KIF12

Summary

KIF12 (kinesin family member 12, HGNC:21495) is a protein-coding gene on chromosome 9q32, encoding Kinesin-like protein KIF12 (Q96FN5). Involved in the negative regulation of fatty acid biosynthesis, probably acting as an adapter that allows ubiquitination of acetyl-CoA carboxylase 1 (ACACA) by E3 ubiquitin-protein ligase COP1, and promotes ACACA degradation.

This gene encodes a member of the kinesin superfamily of microtubule-associated molecular motors with functions related to the microtubule cytosekelton. Members of this superfamily play important roles in intracellular transport and cell division. A similar protein in mouse functions in the beta cell antioxidant signaling cascade, acting as a scaffold for the transcription factor specificity protein 1 (Sp1). Mice that lack this gene exhibit beta cell oxidative stress resulting in hypoinsulinemic glucose intolerance.

Source: NCBI Gene 113220 — RefSeq curated summary.

At a glance

• Gene–disease (curated): cholestasis, progressive familial intrahepatic, 8 (Strong, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 181 total — 5 pathogenic, 9 likely-pathogenic
• Phenotypes (HPO): 24
• MANE Select transcript: NM_001388308

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21495
Approved symbol	KIF12
Name	kinesin family member 12
Location	9q32
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000136883
Ensembl biotype	protein_coding
OMIM	611278
Entrez	113220

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 4 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay

ENST00000473174, ENST00000491059, ENST00000498016, ENST00000639832, ENST00000640217, ENST00000640553, ENST00000643988, ENST00000691154, ENST00000905877

RefSeq mRNA: 2 — MANE Select: NM_001388308 NM_001388308, NM_138424

CCDS: CCDS94465

Canonical transcript exons

ENST00000640217 — 19 exons

Exon	Start	End
ENSE00003310902	114094181	114094271
ENSE00003352170	114096051	114096207
ENSE00003375746	114093229	114093333
ENSE00003504427	114091638	114092000
ENSE00003520133	114096387	114096478
ENSE00003539083	114093407	114093497
ENSE00003562485	114093886	114093972
ENSE00003578309	114095214	114095332
ENSE00003603547	114097301	114097436
ENSE00003610918	114092333	114092451
ENSE00003617479	114094353	114094455
ENSE00003676852	114095023	114095127
ENSE00003690712	114092542	114092642
ENSE00003801730	114099251	114099292
ENSE00003803034	114098302	114098429
ENSE00003803980	114098935	114099013
ENSE00003806473	114099104	114099169
ENSE00003806543	114097607	114097741
ENSE00003811140	114098115	114098190

Expression profiles

Bgee: expression breadth ubiquitous, 165 present calls, max score 99.15.

FANTOM5 (CAGE): breadth broad, TPM avg 1.5214 / max 318.4839, expressed in 256 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
102136	0.9463	135
102133	0.3984	163
102131	0.0582	21
102132	0.0344	15
102130	0.0309	12
102135	0.0309	11
205599	0.0222	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
metanephros cortex	UBERON:0010533	99.15	gold quality
body of pancreas	UBERON:0001150	98.04	gold quality
adult mammalian kidney	UBERON:0000082	95.37	gold quality
cortex of kidney	UBERON:0001225	93.19	gold quality
gall bladder	UBERON:0002110	93.05	gold quality
right lobe of liver	UBERON:0001114	92.88	gold quality
right uterine tube	UBERON:0001302	92.69	gold quality
left lobe of thyroid gland	UBERON:0001120	92.29	gold quality
right lobe of thyroid gland	UBERON:0001119	92.08	gold quality
kidney epithelium	UBERON:0004819	91.82	silver quality
kidney	UBERON:0002113	91.59	gold quality
thyroid gland	UBERON:0002046	91.47	gold quality
pancreas	UBERON:0001264	89.75	gold quality
mucosa of transverse colon	UBERON:0004991	89.63	gold quality
metanephros	UBERON:0000081	88.06	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.83	gold quality
renal medulla	UBERON:0000362	85.44	gold quality
liver	UBERON:0002107	84.25	gold quality
duodenum	UBERON:0002114	82.25	gold quality
small intestine Peyer’s patch	UBERON:0003454	81.50	gold quality
small intestine	UBERON:0002108	80.93	gold quality
colonic epithelium	UBERON:0000397	79.63	gold quality
buccal mucosa cell	CL:0002336	79.35	gold quality
transverse colon	UBERON:0001157	78.66	gold quality
islet of Langerhans	UBERON:0000006	77.42	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	77.36	gold quality
body of stomach	UBERON:0001161	76.77	gold quality
nucleus accumbens	UBERON:0001882	76.22	gold quality
upper arm skin	UBERON:0004263	76.22	gold quality
cerebellar vermis	UBERON:0004720	75.68	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-HCAD-10	yes	33.07
E-MTAB-6678	yes	8.92
E-ANND-3	yes	5.55
E-GEOD-125970	yes	4.55

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HNF1B, TCF7L2

miRNA regulators (miRDB)

11 targeting KIF12, 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-4753-3P	99.90	71.03	3786
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-646	99.68	67.84	1645
HSA-MIR-6516-3P	99.65	68.57	1238
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-130A-5P	99.33	70.26	2623
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-622	98.99	66.48	1050
HSA-MIR-7843-3P	98.31	67.94	803
HSA-MIR-4723-3P	97.67	65.91	1017
HSA-MIR-6769B-3P	97.41	65.53	1036

Literature-anchored findings (GeneRIF, showing 3)

• KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease. (PMID:34555379)
• Spatio-Temporal Expression Pattern of CAKUT Candidate Genes DLG1 and KIF12 during Human Kidney Development. (PMID:36830709)
• Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes. (PMID:37866826)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Kif12	ENSMUSG00000028357
rattus_norvegicus	Kif12	ENSRNOG00000007080
drosophila_melanogaster	Klp54D	FBGN0263076

Paralogs (41): KIF1B (ENSG00000054523), KIF26A (ENSG00000066735), KIF2A (ENSG00000068796), KIF22 (ENSG00000079616), KIF3C (ENSG00000084731), KIF9 (ENSG00000088727), KIF16B (ENSG00000089177), KIF4A (ENSG00000090889), KIF3B (ENSG00000101350), KIF20A (ENSG00000112984), KIF21B (ENSG00000116852), KIF17 (ENSG00000117245), KIF14 (ENSG00000118193), KIF18A (ENSG00000121621), KIF25 (ENSG00000125337), KIF1C (ENSG00000129250), KIF1A (ENSG00000130294), KIF3A (ENSG00000131437), KIF13A (ENSG00000137177), KIF23 (ENSG00000137807), KIF11 (ENSG00000138160), CENPE (ENSG00000138778), KIF21A (ENSG00000139116), KIFC3 (ENSG00000140859), KIF2B (ENSG00000141200), KIF2C (ENSG00000142945), KIF5A (ENSG00000155980), KIF26B (ENSG00000162849), KIF15 (ENSG00000163808), KIF6 (ENSG00000164627), KIF27 (ENSG00000165115), KIF7 (ENSG00000166813), KIFC2 (ENSG00000167702), KIF5C (ENSG00000168280), KIF5B (ENSG00000170759), KIF18B (ENSG00000186185), KIF24 (ENSG00000186638), KIF19 (ENSG00000196169), KIF13B (ENSG00000197892), KIF4B (ENSG00000226650)

Protein

Protein identifiers

Kinesin-like protein KIF12 — Q96FN5 (reviewed: Q96FN5)

All UniProt accessions (5): A0A1W2PNV5, A0A1W2PP63, A0A1W2PPS5, A0A2R8Y6R2, A0A8I5KWX3

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the negative regulation of fatty acid biosynthesis, probably acting as an adapter that allows ubiquitination of acetyl-CoA carboxylase 1 (ACACA) by E3 ubiquitin-protein ligase COP1, and promotes ACACA degradation. The adapter function requires the C-terminal proline-rich domain and may be apart from the kinesin motor activity.

Subcellular location. Cytoplasm. Cytoskeleton. Cell projection. Cilium.

Tissue specificity. Expressed in fetal liver, adult brain and pancreatic islet as well as in kidney tumors, uterus cancer and pancreatic cancer.

Disease relevance. Cholestasis, progressive familial intrahepatic, 8 (PFIC8) [MIM:619662] An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC8 onset is in early infancy. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.

RefSeq proteins (2): NP_001375237, NP_612433 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001752	Kinesin_motor_dom	Domain
IPR019821	Kinesin_motor_CS	Conserved_site
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR027640	Kinesin-like_fam	Family
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily

Pfam: PF00225

UniProt features (21 total): sequence variant 7, modified residue 4, region of interest 3, compositionally biased region 3, chain 1, domain 1, coiled-coil region 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96FN5-F1	71.01	0.30

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (1): 104–111

Post-translational modifications (4): 6, 14, 369, 638

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-6811434	COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-983189	Kinesins

MSigDB gene sets: 169 (showing top): GOBP_NEGATIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS, GOCC_KINESIN_COMPLEX, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS, AREB6_01, REACTOME_MEMBRANE_TRAFFICKING, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_KETONE_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_FATTY_ACID_METABOLIC_PROCESS, GOBP_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_LIPID_METABOLIC_PROCESS, GOBP_REGULATION_OF_KETONE_METABOLIC_PROCESS, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY

GO Biological Process (3): ubiquitin-dependent protein catabolic process (GO:0006511), microtubule-based movement (GO:0007018), negative regulation of fatty acid biosynthetic process (GO:0045717)

GO Molecular Function (7): microtubule motor activity (GO:0003777), ATP binding (GO:0005524), microtubule binding (GO:0008017), ATP hydrolysis activity (GO:0016887), ubiquitin-like ligase-substrate adaptor activity (GO:1990756), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774)

GO Cellular Component (7): cytoplasm (GO:0005737), kinesin complex (GO:0005871), microtubule (GO:0005874), cilium (GO:0005929), extracellular exosome (GO:0070062), cytoskeleton (GO:0005856), organelle (GO:0043226)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Golgi-to-ER retrograde transport	1
Factors involved in megakaryocyte development and platelet production	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ATP-dependent activity	2
cellular anatomical structure	2
protein ubiquitination	1
modification-dependent protein catabolic process	1
microtubule-based process	1
fatty acid biosynthetic process	1
regulation of fatty acid biosynthetic process	1
negative regulation of fatty acid metabolic process	1
negative regulation of lipid biosynthetic process	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
tubulin binding	1
ribonucleoside triphosphate phosphatase activity	1
enzyme-substrate adaptor activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
intracellular anatomical structure	1
microtubule associated complex	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
extracellular vesicle	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

902 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KIF12	PKHD1	P08F94	519
KIF12	HNF1B	P35680	475
KIF12	PAH	P00439	453
KIF12	CCHCR1	Q8TD31	417
KIF12	KIFAP3	Q92845	415
KIF12	AFM	P43652	399
KIF12	ZFYVE19	Q96K21	394
KIF12	YPEL1	O60688	379
KIF12	SMIM19	Q96E16	366
KIF12	OR8B12	Q8NGG6	360
KIF12	KANSL2	Q9H9L4	350
KIF12	GLIS2	Q9BZE0	340
KIF12	UMOD	P07911	340
KIF12	PPM1F	P49593	338
KIF12	WDR83OS	Q9Y284	336

IntAct

5 interactions, top by confidence:

A	B	Type	Score
KIF12	MMADHC	psi-mi:“MI:0915”(physical association)	0.400
CFTR	KIF12	psi-mi:“MI:0915”(physical association)	0.370
KIF12	CVC2	psi-mi:“MI:0915”(physical association)	0.370
MYC		psi-mi:“MI:0914”(association)	0.350

BioGRID (9): CLPX (Affinity Capture-MS), MMADHC (Affinity Capture-MS), MMADHC (Affinity Capture-MS), KIF12 (Two-hybrid), KIF12 (Biochemical Activity), KIF12 (PCA), KIF12 (PCA), KIF12 (Protein-peptide), KIF12 (Affinity Capture-RNA)

ESM2 similar proteins: A0A061IR73, A2ARS0, A6NE52, A6QPE7, A8MYJ7, A8VU90, C9JTQ0, E1BD59, E5RJM6, O08672, P54777, Q08353, Q0P5G1, Q0V8J4, Q13470, Q13608, Q15653, Q28616, Q2TB02, Q3SWY4, Q3UYR4, Q53GL7, Q58EX7, Q5IJ48, Q5JR98, Q60778, Q62893, Q6EMK4, Q6F5E8, Q6MG64, Q6P7C4, Q6UX07, Q6ZMH5, Q6ZVH7, Q6ZVZ8, Q7RTR2, Q8CDY7, Q8CIE4, Q8K592, Q8NI38

Diamond homologs: A0A068FIK2, A0JN40, A8BB91, A8BKD1, B2GU58, B7EJ91, B7ZNG0, B9F2Y7, B9F7C8, B9FS33, B9G3M6, B9GE13, F1M5N7, F1QN54, F4IIS5, F4K0J3, G5EGS3, O14343, O14782, O15066, O23826, O35066, O43093, O45935, O55165, O59751, O60282, O75037, O95239, P21613, P24339, P28025, P28738, P28741, P33174, P33175, P33176, P46863, P46867, P46869

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	9
Uncertain significance	105
Likely benign	36
Benign	18

Top pathogenic / likely-pathogenic (14)

Variant ID	HGVS	Classification
1328486	NM_001388308.1(KIF12):c.1069C>T (p.Arg357Ter)	Pathogenic
1328488	NM_001388308.1(KIF12):c.877C>T (p.Arg293Ter)	Pathogenic
2964497	NM_001388308.1(KIF12):c.697C>T (p.Arg233Ter)	Pathogenic
2965869	NM_001388308.1(KIF12):c.1551_1558del (p.Ala519fs)	Pathogenic
4781229	NM_001388308.1(KIF12):c.721del (p.Tyr241fs)	Pathogenic
1328487	NM_001388308.1(KIF12):c.1024G>A (p.Val342Met)	Likely pathogenic
1705359	NM_001388308.1(KIF12):c.430del (p.Ala144fs)	Likely pathogenic
2835798	NM_001388308.1(KIF12):c.1698-1G>C	Likely pathogenic
3064811	NM_001388308.1(KIF12):c.375+1G>T	Likely pathogenic
3064812	NM_001388308.1(KIF12):c.1723C>T (p.Arg575Ter)	Likely pathogenic
4279710	NM_001388308.1(KIF12):c.1103G>A (p.Arg368Gln)	Likely pathogenic
4292894	NM_001388308.1(KIF12):c.1623_1624insCC (p.Arg542fs)	Likely pathogenic
4293689	NM_001388308.1(KIF12):c.92+2T>C	Likely pathogenic
4819688	NM_001388308.1(KIF12):c.896dup	Likely pathogenic

SpliceAI

2497 predictions. Top by Δscore:

Variant	Effect	Δscore
9:114092322:C:CA	donor_gain	1.0000
9:114092458:CAGGG:C	acceptor_gain	1.0000
9:114092459:A:T	acceptor_gain	1.0000
9:114093880:GCTTA:G	donor_loss	1.0000
9:114093883:TA:T	donor_loss	1.0000
9:114093884:A:AC	donor_gain	1.0000
9:114093884:A:AG	donor_loss	1.0000
9:114093885:C:CC	donor_gain	1.0000
9:114093885:CCT:C	donor_gain	1.0000
9:114093885:CCTCT:C	donor_gain	1.0000
9:114093971:TCCTA:T	acceptor_loss	1.0000
9:114093984:C:CT	acceptor_gain	1.0000
9:114094349:ATAC:A	donor_gain	1.0000
9:114094350:TA:T	donor_loss	1.0000
9:114094351:A:AC	donor_gain	1.0000
9:114094351:AC:A	donor_gain	1.0000
9:114094351:ACC:A	donor_gain	1.0000
9:114094351:ACCCT:A	donor_loss	1.0000
9:114094352:C:CC	donor_gain	1.0000
9:114094352:CC:C	donor_gain	1.0000
9:114094352:CCC:C	donor_gain	1.0000
9:114094451:GGAGA:G	acceptor_gain	1.0000
9:114094452:GAGA:G	acceptor_gain	1.0000
9:114094453:AGA:A	acceptor_gain	1.0000
9:114094454:GA:G	acceptor_gain	1.0000
9:114094456:C:CC	acceptor_gain	1.0000
9:114094456:CTGTA:C	acceptor_loss	1.0000
9:114094458:G:C	acceptor_gain	1.0000
9:114095232:C:CA	donor_gain	1.0000
9:114095235:T:TA	donor_gain	1.0000

AlphaMissense

4143 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:114095325:G:C	C296W	0.999
9:114095326:C:T	C296Y	0.998
9:114096064:G:C	S289R	0.998
9:114096064:G:T	S289R	0.998
9:114096066:T:G	S289R	0.998
9:114095066:G:T	A354E	0.997
9:114095263:A:T	L317H	0.997
9:114095268:G:C	S315R	0.997
9:114095268:G:T	S315R	0.997
9:114095270:T:G	S315R	0.997
9:114096140:A:G	L264P	0.997
9:114096143:T:C	D263G	0.997
9:114098146:T:A	K110M	0.997
9:114098149:C:A	G109V	0.997
9:114098149:C:T	G109E	0.997
9:114098164:C:A	G104V	0.997
9:114098164:C:T	G104D	0.997
9:114098166:A:C	F103L	0.997
9:114098166:A:T	F103L	0.997
9:114098168:A:G	F103L	0.997
9:114095057:G:T	A357D	0.996
9:114095119:G:C	C336W	0.996
9:114095218:A:G	L332P	0.996
9:114095251:A:G	L321P	0.996
9:114095251:A:T	L321Q	0.996
9:114095254:A:G	L320S	0.996
9:114095269:C:A	S315I	0.996
9:114095277:G:C	F312L	0.996
9:114095277:G:T	F312L	0.996
9:114095279:A:G	F312L	0.996

dbSNP variants (sampled 300 via entrez): RS1000414319 (9:114095642 G>A), RS1000615225 (9:114100907 GA>G,GAA), RS1000765221 (9:114100276 C>G), RS1001133802 (9:114101144 C>G), RS1001201336 (9:114095244 G>A), RS1002383472 (9:114098079 C>A,T), RS1002533264 (9:114099827 T>C), RS1002845856 (9:114098311 G>A), RS1003259376 (9:114092708 G>A,C), RS1003799502 (9:114098123 G>A), RS1004194287 (9:114098457 G>A,C), RS1004424893 (9:114096509 T>C), RS1004513699 (9:114100392 C>T), RS1004774397 (9:114093970 T>G), RS1005181865 (9:114097066 G>A)

Disease associations

OMIM: gene MIM:611278 | disease phenotypes: MIM:619662

GenCC curated gene-disease

Disease	Classification	Inheritance
cholestasis, progressive familial intrahepatic, 8	Strong	Autosomal recessive

Mondo (2): cholestasis, progressive familial intrahepatic, 8 (MONDO:0030505), prostate cancer (MONDO:0008315)

Orphanet (1): Familial prostate cancer (Orphanet:1331)

HPO phenotypes

24 total (24 of 24 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000952	Jaundice
HP:0000989	Pruritus
HP:0001394	Cirrhosis
HP:0001395	Hepatic fibrosis
HP:0001396	Cholestasis
HP:0001408	Bile duct proliferation
HP:0001409	Portal hypertension
HP:0002040	Esophageal varix
HP:0002240	Hepatomegaly
HP:0002908	Conjugated hyperbilirubinemia
HP:0003124	Hypercholesterolemia
HP:0003155	Elevated circulating alkaline phosphatase concentration
HP:0003593	Infantile onset
HP:0003621	Juvenile onset
HP:0003623	Neonatal onset
HP:0006254	Elevated circulating alpha-fetoprotein concentration
HP:0011463	Childhood onset
HP:0012202	Increased serum bile acid concentration
HP:0012852	Hepatic bridging fibrosis
HP:0030948	Elevated gamma-glutamyltransferase level
HP:0030991	Sclerosing cholangitis
HP:0031956	Elevated circulating aspartate aminotransferase concentration
HP:0031964	Elevated circulating alanine aminotransferase concentration

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001635_1	Tourette syndrome	3.000000e-08

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation, increases mutagenesis	2
aristolochic acid I	decreases expression	1
beta-lapachone	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
abrine	decreases expression	1
jinfukang	increases expression	1
(+)-JQ1 compound	decreases expression	1
MT19c compound	decreases expression	1
Docetaxel	decreases response to substance	1
Diazinon	decreases methylation	1
Diethylhexyl Phthalate	decreases expression	1
Estradiol	affects cotreatment, increases expression	1
Silicon Dioxide	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	decreases expression	1
Aflatoxin B1	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	PHASE4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	PHASE4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	PHASE4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	PHASE4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	PHASE4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	PHASE4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	PHASE4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	PHASE4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	PHASE4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	PHASE4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	PHASE4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635	PHASE4	COMPLETED	Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer