REGULATION_OF_CELL_DIVISION

GO Biological Process (5): nucleosome assembly (GO:0006334), neuron differentiation (GO:0030182), epigenetic regulation of gene expression (GO:0040029), positive regulation of neuron differentiation (GO:0045666), regulation of stem cell division (GO:2000035)

GO Molecular Function (4): chromatin binding (GO:0003682), histone acetyltransferase regulator activity (GO:0035034), histone binding (GO:0042393), protein binding (GO:0005515)

GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
chromatin organization	1
nucleosome organization	1
protein-DNA complex assembly	1
cell differentiation	1
generation of neurons	1
chromatin remodeling	1
regulation of gene expression	1
neuron differentiation	1
positive regulation of cell differentiation	1
regulation of neuron differentiation	1
stem cell division	1
regulation of cell division	1
histone acetyltransferase activity	1
enzyme regulator activity	1
histone acetyltransferase binding	1
protein binding	1
chromosome	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1678 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NAP1L2	CDX4	O14627	865
NAP1L2	MAGEB2	O15479	437
NAP1L2	PPP1R1A	Q13522	427
NAP1L2	SIX1	Q15475	399
NAP1L2	C19orf73	Q9NVV2	394
NAP1L2	BTRC	Q9Y297	391
NAP1L2	SKP1	P34991	385
NAP1L2	CUL1	Q13616	385
NAP1L2	C2orf68	Q2NKX9	353
NAP1L2	OR13C8	Q8NGS7	348
NAP1L2	ZC3H15	Q8WU90	344
NAP1L2	TSPYL2	Q9H2G4	327
NAP1L2	SYAP1	Q96A49	326
NAP1L2	ZCCHC13	Q8WW36	325
NAP1L2	CHIC1	Q5VXU3	325

IntAct

62 interactions, top by confidence:

A	B	Type	Score
NAP1L2	NAP1L3	psi-mi:“MI:0915”(physical association)	0.670
NAP1L3	NAP1L2	psi-mi:“MI:0915”(physical association)	0.670
NAP1L5	NAP1L2	psi-mi:“MI:0915”(physical association)	0.630
NAP1L2	NAP1L5	psi-mi:“MI:0915”(physical association)	0.630
NAP1L2		psi-mi:“MI:0915”(physical association)	0.560
NAP1L2	TP53BP2	psi-mi:“MI:0915”(physical association)	0.560
NAP1L2	MED30	psi-mi:“MI:0915”(physical association)	0.560
NAP1L2	FAM81A	psi-mi:“MI:0915”(physical association)	0.560
	NAP1L2	psi-mi:“MI:0915”(physical association)	0.560
TP53BP2	NAP1L2	psi-mi:“MI:0915”(physical association)	0.560
MED30	NAP1L2	psi-mi:“MI:0915”(physical association)	0.560
KLHL2	NAP1L2	psi-mi:“MI:0915”(physical association)	0.560
PPP1R13B	NAP1L2	psi-mi:“MI:0915”(physical association)	0.560
SCNM1	NAP1L2	psi-mi:“MI:0915”(physical association)	0.560
SH3BP5	NAP1L2	psi-mi:“MI:0915”(physical association)	0.560
CCDC146	NAP1L2	psi-mi:“MI:0915”(physical association)	0.560
NAP1L1	NAP1L2	psi-mi:“MI:0915”(physical association)	0.560
CCDC185	NAP1L2	psi-mi:“MI:0915”(physical association)	0.560
FAM81A	NAP1L2	psi-mi:“MI:0915”(physical association)	0.560
DMAP1	NAP1L2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (35): NAP1L2 (Affinity Capture-MS), NAP1L2 (Affinity Capture-MS), NAP1L2 (Two-hybrid), NAP1L2 (Two-hybrid), NAP1L2 (Two-hybrid), NAP1L2 (Two-hybrid), NAP1L2 (Two-hybrid), NAP1L2 (Two-hybrid), NAP1L2 (Two-hybrid), NAP1L2 (Two-hybrid), NAP1L2 (Two-hybrid), NAP1L2 (Two-hybrid), NAP1L1 (Two-hybrid), NAP1L2 (Affinity Capture-RNA), CENPB (Affinity Capture-MS)

ESM2 similar proteins: A0A286Y9D1, A1L162, A1Z1Q3, A2VCV0, A6QQ66, A8KBE0, A8MQG7, B3NLX1, B4F6Q9, B4GT53, B4P6W7, O75496, O88513, O94880, P32447, P51860, Q02508, Q12373, Q16RY9, Q2T9W9, Q2TBJ0, Q3UYG8, Q4VA55, Q504Y3, Q5F471, Q5H9R7, Q5ZMS4, Q65Z40, Q66H73, Q6CN69, Q6DD45, Q6PAV8, Q6PG04, Q794H2, Q7Z5K2, Q8INT5, Q8LF97, Q8N4S0, Q8NI08, Q8VDY9

Diamond homologs: A2XU85, B8AEC1, O59797, O88852, P0DME0, P51860, P53997, Q01105, Q0P5N2, Q18240, Q5AAI8, Q5R5G8, Q63945, Q69JW2, Q69ZB3, Q7TQI8, Q7X7C9, Q8LC68, Q8N831, Q8VD63, Q9BE64, Q9CA59, Q9EQU5, Q9H0U9, Q9H2G4, Q9H489, Q9UJ04, Q9ULW6, A2ZX50, A6H767, B8AW64, B8B2R4, B8B4K9, B9FU45, F4JEI8, O19110, P25293, P28656, P55209, P78920

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	2
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

47 predictions. Top by Δscore:

Variant	Effect	Δscore
X:73213862:C:CT	acceptor_gain	0.4100
X:73213999:T:A	donor_gain	0.3200
X:73213863:A:C	acceptor_gain	0.3000
X:73214550:TCCAC:T	donor_gain	0.3000
X:73213782:AGGAT:A	donor_gain	0.2900
X:73213857:C:CT	acceptor_gain	0.2800
X:73213777:C:A	donor_gain	0.2600
X:73213789:T:TA	donor_gain	0.2600
X:73214549:CTCCA:C	donor_gain	0.2600
X:73214050:A:T	acceptor_gain	0.2500
X:73214543:CCAAA:C	donor_gain	0.2500
X:73214544:CAAAC:C	donor_gain	0.2500
X:73214547:ACCTC:A	donor_gain	0.2500
X:73214548:CCTCC:C	donor_gain	0.2500
X:73214553:ACAGG:A	donor_gain	0.2400
X:73214540:AGACC:A	donor_gain	0.2300
X:73213554:TGC:T	acceptor_gain	0.2200
X:73213939:A:C	donor_gain	0.2200
X:73214534:ATCGG:A	donor_gain	0.2200
X:73214535:TCGGG:T	donor_gain	0.2200
X:73214546:AACCT:A	donor_gain	0.2200
X:73214551:CCACA:C	donor_gain	0.2200
X:73214552:CACAG:C	donor_gain	0.2200
X:73214556:GGAAA:G	donor_gain	0.2200
X:73213362:A:C	acceptor_gain	0.2100
X:73214519:GTGGC:G	donor_gain	0.2100
X:73214520:TGGCT:T	donor_gain	0.2100
X:73214525:ACCAC:A	donor_gain	0.2100
X:73214532:AGATC:A	donor_gain	0.2100
X:73214533:GATCG:G	donor_gain	0.2100

AlphaMissense

3051 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:73213490:A:G	W335R	1.000
X:73213490:A:T	W335R	1.000
X:73213488:C:A	W335C	0.999
X:73213488:C:G	W335C	0.999
X:73213489:C:G	W335S	0.999
X:73213588:A:G	L302S	0.999
X:73213627:A:G	F289S	0.999
X:73213763:A:G	W244R	0.999
X:73213763:A:T	W244R	0.999
X:73214040:T:A	R151S	0.999
X:73214040:T:G	R151S	0.999
X:73213588:A:C	L302W	0.998
X:73213603:A:G	F297S	0.998
X:73213638:G:C	F285L	0.998
X:73213638:G:T	F285L	0.998
X:73213640:A:G	F285L	0.998
X:73213696:A:G	L266P	0.998
X:73213764:A:C	F243L	0.998
X:73213764:A:T	F243L	0.998
X:73213766:A:G	F243L	0.998
X:73214041:C:G	R151T	0.998
X:73214149:A:G	L115P	0.998
X:73213381:A:G	F371S	0.997
X:73213577:A:C	Y306D	0.997
X:73213581:C:A	K304N	0.997
X:73213581:C:G	K304N	0.997
X:73213621:A:G	F291S	0.997
X:73213626:A:C	F289L	0.997
X:73213626:A:T	F289L	0.997
X:73213628:A:G	F289L	0.997

dbSNP variants (sampled 300 via entrez): RS1000794539 (X:73212643 C>G,T), RS1000899772 (X:73213249 G>T), RS1001098442 (X:73212079 G>T), RS1001984002 (X:73212799 A>G,T), RS1002754105 (X:73213242 C>G,T), RS1003295634 (X:73216419 A>G,T), RS1004058473 (X:73215087 T>C), RS1004074991 (X:73216749 G>A), RS1004672844 (X:73214544 C>A,G,T), RS1004756874 (X:73214088 G>A), RS1006089483 (X:73212177 C>T), RS1006786391 (X:73214614 G>A,T), RS1006801448 (X:73214190 A>C), RS1008508153 (X:73215281 C>A), RS1008887428 (X:73216099 T>C)

Disease associations

OMIM: gene MIM:300026 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST008103_139	Bipolar disorder	3.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression	2
Valproic Acid	affects expression, increases expression	2
Cadmium Chloride	decreases expression, increases expression	2
tungsten carbide	affects cotreatment, increases expression	1
urushiol	decreases expression	1
triphenyl phosphate	affects expression	1
arsenite	increases methylation	1
ferrous chloride	decreases expression	1
pentabromodiphenyl ether	decreases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
monomethylarsonous acid	increases expression	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
jinfukang	decreases expression	1
NSC 689534	affects binding, increases expression	1
Bortezomib	increases expression	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression	1
Cisplatin	decreases expression	1
Cobalt	affects cotreatment, increases expression	1
Copper	affects binding, increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Plant Oils	increases expression	1
Silicon Dioxide	increases expression	1
Tobacco Smoke Pollution	affects expression	1
Tretinoin	decreases expression	1
Urethane	decreases expression	1
8-Bromo Cyclic Adenosine Monophosphate	decreases expression	1
Cyclosporine	increases expression	1

Clinical trials (associated diseases)

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