KIF16B

Summary

KIF16B (kinesin family member 16B, HGNC:15869) is a protein-coding gene on chromosome 20p12.1, encoding Kinesin-like protein KIF16B (Q96L93). Plus end-directed microtubule-dependent motor protein involved in endosome transport and receptor recycling and degradation.

The protein encoded by this gene is a kinesin-like protein that may be involved in intracellular trafficking. Three transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 55614 — RefSeq curated summary.

At a glance

• GWAS associations: 26
• Clinical variants (ClinVar): 278 total
• Phenotypes (HPO): 1
• MANE Select transcript: NM_024704

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15869
Approved symbol	KIF16B
Name	kinesin family member 16B
Location	20p12.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20135, dJ971B4.1, SNX23
Ensembl gene	ENSG00000089177
Ensembl biotype	protein_coding
OMIM	618171
Entrez	55614

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 11 protein_coding

ENST00000354981, ENST00000408042, ENST00000450176, ENST00000635823, ENST00000636835, ENST00000896562, ENST00000896563, ENST00000917258, ENST00000958086, ENST00000958087, ENST00000958088

RefSeq mRNA: 4 — MANE Select: NM_024704 NM_001199865, NM_001199866, NM_001410853, NM_024704

CCDS: CCDS13122, CCDS56178, CCDS82598, CCDS93009

Canonical transcript exons

ENST00000354981 — 26 exons

Exon	Start	End
ENSE00000659811	16356330	16356452
ENSE00000859156	16312335	16312418
ENSE00000859157	16335926	16336015
ENSE00001714600	16371665	16371761
ENSE00001752698	16370586	16370636
ENSE00001757983	16374257	16374409
ENSE00001926747	16272104	16273411
ENSE00003472891	16404813	16404901
ENSE00003490453	16504372	16504547
ENSE00003505707	16427104	16427241
ENSE00003512980	16512826	16512923
ENSE00003553033	16511418	16511527
ENSE00003559931	16381694	16381747
ENSE00003573697	16494291	16494350
ENSE00003597728	16429863	16429982
ENSE00003602235	16515548	16515664
ENSE00003605432	16507958	16508100
ENSE00003625973	16506022	16506190
ENSE00003631953	16428953	16429004
ENSE00003645403	16528371	16528440
ENSE00003664357	16378805	16380163
ENSE00003666813	16526092	16526205
ENSE00003678847	16497613	16497678
ENSE00003682409	16505722	16505853
ENSE00003692630	16406374	16406456
ENSE00003901059	16573229	16573448

Expression profiles

Bgee: expression breadth ubiquitous, 261 present calls, max score 96.88.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.2842 / max 123.5016, expressed in 1616 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
186498	5.5186	1513
186497	1.6643	835
186500	1.4447	626
186499	0.6566	340

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	96.88	gold quality
jejunal mucosa	UBERON:0000399	92.58	gold quality
colonic mucosa	UBERON:0000317	91.25	gold quality
mucosa of sigmoid colon	UBERON:0004993	91.21	gold quality
calcaneal tendon	UBERON:0003701	90.55	gold quality
mucosa of transverse colon	UBERON:0004991	89.57	gold quality
rectum	UBERON:0001052	87.70	gold quality
left adrenal gland	UBERON:0001234	87.04	gold quality
left adrenal gland cortex	UBERON:0035825	86.71	gold quality
adrenal gland	UBERON:0002369	86.66	gold quality
transverse colon	UBERON:0001157	86.61	gold quality
right adrenal gland cortex	UBERON:0035827	86.50	gold quality
adrenal cortex	UBERON:0001235	85.99	gold quality
right adrenal gland	UBERON:0001233	85.80	gold quality
gastrocnemius	UBERON:0001388	85.60	gold quality
duodenum	UBERON:0002114	85.31	gold quality
muscle of leg	UBERON:0001383	85.29	gold quality
large intestine	UBERON:0000059	84.26	gold quality
colon	UBERON:0001155	84.16	gold quality
intestine	UBERON:0000160	84.15	gold quality
small intestine Peyer’s patch	UBERON:0003454	83.99	gold quality
tibia	UBERON:0000979	83.98	gold quality
small intestine	UBERON:0002108	83.97	gold quality
hindlimb stylopod muscle	UBERON:0004252	83.34	gold quality
colonic epithelium	UBERON:0000397	82.64	gold quality
stromal cell of endometrium	CL:0002255	82.59	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.52	gold quality
decidua	UBERON:0002450	82.45	gold quality
biceps brachii	UBERON:0001507	82.38	gold quality
gingival epithelium	UBERON:0001949	82.26	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.04

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 7)

• KIF16B, a kinesin-3, transports early endosomes to the plus end of microtubules in a process regulated by the small GTPase Rab5 and its effector. (PMID:15882625)
• The tubule formations were dependent on microtubule interactions, and specifically controlled by Kif16b and dynein 1. (PMID:22357949)
• genome-wide significance in genes involved in synaptic signaling (KIF16B; p = 1.27E-08) and neurodevelopment (PAX5; p = 3.58E-08). (PMID:22449649)
• The kinesin KIF16B mediates apical transcytosis of transferrin receptor in AP-1B-deficient epithelia. (PMID:23749212)
• KIF16B mutation is associated with autosomal-recessive intellectual disability syndrome. (PMID:29736960)
• Novel genetic variants in KIF16B and NEDD4L in the endosome-related genes are associated with nonsmall cell lung cancer survival. (PMID:31618441)
• KIF16B drives MT1-MMP recycling in macrophages and promotes co-invasion of cancer cells. (PMID:37696580)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	kif16bb	ENSDARG00000080018
danio_rerio	stard9	ENSDARG00000091548
danio_rerio	kif16ba	ENSDARG00000100225

Paralogs (41): KIF1B (ENSG00000054523), KIF26A (ENSG00000066735), KIF2A (ENSG00000068796), KIF22 (ENSG00000079616), KIF3C (ENSG00000084731), KIF9 (ENSG00000088727), KIF4A (ENSG00000090889), KIF3B (ENSG00000101350), KIF20A (ENSG00000112984), KIF21B (ENSG00000116852), KIF17 (ENSG00000117245), KIF14 (ENSG00000118193), KIF18A (ENSG00000121621), KIF25 (ENSG00000125337), KIF1C (ENSG00000129250), KIF1A (ENSG00000130294), KIF3A (ENSG00000131437), KIF12 (ENSG00000136883), 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 KIF16B — Q96L93 (reviewed: Q96L93)

Alternative names: Sorting nexin-23

All UniProt accessions (5): Q96L93, A0A140VK74, A0A1B0GTU3, A0A1B0GVS8, H0Y534

UniProt curated annotations — full annotation on UniProt →

Function. Plus end-directed microtubule-dependent motor protein involved in endosome transport and receptor recycling and degradation. Regulates the plus end motility of early endosomes and the balance between recycling and degradation of receptors such as EGF receptor (EGFR) and FGF receptor (FGFR). Regulates the Golgi to endosome transport of FGFR-containing vesicles during early development, a key process for developing basement membrane and epiblast and primitive endoderm lineages during early postimplantation development.

Subunit / interactions. Interacts with RAB14. Interacts with PTPN21.

Subcellular location. Cytoplasm. Cytoskeleton. Early endosome membrane. Spindle.

Tissue specificity. Primarily expressed in brain. Also present in kidney, liver, intestine, placenta, leukocytes, heart and skeletal muscle (at protein level).

Domain organisation. The PX domain mediates binding to phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2), phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) and phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3). Does not bind phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2).

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

Isoforms (5)

UniProt ID	Names	Canonical?
Q96L93-1	1	yes
Q96L93-2	2
Q96L93-4	3
Q96L93-5	4
Q96L93-6	5

RefSeq proteins (4): NP_001186794, NP_001186795, NP_001397782, NP_078980* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000253	FHA_dom	Domain
IPR001683	PX_dom	Domain
IPR001752	Kinesin_motor_dom	Domain
IPR008984	SMAD_FHA_dom_sf	Homologous_superfamily
IPR019821	Kinesin_motor_CS	Conserved_site
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036871	PX_dom_sf	Homologous_superfamily
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily

Pfam: PF00225, PF00498, PF00787

Enzyme classification (BRENDA):

• EC 5.6.1.3 — plus-end-directed kinesin ATPase (BRENDA: 34 organisms, 94 substrates, 257 inhibitors, 53 Km, 52 kcat entries)

Substrate kinetics (BRENDA)

5 substrates with measured Km, best-characterized 5. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ATP	—	45
ALEXA FLUOR 647 ATP	0.032	1
METHYLANTHRANILOYL-ATP	0.0004	1
ADP	—	0
PHOSPHATE	—	0

UniProt features (50 total): mutagenesis site 9, sequence conflict 8, sequence variant 6, helix 6, modified residue 4, splice variant 4, domain 3, strand 3, coiled-coil region 3, chain 1, region of interest 1, compositionally biased region 1, binding site 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
2V14	X-RAY DIFFRACTION	2.2
6EE0	X-RAY DIFFRACTION	2.52

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96L93-F1	76.27	0.25

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): 102–109

Post-translational modifications (4): 398, 577, 582, 1052

Mutagenesis-validated functional residues (9):

Position	Phenotype
109	impairs plus end-directed microtubule-dependent motor activity, leading to impair egfr recycling.
1220	abolishes ptdins(3)p-binding.
1225	induces a 3-fold decrease in ptdins(3)p-binding; when associated with a-1229 and a-1232.
1229	induces a 3-fold decrease in ptdins(3)p-binding; when associated with a-1225 and a-1232.
1232	induces a 3-fold decrease in ptdins(3)p-binding; when associated with a-1225 and a-1229.
1248	induces a 7-fold decrease in ptdins(3)p-binding and abolishes endosome localization. induces a 25-fold decrease in ptdin
1248	induces a 6-fold decrease in ptdins(3)p-binding.
1249	induces a 5-fold decrease in ptdins(3)p-binding and abolishes endosome localization. induces a 25-fold decrease in ptdin
1260	induces a 30-fold decrease in ptdins(3)p-binding.

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-6811434	COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-983189	Kinesins
R-HSA-109582	Hemostasis
R-HSA-199991	Membrane Trafficking
R-HSA-5653656	Vesicle-mediated transport
R-HSA-6811442	Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-8856688	Golgi-to-ER retrograde transport
R-HSA-983231	Factors involved in megakaryocyte development and platelet production

MSigDB gene sets: 206 (showing top): RNGTGGGC_UNKNOWN, GOBP_VESICLE_LOCALIZATION, GOBP_FORMATION_OF_PRIMARY_GERM_LAYER, GOCC_KINESIN_COMPLEX, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_ORGANELLE_TRANSPORT_ALONG_MICROTUBULE, GTGCCTT_MIR506, GOBP_VESICLE_CYTOSKELETAL_TRAFFICKING, KOYAMA_SEMA3B_TARGETS_UP, GOBP_ERBB_SIGNALING_PATHWAY, GOBP_RESPONSE_TO_FIBROBLAST_GROWTH_FACTOR, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, GOBP_GASTRULATION

GO Biological Process (12): formation of primary germ layer (GO:0001704), regulation of receptor recycling (GO:0001919), Golgi to endosome transport (GO:0006895), epidermal growth factor receptor signaling pathway (GO:0007173), endoderm development (GO:0007492), fibroblast growth factor receptor signaling pathway (GO:0008543), receptor catabolic process (GO:0032801), early endosome to late endosome transport (GO:0045022), vesicle transport along microtubule (GO:0047496), microtubule-based movement (GO:0007018), cell surface receptor protein tyrosine kinase signaling pathway (GO:0007169), vesicle-mediated transport (GO:0016192)

GO Molecular Function (14): ATP binding (GO:0005524), phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547), microtubule binding (GO:0008017), plus-end-directed microtubule motor activity (GO:0008574), ATP hydrolysis activity (GO:0016887), phosphatidylinositol-3-phosphate binding (GO:0032266), phosphatidylinositol-3,4-bisphosphate binding (GO:0043325), phosphatidylinositol-3,5-bisphosphate binding (GO:0080025), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), microtubule motor activity (GO:0003777), protein binding (GO:0005515), lipid binding (GO:0008289), phosphatidylinositol binding (GO:0035091)

GO Cellular Component (11): cytoplasm (GO:0005737), endosome (GO:0005768), early endosome (GO:0005769), spindle (GO:0005819), cytosol (GO:0005829), kinesin complex (GO:0005871), microtubule (GO:0005874), early endosome membrane (GO:0031901), cytoskeleton (GO:0005856), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Golgi-to-ER retrograde transport	1
Factors involved in megakaryocyte development and platelet production	1
Vesicle-mediated transport	1
Membrane Trafficking	1
Intra-Golgi and retrograde Golgi-to-ER traffic	1
Hemostasis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	3
phosphatidylinositol phosphate binding	3
cellular anatomical structure	3
anion binding	2
ATP-dependent activity	2
phosphatidylinositol bisphosphate binding	2
binding	2
microtubule cytoskeleton	2
intracellular membraneless organelle	2
gastrulation	1
anatomical structure formation involved in morphogenesis	1
receptor recycling	1
regulation of signaling	1
regulation of macromolecule metabolic process	1
post-Golgi vesicle-mediated transport	1
intercellular transport	1
cytosolic transport	1
ERBB signaling pathway	1
tissue development	1
cell surface receptor protein tyrosine kinase signaling pathway	1
cellular response to fibroblast growth factor stimulus	1
macromolecule catabolic process	1
receptor metabolic process	1
vesicle-mediated transport between endosomal compartments	1
organelle transport along microtubule	1
vesicle cytoskeletal trafficking	1
microtubule-based process	1
enzyme-linked receptor protein signaling pathway	1
transport	1
cellular process	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
tubulin binding	1
microtubule motor activity	1
ribonucleoside triphosphate phosphatase activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1

Protein interactions and networks

STRING

870 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KIF16B	RAB14	P35287	841
KIF16B	RAB6A	P20340	584
KIF16B	EEA1	Q15075	494
KIF16B	SNX24	Q9Y343	489
KIF16B	PIK3C3	Q8NEB9	486
KIF16B	AGFG2	O95081	476
KIF16B	SNX12	Q9UMY4	475
KIF16B	RAB5A	P20339	450
KIF16B	SNX15	Q9NRS6	449
KIF16B	SNX11	Q9Y5W9	448
KIF16B	FREM1	Q5H8C1	436
KIF16B	SNX22	Q96L94	432
KIF16B	SNX7	Q9UNH6	431
KIF16B	BTBD3	Q9Y2F9	431
KIF16B	EPHB1	P54762	427

IntAct

24 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
ARRDC4	WWP2	psi-mi:“MI:0914”(association)	0.530
KIFBP	KIF3C	psi-mi:“MI:0914”(association)	0.530
BAG2	HGS	psi-mi:“MI:0914”(association)	0.530
ALOX5	DDHD2	psi-mi:“MI:0914”(association)	0.530
TXNIP	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
S100A2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
S100P	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
PRKY	METTL15	psi-mi:“MI:0914”(association)	0.350
HNRNPCL2	SMCHD1	psi-mi:“MI:0914”(association)	0.350
CCT8L2	DVL2	psi-mi:“MI:0914”(association)	0.350
KIF16B	HSPA8	psi-mi:“MI:0914”(association)	0.350
KIF16B	PTPRN	psi-mi:“MI:0914”(association)	0.350
TGOLN2	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270
WDR45B	DCLK1	psi-mi:“MI:2364”(proximity)	0.270
KIF16B	EEA1	psi-mi:“MI:0403”(colocalization)	0.270
addB	KIF16B	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (101): KIF16B (Affinity Capture-MS), KIF16B (Affinity Capture-MS), KIF16B (Affinity Capture-MS), KIF16B (Affinity Capture-MS), KIF16B (Affinity Capture-MS), KIF16B (Affinity Capture-MS), MON1B (Affinity Capture-MS), KIF16B (Affinity Capture-MS), KIF16B (Affinity Capture-MS), CCZ1 (Affinity Capture-MS), SPAG9 (Affinity Capture-MS), CARM1 (Affinity Capture-MS), PRKAA1 (Two-hybrid), KIF16B (Proximity Label-MS), KIF16B (Proximity Label-MS)

ESM2 similar proteins: A0JN40, A8BB91, A8BKD1, B1AVY7, B9F2Y7, F1M4A4, F1M5N7, F1QN54, F4K0J3, G5EGS3, O14782, O15066, O35066, O55165, O60333, O75037, O88658, P28741, P33173, P33176, P34540, P35978, P46867, P46871, P46872, P46873, Q10E64, Q12756, Q29DY1, Q2PQA9, Q4R628, Q5JKW1, Q5R4H3, Q5R706, Q60575, Q61768, Q61771, Q6YUL8, Q7Z4S6, Q86Z98

Diamond homologs: A0A068FIK2, A0JN40, A1ZAJ2, A8BB91, A8BKD1, B1AVY7, B7EJ91, B7ZNG0, B9F2Y7, B9GE13, F1M4A4, F1M5N7, F1QN54, F4IIS5, F4J1U4, F4K0J3, G5EGS3, O14343, O14782, O15066, O23826, O35066, O35071, O35787, O43896, O45935, O55165, O60282, O60333, O75037, O88658, O95239, P17210, P21613, P23678, P28738, P28741, P33173, P33174, P33175

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
KIF16B	up-regulates	“Plus-end directed sliding movement”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 29 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Clathrin-mediated endocytosis	5	23.7×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	223
Likely benign	16
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

5706 predictions. Top by Δscore:

Variant	Effect	Δscore
20:16335921:CTTA:C	donor_loss	1.0000
20:16335922:TTAC:T	donor_loss	1.0000
20:16335923:TAC:T	donor_loss	1.0000
20:16335924:ACCTC:A	donor_loss	1.0000
20:16336011:GTAAT:G	acceptor_gain	1.0000
20:16336012:TAAT:T	acceptor_gain	1.0000
20:16336024:C:CT	acceptor_gain	1.0000
20:16336025:A:T	acceptor_gain	1.0000
20:16356464:A:C	acceptor_gain	1.0000
20:16356468:C:CT	acceptor_gain	1.0000
20:16370584:A:AT	donor_loss	1.0000
20:16370585:CC:C	donor_loss	1.0000
20:16370632:TTATC:T	acceptor_gain	1.0000
20:16370633:TATC:T	acceptor_gain	1.0000
20:16370635:TC:T	acceptor_gain	1.0000
20:16370635:TCC:T	acceptor_loss	1.0000
20:16370636:CC:C	acceptor_gain	1.0000
20:16370637:C:CC	acceptor_gain	1.0000
20:16370638:T:A	acceptor_loss	1.0000
20:16371660:CTTA:C	donor_loss	1.0000
20:16371661:TTACC:T	donor_loss	1.0000
20:16371662:TA:T	donor_loss	1.0000
20:16371663:A:AC	donor_gain	1.0000
20:16371664:C:CC	donor_gain	1.0000
20:16371664:C:CT	donor_loss	1.0000
20:16371664:CCTT:C	donor_gain	1.0000
20:16371757:TGATC:T	acceptor_gain	1.0000
20:16371758:GATC:G	acceptor_gain	1.0000
20:16371759:ATC:A	acceptor_gain	1.0000
20:16371760:TC:T	acceptor_gain	1.0000

AlphaMissense

8735 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:16406417:A:G	F551S	1.000
20:16406423:A:G	F549S	1.000
20:16428988:A:T	V480D	1.000
20:16429867:A:G	L473S	1.000
20:16429874:A:C	Y471D	1.000
20:16429876:A:G	L470S	1.000
20:16429918:A:G	L456S	1.000
20:16429922:G:C	H455D	1.000
20:16429939:A:G	L449S	1.000
20:16429966:A:G	L440P	1.000
20:16429966:A:T	L440H	1.000
20:16429972:A:G	L438P	1.000
20:16494317:A:G	W426R	1.000
20:16494317:A:T	W426R	1.000
20:16494327:C:A	W422C	1.000
20:16494327:C:G	W422C	1.000
20:16494329:A:G	W422R	1.000
20:16494329:A:T	W422R	1.000
20:16504400:A:G	L383P	1.000
20:16504421:A:G	L376P	1.000
20:16504484:G:T	A355D	1.000
20:16504493:G:T	A352E	1.000
20:16504494:C:G	A352P	1.000
20:16504496:T:C	Y351C	1.000
20:16504497:A:G	Y351H	1.000
20:16504499:C:G	R350P	1.000
20:16504502:A:G	L349P	1.000
20:16504507:A:C	S347R	1.000
20:16504507:A:T	S347R	1.000
20:16504509:T:G	S347R	1.000

dbSNP variants (sampled 300 via entrez): RS1000005681 (20:16440548 C>A,G), RS1000019370 (20:16434929 G>C,T), RS1000035222 (20:16393776 T>G), RS1000036988 (20:16479991 G>A), RS1000069445 (20:16503560 A>G), RS1000071042 (20:16307416 G>A), RS1000071814 (20:16366509 G>GC), RS1000114136 (20:16447167 G>T), RS1000151505 (20:16522108 A>T), RS1000163169 (20:16280397 C>G,T), RS1000171237 (20:16403925 G>C), RS1000187007 (20:16527356 T>C), RS1000215984 (20:16574552 G>A,C,T), RS1000218237 (20:16527577 T>C), RS1000221942 (20:16314344 C>T)

Disease associations

OMIM: gene MIM:618171 | disease phenotypes: MIM:209850

GenCC curated gene-disease

Mondo (3): muscular atrophy (MONDO:0004323), prostate cancer (MONDO:0008315), autism (MONDO:0005260)

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

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000717	Autism

GWAS associations

26 associations (top):

Study	Trait	p-value
GCST000908_4	Ileal carcinoids	4.000000e-07
GCST001428_14	Intelligence	1.000000e-08
GCST001692_16	Response to taxane treatment (docetaxel)	7.000000e-07
GCST002945_13	Emphysema imaging phenotypes	1.000000e-06
GCST003264_494	Post bronchodilator FEV1/FVC ratio	3.000000e-06
GCST003831_24	Asthma	1.000000e-06
GCST005757_8	Dimensional psychopathology (Positive)	3.000000e-06
GCST005951_23	Body mass index	5.000000e-08
GCST007324_160	Adventurousness	4.000000e-12
GCST007576_271	Chronotype	2.000000e-11
GCST007576_438	Chronotype	1.000000e-10
GCST008466_9	Alanine aminotransferase levels in non-alcoholic fatty liver disease	8.000000e-06
GCST008959_12	Lipid traits	7.000000e-09
GCST008959_14	Lipid traits	3.000000e-07
GCST009391_303	Metabolite levels	4.000000e-06
GCST010572_10	Sweet taste preference	5.000000e-06
GCST010817_6	Gut microbiota alpha diversity (Shannon index)	2.000000e-06
GCST010818_22	Gut microbiota alpha diversity (PD_whole_tree index)	8.000000e-06
GCST010819_16	Gut microbiota alpha diversity (Chao1 index)	3.000000e-06
GCST010988_317	Adult body size	5.000000e-09
GCST011741_46	LDL cholesterol levels in HIV infection	2.000000e-06
GCST011743_29	HDL cholesterol levels in HIV infection	4.000000e-06
GCST012335_20	Hodgkin’s lymphoma	5.000000e-11
GCST90002400_117	Plateletcrit	5.000000e-11
GCST90002401_312	Platelet distribution width	6.000000e-13
GCST90007000_7	Gut microbiota relative abundance (unclassified genus belonging to family Ruminococcaceae)	2.000000e-06

EFO canonical traits (15, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence
EFO:0007626	emphysema imaging measurement
EFO:0004713	FEV/FVC ratio
EFO:0009097	positive domain measurement
EFO:0004340	body mass index
EFO:0008579	risk-taking behaviour
EFO:0008328	chronotype measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004574	total cholesterol measurement
EFO:0010429	triacylglycerol 56:2 measurement
EFO:0010156	sweet liking measurement
EFO:0007874	gut microbiome measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0007985	platelet crit
EFO:0007984	platelet component distribution width

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D001321	Autistic Disorder	F03.625.164.113.500
D009133	Muscular Atrophy	C10.597.613.612; C23.300.070.500; C23.888.592.608.612
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

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation, affects expression	7
Valproic Acid	affects cotreatment, increases expression, affects expression	6
Aflatoxin B1	decreases expression	3
Quercetin	decreases expression, decreases phosphorylation	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
trichostatin A	increases expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	decreases expression	1
manganese chloride	decreases expression, increases abundance	1
potassium chromate(VI)	decreases expression, affects cotreatment	1
nickel sulfate	decreases expression	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
2-palmitoylglycerol	increases expression	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Acetaminophen	decreases expression	1
Amiodarone	increases expression	1
Caffeine	affects phosphorylation	1
Doxorubicin	decreases expression	1
Manganese	decreases expression, increases abundance	1
Vitamin E	decreases expression	1
Cyclosporine	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00018356	PHASE4	COMPLETED	Physiologic Effects of PRMS & Testosterone in the Debilitated Elderly
NCT02568020	PHASE4	UNKNOWN	LPD+α-ketoacids on Autophagy and Improving Muscle Wasting in CKD
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