WASHC2A

Summary

WASHC2A (WASH complex subunit 2A, HGNC:23416) is a protein-coding gene on chromosome 10q11.23, encoding WASH complex subunit 2A (Q641Q2). Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes inhibits WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization and is involved in the fission of tubule….

Predicted to enable phosphatidylinositol phosphate binding activity and retromer complex binding activity. Involved in protein localization to endosome. Located in cytosol and nucleolus.

Source: NCBI Gene 387680 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 137 total
• MANE Select transcript: NM_001005751

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23416
Approved symbol	WASHC2A
Name	WASH complex subunit 2A
Location	10q11.23
Locus type	gene with protein product
Status	Approved
Aliases	bA56A21.1, bA98I6.1, FLJ10824
Ensembl gene	ENSG00000099290
Ensembl biotype	protein_coding
Entrez	387680

Gene structure

Transcript identifiers

Ensembl transcripts: 93 — 90 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000282633, ENST00000314664, ENST00000351071, ENST00000399339, ENST00000434114, ENST00000454806, ENST00000476514, ENST00000492914, ENST00000611324, ENST00000879347, ENST00000879348, ENST00000879349, ENST00000879350, ENST00000879351, ENST00000879352, ENST00000879353, ENST00000879354, ENST00000879355, ENST00000879356, ENST00000879357, ENST00000879358, ENST00000879359, ENST00000879360, ENST00000879361, ENST00000879362, ENST00000879363, ENST00000879364, ENST00000879365, ENST00000879366, ENST00000879367, ENST00000879368, ENST00000879369, ENST00000879370, ENST00000879371, ENST00000879372, ENST00000914877, ENST00000914878, ENST00000914879, ENST00000914880, ENST00000914881, ENST00000914882, ENST00000914883, ENST00000914884, ENST00000914885, ENST00000914886, ENST00000914887, ENST00000957541, ENST00000957542, ENST00000957543, ENST00000957544, ENST00000957545, ENST00000957546, ENST00000957547, ENST00000957548, ENST00000957549, ENST00000957550, ENST00000957551, ENST00000957552, ENST00000957553, ENST00000957554, ENST00000957555, ENST00000957556, ENST00000957557, ENST00000957558, ENST00000957559, ENST00000957560, ENST00000957561, ENST00000957562, ENST00000957563, ENST00000957564, ENST00000957565, ENST00000957566, ENST00000957567, ENST00000957568, ENST00000957569, ENST00000957570, ENST00000957571, ENST00000957572, ENST00000957573, ENST00000957574, ENST00000957575, ENST00000957576, ENST00000957577, ENST00000957578, ENST00000957579, ENST00000957580, ENST00000957581, ENST00000957582, ENST00000957583, ENST00000957584, ENST00000957585, ENST00000957586, ENST00000957587

RefSeq mRNA: 3 — MANE Select: NM_001005751 NM_001005751, NM_001291398, NM_001330102

CCDS: CCDS41527, CCDS76303, CCDS81463

Canonical transcript exons

ENST00000282633 — 31 exons

Exon	Start	End
ENSE00002311372	50067954	50068008
ENSE00002431361	50129419	50130039
ENSE00002484607	50069547	50069711
ENSE00002485950	50130901	50131078
ENSE00002512205	50132806	50133509
ENSE00003378576	50068105	50068227
ENSE00003463422	50078675	50078737
ENSE00003465717	50106334	50106465
ENSE00003472259	50092162	50092233
ENSE00003479627	50119587	50119769
ENSE00003482741	50099978	50100064
ENSE00003501499	50126057	50126179
ENSE00003516182	50090776	50090886
ENSE00003517778	50127160	50127222
ENSE00003520774	50093860	50093917
ENSE00003554908	50084072	50084165
ENSE00003563655	50104042	50104143
ENSE00003568442	50080758	50080931
ENSE00003571203	50085497	50085558
ENSE00003573896	50087275	50087322
ENSE00003582153	50095599	50095778
ENSE00003595056	50113895	50113997
ENSE00003599950	50127583	50127795
ENSE00003603594	50110101	50110270
ENSE00003613701	50095148	50095207
ENSE00003634211	50125113	50125241
ENSE00003654308	50125369	50125449
ENSE00003670464	50093268	50093386
ENSE00003673722	50117906	50118058
ENSE00003681106	50091431	50091518
ENSE00003691776	50097675	50097802

Expression profiles

Bgee: expression breadth ubiquitous, 144 present calls, max score 94.73.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.8853 / max 1079.2216, expressed in 1821 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
104900	28.8853	1821

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	94.73	gold quality
sural nerve	UBERON:0015488	94.49	gold quality
right atrium auricular region	UBERON:0006631	94.13	gold quality
monocyte	CL:0000576	92.15	gold quality
leukocyte	CL:0000738	91.97	gold quality
rectum	UBERON:0001052	91.70	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.38	gold quality
endometrium	UBERON:0001295	91.37	gold quality
corpus callosum	UBERON:0002336	91.33	gold quality
lymph node	UBERON:0000029	91.16	gold quality
mucosa of stomach	UBERON:0001199	91.14	gold quality
bone marrow cell	CL:0002092	91.06	gold quality
bone element	UBERON:0001474	91.06	gold quality
bone marrow	UBERON:0002371	91.06	gold quality
colonic epithelium	UBERON:0000397	91.02	gold quality
right adrenal gland cortex	UBERON:0035827	90.95	gold quality
granulocyte	CL:0000094	90.86	gold quality
transverse colon	UBERON:0001157	90.86	gold quality
right adrenal gland	UBERON:0001233	90.76	gold quality
stromal cell of endometrium	CL:0002255	90.59	gold quality
small intestine Peyer’s patch	UBERON:0003454	90.55	gold quality
urinary bladder	UBERON:0001255	90.42	gold quality
vermiform appendix	UBERON:0001154	90.41	gold quality
right lung	UBERON:0002167	90.39	gold quality
small intestine	UBERON:0002108	90.25	gold quality
heart	UBERON:0000948	90.18	gold quality
intestine	UBERON:0000160	90.17	gold quality
colon	UBERON:0001155	90.14	gold quality
ovary	UBERON:0000992	89.93	gold quality
left adrenal gland	UBERON:0001234	89.89	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.81

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting WASHC2A, 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-4282	99.99	75.36	6408
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-4639-5P	99.81	67.37	1028
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-1825	99.72	68.11	1089
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-4318	99.38	66.94	1505
HSA-MIR-4641	99.28	66.64	744
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-330-5P	98.73	67.63	1788
HSA-MIR-8060	98.61	66.93	1187
HSA-MIR-326	98.25	66.44	1565
HSA-MIR-1262	98.17	66.52	757
HSA-MIR-4701-3P	98.17	66.25	788
HSA-MIR-6736-5P	98.17	66.43	760
HSA-MIR-4432	97.80	67.87	705
HSA-MIR-7154-3P	97.65	65.02	985

Literature-anchored findings (GeneRIF, showing 3)

• SNX27 interaction with FAM21 is required for the precise localization of SNX27 at an endosomal subdomain. (PMID:26956659)
• Study reports that nuclear IGF1R associates with advanced tumor stage and is recruited selectively to regulatory regions of chromatin including JUN and FAM21A promoters. JUN and FAM21A identified as mediators of cell survival and IGF-induced migration, properties that tumors require to attain advanced stage. (PMID:29735545)
• FAM21 interacts with Ku to promote the localization of WASH to DNA double strand break sites. (PMID:38029687)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	washc2c	ENSDARG00000062532
mus_musculus	Washc2	ENSMUSG00000024104
rattus_norvegicus	Washc2c	ENSRNOG00000011653
drosophila_melanogaster	FAM21	FBGN0034529

Paralogs (2): WASHC2C (ENSG00000172661), RCSD1 (ENSG00000198771)

Protein

Protein identifiers

WASH complex subunit 2A — Q641Q2 (reviewed: Q641Q2)

All UniProt accessions (6): Q641Q2, A0A087WYF6, B1AP61, E7ESD2, F8W7U3, Q5T1D7

UniProt curated annotations — full annotation on UniProt →

Function. Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes inhibits WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization and is involved in the fission of tubules that serve as transport intermediates during endosome sorting. Mediates the recruitment of the WASH core complex to endosome membranes via binding to phospholipids and VPS35 of the retromer CSC. Mediates the recruitment of the F-actin-capping protein dimer to the WASH core complex probably promoting localized F-actin polymerization needed for vesicle scission. Via its C-terminus binds various phospholipids, most strongly phosphatidylinositol 4-phosphate (PtdIns-(4)P), phosphatidylinositol 5-phosphate (PtdIns-(5)P) and phosphatidylinositol 3,5-bisphosphate (PtdIns-(3,5)P2). Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1. Required for the association of DNAJC13, ENTR1, ANKRD50 with retromer CSC subunit VPS35. Required for the endosomal recruitment of CCC complex subunits COMMD1 and CCDC93 as well as the retriever complex subunit VPS35L.

Subunit / interactions. Component of the WASH core complex also described as WASH regulatory complex (SHRC) composed of WASH (WASHC1, WASH2P or WASH3P), WASHC2 (WASHC2A or WASHC2C), WASHC3, WASHC4 and WASHC5; in the complex interacts (via N-terminus) directly with WASHC1. The WASH core complex associates with the F-actin-capping protein dimer (formed by CAPZA1, CAPZA2 or CAPZA3 and CAPZB) in a transient or substoichiometric manner which was initially described as WASH complex. Interacts with VPS35; mediates the association with the retromer CSC complex. Interacts with FKBP15. Interacts with CCDC93, CCDC22, VPS35L; indicative for an association of the WASH core complex with the CCC and retriever complexes. Directly interacts with TBC1D23.

Subcellular location. Early endosome membrane. Cell membrane.

Domain organisation. The LFa (leucine-phenylalanine-acidic) motif bind directly to VPS35 of retromer CSC; adjacent motifs can act cooperatively to bind multiple CSCs, although there is significant variability in the affinities of different motifs for retromer.

Miscellaneous. In human, WASHC2 has undergone evolutionary duplication, with 2 highly homologous family members WASHC2A and WASHC2C.

Similarity. Belongs to the FAM21 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q641Q2-1	1	yes
Q641Q2-2	2

RefSeq proteins (3): NP_001005751, NP_001278327, NP_001317031 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029341	FAM21/CAPZIP	Domain

Pfam: PF15255

UniProt features (67 total): short sequence motif 21, compositionally biased region 18, region of interest 14, sequence conflict 7, modified residue 4, chain 1, splice variant 1, turn 1

Structure

Experimental structures (PDB)

7 structures.

PDB	Method	Resolution (Å)
8TTV	X-RAY DIFFRACTION	2
8TTD	X-RAY DIFFRACTION	2.01
8TTT	X-RAY DIFFRACTION	2.35
8TTU	X-RAY DIFFRACTION	2.36
8TTC	X-RAY DIFFRACTION	3.01
8RKS	X-RAY DIFFRACTION	3.1
8TTA	X-RAY DIFFRACTION	3.46

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q641Q2-F1	48.21	0.04

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 (4): 539, 1054, 1087, 1114

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 129 (showing top): GOBP_REGULATION_OF_ACTIN_NUCLEATION, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOBP_REGULATION_OF_ARP2_3_COMPLEX_MEDIATED_ACTIN_NUCLEATION, WANG_CISPLATIN_RESPONSE_AND_XPC_DN, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_ARP2_3_COMPLEX_MEDIATED_ACTIN_NUCLEATION, GOBP_RETROGRADE_TRANSPORT_ENDOSOME_TO_GOLGI, GOBP_ACTIN_NUCLEATION, GOBP_REGULATION_OF_CYTOSKELETON_ORGANIZATION, GOBP_CYTOSOLIC_TRANSPORT, GOCC_EARLY_ENDOSOME_MEMBRANE, GOCC_WASH_COMPLEX, GOMF_PHOSPHATIDYLINOSITOL_PHOSPHATE_BINDING

GO Biological Process (5): protein transport (GO:0015031), endosomal transport (GO:0016197), regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315), protein localization to endosome (GO:0036010), retrograde transport, endosome to Golgi (GO:0042147)

GO Molecular Function (4): phosphatidylinositol phosphate binding (GO:1901981), retromer complex binding (GO:1905394), protein binding (GO:0005515), lipid binding (GO:0008289)

GO Cellular Component (8): nucleolus (GO:0005730), early endosome (GO:0005769), cytosol (GO:0005829), plasma membrane (GO:0005886), early endosome membrane (GO:0031901), WASH complex (GO:0071203), endosome (GO:0005768), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
cytoplasm	2
cellular anatomical structure	2
transport	1
intracellular protein localization	1
establishment of protein localization	1
vesicle-mediated transport	1
intracellular transport	1
Arp2/3 complex-mediated actin nucleation	1
regulation of actin nucleation	1
protein localization to organelle	1
intercellular transport	1
endosomal transport	1
cytosolic transport	1
phospholipid binding	1
protein-containing complex binding	1
nuclear lumen	1
intracellular membraneless organelle	1
endosome	1
membrane	1
cell periphery	1
early endosome	1
endosome membrane	1
protein-containing complex	1
endomembrane system	1
cytoplasmic vesicle	1

Protein interactions and networks

STRING

374 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
WASHC2A	WASHC1	A8K0Z3	887
WASHC2A	WASHC5	Q12768	840
WASHC2A	WASHC4	Q2M389	812
WASHC2A	VPS35	Q96QK1	755
WASHC2A	CCDC93	Q567U6	752
WASHC2A	WASHC3	Q9Y3C0	691
WASHC2A	VPS35L	Q7Z3J2	683
WASHC2A	CCDC22	O60826	656
WASHC2A	TBC1D23	Q9NUY8	634
WASHC2A	VPS29	Q9UBQ0	614
WASHC2A	FKBP15	Q5T1M5	585
WASHC2A	PRAMEF10	O60809	519
WASHC2A	VPS26A	O75436	512
WASHC2A	CAPZA1	P52907	499
WASHC2A	SNX27	Q96L92	483

IntAct

109 interactions, top by confidence:

A	B	Type	Score
CCDC22	CCDC93	psi-mi:“MI:0914”(association)	0.960
CCDC93	CCDC22	psi-mi:“MI:0914”(association)	0.960
VPS29	VPS26C	psi-mi:“MI:0914”(association)	0.760
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CCDC93	WASHC2A	psi-mi:“MI:0915”(physical association)	0.660
CCDC93	WASHC2A	psi-mi:“MI:0407”(direct interaction)	0.660
CAPZA2	CNOT1	psi-mi:“MI:0914”(association)	0.640
CAPZB	CNOT1	psi-mi:“MI:0914”(association)	0.640
WASHC2A	CCDC22	psi-mi:“MI:0914”(association)	0.560
CCDC22	WASHC2A	psi-mi:“MI:0915”(physical association)	0.560
WASHC3	WASH3P	psi-mi:“MI:0914”(association)	0.530
MLF1	NDC80	psi-mi:“MI:0914”(association)	0.530
CPLX2	DEGS1	psi-mi:“MI:0914”(association)	0.530
DISC1	AP4M1	psi-mi:“MI:0914”(association)	0.530
BAG2	HGS	psi-mi:“MI:0914”(association)	0.530
TCEANC2	HTATSF1	psi-mi:“MI:0914”(association)	0.530
ANKRD22	ESYT2	psi-mi:“MI:0914”(association)	0.530

BioGRID (163): FAM21A (Affinity Capture-MS), FAM21A (Affinity Capture-MS), FAM21A (Affinity Capture-MS), FAM21A (Proximity Label-MS), FAM21A (Proximity Label-MS), FAM21A (Proximity Label-MS), FAM21A (Proximity Label-MS), FAM21A (Proximity Label-MS), FAM21A (Proximity Label-MS), FAM21A (Proximity Label-MS), FAM21A (Proximity Label-MS), FAM21A (Proximity Label-MS), FAM21A (Proximity Label-MS), FAM21A (Proximity Label-MS), FAM21A (Proximity Label-MS)

ESM2 similar proteins: A0P8Z5, A4IGN8, B0KYV5, D3ZUI5, F1LR10, O00515, O46385, O54931, O75128, O75152, O75410, O95425, P42167, P57016, Q13625, Q1RMS0, Q3U1C4, Q3UMF0, Q53SF7, Q5NBX1, Q5PQN4, Q5PR69, Q5RC32, Q5RDC1, Q5REG6, Q5U301, Q5U5Q9, Q5ZJ26, Q5ZJJ1, Q5ZMW6, Q641Q2, Q6A098, Q6INC4, Q6NZF1, Q6Y685, Q7TNY7, Q80XI1, Q8CG79, Q8K3I4, Q8K4L3

Diamond homologs: Q3UZA1, Q3ZBT0, Q5RDC1, Q641Q2, Q6JBY9, Q6PGL7, Q80X08, Q91Y25, Q9Y4E1, Q552E2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 127 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
Anchoring of the basal body to the plasma membrane	9	12.6×	2e-05
Loss of Nlp from mitotic centrosomes	6	11.8×	1e-03
Loss of proteins required for interphase microtubule organization from the centrosome	6	11.8×	1e-03
AURKA Activation by TPX2	6	11.3×	1e-03
Recruitment of mitotic centrosome proteins and complexes	6	10.1×	2e-03
Sensory processing of sound by inner hair cells of the cochlea	5	10.1×	6e-03
Regulation of PLK1 Activity at G2/M Transition	6	9.4×	2e-03
Recruitment of NuMA to mitotic centrosomes	6	8.6×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
endocytic recycling	8	19.1×	7e-06
retrograde transport, endosome to Golgi	7	12.8×	5e-04
cilium assembly	10	6.6×	8e-04
protein transport	11	4.3×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	124
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

5326 predictions. Top by Δscore:

Variant	Effect	Δscore
10:50068226:GC:G	donor_gain	1.0000
10:50068287:G:GT	donor_gain	1.0000
10:50069708:GAAT:G	donor_gain	1.0000
10:50069710:AT:A	donor_gain	1.0000
10:50069711:TG:T	donor_loss	1.0000
10:50069712:G:GA	donor_loss	1.0000
10:50069712:G:GG	donor_gain	1.0000
10:50069713:T:G	donor_loss	1.0000
10:50078673:A:AG	acceptor_gain	1.0000
10:50078674:G:GG	acceptor_gain	1.0000
10:50078674:GC:G	acceptor_gain	1.0000
10:50078674:GCGT:G	acceptor_gain	1.0000
10:50080753:TGTAG:T	acceptor_loss	1.0000
10:50080754:GTA:G	acceptor_loss	1.0000
10:50080755:TA:T	acceptor_loss	1.0000
10:50080755:TAGGA:T	acceptor_loss	1.0000
10:50080756:A:T	acceptor_loss	1.0000
10:50080756:AGG:A	acceptor_loss	1.0000
10:50080887:G:GT	donor_gain	1.0000
10:50080927:CAAAG:C	donor_loss	1.0000
10:50080928:AAAG:A	donor_loss	1.0000
10:50080930:AGG:A	donor_loss	1.0000
10:50080930:AGGTG:A	donor_loss	1.0000
10:50080932:G:GA	donor_loss	1.0000
10:50080933:T:A	donor_loss	1.0000
10:50085496:GAA:G	acceptor_gain	1.0000
10:50085556:G:GT	donor_gain	1.0000
10:50090851:G:GT	donor_gain	1.0000
10:50090882:GACCT:G	donor_gain	1.0000
10:50090887:G:GG	donor_gain	1.0000

AlphaMissense

8905 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:50068204:T:A	W35R	1.000
10:50068204:T:C	W35R	1.000
10:50069560:T:C	L47P	1.000
10:50080809:G:C	A136P	1.000
10:50068206:G:C	W35C	0.999
10:50068206:G:T	W35C	0.999
10:50068222:G:C	A41P	0.999
10:50069548:T:C	L43P	0.999
10:50069551:T:C	L44P	0.999
10:50069623:T:C	L68P	0.999
10:50069656:T:C	L79P	0.999
10:50069680:T:C	L87P	0.999
10:50069700:T:C	F94L	0.999
10:50069701:T:C	F94S	0.999
10:50069702:C:A	F94L	0.999
10:50069702:C:G	F94L	0.999
10:50078675:C:A	R98S	0.999
10:50078676:G:C	R98P	0.999
10:50080789:T:C	L129P	0.999
10:50080821:G:C	G140R	0.999
10:50080822:G:A	G140D	0.999
10:50080855:T:C	L151P	0.999
10:50084108:G:T	G189W	0.999
10:50084109:G:A	G189E	0.999
10:50068156:T:A	W19R	0.998
10:50068156:T:C	W19R	0.998
10:50068158:G:C	W19C	0.998
10:50068158:G:T	W19C	0.998
10:50068168:T:A	W23R	0.998
10:50068168:T:C	W23R	0.998

dbSNP variants (sampled 300 via entrez): RS1002684003 (10:50127481 C>T), RS1002733233 (10:50127967 G>A), RS1003856501 (10:50128155 C>A,T), RS1005935530 (10:50132247 C>T), RS1006765327 (10:50133271 T>C), RS1007227317 (10:50133815 A>G), RS1010560279 (10:50127422 C>T), RS1012180143 (10:50130337 T>C), RS1013016796 (10:50132103 T>C), RS1015538075 (10:50132252 T>C), RS1015621713 (10:50128219 C>G,T), RS10159765 (10:50094962 C>A,G), RS1016005209 (10:50132712 C>G,T), RS1020165221 (10:50127464 C>A,T), RS1021790082 (10:50130378 TG>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	3
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	increases expression	1
beta-lapachone	decreases expression, increases expression	1
methacrylaldehyde	increases oxidation, increases abundance, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
bisphenol B	increases expression	1
jinfukang	affects cotreatment, increases expression	1
bisphenol AF	increases expression	1
Sunitinib	increases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants	increases oxidation, affects cotreatment, increases abundance	1
Arsenic	increases expression, increases abundance	1
Cisplatin	affects cotreatment, increases expression	1
Estradiol	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Ozone	affects cotreatment, increases oxidation, increases abundance	1
Potassium Dichromate	increases expression	1
Progesterone	affects cotreatment, increases expression	1
Aflatoxin B1	increases methylation	1
Acrylamide	increases expression	1
Volatile Organic Compounds	affects cotreatment, increases oxidation	1

Clinical trials (associated diseases)

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