KIFAP3

Summary

KIFAP3 (kinesin associated protein 3, HGNC:17060) is a protein-coding gene on chromosome 1q24.2, encoding Kinesin-associated protein 3 (Q92845). Involved in tethering the chromosomes to the spindle pole and in chromosome movement.

The small G protein GDP dissociation stimulator (smg GDS) is a regulator protein having two activities on a group of small G proteins including the Rho and Rap1 family members and Ki-Ras; one is to stimulate their GDP/GTP exchange reactions, and the other is to inhibit their interactions with membranes. The protein encoded by this gene contains 9 ‘Armadillo’ repeats and interacts with the smg GDS protein through these repeats. This protein, which is highly concentrated around the endoplasmic reticulum, is phosphorylated by v-src, and this phosphorylation reduces the affinity of the protein for smg GDS. It is thought that this protein serves as a linker between human chromosome-associated polypeptide (HCAP) and KIF3A/B, a kinesin superfamily protein in the nucleus, and that it plays a role in the interaction of chromosomes with an ATPase motor protein. Several transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 22920 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 97 total
• MANE Select transcript: NM_014970

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17060
Approved symbol	KIFAP3
Name	kinesin associated protein 3
Location	1q24.2
Locus type	gene with protein product
Status	Approved
Aliases	SMAP, KAP3, FLA3, KAP-1
Ensembl gene	ENSG00000075945
Ensembl biotype	protein_coding
OMIM	601836
Entrez	22920

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000361580, ENST00000367765, ENST00000367767, ENST00000474292, ENST00000490550, ENST00000538366

RefSeq mRNA: 6 — MANE Select: NM_014970 NM_001204514, NM_001204516, NM_001204517, NM_001375830, NM_001375831, NM_014970

CCDS: CCDS1288, CCDS55659, CCDS55660, CCDS55661

Canonical transcript exons

ENST00000361580 — 20 exons

Exon	Start	End
ENSE00000789677	169954011	169954110
ENSE00000789678	169961046	169961235
ENSE00000789679	169972513	169972598
ENSE00000789680	169978085	169978183
ENSE00000789681	169981972	169982097
ENSE00000789682	169982702	169982867
ENSE00000789683	169983270	169983382
ENSE00000789684	169984582	169984690
ENSE00000814440	169992155	169992255
ENSE00000814520	170016462	170016624
ENSE00000921921	170035454	170035553
ENSE00001435258	170031886	170031984
ENSE00001435367	170034372	170034496
ENSE00003477203	170039233	170039288
ENSE00003503324	170074436	170074695
ENSE00003535548	170038290	170038431
ENSE00003548356	170046712	170046866
ENSE00003555330	170055305	170055436
ENSE00003646782	170024418	170024596
ENSE00003845418	169921329	169921781

Expression profiles

Bgee: expression breadth ubiquitous, 285 present calls, max score 98.76.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.7106 / max 617.2054, expressed in 1789 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
15876	23.7047	1778
15874	5.0141	1323
15875	0.7656	386
201810	0.1225	44
15877	0.0973	23
15878	0.0064	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	98.76	gold quality
pons	UBERON:0000988	97.64	gold quality
orbitofrontal cortex	UBERON:0004167	97.29	gold quality
lateral nuclear group of thalamus	UBERON:0002736	97.04	gold quality
Brodmann (1909) area 46	UBERON:0006483	97.02	gold quality
frontal pole	UBERON:0002795	96.83	gold quality
postcentral gyrus	UBERON:0002581	96.81	gold quality
prefrontal cortex	UBERON:0000451	96.57	gold quality
sperm	CL:0000019	96.33	gold quality
ganglionic eminence	UBERON:0004023	96.33	gold quality
parietal lobe	UBERON:0001872	96.17	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	96.14	gold quality
frontal cortex	UBERON:0001870	95.98	gold quality
dorsal root ganglion	UBERON:0000044	95.96	gold quality
superior frontal gyrus	UBERON:0002661	95.86	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.82	gold quality
substantia nigra pars compacta	UBERON:0001965	95.76	gold quality
Brodmann (1909) area 10	UBERON:0013541	95.70	gold quality
male germ cell	CL:0000015	95.60	gold quality
neocortex	UBERON:0001950	95.55	gold quality
superior vestibular nucleus	UBERON:0007227	95.28	gold quality
cerebral cortex	UBERON:0000956	95.24	gold quality
right frontal lobe	UBERON:0002810	95.21	gold quality
hypothalamus	UBERON:0001898	95.03	gold quality
heart right ventricle	UBERON:0002080	95.01	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	94.89	gold quality
cingulate cortex	UBERON:0003027	94.74	gold quality
cardiac muscle of right atrium	UBERON:0003379	94.67	gold quality
anterior cingulate cortex	UBERON:0009835	94.66	gold quality
substantia nigra pars reticulata	UBERON:0001966	94.56	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-5	yes	42.83
E-ANND-3	yes	7.86

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting KIFAP3, 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-1184	99.99	68.19	1458
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-466	99.67	70.85	2863
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-586	99.65	70.40	2051
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-325	99.58	66.55	358
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-4643	99.49	67.63	1791
HSA-MIR-4717-3P	99.06	66.34	1072
HSA-MIR-374C-3P	98.47	67.93	451
HSA-MIR-7114-3P	98.42	66.53	569
HSA-MIR-1180-5P	98.16	65.32	460
HSA-MIR-4474-3P	96.97	65.87	870

Literature-anchored findings (GeneRIF, showing 15)

• Required for the normal steady-state localization of late endosomes/lysosomes but not early endosomes or recycling endosomes. (PMID:16262723)
• Interaction of KIF3A/3B with KAP3 may be important for the proper progression of mitosis. (PMID:16298999)
• Kinesin-2 plays a role in the KDEL-R-/COPI-dependent retrograde transport pathway from the Golgi complex to the ER. (PMID:17113389)
• KAP3 sequestration by misfolded SOD1 and the inhibition of ChAT transport play a role in the dysfunction of amyotrophic lateral sclerosis. (PMID:19088126)
• a variant within the KIFAP3 gene that is associated with decreased KIFAP3 expression and increased survival in sporadic ALS was identified. (PMID:19451621)
• Data clearly show that SNP rs1541160 does not modify survival within cohort of 504 Italian ALS cases. (PMID:20566859)
• The incidence of the motor neuron-predominant amyotrophic lateral sclerosis phenotype in the patients of this cohort supports the hypothesis that the SNP within the KIFAP3 gene is a potential modifier of the amyotrophic lateral sclerosis phenotype (PMID:21659726)
• Common genetic variation in the Kinesin-Associated Protein 3 (KIFAP3) gene (rs1541160) was reported to have a significant effect on survival in amyotrophic lateral sclerosis patients. (PMID:24838185)
• These data suggest that GLI interactions with KIF3A-KIF3B-KAP3 complexes are essential for proper GLI transcriptional activity. (PMID:25588831)
• This study does not show an influence of KIFAP3 variants on survival in the studied Swiss and Swedish cohort (PMID:28140676)
• Analysis of KAP1 expression patterns and human endogenous retrovirus Env proteins in ovarian cancer. (PMID:32785870)
• Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma. (PMID:34674729)
• Loss of KAP3 decreases intercellular adhesion and impairs intracellular transport of laminin in signet ring cell carcinoma of the stomach. (PMID:35322078)
• Novel regulatory roles of small G protein GDP dissociation stimulator (smgGDS) in insulin secretion from pancreatic beta-cells. (PMID:38013223)
• LncRNA KIFAP3-5:1 inhibits epithelial-mesenchymal transition of renal tubular cell through PRRX1 in diabetic nephropathy. (PMID:38869718)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	kifap3b	ENSDARG00000006862
danio_rerio	kifap3a	ENSDARG00000008639
mus_musculus	Kifap3	ENSMUSG00000026585
rattus_norvegicus	Kifap3	ENSRNOG00000002544
drosophila_melanogaster	Kap3	FBGN0028421
caenorhabditis_elegans		WBGENE00002182

Protein

Protein identifiers

Kinesin-associated protein 3 — Q92845 (reviewed: Q92845)

Alternative names: Smg GDS-associated protein

All UniProt accessions (2): Q92845, A0AAQ5BGI3

UniProt curated annotations — full annotation on UniProt →

Function. Involved in tethering the chromosomes to the spindle pole and in chromosome movement. Binds to the tail domain of the KIF3A/KIF3B heterodimer to form a heterotrimeric KIF3 complex and may regulate the membrane binding of this complex.

Subunit / interactions. Heterotrimer of KIFAP3, KIF3A and KIF3B. Interacts with RAP1GDS1/SMG GDS. Interacts with SMC3 subunit of the cohesin complex.

Post-translational modifications. Phosphorylated on tyrosine residues by SRC in vitro; this reduces the binding affinity of the protein for RAP1GDS1.

Isoforms (4)

UniProt ID	Names	Canonical?
Q92845-1	1	yes
Q92845-2	2
Q92845-3	3
Q92845-4	4

RefSeq proteins (6): NP_001191443, NP_001191445, NP_001191446, NP_001362759, NP_001362760, NP_055785* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000225	Armadillo	Repeat
IPR008658	KAP3	Family
IPR011989	ARM-like	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily

Pfam: PF05804

UniProt features (15 total): repeat 5, splice variant 3, sequence conflict 2, chain 1, sequence variant 1, region of interest 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92845-F1	83.66	0.68

Functional residue map

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

Post-translational modifications (1): 60

Function

Pathways and Gene Ontology

Reactome pathways

15 pathways

ID	Pathway
R-HSA-1445148	Translocation of SLC2A4 (GLUT4) to the plasma membrane
R-HSA-2132295	MHC class II antigen presentation
R-HSA-5620924	Intraflagellar transport
R-HSA-6811434	COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-983189	Kinesins
R-HSA-109582	Hemostasis
R-HSA-1280218	Adaptive Immune System
R-HSA-168256	Immune System
R-HSA-1852241	Organelle biogenesis and maintenance
R-HSA-199991	Membrane Trafficking
R-HSA-5617833	Cilium Assembly
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: 267 (showing top): BORCZUK_MALIGNANT_MESOTHELIOMA_UP, TAATAAT_MIR126, GOBP_AXO_DENDRITIC_TRANSPORT, TGCGCANK_UNKNOWN, GOBP_VESICLE_LOCALIZATION, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOCC_KINESIN_COMPLEX, LUCAS_HNF4A_TARGETS_UP, REACTOME_MEMBRANE_TRAFFICKING, GOBP_ORGANELLE_TRANSPORT_ALONG_MICROTUBULE, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_CALCIUM_DEPENDENT_CELL_CELL_ADHESION, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_CELL_CELL_ADHESION, GOBP_VESICLE_CYTOSKELETAL_TRAFFICKING

GO Biological Process (18): microtubule-based process (GO:0007017), microtubule-based movement (GO:0007018), signal transduction (GO:0007165), neuroblast proliferation (GO:0007405), negative regulation of neuroblast proliferation (GO:0007406), intracellular protein localization (GO:0008104), cardiac muscle cell apoptotic process (GO:0010659), negative regulation of cardiac muscle cell apoptotic process (GO:0010667), cilium organization (GO:0044782), positive regulation of calcium-dependent cell-cell adhesion (GO:0046587), protein-containing complex assembly (GO:0065003), thymocyte apoptotic process (GO:0070242), negative regulation of thymocyte apoptotic process (GO:0070244), plus-end-directed vesicle transport along microtubule (GO:0072383), anterograde dendritic transport of neurotransmitter receptor complex (GO:0098971), apoptotic process (GO:0006915), cell population proliferation (GO:0008283), negative regulation of apoptotic process (GO:0043066)

GO Molecular Function (4): kinesin binding (GO:0019894), protein phosphatase binding (GO:0019903), intraciliary transport particle B binding (GO:0120170), protein binding (GO:0005515)

GO Cellular Component (21): condensed nuclear chromosome (GO:0000794), photoreceptor outer segment (GO:0001750), photoreceptor inner segment (GO:0001917), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), centrosome (GO:0005813), cytosol (GO:0005829), cilium (GO:0005929), axoneme (GO:0005930), microtubule cytoskeleton (GO:0015630), kinesin II complex (GO:0016939), photoreceptor connecting cilium (GO:0032391), dendrite cytoplasm (GO:0032839), ciliary transition zone (GO:0035869), ciliary basal body (GO:0036064), ciliary tip (GO:0097542), postsynapse (GO:0098794), glutamatergic synapse (GO:0098978), periciliary membrane compartment (GO:1990075), kinesin complex (GO:0005871), spindle microtubule (GO:0005876)

Reactome top-level categories

Rollup of top-10 pathways:

Category	Pathways
Membrane Trafficking	2
Adaptive Immune System	1
Assembly of the 9+0 primary cilium	1
Golgi-to-ER retrograde transport	1
Factors involved in megakaryocyte development and platelet production	1
Immune System	1
Vesicle-mediated transport	1
Organelle biogenesis and maintenance	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
cellular anatomical structure	7
cellular process	3
cytoplasm	3
cilium	3
photoreceptor cell cilium	2
endomembrane system	2
intracellular membrane-bounded organelle	2
microtubule organizing center	2
cytoskeleton	2
synapse	2
microtubule-based process	1
cell communication	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
generation of neurons	1
neural precursor cell proliferation	1
neuroblast proliferation	1
negative regulation of neurogenesis	1
regulation of neuroblast proliferation	1
negative regulation of neural precursor cell proliferation	1
macromolecule localization	1
striated muscle cell apoptotic process	1
cardiac muscle cell apoptotic process	1
negative regulation of striated muscle cell apoptotic process	1
regulation of cardiac muscle cell apoptotic process	1
organelle organization	1
plasma membrane bounded cell projection organization	1
calcium-dependent cell-cell adhesion	1
positive regulation of cell-cell adhesion	1
regulation of calcium-dependent cell-cell adhesion	1
cellular component assembly	1
protein-containing complex organization	1
T cell apoptotic process	1
negative regulation of T cell apoptotic process	1
thymocyte apoptotic process	1
regulation of thymocyte apoptotic process	1
vesicle transport along microtubule	1
plus-end-directed organelle transport along microtubule	1
receptor localization to synapse	1

Protein interactions and networks

STRING

1372 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KIFAP3	KIF3B	O15066	998
KIFAP3	KIF3A	Q9Y496	998
KIFAP3	KIF3C	O14782	980
KIFAP3	CHAT	P28329	833
KIFAP3	IFT88	Q13099	815
KIFAP3	KLC1	Q07866	710
KIFAP3	UNC13A	Q9UPW8	703
KIFAP3	KIF17	Q9P2E2	698
KIFAP3	ARHGEF4	Q9NR80	697
KIFAP3	IFT52	Q9Y366	688
KIFAP3	IFT57	Q9NWB7	646
KIFAP3	SOD1	P00441	645
KIFAP3	APC	P25054	610
KIFAP3	DCTN1	Q14203	593
KIFAP3	IFT140	Q96RY7	587

IntAct

88 interactions, top by confidence:

A	B	Type	Score
NCF2	KIFAP3	psi-mi:“MI:0915”(physical association)	0.930
KIFAP3	NCF2	psi-mi:“MI:0915”(physical association)	0.930
KIF3A	KIFAP3	psi-mi:“MI:0403”(colocalization)	0.910
KIFAP3	KIF3A	psi-mi:“MI:0915”(physical association)	0.910
KIFAP3	KIF3B	psi-mi:“MI:0914”(association)	0.900
KIF3B	KIFAP3	psi-mi:“MI:0914”(association)	0.900
KIFAP3	KIF3B	psi-mi:“MI:0915”(physical association)	0.900
KIFAP3	NAA10	psi-mi:“MI:0915”(physical association)	0.780
NAA10	KIFAP3	psi-mi:“MI:0915”(physical association)	0.780
KIF3A	KIF3C	psi-mi:“MI:0914”(association)	0.730
KIFAP3	KIF3C	psi-mi:“MI:0914”(association)	0.640

BioGRID (150): KIFAP3 (Two-hybrid), KIFAP3 (Two-hybrid), KIF3A (Co-fractionation), KIFAP3 (Affinity Capture-MS), KIFAP3 (Affinity Capture-Western), KIFAP3 (Proximity Label-MS), NCF2 (Two-hybrid), AIM1 (Affinity Capture-MS), COL4A1 (Affinity Capture-MS), DHX15 (Affinity Capture-MS), GBE1 (Affinity Capture-MS), KPNA2 (Affinity Capture-MS), PSMD5 (Affinity Capture-MS), SON (Affinity Capture-MS), TAF1 (Affinity Capture-MS)

ESM2 similar proteins: A2VE08, A7Y521, E1C6Q1, O15131, O35116, O35142, O35345, O55029, O60684, O70133, O88544, O94973, P17427, P18484, P26233, P35605, P35606, P52294, P52297, P70188, P83953, Q08211, Q0V7M0, Q0VCK5, Q13098, Q28141, Q3SZA0, Q4R5E6, Q503E9, Q56R16, Q5F418, Q5R648, Q5R664, Q5R874, Q5R909, Q5RBV0, Q5ZHN3, Q5ZML1, Q60960, Q68FK8

Diamond homologs: P70188, Q26626, Q92845

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	64
Likely benign	4
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

3329 predictions. Top by Δscore:

Variant	Effect	Δscore
1:169921777:CAAGG:C	acceptor_gain	1.0000
1:169921778:AAGG:A	acceptor_gain	1.0000
1:169921779:AGG:A	acceptor_gain	1.0000
1:169921780:GG:G	acceptor_gain	1.0000
1:169921780:GGC:G	acceptor_loss	1.0000
1:169921781:GCT:G	acceptor_loss	1.0000
1:169921782:C:CC	acceptor_gain	1.0000
1:169921782:CTAA:C	acceptor_loss	1.0000
1:169921783:T:A	acceptor_loss	1.0000
1:169954106:TCCAT:T	acceptor_gain	1.0000
1:169954107:CCAT:C	acceptor_gain	1.0000
1:169954107:CCATC:C	acceptor_gain	1.0000
1:169954108:CAT:C	acceptor_gain	1.0000
1:169954108:CATC:C	acceptor_gain	1.0000
1:169954109:ATCTA:A	acceptor_loss	1.0000
1:169954110:TC:T	acceptor_loss	1.0000
1:169954111:C:CC	acceptor_gain	1.0000
1:169954111:CTA:C	acceptor_loss	1.0000
1:169954112:T:C	acceptor_loss	1.0000
1:169961030:T:A	donor_gain	1.0000
1:169961231:TATTC:T	acceptor_gain	1.0000
1:169961232:ATTC:A	acceptor_gain	1.0000
1:169961233:TTC:T	acceptor_gain	1.0000
1:169961234:TC:T	acceptor_gain	1.0000
1:169961235:CC:C	acceptor_gain	1.0000
1:169961236:C:CC	acceptor_gain	1.0000
1:169961239:T:C	acceptor_gain	1.0000
1:169961239:T:TC	acceptor_gain	1.0000
1:169978083:A:AC	donor_gain	1.0000
1:169978084:C:CC	donor_gain	1.0000

AlphaMissense

5285 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:169961168:A:G	L684P	1.000
1:169961170:C:A	W683C	1.000
1:169961170:C:G	W683C	1.000
1:169961171:C:G	W683S	1.000
1:169961172:A:G	W683R	1.000
1:169961172:A:T	W683R	1.000
1:169961179:G:C	N680K	1.000
1:169961179:G:T	N680K	1.000
1:169961181:T:C	N680D	1.000
1:169961184:G:C	H679D	1.000
1:169961191:A:C	F676L	1.000
1:169961191:A:T	F676L	1.000
1:169961192:A:C	F676C	1.000
1:169961192:A:G	F676S	1.000
1:169961193:A:G	F676L	1.000
1:169961220:A:G	W667R	1.000
1:169961220:A:T	W667R	1.000
1:169972515:C:G	A661P	1.000
1:169972517:A:T	I660K	1.000
1:169972537:A:C	C653W	1.000
1:169972538:C:T	C653Y	1.000
1:169972547:C:G	R650P	1.000
1:169972550:A:C	I649S	1.000
1:169972565:T:A	D644V	1.000
1:169972565:T:G	D644A	1.000
1:169972566:C:G	D644H	1.000
1:169972574:A:G	L641P	1.000
1:169972574:A:T	L641Q	1.000
1:169972577:T:A	D640V	1.000
1:169972577:T:C	D640G	1.000

dbSNP variants (sampled 300 via entrez): RS1000005987 (1:169938001 G>A,C), RS1000006427 (1:170043344 T>C), RS1000027364 (1:170051259 T>C), RS1000051157 (1:170059850 C>A,G,T), RS1000090841 (1:170017884 A>C), RS1000101680 (1:170059509 T>C), RS1000109789 (1:169976823 A>G), RS1000117805 (1:169957615 A>G), RS1000138859 (1:170038560 C>T), RS1000141053 (1:169971347 A>G), RS1000186150 (1:169946836 G>A), RS1000186339 (1:170086624 G>A), RS1000217862 (1:170047833 C>T), RS1000220920 (1:169990431 T>A,C), RS1000273221 (1:169990667 A>G)

Disease associations

OMIM: gene MIM:601836 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST000406_10	Amyotrophic lateral sclerosis	2.000000e-08
GCST004297_1	Atrial fibrillation	2.000000e-11
GCST005956_24	Waist-to-hip ratio adjusted for BMI	5.000000e-07
GCST005962_31	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	3.000000e-07
GCST009028_34	Adverse response to drug	8.000000e-07
GCST010107_14	L-selectin levels	2.000000e-08
GCST010481_6	Acute anterior uveitis in ankylosing spondylitis	6.000000e-07
GCST90020029_1235	Waist circumference adjusted for body mass index	1.000000e-08

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0009658	adverse effect
EFO:0008202	L-Selectin measurement
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	5
trichostatin A	increases expression, affects cotreatment	3
potassium chromate(VI)	affects cotreatment, decreases expression	2
Panobinostat	affects cotreatment, increases expression	2
Cisplatin	affects expression, affects cotreatment, decreases expression	2
Quercetin	decreases expression, increases phosphorylation	2
Tretinoin	decreases expression, increases expression	2
FR900359	decreases phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
beta-lapachone	increases expression	1
nickel sulfate	decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression	1
K 7174	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
jinfukang	affects cotreatment, decreases expression	1
MT19c compound	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Decitabine	affects expression	1
Sunitinib	increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects methylation	1
Benzophenoneidum	increases expression	1
Calcitriol	increases expression	1
Dimethyl Sulfoxide	increases expression	1

Clinical trials (associated diseases)

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