SEZ6L2

Summary

SEZ6L2 (seizure related 6 homolog like 2, HGNC:30844) is a protein-coding gene on chromosome 16p11.2, encoding Seizure 6-like protein 2 (Q6UXD5). May contribute to specialized endoplasmic reticulum functions in neurons.

This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants.

Source: NCBI Gene 26470 — RefSeq curated summary.

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 158 total
• MANE Select transcript: NM_001243332

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30844
Approved symbol	SEZ6L2
Name	seizure related 6 homolog like 2
Location	16p11.2
Locus type	gene with protein product
Status	Approved
Aliases	PSK-1, FLJ90517
Ensembl gene	ENSG00000174938
Ensembl biotype	protein_coding
OMIM	616667
Entrez	26470

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 16 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000308713, ENST00000346932, ENST00000350527, ENST00000537485, ENST00000562159, ENST00000563118, ENST00000568380, ENST00000568407, ENST00000617533, ENST00000876145, ENST00000876146, ENST00000876147, ENST00000876148, ENST00000876149, ENST00000876150, ENST00000932930, ENST00000948744, ENST00000948745

RefSeq mRNA: 9 — MANE Select: NM_001243332 NM_001114099, NM_001114100, NM_001243332, NM_001243333, NM_001388363, NM_001388364, NM_001388365, NM_012410, NM_201575

CCDS: CCDS10658, CCDS10659, CCDS45458, CCDS58447, CCDS73865

Canonical transcript exons

ENST00000617533 — 18 exons

Exon	Start	End
ENSE00001178492	29872187	29872283
ENSE00001178498	29872409	29872526
ENSE00001178502	29872705	29872743
ENSE00001178505	29873240	29873431
ENSE00001178510	29873538	29873729
ENSE00001178517	29876756	29876950
ENSE00001178537	29885586	29885749
ENSE00001178541	29887649	29887817
ENSE00001178561	29895721	29895860
ENSE00001178572	29897853	29897984
ENSE00001809428	29871159	29871728
ENSE00003480819	29879864	29880064
ENSE00003490032	29888540	29888725
ENSE00003513834	29895259	29895460
ENSE00003538940	29896822	29897121
ENSE00003589328	29878287	29878425
ENSE00003641460	29877271	29877467
ENSE00003916438	29898941	29899550

Expression profiles

Bgee: expression breadth ubiquitous, 241 present calls, max score 96.96.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.8335 / max 6028.5180, expressed in 1435 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
156971	18.2464	1400
156969	9.1696	1012
156970	5.9199	897
156968	0.2402	102
207827	0.1879	78
156967	0.0695	37

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	96.96	gold quality
cerebellar cortex	UBERON:0002129	96.53	gold quality
cerebellar hemisphere	UBERON:0002245	96.52	gold quality
prefrontal cortex	UBERON:0000451	96.32	gold quality
cerebellum	UBERON:0002037	96.04	gold quality
frontal cortex	UBERON:0001870	95.12	gold quality
right frontal lobe	UBERON:0002810	95.10	gold quality
pituitary gland	UBERON:0000007	95.08	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	94.48	gold quality
Brodmann (1909) area 9	UBERON:0013540	94.47	gold quality
postcentral gyrus	UBERON:0002581	94.33	gold quality
neocortex	UBERON:0001950	94.23	gold quality
parietal lobe	UBERON:0001872	93.76	gold quality
adenohypophysis	UBERON:0002196	93.75	gold quality
superior frontal gyrus	UBERON:0002661	93.73	gold quality
hypothalamus	UBERON:0001898	93.48	gold quality
cortical plate	UBERON:0005343	93.28	gold quality
anterior cingulate cortex	UBERON:0009835	93.27	gold quality
parotid gland	UBERON:0001831	93.23	gold quality
cingulate cortex	UBERON:0003027	93.21	gold quality
cerebral cortex	UBERON:0000956	93.18	gold quality
entorhinal cortex	UBERON:0002728	92.32	gold quality
Brodmann (1909) area 46	UBERON:0006483	92.21	gold quality
forebrain	UBERON:0001890	91.84	gold quality
brain	UBERON:0000955	91.83	gold quality
telencephalon	UBERON:0001893	91.53	gold quality
primary visual cortex	UBERON:0002436	91.32	gold quality
cerebellar vermis	UBERON:0004720	91.29	gold quality
nucleus accumbens	UBERON:0001882	90.98	gold quality
temporal lobe	UBERON:0001871	90.24	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-HCAD-56	yes	691.47
E-GEOD-81547	yes	24.36
E-CURD-114	yes	11.91
E-GEOD-93593	no	10.97
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1

miRNA regulators (miRDB)

42 targeting SEZ6L2, 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-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-4652-3P	99.33	70.02	2742
HSA-MIR-133A-5P	99.28	69.13	941
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-7158-5P	99.25	67.95	796
HSA-MIR-6760-5P	98.87	66.73	1515
HSA-MIR-29B-1-5P	98.86	68.35	1364
HSA-MIR-3922-5P	98.77	66.53	1059

Literature-anchored findings (GeneRIF, showing 7)

• significant association between autism and a coding variant in the seizure-related gene SEZ6L2 gene; SEZ6L2 expression in human fetal brain was highest in post-mitotic cortical layers, hippocampus, amygdala, and thalamus (PMID:19242545)
• These results provide an extensive ascertainment of the genetic variability of SEZ6L2 in human populations and do not support a major role for SEZ6L2 sequence variations in the susceptibility to autism spectrum disorders. (PMID:21394203)
• SEZ6L2 can partially correct the cathepsin D hypersecretion. (PMID:26698217)
• SEZ6L2 knockdown impairs tumour growth by promoting caspase-dependent apoptosis in colorectal cancer. (PMID:32105413)
• Upregulated Seizure-Related 6 Homolog-Like 2 Is a Prognostic Predictor of Hepatocellular Carcinoma. (PMID:32148567)
• The Sez6 Family Inhibits Complement by Facilitating Factor I Cleavage of C3b and Accelerating the Decay of C3 Convertases. (PMID:33936031)
• SEZ6L2, regulated by USF1, accelerates the growth and metastasis of breast cancer. (PMID:35523305)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	sez6l2	ENSDARG00000076052
mus_musculus	Sez6l2	ENSMUSG00000030683
rattus_norvegicus	Sez6l2	ENSRNOG00000027098

Paralogs (39): CFH (ENSG00000000971), SELE (ENSG00000007908), C8B (ENSG00000021852), C6 (ENSG00000039537), SEZ6 (ENSG00000063015), CFHR2 (ENSG00000080910), APOH (ENSG00000091583), SEZ6L (ENSG00000100095), SUSD6 (ENSG00000100647), SRPX (ENSG00000101955), SRPX2 (ENSG00000102359), C7 (ENSG00000112936), C9 (ENSG00000113600), PAPPA2 (ENSG00000116183), CFHR3 (ENSG00000116785), CR2 (ENSG00000117322), CD46 (ENSG00000117335), CSMD2 (ENSG00000121904), C4BPA (ENSG00000123838), C4BPB (ENSG00000123843), CFHR4 (ENSG00000134365), CFHR5 (ENSG00000134389), F13B (ENSG00000143278), SUSD4 (ENSG00000143502), C8A (ENSG00000157131), SUSD3 (ENSG00000157303), CSMD3 (ENSG00000164796), SVEP1 (ENSG00000165124), C2 (ENSG00000166278), SELP (ENSG00000174175), PRF1 (ENSG00000180644), PAPPA (ENSG00000182752), CSMD1 (ENSG00000183117), SELL (ENSG00000188404), CD55 (ENSG00000196352), CR1L (ENSG00000197721), CR1 (ENSG00000203710), CFB (ENSG00000243649), CFHR1 (ENSG00000244414)

Protein

Protein identifiers

Seizure 6-like protein 2 — Q6UXD5 (reviewed: Q6UXD5)

All UniProt accessions (5): Q6UXD5, A0A087WYL5, A0A0A8K8P7, H3BN26, I3L111

UniProt curated annotations — full annotation on UniProt →

Function. May contribute to specialized endoplasmic reticulum functions in neurons.

Subcellular location. Cell membrane. Endoplasmic reticulum membrane.

Post-translational modifications. O-glycosylated with core 1 or possibly core 8 glycans.

Induction. Increased expression in the majority of primary lung cancers and lung-cell lines tested.

Miscellaneous. May serve as a prognostic marker for lung cancers.

Similarity. Belongs to the SEZ6 family.

Isoforms (6)

UniProt ID	Names	Canonical?
Q6UXD5-1	1	yes
Q6UXD5-2	2, psk-3
Q6UXD5-3	3, psk-1
Q6UXD5-4	4, psk-2
Q6UXD5-5	5
Q6UXD5-6	6

RefSeq proteins (9): NP_001107571, NP_001107572, NP_001230261, NP_001230262, NP_001375292, NP_001375293, NP_001375294, NP_036542, NP_963869 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000436	Sushi_SCR_CCP_dom	Domain
IPR000859	CUB_dom	Domain
IPR035914	Sperma_CUB_dom_sf	Homologous_superfamily
IPR035976	Sushi/SCR/CCP_sf	Homologous_superfamily
IPR051277	SEZ6_CSMD_C4BPB_Regulators	Family

Pfam: PF00084, PF00431

UniProt features (48 total): disulfide bond 13, glycosylation site 9, domain 8, splice variant 6, sequence conflict 3, region of interest 2, topological domain 2, signal peptide 1, chain 1, compositionally biased region 1, transmembrane region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6UXD5-F1	72.66	0.23

Functional residue map

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

Disulfide bonds (13): 173–202, 290–330, 316–345, 349–376, 464–508, 491–523, 527–553, 644–686, 672–699, 705–747, 733–764, 771–813, 799–828

Glycosylation sites (9): 176, 222, 247, 332, 355, 373, 473, 517, 641

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 146 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, GOBP_HINDBRAIN_DEVELOPMENT, WANG_CLIM2_TARGETS_UP, GOBP_METENCEPHALON_DEVELOPMENT, GOBP_BEHAVIOR, GOBP_ADULT_BEHAVIOR, GOBP_ADULT_LOCOMOTORY_BEHAVIOR, RODRIGUES_NTN1_TARGETS_DN, PATIL_LIVER_CANCER, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A5, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_CEREBELLAR_CORTEX_DEVELOPMENT, chr16p11, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, GOBP_HEAD_DEVELOPMENT

GO Biological Process (3): adult locomotory behavior (GO:0008344), cerebellar Purkinje cell layer development (GO:0021680), synapse maturation (GO:0060074)

GO Molecular Function (0):

GO Cellular Component (5): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), neuronal cell body (GO:0043025), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
locomotory behavior	1
adult behavior	1
cerebellar cortex development	1
anatomical structure development	1
nervous system development	1
developmental maturation	1
synapse organization	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane	1
cell periphery	1
somatodendritic compartment	1
cell body	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2091 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SEZ6L2	ASPHD1	Q5U4P2	796
SEZ6L2	KCTD13	Q8WZ19	724
SEZ6L2	HIRIP3	Q9BW71	703
SEZ6L2	DOC2A	Q14183	675
SEZ6L2	TAOK2	Q9UL54	633
SEZ6L2	KIF22	Q14807	631
SEZ6L2	C16orf54	Q6UWD8	609
SEZ6L2	YPEL3	P61236	608
SEZ6L2	PRRT2	Q7Z6L0	597
SEZ6L2	FIMP1	Q96LL3	592
SEZ6L2	BACE2	Q9Y5Z0	589
SEZ6L2	TMEM219	Q86XT9	588
SEZ6L2	INO80E	Q8NBZ0	583
SEZ6L2	CDIPT	O14735	577
SEZ6L2	PAGR1	Q9BTK6	572

IntAct

43 interactions, top by confidence:

A	B	Type	Score
PICK1	ILVBL	psi-mi:“MI:0914”(association)	0.530
FCN1	POTEF	psi-mi:“MI:0914”(association)	0.530
LGALS1	PODXL	psi-mi:“MI:0914”(association)	0.530
TAFA4	NRP1	psi-mi:“MI:0914”(association)	0.530
SERPINA12	TSPAN6	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
LGALS3	PODXL	psi-mi:“MI:0914”(association)	0.530
LGALS1	LAMA5	psi-mi:“MI:0914”(association)	0.530
IL1R2	EXOC5	psi-mi:“MI:0914”(association)	0.530
ETV5	SEZ6L2	psi-mi:“MI:0915”(physical association)	0.370
SEZ6L2	FOXA1	psi-mi:“MI:0915”(physical association)	0.370
TK1	SEZ6L2	psi-mi:“MI:0915”(physical association)	0.370
SEZ6L2	UNG	psi-mi:“MI:0915”(physical association)	0.370
SEZ6L2	OASL	psi-mi:“MI:0915”(physical association)	0.370
LGALS8	SLC22A23	psi-mi:“MI:0914”(association)	0.350
IL1R2	QSOX1	psi-mi:“MI:0914”(association)	0.350
RAMP3	GOLIM4	psi-mi:“MI:0914”(association)	0.350
TMPRSS13	TOR1A	psi-mi:“MI:0914”(association)	0.350
SFTPC	TMEM131L	psi-mi:“MI:0914”(association)	0.350
CFC1	POTEF	psi-mi:“MI:0914”(association)	0.350
B3GALT4		psi-mi:“MI:0914”(association)	0.350
LGALS9	LGALS8	psi-mi:“MI:0914”(association)	0.350
SDF2L1	MANBA	psi-mi:“MI:0914”(association)	0.350
CBLN4	AGRN	psi-mi:“MI:0914”(association)	0.350
SIRPD	ADAM10	psi-mi:“MI:0914”(association)	0.350
FZD7	EI24	psi-mi:“MI:0914”(association)	0.350
MICA	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
VSIG4	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
RAMP3	MGST3	psi-mi:“MI:0914”(association)	0.350

BioGRID (50): SEZ6L2 (Affinity Capture-MS), SEZ6L2 (Affinity Capture-MS), SEZ6L2 (Affinity Capture-MS), SEZ6L2 (Affinity Capture-MS), SEZ6L2 (Affinity Capture-MS), SEZ6L2 (Affinity Capture-MS), SEZ6L2 (Affinity Capture-MS), SEZ6L2 (Affinity Capture-MS), SEZ6L2 (Protein-RNA), SEZ6L2 (Two-hybrid), SEZ6L2 (Affinity Capture-MS), SEZ6L2 (Affinity Capture-MS), SEZ6L2 (Affinity Capture-MS), SEZ6L2 (Affinity Capture-MS), SEZ6L2 (Affinity Capture-MS)

ESM2 similar proteins: A0JNA2, A4FUY1, C0HL12, O14514, O19131, O60241, O75325, P0C5H6, P15151, P32506, P32507, P70225, P98095, Q05BQ1, Q13477, Q14626, Q14CZ8, Q29RN8, Q3UHD1, Q4V9Z5, Q53EL9, Q5DRQ8, Q5R7Y0, Q5RF19, Q5STE3, Q63148, Q64385, Q6AX42, Q6BAA4, Q6MZW2, Q6UWL2, Q6UWL6, Q6UXD5, Q6WN34, Q7TSK2, Q7TSU7, Q8BHA1, Q8BQC3, Q8CGM1, Q8IVU1

Diamond homologs: A0A182C2Z2, A0JNA2, B3EX01, E7FEC4, O08569, O19124, O57254, O62685, O62837, O88174, P08174, P0DTN2, P15529, P21115, P24083, P24084, P36980, P49457, P79138, P81475, Q01227, Q07968, Q28085, Q29RN8, Q4V9Z5, Q53EL9, Q5R4D0, Q5R8M2, Q5VX71, Q60736, Q63515, Q6AX42, Q6P1D5, Q6UXD5, Q7TSK2, Q7Z408, Q8BH32, Q9BYH1, Q9JF44, Q9W332

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	111
Likely benign	15
Benign	9

Top pathogenic / likely-pathogenic (0)

SpliceAI

2155 predictions. Top by Δscore:

Variant	Effect	Δscore
16:29872181:GCTTA:G	donor_loss	1.0000
16:29872182:CTTAC:C	donor_loss	1.0000
16:29872183:TTAC:T	donor_loss	1.0000
16:29872184:T:TG	donor_loss	1.0000
16:29872185:A:AC	donor_gain	1.0000
16:29872185:AC:A	donor_gain	1.0000
16:29872185:ACC:A	donor_gain	1.0000
16:29872186:C:CC	donor_gain	1.0000
16:29872186:CC:C	donor_gain	1.0000
16:29872186:CCC:C	donor_gain	1.0000
16:29872279:GAAGC:G	acceptor_gain	1.0000
16:29872280:AAGC:A	acceptor_gain	1.0000
16:29872281:AGC:A	acceptor_gain	1.0000
16:29872282:GC:G	acceptor_gain	1.0000
16:29872283:CC:C	acceptor_gain	1.0000
16:29872284:C:CC	acceptor_gain	1.0000
16:29872284:C:T	acceptor_gain	1.0000
16:29872404:CTTA:C	donor_gain	1.0000
16:29872407:A:AC	donor_gain	1.0000
16:29872408:C:CA	donor_gain	1.0000
16:29872408:CT:C	donor_gain	1.0000
16:29872408:CTT:C	donor_gain	1.0000
16:29872408:CTTG:C	donor_gain	1.0000
16:29872408:CTTGG:C	donor_gain	1.0000
16:29872522:GGTCA:G	acceptor_gain	1.0000
16:29872523:GTCA:G	acceptor_gain	1.0000
16:29872524:TCA:T	acceptor_gain	1.0000
16:29872525:CA:C	acceptor_gain	1.0000
16:29872525:CAC:C	acceptor_gain	1.0000
16:29872527:C:CC	acceptor_gain	1.0000

AlphaMissense

5888 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:29873244:G:C	C828W	1.000
16:29873245:C:G	C828S	1.000
16:29873245:C:T	C828Y	1.000
16:29873246:A:G	C828R	1.000
16:29873246:A:T	C828S	1.000
16:29873265:C:A	W821C	1.000
16:29873265:C:G	W821C	1.000
16:29873266:C:G	W821S	1.000
16:29873267:A:G	W821R	1.000
16:29873267:A:T	W821R	1.000
16:29873289:A:C	C813W	1.000
16:29873290:C:A	C813F	1.000
16:29873290:C:G	C813S	1.000
16:29873290:C:T	C813Y	1.000
16:29873291:A:G	C813R	1.000
16:29873291:A:T	C813S	1.000
16:29873309:C:A	G807C	1.000
16:29873331:G:C	C799W	1.000
16:29873332:C:A	C799F	1.000
16:29873332:C:G	C799S	1.000
16:29873332:C:T	C799Y	1.000
16:29873333:A:G	C799R	1.000
16:29873333:A:T	C799S	1.000
16:29873338:A:C	F797C	1.000
16:29873344:A:G	L795P	1.000
16:29873389:C:T	G780D	1.000
16:29873415:G:C	C771W	1.000
16:29873416:C:G	C771S	1.000
16:29873416:C:T	C771Y	1.000
16:29873417:A:G	C771R	1.000

dbSNP variants (sampled 300 via entrez): RS1000141771 (16:29886062 A>T), RS1000360762 (16:29900402 G>A,T), RS1000448850 (16:29894753 C>A,T), RS1000513429 (16:29885717 G>A,T), RS1000515293 (16:29897083 C>A,T), RS1000572374 (16:29887467 A>C,T), RS1000617322 (16:29890902 C>T), RS1000864837 (16:29877390 C>G,T), RS1000984083 (16:29900259 C>A), RS1001002821 (16:29891141 C>G), RS1001114971 (16:29884230 C>G,T), RS1001270403 (16:29872627 G>A,T), RS1001409638 (16:29874184 A>G), RS1001604102 (16:29881826 TAC>T), RS1001633766 (16:29881409 G>A,C)

Disease associations

OMIM: gene MIM:616667 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (1): Microphthalmia-anophthalmia-coloboma (Orphanet:98555)

HPO phenotypes

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

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST000327_2	Anthropometric traits	2.000000e-06
GCST001694_9	Response to taxane treatment (paclitaxel)	1.000000e-06
GCST001795_13	Systemic lupus erythematosus	7.000000e-06
GCST002539_82	Schizophrenia	5.000000e-11
GCST004521_236	Autism spectrum disorder or schizophrenia	4.000000e-10
GCST004946_142	Schizophrenia	8.000000e-13
GCST006803_23	Schizophrenia	6.000000e-13
GCST007293_15	Body fat distribution (arm fat ratio)	6.000000e-06
GCST007293_81	Body fat distribution (arm fat ratio)	4.000000e-08
GCST007328_16	Alcohol consumption (drinks per week)	3.000000e-15
GCST008522_35	Bitter alcoholic beverage consumption	3.000000e-11
GCST008757_25	Alcohol consumption	7.000000e-11

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004302	anthropometric measurement
EFO:0004341	body fat distribution
EFO:0010092	bitter alcoholic beverage consumption measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression, affects cotreatment, decreases expression	3
Valproic Acid	affects expression, increases expression	3
Arsenic	increases abundance, increases expression, affects cotreatment, decreases expression	2
Calcitriol	decreases expression, increases expression	2
Cisplatin	affects response to substance, decreases expression, affects reaction	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tetrachlorodibenzodioxin	increases expression	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
bisphenol A	decreases expression	1
sodium arsenate	increases abundance, increases expression	1
beta-methylcholine	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
entinostat	increases expression	1
bazedoxifene	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	affects expression	1
dorsomorphin	affects cotreatment, decreases 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
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Caffeine	increases phosphorylation	1
Doxorubicin	decreases expression	1
Estradiol	increases expression, affects cotreatment	1
Formaldehyde	increases expression	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Ribonucleotides	affects binding	1

Cellosaurus cell lines

1 cell lines: 1 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E4Q1	KOLF2.1J SEZ6L2 28.6kbdel DEL/DEL	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

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