KIF26A

Summary

KIF26A (kinesin family member 26A, HGNC:20226) is a protein-coding gene on chromosome 14q32.33, encoding Kinesin-like protein KIF26A (Q9ULI4). Atypical kinesin that plays a key role in enteric neuron development.

Predicted to enable microtubule binding activity. Involved in cerebral cortex development; regulation of neuron migration; and regulation of neuron projection development. Predicted to be located in cytosol. Implicated in complex cortical dysplasia with other brain malformations.

Source: NCBI Gene 26153 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex cortical dysplasia with other brain malformations (Strong, ClinGen) — +1 more curated relationship
• GWAS associations: 11
• Clinical variants (ClinVar): 587 total — 5 pathogenic, 5 likely-pathogenic
• Phenotypes (HPO): 32
• MANE Select transcript: NM_015656

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20226
Approved symbol	KIF26A
Name	kinesin family member 26A
Location	14q32.33
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1236, DKFZP434N178
Ensembl gene	ENSG00000066735
Ensembl biotype	protein_coding
OMIM	613231
Entrez	26153

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000315264, ENST00000423312, ENST00000697132, ENST00000926957

RefSeq mRNA: 1 — MANE Select: NM_015656 NM_015656

CCDS: CCDS45171

Canonical transcript exons

ENST00000423312 — 15 exons

Exon	Start	End
ENSE00000373345	104172575	104172668
ENSE00000660698	104171723	104171935
ENSE00000660700	104173706	104173868
ENSE00000660701	104174148	104174310
ENSE00000660703	104179236	104179386
ENSE00000862453	104172977	104173239
ENSE00000862456	104178550	104178755
ENSE00001184801	104166859	104167048
ENSE00001299525	104174982	104177898
ENSE00001432719	104179609	104180894
ENSE00001657956	104138587	104138764
ENSE00001707890	104157755	104157942
ENSE00001755023	104139043	104139288
ENSE00001767996	104173330	104173513
ENSE00003634123	104152015	104152461

Expression profiles

Bgee: expression breadth ubiquitous, 169 present calls, max score 87.34.

FANTOM5 (CAGE): breadth broad, TPM avg 7.8326 / max 267.5321, expressed in 766 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
141794	7.2712	751
141793	0.5614	348

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	87.34	gold quality
pancreatic ductal cell	CL:0002079	86.49	silver quality
ganglionic eminence	UBERON:0004023	85.64	gold quality
embryo	UBERON:0000922	85.63	gold quality
cardiac muscle of right atrium	UBERON:0003379	84.71	gold quality
upper arm skin	UBERON:0004263	84.40	gold quality
cortical plate	UBERON:0005343	84.07	gold quality
kidney epithelium	UBERON:0004819	83.29	gold quality
trabecular bone tissue	UBERON:0002483	82.53	gold quality
tendon of biceps brachii	UBERON:0008188	81.88	silver quality
apex of heart	UBERON:0002098	80.10	gold quality
heart right ventricle	UBERON:0002080	79.61	silver quality
amniotic fluid	UBERON:0000173	75.98	silver quality
endothelial cell	CL:0000115	75.89	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	75.53	gold quality
mucosa of sigmoid colon	UBERON:0004993	74.75	silver quality
vastus lateralis	UBERON:0001379	74.14	gold quality
mammary duct	UBERON:0001765	73.99	silver quality
cardiac ventricle	UBERON:0002082	73.98	gold quality
heart left ventricle	UBERON:0002084	73.93	gold quality
epithelium of mammary gland	UBERON:0003244	73.85	silver quality
tibia	UBERON:0000979	73.67	gold quality
epithelial cell of pancreas	CL:0000083	73.65	gold quality
colonic mucosa	UBERON:0000317	73.65	gold quality
biceps brachii	UBERON:0001507	73.65	gold quality
quadriceps femoris	UBERON:0001377	73.61	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	73.54	silver quality
metanephros	UBERON:0000081	73.13	gold quality
placenta	UBERON:0001987	73.10	gold quality
subcutaneous adipose tissue	UBERON:0002190	72.97	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.39

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

74 targeting KIF26A, 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-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-3163	100.00	77.23	8605
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-493-5P	99.96	72.47	2382
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-6753-3P	99.93	66.57	637
HSA-MIR-7107-3P	99.93	66.73	627
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-5682	99.89	72.56	1005
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-129-5P	99.88	70.26	3273
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-7978	99.86	66.90	856
HSA-MIR-8067	99.86	69.59	2260
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-548AJ-5P	99.78	71.12	3085

Literature-anchored findings (GeneRIF, showing 2)

• Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. (PMID:36228617)
• KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon. (PMID:36564622)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	kif26ab	ENSDARG00000015016
danio_rerio	kif26aa	ENSDARG00000042368
mus_musculus	Kif26a	ENSMUSG00000021294
rattus_norvegicus	Kif26a	ENSRNOG00000013661

Paralogs (41): KIF1B (ENSG00000054523), 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), 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 KIF26A — Q9ULI4 (reviewed: Q9ULI4)

All UniProt accessions (3): Q9ULI4, A0A8V8TM02, C9JFF0

UniProt curated annotations — full annotation on UniProt →

Function. Atypical kinesin that plays a key role in enteric neuron development. Acts by repressing a cell growth signaling pathway in the enteric nervous system development, possibly via its interaction with GRB2 that prevents GRB2-binding to SHC, thereby attenating the GDNF-Ret signaling. Binds to microtubules but lacks microtubule-based motility due to the absence of ATPase activity. Plays a critical role in cerebral cortical development. It probably acts as a microtubule stabilizer that regulates neurite growth and radial migration of cortical excitatory neurons.

Subunit / interactions. Interacts with GRB2 (via SH2 domain).

Subcellular location. Cytoplasm. Cytoskeleton.

Tissue specificity. In the developing cerebral cortex, preferentially expressed by migrating excitatory neurons.

Disease relevance. Cortical dysplasia, complex, with other brain malformations 11 (CDCBM11) [MIM:620156] An autosomal recessive disorder of aberrant neuronal migration during brain development. CDCBM11 is characterized by dilated ventricles and reduced white matter, and is associated with axonal developmental defects. The disease may be caused by variants affecting the gene represented in this entry.

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

RefSeq proteins (1): NP_056471* (*=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 (37 total): compositionally biased region 14, region of interest 8, sequence variant 5, modified residue 4, sequence conflict 2, 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-Q9ULI4-F1	48.09	0.12

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): 469–476

Post-translational modifications (4): 31, 885, 1262, 1662

Function

Pathways and Gene Ontology

Reactome pathways

11 pathways

ID	Pathway
R-HSA-2132295	MHC class II antigen presentation
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-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: 193 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_GROWTH, GOBP_NEUROGENESIS, REACTOME_MEMBRANE_TRAFFICKING, GOBP_FOREBRAIN_DEVELOPMENT, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_CEREBRAL_CORTEX_DEVELOPMENT, WONG_ENDMETRIUM_CANCER_DN, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, GOBP_PALLIUM_DEVELOPMENT, GOBP_REGULATION_OF_NEURON_MIGRATION, GOBP_NEURON_MIGRATION, GOBP_HEAD_DEVELOPMENT, GOBP_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT

GO Biological Process (8): regulation of cell growth by extracellular stimulus (GO:0001560), negative regulation of signal transduction (GO:0009968), regulation of neuron projection development (GO:0010975), cerebral cortex development (GO:0021987), enteric nervous system development (GO:0048484), regulation of neuron migration (GO:2001222), microtubule-based movement (GO:0007018), system development (GO:0048731)

GO Molecular Function (6): ATP binding (GO:0005524), microtubule binding (GO:0008017), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), microtubule motor activity (GO:0003777), protein binding (GO:0005515)

GO Cellular Component (4): cytosol (GO:0005829), microtubule (GO:0005874), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
Adaptive Immune System	1
Golgi-to-ER retrograde transport	1
Factors involved in megakaryocyte development and platelet production	1
Immune System	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
anatomical structure development	2
cellular anatomical structure	2
regulation of cell growth	1
cellular response to stimulus	1
signal transduction	1
regulation of signal transduction	1
negative regulation of cell communication	1
negative regulation of signaling	1
negative regulation of response to stimulus	1
neuron projection development	1
regulation of plasma membrane bounded cell projection organization	1
pallium development	1
autonomic nervous system development	1
system development	1
neuron migration	1
regulation of cell migration	1
microtubule-based process	1
multicellular organism development	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
tubulin binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
ATP-dependent activity	1
binding	1
cytoplasm	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

991 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KIF26A	GRB2	P29354	769
KIF26A	GDNF	P39905	601
KIF26A	RET	P07949	521
KIF26A	TMEM179	Q6ZVK1	496
KIF26A	LDB2	O43679	423
KIF26A	PARM1	Q6UWI2	419
KIF26A	OR4F15	Q8NGB8	403
KIF26A	SLC6A5	Q9Y345	377
KIF26A	OR7A17	O14581	370
KIF26A	OR4F6	Q8NGB9	358
KIF26A	TSHZ2	Q9NRE2	355
KIF26A	TOR1B	O14657	351
KIF26A	PLCE1	Q9P212	347
KIF26A	TINAGL1	Q9GZM7	346
KIF26A	KIFAP3	Q92845	340

IntAct

27 interactions, top by confidence:

A	B	Type	Score
KCNJ2	KCNJ18	psi-mi:“MI:2364”(proximity)	0.660
TBC1D21	KIF26A	psi-mi:“MI:0915”(physical association)	0.600
KIF26A	TBC1D21	psi-mi:“MI:0915”(physical association)	0.600
CTAG1A	KIF26A	psi-mi:“MI:0915”(physical association)	0.560
KIF26A	PKM	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
KIF26A	GRB2	psi-mi:“MI:0915”(physical association)	0.400
PLCXD2	KIF26A	psi-mi:“MI:0915”(physical association)	0.400
Magoh	TRAPPC13	psi-mi:“MI:0914”(association)	0.350
Clspn	MCM3	psi-mi:“MI:0914”(association)	0.350
Setd3	PACSIN1	psi-mi:“MI:0914”(association)	0.350
Slain2	FXR1	psi-mi:“MI:0914”(association)	0.350
ARRB1		psi-mi:“MI:0914”(association)	0.350
CASK	ABLIM1	psi-mi:“MI:0914”(association)	0.350
ATG16L1		psi-mi:“MI:0914”(association)	0.350
	NFIB	psi-mi:“MI:0914”(association)	0.350
	ILVBL	psi-mi:“MI:0914”(association)	0.350
KIF26A	TBC1D21	psi-mi:“MI:0915”(physical association)	0.000
KIF26A	CTAG1A	psi-mi:“MI:0915”(physical association)	0.000
TBC1D21	KIF26A	psi-mi:“MI:0915”(physical association)	0.000
MAPK10	KIF26A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (23): KIF26A (Affinity Capture-MS), KIF26A (Affinity Capture-MS), KIF26A (Affinity Capture-MS), KIF26A (Affinity Capture-MS), KIF26A (Affinity Capture-MS), KIF26A (Affinity Capture-RNA), KIF26A (Affinity Capture-MS), TBC1D21 (Two-hybrid), CTAG1B (Two-hybrid), CTAG1A (Two-hybrid), KIF26A (Affinity Capture-MS), KIF26A (Affinity Capture-MS), KIF26A (Affinity Capture-MS), KIF26A (Affinity Capture-RNA), KIF26A (Protein-peptide)

ESM2 similar proteins: A0A0U1RR11, A0A0U1RRI6, A6NCS6, A6NJG2, B0BN44, D3YXK1, E9PY61, E9Q0B3, F5H4A9, O00220, O00221, P09038, P0DPI3, P22083, P98077, Q08AU9, Q2M2W7, Q2M3V2, Q2TBI2, Q5F267, Q5FW56, Q5IS69, Q5R866, Q5T4W7, Q5TM52, Q5U4P2, Q5VTJ3, Q659K9, Q673H1, Q69ZB3, Q6AYE8, Q6IPT2, Q6PJ61, Q7RTU4, Q7TSX9, Q7YR31, Q80SU3, Q86SH2, Q86Y97, Q8NBR0

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

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	5
Uncertain significance	502
Likely benign	57
Benign	4

Top pathogenic / likely-pathogenic (10)

Variant ID	HGVS	Classification
1802642	NM_015656.2(KIF26A):c.4870C>T (p.Arg1624Cys)	Pathogenic
1802643	NM_015656.2(KIF26A):c.2845C>T (p.Pro949Ser)	Pathogenic
1802645	NM_015656.2(KIF26A):c.3440dup (p.Ala1148fs)	Pathogenic
2683901	NM_015656.2(KIF26A):c.4085dup (p.Ala1363fs)	Pathogenic
3233662	NM_015656.2(KIF26A):c.4378del (p.Arg1460fs)	Pathogenic
2627109	NM_015656.2(KIF26A):c.3996C>A (p.Cys1332Ter)	Likely pathogenic
3064895	NM_015656.2(KIF26A):c.4979_4980del (p.Gly1659_Tyr1660insTer)	Likely pathogenic
3362589	NM_015656.2(KIF26A):c.3330del (p.Ser1111fs)	Likely pathogenic
4077393	NM_015656.2(KIF26A):c.3282dup (p.Pro1095fs)	Likely pathogenic
4849399	NM_015656.2(KIF26A):c.3688C>T (p.Gln1230Ter)	Likely pathogenic

SpliceAI

3230 predictions. Top by Δscore:

Variant	Effect	Δscore
14:104139284:TCCGG:T	donor_gain	1.0000
14:104139285:CCGG:C	donor_gain	1.0000
14:104139287:GG:G	donor_gain	1.0000
14:104139287:GGGTA:G	donor_loss	1.0000
14:104139288:GG:G	donor_gain	1.0000
14:104139288:GGTA:G	donor_loss	1.0000
14:104139289:G:GG	donor_gain	1.0000
14:104139290:T:A	donor_loss	1.0000
14:104166854:CCCA:C	acceptor_loss	1.0000
14:104166855:CCA:C	acceptor_loss	1.0000
14:104166857:A:AG	acceptor_gain	1.0000
14:104166857:AG:A	acceptor_gain	1.0000
14:104166857:AGG:A	acceptor_gain	1.0000
14:104166858:G:A	acceptor_gain	1.0000
14:104166858:G:GT	acceptor_gain	1.0000
14:104166858:GGG:G	acceptor_gain	1.0000
14:104166858:GGGC:G	acceptor_gain	1.0000
14:104166858:GGGCT:G	acceptor_gain	1.0000
14:104167046:A:T	donor_gain	1.0000
14:104171932:GCAG:G	donor_gain	1.0000
14:104171933:CAGG:C	donor_loss	1.0000
14:104171934:AGGT:A	donor_loss	1.0000
14:104171935:GGTAC:G	donor_loss	1.0000
14:104171936:GTACG:G	donor_loss	1.0000
14:104171937:T:A	donor_loss	1.0000
14:104172666:TGGGT:T	donor_loss	1.0000
14:104172667:GG:G	donor_gain	1.0000
14:104172668:GG:G	donor_gain	1.0000
14:104172669:G:GG	donor_gain	1.0000
14:104172669:GTAAG:G	donor_loss	1.0000

AlphaMissense

11962 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:104178682:T:C	I1748T	0.999
14:104178682:T:G	I1748S	0.999
14:104178690:T:G	Y1751D	0.998
14:104178682:T:A	I1748N	0.997
14:104173727:T:C	L630P	0.995
14:104177664:A:C	S1626R	0.995
14:104177666:C:A	S1626R	0.995
14:104177666:C:G	S1626R	0.995
14:104178690:T:A	Y1751N	0.995
14:104173733:T:C	L632P	0.994
14:104178686:G:C	K1749N	0.994
14:104178686:G:T	K1749N	0.994
14:104139239:T:C	L80P	0.993
14:104178675:T:C	F1746L	0.993
14:104178677:C:A	F1746L	0.993
14:104178677:C:G	F1746L	0.993
14:104173052:T:C	L499P	0.992
14:104175888:T:C	F1034L	0.992
14:104175890:C:A	F1034L	0.992
14:104175890:C:G	F1034L	0.992
14:104177667:A:C	S1627R	0.992
14:104177669:C:A	S1627R	0.992
14:104177669:C:G	S1627R	0.992
14:104178564:C:A	R1709S	0.992
14:104178691:A:C	Y1751S	0.992
14:104139217:T:C	C73R	0.991
14:104139219:C:G	C73W	0.991
14:104173111:T:C	S519P	0.991
14:104173376:C:A	A577D	0.991
14:104139218:G:A	C73Y	0.990

dbSNP variants (sampled 300 via entrez): RS1000005181 (14:104165439 C>G,T), RS1000051232 (14:104160951 C>T), RS1000101761 (14:104161191 G>A,T), RS1000105928 (14:104155896 C>T), RS1000213623 (14:104149212 C>T), RS1000279483 (14:104157392 G>A), RS1000300231 (14:104157177 T>C), RS1000330962 (14:104181189 G>A,T), RS1000386445 (14:104153991 A>G), RS1000392214 (14:104148834 G>A), RS1000418480 (14:104178873 A>C,G), RS1000467653 (14:104150060 C>T), RS1000481691 (14:104154195 C>G), RS1000591738 (14:104180700 TG>T,TGG), RS1000707017 (14:104155079 C>T)

Disease associations

OMIM: gene MIM:613231 | disease phenotypes: MIM:620156

GenCC curated gene-disease

Disease	Classification	Inheritance
cortical dysplasia, complex, with other brain malformations 11	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
complex cortical dysplasia with other brain malformations	Strong	AR

Mondo (1): cortical dysplasia, complex, with other brain malformations 11 (MONDO:0859332)

Orphanet (0):

HPO phenotypes

32 total (30 of 32 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000218	High palate
HP:0000238	Hydrocephalus
HP:0000278	Retrognathia
HP:0000319	Smooth philtrum
HP:0000322	Short philtrum
HP:0000341	Narrow forehead
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000369	Low-set ears
HP:0000470	Short neck
HP:0000601	Hypotelorism
HP:0000664	Synophrys
HP:0001156	Brachydactyly
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001274	Agenesis of corpus callosum
HP:0001510	Growth delay
HP:0002059	Cerebral atrophy
HP:0002079	Hypoplasia of the corpus callosum
HP:0002119	Ventriculomegaly
HP:0002126	Polymicrogyria
HP:0002595	Ileus
HP:0002705	High, narrow palate
HP:0002803	Congenital contracture
HP:0003577	Congenital onset
HP:0010636	Schizencephaly
HP:0010963	Absence of stomach bubble on fetal sonography
HP:0030048	Colpocephaly

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST005951_9	Body mass index	4.000000e-09
GCST006218_105	Erosive tooth wear (severe vs non-severe)	9.000000e-07
GCST006226_6	Erosive tooth wear (severe vs none or mild)	5.000000e-06
GCST006627_65	Diastolic blood pressure	1.000000e-09
GCST007323_42	Risk-taking tendency (4-domain principal component model)	3.000000e-08
GCST007326_3	Number of sexual partners	1.000000e-08
GCST007382_8	Plasma free amino acid levels (adjusted for twenty other PFAAs)	5.000000e-74
GCST007385_27	Plasma free amino acid levels	2.000000e-37
GCST007843_23	Rheumatoid arthritis	2.000000e-08
GCST90002400_150	Plateletcrit	2.000000e-16
GCST90002402_204	Platelet count	5.000000e-14

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0006336	diastolic blood pressure
EFO:0008579	risk-taking behaviour
EFO:0005134	amino acid measurement
EFO:0009766	asparagine measurement
EFO:0007985	platelet crit
EFO:0004309	platelet count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases methylation, affects cotreatment, decreases expression, affects expression	5
trichostatin A	affects cotreatment, decreases expression	3
Tretinoin	decreases expression, increases expression	3
Vorinostat	affects cotreatment, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
FR900359	decreases phosphorylation	1
methylmercuric chloride	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	increases expression	1
benzo(e)pyrene	affects methylation	1
aflatoxin B2	affects methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	affects methylation	1
Calcitriol	increases expression	1
Doxorubicin	decreases expression	1
Lipopolysaccharides	affects response to substance, increases expression	1
Methapyrilene	affects methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Aflatoxin B1	affects methylation	1
Antirheumatic Agents	increases expression	1
Cadmium Chloride	increases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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