KIF26B

Summary

KIF26B (kinesin family member 26B, HGNC:25484) is a protein-coding gene on chromosome 1q44, encoding Kinesin-like protein KIF26B (Q2KJY2). Essential for embryonic kidney development.

The protein encoded by this gene is an intracellular motor protein thought to transport organelles along microtubules. The encoded protein is required for kidney development. Elevated levels of this protein have been found in some breast and colorectal cancers.

Source: NCBI Gene 55083 — RefSeq curated summary.

At a glance

• Gene–disease (curated): multiple congenital anomalies/dysmorphic syndrome (Limited, GenCC)
• GWAS associations: 18
• Clinical variants (ClinVar): 509 total — 2 pathogenic
• MANE Select transcript: NM_018012

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25484
Approved symbol	KIF26B
Name	kinesin family member 26B
Location	1q44
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10157
Ensembl gene	ENSG00000162849
Ensembl biotype	protein_coding
OMIM	614026
Entrez	55083

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000366518, ENST00000407071, ENST00000479506, ENST00000483253

RefSeq mRNA: 1 — MANE Select: NM_018012 NM_018012

CCDS: CCDS44342

Canonical transcript exons

ENST00000407071 — 15 exons

Exon	Start	End
ENSE00001069192	245698106	245698308
ENSE00001069195	245702458	245709432
ENSE00001069196	245698887	245699037
ENSE00001441902	245685405	245688807
ENSE00001546959	245156282	245156683
ENSE00001559770	245419579	245419745
ENSE00001844239	245154985	245155487
ENSE00002230042	245646121	245646280
ENSE00002244896	245540767	245540950
ENSE00002263245	245602577	245602783
ENSE00002291216	245609266	245609528
ENSE00002312148	245611793	245611976
ENSE00002323574	245607651	245607744
ENSE00003609523	245366834	245367367
ENSE00003682150	245684233	245684395

Expression profiles

Bgee: expression breadth ubiquitous, 113 present calls, max score 88.01.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.7183 / max 251.5770, expressed in 1014 samples.

FANTOM5 promoters (17 alternative TSS)

Promoter ID	TPM avg	Samples expressed
9520	4.9896	877
9529	1.0685	46
9532	0.4964	38
9534	0.4770	46
9525	0.3362	122
9521	0.2999	154
9531	0.2924	34
9528	0.2748	42
9516	0.2713	139
9518	0.2603	109

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	88.01	gold quality
ganglionic eminence	UBERON:0004023	86.11	gold quality
stromal cell of endometrium	CL:0002255	83.56	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	75.57	gold quality
cortical plate	UBERON:0005343	72.60	gold quality
endometrium	UBERON:0001295	70.20	gold quality
placenta	UBERON:0001987	69.61	gold quality
substantia nigra	UBERON:0002038	69.26	gold quality
cerebellum	UBERON:0002037	69.14	gold quality
cerebellar cortex	UBERON:0002129	69.04	gold quality
cerebellar hemisphere	UBERON:0002245	68.91	gold quality
temporal lobe	UBERON:0001871	68.61	gold quality
amygdala	UBERON:0001876	68.61	gold quality
right hemisphere of cerebellum	UBERON:0014890	68.15	gold quality
hypothalamus	UBERON:0001898	67.58	gold quality
islet of Langerhans	UBERON:0000006	67.51	gold quality
prefrontal cortex	UBERON:0000451	67.06	gold quality
anterior cingulate cortex	UBERON:0009835	66.28	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	66.10	gold quality
superior frontal gyrus	UBERON:0002661	65.47	gold quality
metanephros cortex	UBERON:0010533	65.47	gold quality
frontal cortex	UBERON:0001870	65.41	gold quality
Ammon’s horn	UBERON:0001954	65.36	gold quality
cerebral cortex	UBERON:0000956	65.02	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	64.13	gold quality
primary visual cortex	UBERON:0002436	64.01	gold quality
brain	UBERON:0000955	63.63	gold quality
right frontal lobe	UBERON:0002810	62.98	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	62.72	gold quality
apex of heart	UBERON:0002098	62.12	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	16.14
E-ANND-3	no	1.34

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

76 targeting KIF26B, 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-6740-5P	100.00	65.64	932
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-767-5P	99.95	70.85	993
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-5682	99.89	72.56	1005
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-93-5P	99.88	73.98	2606

Literature-anchored findings (GeneRIF, showing 15)

• High expression of KIF26B in breast cancer associates with poor prognosis. (PMID:23585914)
• KIF26B plays an important role in colorectal carcinogenesis and functions as a novel prognostic indicator and a potential therapeutic target for CRC. (PMID:25652119)
• KIF26B, a novel oncogene regulated by miR-372, promotes proliferation and metastasis through the VEGF pathway in gastric cancer (PMID:28581513)
• Upregulation of KIF26B enhanced proliferation and migration of ovarian cancer cells in vitro (PMID:29880787)
• KIF26B may play a critical role in the brain development and, when mutated, cause pontocerebellar hypoplasia with arthrogryposis. (PMID:30151950)
• KIF26B promoted the development and progression of breast cancer and might act as a potential therapeutic target for treating breast cancer. (PMID:30248545)
• Our results did prove a statistical association of both rs2228557 and rs12407427 genotypes (TT and CT + CC) and allele (T) with KTCN susceptibility in Iranian population. (PMID:31077021)
• ELK1-induced up-regulation of KIF26B promotes cell cycle progression in breast cancer. (PMID:34817735)
• KIF26B Is Overexpressed in Medulloblastoma and Promotes Malignant Progression by Activating the PI3K/AKT Pathway. (PMID:35866054)
• The Kinesin Gene KIF26B Modulates the Severity of Post-Traumatic Heterotopic Ossification. (PMID:36012474)
• Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux. (PMID:36417404)
• Noncoding RNAs-based high KIF26B expression correlates with poor prognosis and tumor immune infiltration in colon cancer. (PMID:37436127)
• KIF26B and CREB3L1 Derived from Immunoscore Could Inhibit the Progression of Ovarian Cancer. (PMID:38380081)
• Kinesin 26B modulates M2 polarization of macrophage by activating cancer-associated fibroblasts to aggravate gastric cancer occurrence and metastasis. (PMID:38855156)
• Identification of KIF26B as a Tumor Marker for Oral Squamous Cell Carcinoma. (PMID:38926114)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	kif26ba	ENSDARG00000013343
mus_musculus	Kif26b	ENSMUSG00000026494
rattus_norvegicus	Kif26b	ENSRNOG00000028624

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), KIF12 (ENSG00000136883), KIF13A (ENSG00000137177), KIF23 (ENSG00000137807), KIF11 (ENSG00000138160), CENPE (ENSG00000138778), KIF21A (ENSG00000139116), KIFC3 (ENSG00000140859), KIF2B (ENSG00000141200), KIF2C (ENSG00000142945), KIF5A (ENSG00000155980), 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 KIF26B — Q2KJY2 (reviewed: Q2KJY2)

All UniProt accessions (2): B7WPD9, Q2KJY2

UniProt curated annotations — full annotation on UniProt →

Function. Essential for embryonic kidney development. Plays an important role in the compact adhesion between mesenchymal cells adjacent to the ureteric buds, possibly by interacting with MYH10. This could lead to the establishment of the basolateral integrity of the mesenchyme and the polarized expression of ITGA8, which maintains the GDNF expression required for further ureteric bud attraction. Although it seems to lack ATPase activity it is constitutively associated with microtubules.

Subunit / interactions. Interacts with MYH10.

Subcellular location. Cytoplasm. Cytoskeleton.

Post-translational modifications. Phosphorylation at Thr-1855 and Ser-1958 by CDKs, mainly CDK2 and CDK5, enhances the interaction with NEDD4, polyubiquitination, and subsequent proteasomal degradation. Phosphorylation occurs upon loss of interaction with microtubules. Polyubiquitinated by NEDD4, resulting in proteasomal degradation.

Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. KIF26 subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q2KJY2-1	1	yes
Q2KJY2-2	2

RefSeq proteins (1): NP_060482* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001752	Kinesin_motor_dom	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR027640	Kinesin-like_fam	Family
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily
IPR057090	HTH_KIF26A_B_1st	Domain

Pfam: PF00225, PF23081

UniProt features (38 total): compositionally biased region 16, region of interest 9, sequence conflict 5, modified residue 2, splice variant 2, chain 1, domain 1, binding site 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q2KJY2-F1	45.94	0.11

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): 546–553

Post-translational modifications (2): 1855, 1958

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: 150 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_METANEPHRIC_NEPHRON_MORPHOGENESIS, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, GOBP_METANEPHROS_DEVELOPMENT, GOBP_GROWTH, GOBP_RENAL_VESICLE_DEVELOPMENT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_KIDNEY_EPITHELIUM_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_CELL_CELL_ADHESION, GOBP_ESTABLISHMENT_OF_CELL_POLARITY, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_NEPHRON_EPITHELIUM_DEVELOPMENT

GO Biological Process (5): microtubule-based movement (GO:0007018), positive regulation of cell-cell adhesion (GO:0022409), establishment of cell polarity (GO:0030010), ureteric bud invasion (GO:0072092), system development (GO:0048731)

GO Molecular Function (5): microtubule motor activity (GO:0003777), ATP binding (GO:0005524), microtubule binding (GO:0008017), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774)

GO Cellular Component (3): cytoplasm (GO:0005737), microtubule (GO:0005874), cytoskeleton (GO:0005856)

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
microtubule-based process	1
regulation of cell-cell adhesion	1
positive regulation of cell adhesion	1
cell-cell adhesion	1
establishment or maintenance of cell polarity	1
developmental growth involved in morphogenesis	1
ureteric bud elongation	1
metanephric renal vesicle formation	1
multicellular organism development	1
anatomical structure development	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
ATP-dependent activity	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
tubulin binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
intracellular anatomical structure	1
cellular anatomical structure	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1322 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KIF26B	MYH10	P35580	604
KIF26B	BSDC1	Q9NW68	531
KIF26B	MAP4K4	O95819	483
KIF26B	ANKLE2	Q86XL3	470
KIF26B	CBLL1	Q75N03	465
KIF26B	DRC8	Q5VUJ9	448
KIF26B	ZC3H13	Q5T200	446
KIF26B	MYO18B	Q8IUG5	434
KIF26B	EPYC	Q99645	432
KIF26B	OR4K17	Q8NGC6	431
KIF26B	SLC38A10	Q9HBR0	429
KIF26B	LIN7C	Q9NUP9	428
KIF26B	ZBTB18	Q99592	419
KIF26B	BTBD9	Q96Q07	405
KIF26B	NEK6	Q9HC98	396

IntAct

22 interactions, top by confidence:

A	B	Type	Score
LIN7C	ABLIM1	psi-mi:“MI:0914”(association)	0.530
LIN7B	CASK	psi-mi:“MI:0914”(association)	0.530
Ckap5	CCHCR1	psi-mi:“MI:0914”(association)	0.350
Spcs2	SEC11A	psi-mi:“MI:0914”(association)	0.350
BUB1	RBPMS	psi-mi:“MI:0914”(association)	0.350
Bsdc1	SSB	psi-mi:“MI:0914”(association)	0.350
Ccn1	SRGAP3	psi-mi:“MI:0914”(association)	0.350
KIF26B	CASK	psi-mi:“MI:0914”(association)	0.350
KSR1	FBLL1	psi-mi:“MI:0914”(association)	0.350
KSR1	FAM168B	psi-mi:“MI:0914”(association)	0.350
KSR1		psi-mi:“MI:0914”(association)	0.350
KATNAL2	CDK1	psi-mi:“MI:0914”(association)	0.350
CASK	ABLIM1	psi-mi:“MI:0914”(association)	0.350
SFN	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270
YWHAB	E2F8	psi-mi:“MI:2364”(proximity)	0.270
YWHAE	E2F8	psi-mi:“MI:2364”(proximity)	0.270
YWHAH	E2F8	psi-mi:“MI:2364”(proximity)	0.270
YWHAQ	E2F8	psi-mi:“MI:2364”(proximity)	0.270
YWHAZ	E2F8	psi-mi:“MI:2364”(proximity)	0.270
YWHAG	E2F8	psi-mi:“MI:2364”(proximity)	0.270
KIF26B	MAP4K4	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (60): KIF26B (Two-hybrid), KIF26B (Affinity Capture-MS), KIF26B (Affinity Capture-MS), KIF26B (Affinity Capture-MS), KIF26B (Two-hybrid), DLG1 (Affinity Capture-MS), CASK (Affinity Capture-MS), ZC3H13 (Affinity Capture-MS), ANKLE2 (Affinity Capture-MS), WBP11 (Affinity Capture-MS), KIF26B (Affinity Capture-MS), LIN7C (Affinity Capture-MS), CBLL1 (Affinity Capture-MS), MPP7 (Affinity Capture-MS), KIF26B (Affinity Capture-MS)

ESM2 similar proteins: E1BE02, E7FFX1, E9Q0S6, O00716, O02747, O15055, O15534, O35261, O35973, O54943, O70361, P30561, P41738, P41739, P53762, P56645, P56931, P57082, P70325, P97460, P97481, Q04891, Q14209, Q16254, Q1LVK9, Q2KJY2, Q2T9I9, Q2VPD4, Q5SSZ5, Q66IG8, Q68CZ2, Q6S7F2, Q76I79, Q861Q9, Q8CHI5, Q8CJE2, Q8K3T2, Q8K3T3, Q8QGQ8, Q8R4S2

Diamond homologs: Q21441, Q2KJY2, Q60LV7, Q9ULI4, Q29MB2, Q52KG5, Q7TNC6, Q9VLW2, A1ZAJ2, A2ZRG4, A8BB91, B3H6Z8, B7EJ91, B9EUM5, B9F7C8, B9FL70, F1QN54, F4HZF0, F4IBQ9, F4ICA0, F4IIS5, F4J1U4, F4J2M6, F4JGP4, F4K4C5, L0N7N1, O14782, O15066, O23826, O35066, O35071, O35787, O43896, O55165, O60282, P17120, P17210, P21613, P27895, P28738

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
NEDD4	“down-regulates quantity by destabilization”	KIF26B	polyubiquitination
NEDD4	“down-regulates quantity by destabilization”	KIF26B	ubiquitination

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
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	8	268.7×	9e-17
Activation of BAD and translocation to mitochondria	7	266.5×	7e-15
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	235.1×	2e-14
Activation of BH3-only proteins	7	173.8×	2e-13
RHO GTPases activate PKNs	7	111.0×	5e-12
Intrinsic Pathway for Apoptosis	7	102.5×	7e-12
FOXO-mediated transcription	5	84.0×	2e-08
SARS-CoV-1-host interactions	7	61.5×	1e-10

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	5	76.3×	5e-07
intracellular protein localization	8	34.9×	8e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	358
Likely benign	70
Benign	45

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
217290	NM_018012.4(KIF26B):c.5146_5167del (p.Thr1716fs)	Pathogenic
565253	GRCh37/hg19 1q44(chr1:245278737-245971950)x1	Pathogenic

SpliceAI

7337 predictions. Top by Δscore:

Variant	Effect	Δscore
1:245367368:G:GA	donor_loss	1.0000
1:245419574:GTCA:G	acceptor_loss	1.0000
1:245419741:GCACG:G	donor_gain	1.0000
1:245419742:CACGG:C	donor_loss	1.0000
1:245419744:CG:C	donor_gain	1.0000
1:245419745:GG:G	donor_gain	1.0000
1:245419746:G:C	donor_loss	1.0000
1:245419746:G:GG	donor_gain	1.0000
1:245419747:T:G	donor_loss	1.0000
1:245602779:CTCAG:C	donor_loss	1.0000
1:245602784:G:GA	donor_loss	1.0000
1:245602785:T:A	donor_loss	1.0000
1:245609254:T:A	acceptor_gain	1.0000
1:245609255:G:A	acceptor_gain	1.0000
1:245609524:CGCAG:C	donor_loss	1.0000
1:245609525:GCAGG:G	donor_loss	1.0000
1:245609527:AGG:A	donor_loss	1.0000
1:245609528:GG:G	donor_loss	1.0000
1:245609529:G:GA	donor_loss	1.0000
1:245609530:T:G	donor_loss	1.0000
1:245611788:TCCA:T	acceptor_loss	1.0000
1:245611789:CCA:C	acceptor_loss	1.0000
1:245611791:A:AG	acceptor_gain	1.0000
1:245611791:A:C	acceptor_loss	1.0000
1:245611792:G:GG	acceptor_gain	1.0000
1:245611792:GC:G	acceptor_gain	1.0000
1:245611792:GCT:G	acceptor_gain	1.0000
1:245611792:GCTGC:G	acceptor_gain	1.0000
1:245611972:GGGAA:G	donor_gain	1.0000
1:245611973:GGAA:G	donor_gain	1.0000

AlphaMissense

13788 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:245156612:T:C	C132R	1.000
1:245156614:C:G	C132W	1.000
1:245156634:T:C	L139P	1.000
1:245366918:T:C	C184R	1.000
1:245366927:T:C	C187R	1.000
1:245366949:T:C	L194S	1.000
1:245540772:C:A	A391D	1.000
1:245540781:T:C	L394S	1.000
1:245609337:T:A	W575R	1.000
1:245609337:T:C	W575R	1.000
1:245609392:T:A	V593D	1.000
1:245646142:T:C	L707P	1.000
1:245686551:T:C	F1190L	1.000
1:245686553:C:A	F1190L	1.000
1:245686553:C:G	F1190L	1.000
1:245698247:T:C	I1989T	1.000
1:245698247:T:G	I1989S	1.000
1:245698984:T:C	L2042P	1.000
1:245156603:T:A	C129S	0.999
1:245156603:T:C	C129R	0.999
1:245156604:G:A	C129Y	0.999
1:245156604:G:C	C129S	0.999
1:245156605:C:G	C129W	0.999
1:245156612:T:A	C132S	0.999
1:245156613:G:A	C132Y	0.999
1:245156613:G:C	C132S	0.999
1:245156613:G:T	C132F	0.999
1:245156625:T:C	L136P	0.999
1:245366918:T:A	C184S	0.999
1:245366919:G:A	C184Y	0.999

dbSNP variants (sampled 300 via entrez): RS1000014882 (1:245407641 A>C), RS1000016561 (1:245604415 C>T), RS1000018998 (1:245440099 T>C), RS1000020248 (1:245521269 G>A,C), RS1000027555 (1:245355114 A>G), RS1000028995 (1:245476452 A>C,G), RS1000032480 (1:245568866 G>T), RS1000042084 (1:245367718 A>T), RS1000042534 (1:245680701 T>C), RS1000044178 (1:245161568 GTAATAA>G,GTAA,GTAATAATAA), RS1000053328 (1:245643562 G>A,T), RS1000053731 (1:245213571 G>A), RS1000068811 (1:245610453 A>C), RS1000078190 (1:245280236 G>A,T), RS1000094254 (1:245401857 G>A,T)

Disease associations

OMIM: gene MIM:614026 | disease phenotypes: MIM:164400, MIM:189800

GenCC curated gene-disease

Disease	Classification	Inheritance
multiple congenital anomalies/dysmorphic syndrome	Limited	Autosomal dominant

Mondo (4): autosomal dominant cerebellar ataxia (MONDO:0020380), preeclampsia (MONDO:0005081), neurodevelopmental disorder (MONDO:0700092), multiple congenital anomalies/dysmorphic syndrome (MONDO:0019042)

Orphanet (2): Autosomal dominant cerebellar ataxia (Orphanet:99), Preeclampsia (Orphanet:275555)

HPO phenotypes

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

GWAS associations

18 associations (top):

Study	Trait	p-value
GCST001757_14	Schizophrenia	7.000000e-06
GCST003118_2	Response to serotonin reuptake inhibitors in non-psychotic unipolar depression	6.000000e-06
GCST003518_26	Daytime sleep phenotypes	3.000000e-06
GCST003518_40	Daytime sleep phenotypes	8.000000e-06
GCST004639_10	Prudent dietary pattern	2.000000e-06
GCST006479_53	Diverticular disease	1.000000e-07
GCST007088_1	Ischemic heart disease in rheumatoid arthritis	1.000000e-07
GCST009391_1676	Metabolite levels	3.000000e-06
GCST010697_33	Cortical surface area (min-P)	4.000000e-08
GCST010698_56	Subcortical volume (min-P)	8.000000e-10
GCST010699_46	Brain morphology (min-P)	3.000000e-08
GCST010700_40	Cortical thickness (MOSTest)	4.000000e-08
GCST010701_118	Cortical surface area (MOSTest)	4.000000e-11
GCST010702_106	Subcortical volume (MOSTest)	9.000000e-10
GCST010703_240	Brain morphology (MOSTest)	5.000000e-12
GCST011359_20	Venous thromboembolism	5.000000e-08
GCST012046_1	Fasting insulin	7.000000e-07
GCST90013658_4	Myeloperoxidase-DNA complexes	1.000000e-06

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0005658	response to selective serotonin reuptake inhibitor
EFO:0007828	daytime rest measurement
EFO:0008111	diet measurement
EFO:0009959	diverticular disease
EFO:0001425	ischemic cardiomyopathy
EFO:0010342	cholesteryl ester 16:1 measurement
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness
EFO:0011039	myeloperoxidase (MPO)-DNA complex measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625
D011225	Pre-Eclampsia	C12.050.703.395.249

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	3
bisphenol A	decreases expression, decreases methylation	2
Valproic Acid	increases expression, increases methylation	2
Aflatoxin B1	decreases expression, increases methylation	2
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
sodium arsenite	increases expression	1
benzo(e)pyrene	affects methylation	1
aflatoxin B2	increases methylation	1
2,3,5-trichloro-6-phenyl-(1,4)benzoquinone	decreases expression	1
Arbutin	decreases expression	1
Arsenic	affects methylation	1
Calcitriol	decreases expression	1
Dexamethasone	decreases expression	1
Fluorouracil	decreases expression	1
Hydrogen Peroxide	affects expression	1
Methapyrilene	affects methylation	1
Nickel	decreases expression	1
Phenylmercuric Acetate	increases expression	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Triclosan	decreases expression	1
Cadmium Chloride	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00117546	PHASE4	UNKNOWN	Cardiovascular and Autonomic Reactivity in Women With a History of Pre-eclampsia
NCT00567957	PHASE4	UNKNOWN	Remifentanil for General Anesthesia in Preeclamptics
NCT01030627	PHASE4	COMPLETED	Treatment Approaches to Preeclampsia
NCT01352234	PHASE4	COMPLETED	Comparison of Doses of Acetylsalicylic Acid in Women With Previous History of Preeclampsia
NCT01361425	PHASE4	UNKNOWN	Anti-Hypertensive Treatment In Stable Pregnant Women With Severe Pre-Eclampsia (Metildopape)
NCT01729468	PHASE4	COMPLETED	Prevention of Pre-eclampsia and SGA by Low-Dose Aspirin in Nulliparous Women With Abnormal First-trimester Uterine Artery Dopplers
NCT01761916	PHASE4	COMPLETED	Clonidine Versus Captopril for Treatment of Postpartum Very High Blood Pressure
NCT01912677	PHASE4	COMPLETED	Oral Antihypertensive Regimens for Management of Hypertension in Pregnancy
NCT02025426	PHASE4	TERMINATED	Phenylephrine Versus Ephedrine in Pre-eclampsia
NCT02091401	PHASE4	COMPLETED	A Trial Comparing Treatment With the Springfusor Infusion Pump to the IV Magnesium Sulfate Regimen
NCT02163655	PHASE4	COMPLETED	Diuretics for Postpartum High Blood Pressure in Preeclampsia
NCT02338687	PHASE4	COMPLETED	Low Dose Calcium to Prevent Preeclampsia
NCT02396030	PHASE4	TERMINATED	Different Schemes of Magnesium Sulfate for Preeclampsia
NCT02531490	PHASE4	UNKNOWN	Early Vascular Adjustments During Hypertensive Pregnancy
NCT02699827	PHASE4	COMPLETED	Adding MgSO4 to Epidural Levobupivacaine in CS for Patients With Preeclampsia
NCT02835339	PHASE4	COMPLETED	Magnesium Sulfate in Obese Preeclamptics
NCT02891174	PHASE4	COMPLETED	The Effect of Ibuprofen on Post-partum Blood Pressure in Women With Hypertensive Disorders of Pregnancy
NCT02911701	PHASE4	COMPLETED	Effect of Acetaminophen on Postpartum Blood Pressure Control in Preeclampsia With Severe Features
NCT03171480	PHASE4	COMPLETED	Use of Nitrous Oxide Donor for Labor Induction in Women With PreEclampsia
NCT03233880	PHASE4	UNKNOWN	Impact of Antichlamydial Treatment on the Rate of Preeclampsia
NCT03237000	PHASE4	UNKNOWN	Effect of Administering Intravenous Magnesium Sulfate on Fetal Cardiotocography and Neonatal Outcome in Preeclamptic Patients
NCT03506724	PHASE4	COMPLETED	Response to Anti-hypertensives in Pregnant and Postpartum Patients
NCT03674606	PHASE4	COMPLETED	Trial of Early Screening Test for Pre-eclampsia and Growth Restriction
NCT03735433	PHASE4	TERMINATED	The Effect of Two Aspirin Dosing Strategies for Obese Women at High Risk for Preeclampsia
NCT03824119	PHASE4	UNKNOWN	Postpartum NSAIDS and Maternal Hypertension
NCT04051567	PHASE4	UNKNOWN	Low-dose Aspirin for Prevention of Adverse Pregnancy Outcomes in Twin Pregnancies
NCT04077853	PHASE4	COMPLETED	Progesterone in Expectantly Managed Early-onset Preeclampsia
NCT04158830	PHASE4	WITHDRAWN	Aspirin (ASA) Therapy and Preeclampsia Prevention
NCT04424693	PHASE4	UNKNOWN	Comparing the Incidence of Preeclampsia Between Pregnant Women Receiving Tdap Vaccinations at Week 28 or at Week 36
NCT04631627	PHASE4	UNKNOWN	Early Prediction and Randomised Prevention of Preeclampsia With Low Dose Aspirin in Chinese Cohort
NCT04656665	PHASE4	UNKNOWN	The Effectiveness of Aspirin on Preventing Pre-eclampsia
NCT04797949	PHASE4	WITHDRAWN	Adherence to Universal Aspirin Compared to Screening Indicated Aspirin for Prevention of Preeclampsia
NCT04908982	PHASE4	UNKNOWN	Aspirin for the Prevention of Preeclampsia in Women With Stage 1 Hypertension
NCT05221164	PHASE4	UNKNOWN	162 mg of Aspirin for Prevention of Preeclampsia
NCT05294952	PHASE4	UNKNOWN	co Ihibtory Receptor in Preeclampsia
NCT05514847	PHASE4	ACTIVE_NOT_RECRUITING	Low Dose Aspirin for Preterm Preeclampsia Preventionmg/day Dose in High-risk Patients
NCT05586373	PHASE4	COMPLETED	Ibuprofen vs Dipyrone After C-section in Preeclampsia
NCT06069102	PHASE4	COMPLETED	Optimal Blood Pressure Treatment Thresholds Postpartum
NCT06107335	PHASE4	NOT_YET_RECRUITING	Effect of Albumin Versus Routine Care on Hemodynamic Response and Stability in Patients With Preeclampsia Guided by a Non-invasive Hemodynamic Monitoring System During Cesarean Delivery With Spinal Anesthesia
NCT06281665	PHASE4	RECRUITING	Treatment With Aspirin After Preeclampsia: TAP Trial