BLOC1S2

Summary

BLOC1S2 (biogenesis of lysosomal organelles complex 1 subunit 2, HGNC:20984) is a protein-coding gene on chromosome 10q24.31, encoding Biogenesis of lysosome-related organelles complex 1 subunit 2 (Q6QNY1). Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes.

This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 282991 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 20 total
• MANE Select transcript: NM_173809

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20984
Approved symbol	BLOC1S2
Name	biogenesis of lysosomal organelles complex 1 subunit 2
Location	10q24.31
Locus type	gene with protein product
Status	Approved
Aliases	MGC10120, FLJ30135, BLOS2, BORCS2
Ensembl gene	ENSG00000196072
Ensembl biotype	protein_coding
OMIM	609768
Entrez	282991

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 12 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000361832, ENST00000370372, ENST00000441611, ENST00000579542, ENST00000614731, ENST00000618916, ENST00000881082, ENST00000881083, ENST00000881085, ENST00000881087, ENST00000881088, ENST00000922810, ENST00000944445

RefSeq mRNA: 6 — MANE Select: NM_173809 NM_001001342, NM_001282436, NM_001282437, NM_001282438, NM_001282439, NM_173809

CCDS: CCDS73179, CCDS7490

Canonical transcript exons

ENST00000370372 — 5 exons

Exon	Start	End
ENSE00001099863	100280124	100280228
ENSE00001435217	100286605	100286680
ENSE00001452504	100273293	100275493
ENSE00002507469	100286097	100286213
ENSE00003511662	100280934	100281053

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 97.74.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.5251 / max 335.8124, expressed in 1807 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
111037	31.7230	1806
111036	1.0381	627
111034	0.9452	463
111035	0.8187	465

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibialis anterior	UBERON:0001385	97.74	gold quality
upper arm skin	UBERON:0004263	97.36	gold quality
pons	UBERON:0000988	96.65	gold quality
substantia nigra pars compacta	UBERON:0001965	95.76	gold quality
Brodmann (1909) area 46	UBERON:0006483	95.56	gold quality
substantia nigra pars reticulata	UBERON:0001966	95.30	gold quality
upper leg skin	UBERON:0004262	95.28	gold quality
skin of hip	UBERON:0001554	95.10	gold quality
ileal mucosa	UBERON:0000331	95.06	gold quality
mammalian vulva	UBERON:0000997	95.00	gold quality
oral cavity	UBERON:0000167	94.90	gold quality
lateral nuclear group of thalamus	UBERON:0002736	94.90	gold quality
biceps brachii	UBERON:0001507	94.87	gold quality
dorsal root ganglion	UBERON:0000044	94.79	gold quality
substantia nigra	UBERON:0002038	94.52	gold quality
deltoid	UBERON:0001476	94.49	gold quality
postcentral gyrus	UBERON:0002581	94.34	gold quality
hypothalamus	UBERON:0001898	94.30	gold quality
entorhinal cortex	UBERON:0002728	94.26	gold quality
midbrain	UBERON:0001891	94.25	gold quality
cortical plate	UBERON:0005343	94.15	gold quality
superior vestibular nucleus	UBERON:0007227	94.11	gold quality
kidney epithelium	UBERON:0004819	94.08	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	94.07	gold quality
superior frontal gyrus	UBERON:0002661	93.91	gold quality
Brodmann (1909) area 23	UBERON:0013554	93.83	gold quality
quadriceps femoris	UBERON:0001377	93.77	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.73	gold quality
anterior cingulate cortex	UBERON:0009835	93.70	gold quality
parietal lobe	UBERON:0001872	93.64	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.80

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

78 targeting BLOC1S2, 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-3613-3P	100.00	76.36	7965
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-26A-5P	99.78	73.52	2303

Literature-anchored findings (GeneRIF, showing 4)

• Biogenesis of lysosome-related organelles complex-1 (BLOC-1) subunit 2 (BLOS2).BLOC-1 is required for the biogenesis of melanosomes and platelet dense granules. (PMID:15102850)
• BLOC1S2 protein is widely expressed in normal tissue as well as in malignant tumors with a tendency towards lower expression levels in certain subtypes of tumors. Over-expression of BLOC1S2 in the presence or absence of HIPPI does not induce apoptosis. (PMID:18188704)
• we have explored ways of efficiently gathering high-quality information about candidate binding partners fob bloc1s2 (PMID:19083121)
• WASH is a bimodular protein and a component of the BLOC-1 complex in which the C terminus is involved in Arp2/3-mediated actin nucleation, whereas the N-terminal portion is required for its regulation and localization in the cells (PMID:20308062)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	bloc1s2	ENSDARG00000046081
mus_musculus	Bloc1s2	ENSMUSG00000057506
rattus_norvegicus	Bloc1s2	ENSRNOG00000012684
drosophila_melanogaster	Blos2	FBGN0036118
caenorhabditis_elegans		WBGENE00022251

Paralogs (2): RETSAT (ENSG00000042445), PYROXD2 (ENSG00000119943)

Protein

Protein identifiers

Biogenesis of lysosome-related organelles complex 1 subunit 2 — Q6QNY1 (reviewed: Q6QNY1)

Alternative names: Centrosome-associated protein

All UniProt accessions (4): A0A087X1N6, F1T0F0, Q6QNY1, J3QRU7

UniProt curated annotations — full annotation on UniProt →

Function. Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor. May play a role in cell proliferation.

Subunit / interactions. Component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) composed of BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. Octamer composed of one copy each BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. Interacts directly with BLOC1S1, BLOC1S3, BLOC1S4, BLOC1S5 and SNAPIN. The BLOC-1 complex associates with the AP-3 protein complex and membrane protein cargos. Component of the BLOC-one-related complex (BORC) which is composed of BLOC1S1, BLOC1S2, BORCS5, BORCS6, BORCS7, BORCS8, KXD1 and SNAPIN. Interacts with gamma-tubulin. Interacts with IFT57.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Lysosome membrane.

Tissue specificity. Isoform 1 and isoform 2 are widely expressed. Expressed in various malignant tumor tissues (at protein level).

Similarity. Belongs to the BLOC1S2 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6QNY1-1	1, Ceap-16	yes
Q6QNY1-2	2, Ceap-11

RefSeq proteins (6): NP_001001342, NP_001269365, NP_001269366, NP_001269367, NP_001269368, NP_776170* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019269	BLOC1_su2	Family

Pfam: PF10046

UniProt features (8 total): initiator methionine 1, chain 1, region of interest 1, coiled-coil region 1, compositionally biased region 1, modified residue 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6QNY1-F1	87.06	0.75

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): 2

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 191 (showing top): GOBP_SYNAPTIC_VESICLE_LOCALIZATION, GOBP_AXO_DENDRITIC_TRANSPORT, GOBP_VESICLE_LOCALIZATION, GOCC_VACUOLAR_MEMBRANE, GOBP_VESICLE_ORGANIZATION, GOBP_SYNAPTIC_VESICLE_CYTOSKELETAL_TRANSPORT, GOBP_CELLULAR_PIGMENTATION, GOBP_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_NEUROGENESIS, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_ORGANELLE_TRANSPORT_ALONG_MICROTUBULE, GOBP_MICROTUBULE_NUCLEATION, GOBP_MITOCHONDRIAL_TRANSPORT, GOCC_MICROTUBULE_ORGANIZING_CENTER, EFC_Q6

GO Biological Process (15): microtubule nucleation (GO:0007020), anterograde axonal transport (GO:0008089), positive regulation of cell population proliferation (GO:0008284), extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625), endosomal transport (GO:0016197), neuron projection development (GO:0031175), lysosome localization (GO:0032418), melanosome organization (GO:0032438), positive regulation of DNA-templated transcription (GO:0045893), anterograde synaptic vesicle transport (GO:0048490), regulation of endosome size (GO:0051036), platelet dense granule organization (GO:0060155), regulation of lysosome size (GO:0062196), organelle transport along microtubule (GO:0072384), mitochondrial outer membrane permeabilization (GO:0097345)

GO Molecular Function (2): gamma-tubulin binding (GO:0043015), protein binding (GO:0005515)

GO Cellular Component (14): gamma-tubulin complex (GO:0000930), nucleus (GO:0005634), mitochondrion (GO:0005739), centrosome (GO:0005813), cytosol (GO:0005829), BLOC-1 complex (GO:0031083), cytoplasmic side of lysosomal membrane (GO:0098574), BORC complex (GO:0099078), axon cytoplasm (GO:1904115), cytoplasm (GO:0005737), lysosome (GO:0005764), lysosomal membrane (GO:0005765), cytoskeleton (GO:0005856), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
microtubule organizing center	2
intracellular membrane-bounded organelle	2
cytoplasm	2
microtubule cytoskeleton organization	1
microtubule polymerization	1
axonal transport	1
axon cytoplasm	1
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
extrinsic apoptotic signaling pathway	1
vesicle-mediated transport	1
intracellular transport	1
neuron development	1
plasma membrane bounded cell projection organization	1
vacuolar localization	1
pigment granule organization	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
anterograde axonal transport	1
synaptic vesicle transport along microtubule	1
regulation of vesicle size	1
secretory granule organization	1
regulation of cellular component size	1
transport along microtubule	1
establishment of organelle localization	1
apoptotic signaling pathway	1
positive regulation of mitochondrial membrane permeability involved in apoptotic process	1
tubulin binding	1
binding	1
protein-containing complex	1
centriole	1
BLOC complex	1
lysosomal membrane	1
cytoplasmic side of membrane	1
intracellular protein-containing complex	1
axon	1
neuron projection cytoplasm	1

Protein interactions and networks

STRING

1260 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BLOC1S2	SNAPIN	O95295	999
BLOC1S2	BLOC1S1	P78537	999
BLOC1S2	BLOC1S3	Q6QNY0	999
BLOC1S2	BLOC1S6	Q9UL45	999
BLOC1S2	DTNBP1	Q96EV8	996
BLOC1S2	KXD1	Q9BQD3	989
BLOC1S2	BORCS7	Q96B45	987
BLOC1S2	BORCS5	Q969J3	986
BLOC1S2	BORCS6	Q96GS4	983
BLOC1S2	BORCS8	Q96FH0	973
BLOC1S2	BLOC1S4	Q9NUP1	871
BLOC1S2	BLOC1S5	Q8TDH9	832
BLOC1S2	WASHC1	A8K0Z3	693
BLOC1S2	HPS6	Q86YV9	678
BLOC1S2	ARL8B	Q9NVJ2	571

IntAct

169 interactions, top by confidence:

A	B	Type	Score
LAMTOR4	LAMTOR5	psi-mi:“MI:0914”(association)	0.960
DTNBP1	SNAPIN	psi-mi:“MI:0914”(association)	0.900
SNAPIN	BLOC1S2	psi-mi:“MI:0915”(physical association)	0.830
BLOC1S2	SNAPIN	psi-mi:“MI:0915”(physical association)	0.830
BLOC1S2	SNAPIN	psi-mi:“MI:0914”(association)	0.830
BLOC1S1	SNAPIN	psi-mi:“MI:0914”(association)	0.810
BLOC1S1	SNAPIN	psi-mi:“MI:0915”(physical association)	0.810
OSBPL9	VAPB	psi-mi:“MI:0914”(association)	0.790
WASHC3	BLOC1S2	psi-mi:“MI:0915”(physical association)	0.740
BLOC1S2	WASHC3	psi-mi:“MI:0915”(physical association)	0.740
BLOC1S2	TRIML2	psi-mi:“MI:0915”(physical association)	0.740
BLOC1S2	BLOC1S5	psi-mi:“MI:0915”(physical association)	0.700
BLOC1S1	BLOC1S2	psi-mi:“MI:0915”(physical association)	0.700
SNX7	SNX4	psi-mi:“MI:0914”(association)	0.670
IKBIP	SNAPIN	psi-mi:“MI:0914”(association)	0.670
BLOC1S6	SNAPIN	psi-mi:“MI:0914”(association)	0.640
COG7	ILVBL	psi-mi:“MI:0914”(association)	0.640
BLOC1S2	FAM9B	psi-mi:“MI:0915”(physical association)	0.560
FAM9B	BLOC1S2	psi-mi:“MI:0915”(physical association)	0.560
CCHCR1	BLOC1S2	psi-mi:“MI:0915”(physical association)	0.560
BLOC1S2	PICK1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (125): BLOC1S2 (Two-hybrid), BLOC1S2 (Affinity Capture-MS), BLOC1S2 (Affinity Capture-MS), BLOC1S2 (Affinity Capture-MS), BLOC1S2 (Affinity Capture-MS), BLOC1S2 (Affinity Capture-MS), BLOC1S2 (Co-fractionation), BLOC1S2 (Affinity Capture-MS), BLOC1S2 (Affinity Capture-MS), BLOC1S2 (Affinity Capture-MS), BLOC1S2 (Affinity Capture-MS), BLOC1S2 (Affinity Capture-MS), BLOC1S2 (Affinity Capture-MS), BLOC1S2 (Affinity Capture-MS), BLOC1S2 (Affinity Capture-MS)

ESM2 similar proteins: A4FUD6, B5KFI0, D3ZKU7, O43752, O55102, O75486, P60228, P60229, P78537, Q05AY2, Q05B58, Q08DP2, Q08DU8, Q0VFD8, Q1LUA8, Q2NKW0, Q32L03, Q32WR5, Q3B8M3, Q3SZ60, Q3T102, Q4R6G8, Q4R7C8, Q5R6Q2, Q5R7L8, Q5R8K9, Q5R8N4, Q5ZJA9, Q5ZL19, Q5ZLA5, Q63635, Q641X8, Q66KB9, Q6I9Y2, Q6P643, Q6P7L9, Q6QNY1, Q7SZ78, Q7TMY4, Q7Z3J2

Diamond homologs: A7RZS0, Q32WR5, Q4R7C8, Q54Y67, Q66KB9, Q6QNY1, Q95XD3, Q9CWG9, Q9VTE0, F4K657

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
BLOC1S2	“form complex”	BLOC-1	binding
TFEB	“up-regulates quantity by expression”	BLOC1S2	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 105 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
trans-Golgi Network Vesicle Budding	7	29.1×	1e-06
Golgi Associated Vesicle Biogenesis	7	23.0×	3e-06
Translocation of SLC2A4 (GLUT4) to the plasma membrane	5	12.7×	2e-03
Vesicle-mediated transport	11	6.3×	1e-04
Membrane Trafficking	10	6.1×	3e-04
RHO GTPase cycle	6	5.9×	9e-03

GO biological processes:

GO term	Partners	Fold	FDR
anterograde synaptic vesicle transport	8	85.3×	9e-12
melanosome organization	8	55.8×	2e-10
lysosome localization	9	51.0×	2e-11
anterograde axonal transport	8	50.0×	3e-10
positive regulation of TORC1 signaling	5	15.9×	6e-04
exocytosis	8	13.1×	1e-05
neuron projection development	7	9.2×	5e-04
protein transport	13	6.1×	1e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1040 predictions. Top by Δscore:

Variant	Effect	Δscore
10:100280932:A:AC	donor_gain	1.0000
10:100280933:C:CC	donor_gain	1.0000
10:100280933:CATTT:C	donor_gain	1.0000
10:100281054:C:CC	acceptor_gain	1.0000
10:100281055:T:C	acceptor_gain	1.0000
10:100281055:T:TC	acceptor_gain	1.0000
10:100281062:T:TC	acceptor_gain	1.0000
10:100286582:T:TA	donor_gain	1.0000
10:100280319:T:A	donor_gain	0.9900
10:100280396:G:C	donor_gain	0.9900
10:100280430:A:AC	donor_gain	0.9900
10:100280430:AGTGT:A	donor_gain	0.9900
10:100280431:G:C	donor_gain	0.9900
10:100280441:T:C	donor_gain	0.9900
10:100280448:ATTTT:A	donor_gain	0.9900
10:100280489:T:A	donor_gain	0.9900
10:100280933:CAT:C	donor_gain	0.9900
10:100281052:GGCT:G	acceptor_loss	0.9900
10:100281053:GCT:G	acceptor_loss	0.9900
10:100286587:C:A	donor_gain	0.9900
10:100276076:TTTC:T	donor_gain	0.9800
10:100276077:TTCT:T	donor_gain	0.9800
10:100280093:A:AC	donor_gain	0.9800
10:100280122:AC:A	donor_gain	0.9800
10:100280123:CC:C	donor_gain	0.9800
10:100280127:G:C	donor_gain	0.9800
10:100280495:A:AC	donor_gain	0.9800
10:100280496:C:CC	donor_gain	0.9800
10:100280933:CA:C	donor_gain	0.9800
10:100281049:GGTGG:G	acceptor_gain	0.9800

AlphaMissense

926 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:100280156:G:T	A122D	1.000
10:100281032:A:G	L65P	1.000
10:100280136:A:G	S129P	0.999
10:100280147:A:G	L125S	0.999
10:100280157:C:G	A122P	0.999
10:100280160:C:G	A121P	0.999
10:100280168:A:G	L118P	0.999
10:100280168:A:T	L118H	0.999
10:100280207:A:G	L105P	0.999
10:100280975:G:T	A84D	0.999
10:100280976:C:G	A84P	0.999
10:100280987:A:G	M80T	0.999
10:100281016:A:C	N70K	0.999
10:100281016:A:T	N70K	0.999
10:100281029:A:G	L66P	0.999
10:100286102:A:G	L56P	0.999
10:100286114:A:G	L52P	0.999
10:100275491:C:G	A134P	0.998
10:100280126:A:G	L132P	0.998
10:100280131:T:A	K130N	0.998
10:100280131:T:G	K130N	0.998
10:100280142:C:G	A127P	0.998
10:100280219:A:G	L101P	0.998
10:100280987:A:C	M80R	0.998
10:100280997:A:C	Y77D	0.998
10:100280997:A:G	Y77H	0.998
10:100280998:C:A	K76N	0.998
10:100280998:C:G	K76N	0.998
10:100281011:A:G	L72P	0.998
10:100281018:T:C	N70D	0.998

dbSNP variants (sampled 300 via entrez): RS1000309972 (10:100279509 C>A,T), RS1000643455 (10:100276090 G>A), RS1001024342 (10:100275775 T>C), RS1001077856 (10:100285279 A>G), RS1001607016 (10:100282827 A>G), RS1002314162 (10:100274621 T>C), RS1002496059 (10:100278883 C>T), RS1002653194 (10:100287186 T>A,C), RS1002662659 (10:100273060 C>G), RS1002693628 (10:100280435 C>A,T), RS1002730978 (10:100285912 A>C), RS1002968794 (10:100287562 G>GCCCTC), RS1003061861 (10:100281632 G>A), RS1003170560 (10:100286933 C>T), RS1003490360 (10:100279748 G>A)

Disease associations

OMIM: gene MIM:609768 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010002_298	Refractive error	3.000000e-22

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	affects expression, decreases methylation, increases expression	6
Benzo(a)pyrene	increases expression	5
sodium arsenite	decreases expression, increases abundance, increases expression	3
Air Pollutants	increases abundance, decreases expression, affects expression	2
Arsenic	increases abundance, increases expression, affects methylation	2
Cisplatin	decreases expression, increases expression	2
Tretinoin	increases expression	2
Cyclosporine	increases expression	2
shuanghuang shengbai	increases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
CGP 52608	increases reaction, affects binding	1
perfluoro-n-nonanoic acid	increases expression	1
deguelin	increases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	decreases expression	1
jinfukang	decreases expression	1
picoxystrobin	increases expression	1
NSC668394	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Acetaminophen	increases expression	1
Camptothecin	increases expression	1
Cannabidiol	increases expression	1
Carbamazepine	affects expression	1
Demecolcine	increases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Ivermectin	decreases expression	1
Lead	increases expression	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects expression, increases abundance	1

Clinical trials (associated diseases)

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