FEZ1

Summary

FEZ1 (fasciculation and elongation protein zeta 1, HGNC:3659) is a protein-coding gene on chromosome 11q24.2, encoding Fasciculation and elongation protein zeta-1 (Q99689). May be involved in axonal outgrowth as component of the network of molecules that regulate cellular morphology and axon guidance machinery.

This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Expression of this gene in C. elegans unc-76 mutants can restore to the mutants partial locomotion and axonal fasciculation, suggesting that it also functions in axonal outgrowth. The N-terminal half of the gene product is highly acidic. Alternatively spliced transcript variants encoding different isoforms of this protein have been described.

Source: NCBI Gene 9638 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 59 total
• MANE Select transcript: NM_005103

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3659
Approved symbol	FEZ1
Name	fasciculation and elongation protein zeta 1
Location	11q24.2
Locus type	gene with protein product
Status	Approved
Aliases	UNC-76
Ensembl gene	ENSG00000149557
Ensembl biotype	protein_coding
OMIM	604825
Entrez	9638

Gene structure

Transcript identifiers

Ensembl transcripts: 46 — 35 protein_coding, 7 retained_intron, 4 protein_coding_CDS_not_defined

ENST00000278919, ENST00000366139, ENST00000392709, ENST00000524427, ENST00000524435, ENST00000526507, ENST00000527350, ENST00000527534, ENST00000528863, ENST00000530096, ENST00000530526, ENST00000532778, ENST00000532981, ENST00000533294, ENST00000534022, ENST00000577924, ENST00000648911, ENST00000863673, ENST00000863674, ENST00000863675, ENST00000863676, ENST00000863677, ENST00000863678, ENST00000863679, ENST00000863680, ENST00000863681, ENST00000863682, ENST00000863683, ENST00000863684, ENST00000863685, ENST00000863686, ENST00000863687, ENST00000863688, ENST00000936093, ENST00000936094, ENST00000936095, ENST00000964998, ENST00000964999, ENST00000965000, ENST00000965001, ENST00000965002, ENST00000965003, ENST00000965004, ENST00000965005, ENST00000965006, ENST00000965007

RefSeq mRNA: 2 — MANE Select: NM_005103 NM_005103, NM_022549

CCDS: CCDS31716, CCDS44758

Canonical transcript exons

ENST00000278919 — 10 exons

Exon	Start	End
ENSE00001554741	125496121	125496265
ENSE00003489629	125463484	125463570
ENSE00003566657	125452334	125452409
ENSE00003582509	125481534	125481633
ENSE00003613253	125454130	125454210
ENSE00003653471	125455835	125456106
ENSE00003659172	125489467	125489822
ENSE00003668765	125448502	125448567
ENSE00003683697	125460498	125460666
ENSE00003836674	125442881	125446111

Expression profiles

Bgee: expression breadth ubiquitous, 273 present calls, max score 99.90.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.1402 / max 1266.6634, expressed in 1649 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
122992	27.4095	1197
122995	2.7421	1126
122987	2.1919	83
122990	0.8802	276
122988	0.3190	127
122991	0.1979	97
122994	0.1725	90
122996	0.1506	65
122989	0.1384	70
122986	0.0444	14

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
inferior olivary complex	UBERON:0002127	99.90	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	99.89	gold quality
spinal cord	UBERON:0002240	99.88	gold quality
inferior vagus X ganglion	UBERON:0005363	99.86	gold quality
corpus callosum	UBERON:0002336	99.83	gold quality
medulla oblongata	UBERON:0001896	99.77	gold quality
subthalamic nucleus	UBERON:0001906	99.77	gold quality
middle frontal gyrus	UBERON:0002702	99.77	gold quality
prefrontal cortex	UBERON:0000451	99.75	gold quality
pons	UBERON:0000988	99.75	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	99.71	gold quality
midbrain	UBERON:0001891	99.70	gold quality
substantia nigra	UBERON:0002038	99.70	gold quality
cortical plate	UBERON:0005343	99.70	gold quality
putamen	UBERON:0001874	99.68	gold quality
lateral globus pallidus	UBERON:0002476	99.68	gold quality
superior vestibular nucleus	UBERON:0007227	99.68	gold quality
caudate nucleus	UBERON:0001873	99.67	gold quality
substantia nigra pars reticulata	UBERON:0001966	99.67	gold quality
right frontal lobe	UBERON:0002810	99.67	gold quality
amygdala	UBERON:0001876	99.65	gold quality
dorsal plus ventral thalamus	UBERON:0001897	99.65	gold quality
hypothalamus	UBERON:0001898	99.64	gold quality
cranial nerve II	UBERON:0000941	99.61	gold quality
Brodmann (1909) area 9	UBERON:0013540	99.60	gold quality
nucleus accumbens	UBERON:0001882	99.59	gold quality
Ammon’s horn	UBERON:0001954	99.59	gold quality
cerebellar hemisphere	UBERON:0002245	99.59	gold quality
ventral tegmental area	UBERON:0002691	99.59	gold quality
cerebellar cortex	UBERON:0002129	99.58	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-HCAD-56	yes	598.46
E-MTAB-6524	yes	367.98
E-HCAD-5	yes	43.69
E-GEOD-84465	yes	13.59
E-MTAB-7316	yes	12.67
E-GEOD-86618	no	145.21
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

19 targeting FEZ1, 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-607	99.97	73.62	5593
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-6848-3P	99.64	66.49	885
HSA-MIR-4786-3P	99.36	68.35	1390
HSA-MIR-329-5P	99.27	68.11	1597
HSA-MIR-4721	99.26	66.05	818
HSA-MIR-6843-3P	99.26	66.42	915
HSA-MIR-5190	99.15	67.76	1234
HSA-MIR-655-5P	98.74	65.93	888
HSA-MIR-4446-3P	97.91	64.29	991
HSA-MIR-146B-3P	97.83	65.29	782
HSA-MIR-493-3P	97.50	66.44	731
HSA-MIR-320E	97.49	65.96	865
HSA-MIR-1226-5P	96.50	65.28	643
HSA-MIR-324-5P	95.68	65.20	560
HSA-MIR-4474-5P	94.23	67.95	568

Literature-anchored findings (GeneRIF, showing 29)

• interacts with NBR1 protein (PMID:11856312)
• FEZ1 is an interacting partner of DISC1. The interaction of DISC1 and FEZ1 is associated with direct FEZ1 binding to F-actin. (PMID:12874605)
• E4B serves as a ubiquitin ligase for FEZ1 and thereby regulates its function but not its degradation (PMID:15466860)
• A modest association between FEZ1 and Schizophrenia was found. (PMID:15522253)
• FEZ1 promotes neurite extension through its interaction with microtubules, and agnoprotein facilitates JCV propagation by inducing the dissociation of FEZ1 from microtubules (PMID:15843383)
• the C-terminal regions of FEZ1, and especially its coiled-coil region, are involved in its dimerization, its heterodimerization with FEZ2, and in the interaction with 10 of the identified interacting proteins (PMID:16484223)
• Binding of JIP1 and FEZ1 to Kinesin-1 is sufficient to activate the motor for microtubule binding and motility. (PMID:17200414)
• We concluded that the missense mutation Asp123Glu of the FEZ1 gene is unlikely to play a substantial role in the genetic susceptibility to schizophrenia. (PMID:17374448)
• Data suggest that FEZ1 has an important centrosomal function and supply new mechanistic insights to the formation of flower-like nuclei, which are a phenotypical hallmark of human leukemia cells. (PMID:18439996)
• Data show that the expression of FEZ1,GAD1, and RGS4 are high correlated with one another in the prefrontal cortex of postmortem brain samples. (PMID:18470533)
• Human FEZ1 has characteristics of a natively unfolded protein and dimerizes in solution. (PMID:18615714)
• There was no strong evidence for association with FEZ1 in schizophrenia. (PMID:19632097)
• FEZ1 appears to represent a unique neuron-specific determinant of cellular susceptibility to infection in a cell type that is naturally resistant to HIV-1 (PMID:19667186)
• Data report that NEK1 and CLASP2 colocalize with FEZ1 in a perinuclear region in mammalian cells, and observed that coiled-coil interactions occur between FEZ1/CLASP2 and FEZ1/NEK1 in vitro. (PMID:19924516)
• Studies indicate that suppression of FEZ1 expression in cultured embryonic neurons causes deficiency of neuronal differentiation. (PMID:20730382)
• Demonstrated the formation of an intermolecular disulfide bond through FEZ1 Cys-133, which appears to be essential for dimerization. (PMID:20812761)
• FEZ2 interacted with 59 proteins and that of these only 40 interacted with FEZ1. (PMID:21408165)
• The data of this study suggested that FEZ1 may play important roles in human astrocytes, and that mood stabilizers might exert their cytoprotective and mood-stabilizing effects by inducing FEZ1 expression in astrocytes. (PMID:22017218)
• Genetic association analysis of two independent cohorts of schizophrenia patients and healthy controls reveals an epistatic interaction between FEZ1 and disrupted in schizophrenia (DISC)1. (PMID:22099459)
• FEZ1 operates as a kinesin adaptor for the transport of Stx, with cargo loading and unloading being regulated by protein kinases. (PMID:22451907)
• Short Disrupted-in-Schizophrenia (DISC)1 splice variants show reduced or no binding to NDEL1 and phosphodiesterase (PDE)4B proteins but fully interact with FEZ1 and GSK3beta. (PMID:22832604)
• SCOC forms a stable homogeneous complex with the coiled coil domain of FEZ1. SCOC dimerization and the SCOC surface residue R117 are important for this interaction. (PMID:24098481)
• Studies indicate that FEZ1 (fasciculation and elongation protein zeta 1), SCOCO (short coiled-coil protein) and kinesins (kinesin heavy chain) are involved in biological transport process. (PMID:24116125)
• FEZ1 promotes HIV-1 infection in non-neuronal cells via direct binding to the capsid and kinesin-1 to move the virus into the cell nucleus. (PMID:25818806)
• FEZ1 Is Recruited to a Conserved Cofactor Site on Capsid to Promote HIV-1 Trafficking. (PMID:31422020)
• Diagnosis of numerous cancers has been closely linked to the expression of certain long non-coding RNAs. This study aimed to evaluate levels of plasma FEZ family zinc finger 1 antisense RNA 1 (FEZF1-AS1) relative to non-small-cell lung carcinoma (NSCLC) diagnosis. (PMID:32590821)
• Loss of FEZ1, a gene deleted in Jacobsen syndrome, causes locomotion defects and early mortality by impairing motor neuron development. (PMID:33395696)
• FEZ1 phosphorylation regulates HSPA8 localization and interferon-stimulated gene expression. (PMID:35172151)
• FEZ1 Plays Dual Roles in Early HIV-1 Infection by Independently Regulating Capsid Transport and Host Interferon-Stimulated Gene Expression. (PMID:37219433)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	fez1	ENSDARG00000023174
mus_musculus	Fez1	ENSMUSG00000032118
rattus_norvegicus	Fez1	ENSRNOG00000006075
drosophila_melanogaster	Unc-76	FBGN0040395
caenorhabditis_elegans		WBGENE00006808

Paralogs (1): FEZ2 (ENSG00000171055)

Protein

Protein identifiers

Fasciculation and elongation protein zeta-1 — Q99689 (reviewed: Q99689)

Alternative names: Zygin I, Zygin-1

All UniProt accessions (3): Q99689, E9PNH2, J3KTR6

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in axonal outgrowth as component of the network of molecules that regulate cellular morphology and axon guidance machinery. Able to restore partial locomotion and axonal fasciculation to C.elegans unc-76 mutants in germline transformation experiments. May participate in the transport of mitochondria and other cargos along microtubules.

Subunit / interactions. Homodimer; disulfide-linked. May form heterodimers with FEZ2. Interacts with the NH2-terminal variable region (V1) of PKC zeta and weakly with that of PKC epsilon. Interacts with UBE4B. Interacts with SAP30L. Interacts with SCOC and ULK1; SCOC interferes with ULK1-binding to FEZ1. Directly interacts with SCOC and UVRAG. Stabilizes the interaction between SCOC and UVRAG during amino acid starvation.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Cell membrane.

Tissue specificity. Mainly expressed in brain.

Post-translational modifications. Phosphorylated by protein kinase C zeta; which enhances interaction with UBE4B and polyubiquitination. Polyubiquitinated in a UBE4B-dependent manner; which does not lead to proteasomal degradation and may be important for neurogenic activity. Polyubiquitin linkage seems to be mainly through Lys-26.

Similarity. Belongs to the zygin family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q99689-1	Long	yes
Q99689-2	Short, FEZ1-T

RefSeq proteins (2): NP_005094, NP_072043 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011680	FEZ	Family

Pfam: PF07763

UniProt features (15 total): mutagenesis site 4, modified residue 3, region of interest 2, chain 1, sequence variant 1, coiled-coil region 1, compositionally biased region 1, disulfide bond 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q99689-F1	67.83	0.19

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 (3): 58, 298, 316

Disulfide bonds (1): 133

Mutagenesis-validated functional residues (4):

Position	Phenotype
248	no effect on scoc–binding.
254	loss of scoc-binding. no effect on ulk1-binding.
260	loss of scoc-binding. no effect on ulk1-binding.
264	no effect on scoc-binding.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 246 (showing top): GOBP_REGULATION_OF_AUTOPHAGY, BENPORATH_ES_WITH_H3K27ME3, GOBP_AXO_DENDRITIC_TRANSPORT, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_VACUOLE_ORGANIZATION, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, SCHLESINGER_METHYLATED_DE_NOVO_IN_CANCER, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_VACUOLE_ORGANIZATION, GOBP_ORGANELLE_TRANSPORT_ALONG_MICROTUBULE, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, SHIRAISHI_PLZF_TARGETS_UP

GO Biological Process (11): mitochondrion organization (GO:0007005), cell adhesion (GO:0007155), nervous system development (GO:0007399), axon guidance (GO:0007411), positive regulation of neuron projection development (GO:0010976), hippocampus development (GO:0021766), establishment of cell polarity (GO:0030010), establishment of mitochondrion localization (GO:0051654), positive regulation of anterograde axonal transport of mitochondrion (GO:0061881), cellular response to growth factor stimulus (GO:0071363), negative regulation of autophagosome assembly (GO:1902902)

GO Molecular Function (3): protein kinase C binding (GO:0005080), gamma-tubulin binding (GO:0043015), protein binding (GO:0005515)

GO Cellular Component (12): cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), centrosome (GO:0005813), microtubule (GO:0005874), plasma membrane (GO:0005886), axon (GO:0030424), dendrite (GO:0030425), growth cone (GO:0030426), neuronal cell body (GO:0043025), cytoskeleton (GO:0005856), membrane (GO:0016020), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
neuron projection	2
organelle organization	1
cellular process	1
system development	1
axonogenesis	1
neuron projection guidance	1
regulation of neuron projection development	1
neuron projection development	1
positive regulation of cell projection organization	1
pallium development	1
limbic system development	1
anatomical structure development	1
establishment or maintenance of cell polarity	1
mitochondrion localization	1
establishment of organelle localization	1
positive regulation of intracellular transport	1
regulation of anterograde axonal transport of mitochondrion	1
anterograde axonal transport of mitochondrion	1
response to growth factor	1
cellular response to endogenous stimulus	1
autophagosome assembly	1
negative regulation of macroautophagy	1
negative regulation of organelle assembly	1
regulation of autophagosome assembly	1
protein kinase binding	1
tubulin binding	1
binding	1
intracellular anatomical structure	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
centriole	1
microtubule organizing center	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
membrane	1
cell periphery	1
dendritic tree	1
site of polarized growth	1

Protein interactions and networks

STRING

1144 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FEZ1	SYT1	P21579	833
FEZ1	SCOC	Q9UIL1	820
FEZ1	DISC1	Q9NRI5	743
FEZ1	ZNF365	Q70YC5	740
FEZ1	KIF5B	P33176	730
FEZ1	UNC119	Q13432	707
FEZ1	SYBU	Q9NX95	613
FEZ1	PRKCZ	Q05513	560
FEZ1	GULP1	Q9UBP9	549
FEZ1	STXBP1	P61764	513
FEZ1	IGDCC3	Q8IVU1	507
FEZ1	UVRAG	Q9P2Y5	507
FEZ1	ULK1	O75385	506
FEZ1	TRAK2	O60296	504
FEZ1	KIF3A	Q9Y496	496

IntAct

60 interactions, top by confidence:

A	B	Type	Score
Khc	Klc	psi-mi:“MI:0914”(association)	0.810
FEZ1	HTT	psi-mi:“MI:0915”(physical association)	0.720
HTT	FEZ1	psi-mi:“MI:0915”(physical association)	0.720
FEZ1	SCOC	psi-mi:“MI:0915”(physical association)	0.700
SCOC	FEZ1	psi-mi:“MI:0403”(colocalization)	0.700
Khc	FEZ1	psi-mi:“MI:0407”(direct interaction)	0.600
FEZ1	PAM16	psi-mi:“MI:0915”(physical association)	0.550
FEZ1	TTR	psi-mi:“MI:0915”(physical association)	0.550
FEZ1	NEK1	psi-mi:“MI:0915”(physical association)	0.510
CEP126	FEZ1	psi-mi:“MI:0915”(physical association)	0.510
FEZ1	CEP126	psi-mi:“MI:0915”(physical association)	0.510
FEZ1	TXNDC9	psi-mi:“MI:0915”(physical association)	0.510
ULK1	FEZ1	psi-mi:“MI:0915”(physical association)	0.400
BARD1	FEZ1	psi-mi:“MI:0915”(physical association)	0.370
FEZ1	IMMT	psi-mi:“MI:0915”(physical association)	0.370
LRIF1	FEZ1	psi-mi:“MI:0915”(physical association)	0.370
FEZ1		psi-mi:“MI:0915”(physical association)	0.370
PTN	FEZ1	psi-mi:“MI:0915”(physical association)	0.370
C8orf33	FEZ1	psi-mi:“MI:0915”(physical association)	0.370
FEZ1	GEMIN7	psi-mi:“MI:0915”(physical association)	0.370
MEST	FEZ1	psi-mi:“MI:0915”(physical association)	0.370
SERPINH1	FEZ1	psi-mi:“MI:0915”(physical association)	0.370
TAF1D	FEZ1	psi-mi:“MI:0915”(physical association)	0.370
FEZ1		psi-mi:“MI:0914”(association)	0.350
FEZ1	POLRMT	psi-mi:“MI:0914”(association)	0.350

BioGRID (124): SCOC (Affinity Capture-MS), ANK3 (Affinity Capture-MS), DGKD (Affinity Capture-MS), ZYG11A (Affinity Capture-MS), NELFA (Affinity Capture-MS), TUBA3C (Affinity Capture-MS), CEP192 (Affinity Capture-MS), KLHDC2 (Affinity Capture-MS), AURKA (Affinity Capture-MS), HTT (Affinity Capture-MS), MRS2 (Affinity Capture-MS), SEPN1 (Affinity Capture-MS), LANCL2 (Affinity Capture-MS), IFT140 (Affinity Capture-MS), MED25 (Affinity Capture-MS)

ESM2 similar proteins: A0A1W2P884, A2BGP7, A2CE83, A2RV61, B1A193, O75901, O88480, O88869, P97577, Q155Q3, Q3UMB5, Q3V036, Q4R7V1, Q5PQQ9, Q5RDE3, Q5SZL2, Q5TID7, Q5U465, Q5VX52, Q5XI56, Q5XIR4, Q6AY22, Q6AYN9, Q6INI0, Q6IQY5, Q6NRK1, Q6NRX3, Q6PF55, Q80VH0, Q80ZU5, Q86Z20, Q8BGI4, Q8C115, Q8CGZ2, Q8CJ96, Q8HYW0, Q8IVE3, Q8K0X8, Q8K342, Q8N4X5

Diamond homologs: P97577, P97578, Q6TYB5, Q8K0X8, Q99689, Q9UHY8

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
UBE4B	“up-regulates activity”	FEZ1	polyubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	44
Likely benign	0
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

2619 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:125448510:A:T	I385N	1.000
11:125448522:A:G	L381P	1.000
11:125448522:A:T	L381Q	1.000
11:125448564:A:G	L367P	1.000
11:125452351:A:G	L360P	1.000
11:125455953:A:G	L274P	1.000
11:125456004:C:G	R257P	1.000
11:125489580:A:C	F66L	1.000
11:125489580:A:T	F66L	1.000
11:125489582:A:G	F66L	1.000
11:125489593:A:G	L62P	1.000
11:125448507:A:G	L386S	0.999
11:125448510:A:C	I385S	0.999
11:125448510:A:G	I385T	0.999
11:125448514:A:C	Y384D	0.999
11:125452342:A:G	L363P	0.999
11:125452393:A:C	I346S	0.999
11:125452393:A:G	I346T	0.999
11:125452393:A:T	I346N	0.999
11:125455964:A:C	F270L	0.999
11:125455964:A:T	F270L	0.999
11:125455965:A:G	F270S	0.999
11:125455966:A:G	F270L	0.999
11:125456013:A:G	L254P	0.999
11:125456025:A:G	L250P	0.999
11:125460653:A:C	I171S	0.999
11:125481627:C:A	W106C	0.999
11:125481627:C:G	W106C	0.999
11:125481629:A:G	W106R	0.999
11:125481629:A:T	W106R	0.999

dbSNP variants (sampled 300 via entrez): RS1000069796 (11:125447263 A>C), RS1000072017 (11:125493193 G>A), RS1000089272 (11:125477270 G>A), RS1000121669 (11:125447052 A>G,T), RS1000165510 (11:125470880 A>G), RS1000320327 (11:125483085 A>G), RS1000336117 (11:125458184 T>A), RS1000393628 (11:125464897 G>A), RS1000480158 (11:125480082 A>G), RS1000499307 (11:125455046 C>A), RS1000552938 (11:125466339 G>A), RS1000581928 (11:125445057 C>T), RS1000619136 (11:125458346 T>C), RS1000676967 (11:125493615 A>G), RS1000849181 (11:125464663 T>A)

Disease associations

OMIM: gene MIM:604825 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST001565_12	Schizophrenia	7.000000e-07
GCST001851_6	Schizophrenia	3.000000e-06
GCST002861_2	Breast cancer (survival)	1.000000e-09
GCST90013663_57	Alanine aminotransferase levels	5.000000e-10
GCST90013664_87	Aspartate aminotransferase levels	5.000000e-19

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0000714	survival time
EFO:0004736	aspartate aminotransferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, increases expression	8
trichostatin A	affects cotreatment, decreases expression, increases expression	3
bisphenol A	decreases expression, increases expression	2
mercuric bromide	decreases expression, affects cotreatment	2
Panobinostat	affects cotreatment, decreases expression	2
Benzo(a)pyrene	affects methylation	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Cadmium Chloride	decreases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
testosterone enanthate	affects expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
methylselenic acid	increases expression	1
arsenite	decreases methylation	1
sodium arsenite	affects methylation	1
butyraldehyde	increases expression	1
alpha-cobratoxin	decreases expression, increases reaction	1
aflatoxin B2	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	decreases expression	1
isobutyl alcohol	affects cotreatment, increases abundance, increases expression	1
N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine	increases expression	1
beta-methylcholine	affects expression	1
pentanal	increases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
nutlin 3	increases expression, affects cotreatment	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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