SOX13

Summary

SOX13 (SRY-box transcription factor 13, HGNC:11192) is a protein-coding gene on chromosome 1q32.1, encoding Transcription factor SOX-13 (Q9UN79). Transcription factor that binds to DNA at the consensus sequence 5’-AACAAT-3'.

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. It has also been determined to be a type-1 diabetes autoantigen, also known as islet cell antibody 12.

Source: NCBI Gene 9580 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 100 total
• MANE Select transcript: NM_005686

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11192
Approved symbol	SOX13
Name	SRY-box transcription factor 13
Location	1q32.1
Locus type	gene with protein product
Status	Approved
Aliases	Sox-13, ICA12, MGC117216
Ensembl gene	ENSG00000143842
Ensembl biotype	protein_coding
OMIM	604748
Entrez	9580

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 17 protein_coding, 4 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000272193, ENST00000367203, ENST00000367204, ENST00000480326, ENST00000525258, ENST00000525442, ENST00000528591, ENST00000530882, ENST00000534185, ENST00000618875, ENST00000889802, ENST00000889803, ENST00000889804, ENST00000889805, ENST00000889806, ENST00000889807, ENST00000939007, ENST00000939008, ENST00000939009, ENST00000939010, ENST00000939011, ENST00000939012, ENST00000939013

RefSeq mRNA: 1 — MANE Select: NM_005686 NM_005686

CCDS: CCDS44299

Canonical transcript exons

ENST00000367204 — 14 exons

Exon	Start	End
ENSE00001407876	204125858	204127743
ENSE00001863712	204073115	204073711
ENSE00003466459	204114321	204114432
ENSE00003472979	204116507	204116679
ENSE00003489326	204112915	204113134
ENSE00003525068	204121900	204121985
ENSE00003528629	204117122	204117190
ENSE00003557800	204117593	204117707
ENSE00003568860	204122854	204122963
ENSE00003593343	204124641	204124857
ENSE00003598919	204123112	204123208
ENSE00003617036	204114519	204114605
ENSE00003642928	204122237	204122399
ENSE00003686221	204123661	204123804

Expression profiles

Bgee: expression breadth ubiquitous, 258 present calls, max score 96.15.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.7387 / max 361.8471, expressed in 1551 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
7953	12.2364	1467
7952	1.6716	942
7954	1.4854	676
7955	1.3085	704
7958	0.0369	14

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	96.15	gold quality
right lung	UBERON:0002167	95.93	gold quality
peripheral nervous system	UBERON:0000010	95.18	gold quality
tibial nerve	UBERON:0001323	95.18	gold quality
body of uterus	UBERON:0009853	94.98	gold quality
metanephros cortex	UBERON:0010533	94.89	gold quality
endocervix	UBERON:0000458	94.48	gold quality
popliteal artery	UBERON:0002250	94.40	gold quality
tibial artery	UBERON:0007610	94.40	gold quality
left uterine tube	UBERON:0001303	93.58	gold quality
right uterine tube	UBERON:0001302	93.19	gold quality
upper lobe of left lung	UBERON:0008952	93.05	gold quality
ectocervix	UBERON:0012249	92.67	gold quality
apex of heart	UBERON:0002098	92.26	gold quality
upper lobe of lung	UBERON:0008948	91.97	gold quality
vagina	UBERON:0000996	91.71	gold quality
muscle layer of sigmoid colon	UBERON:0035805	91.69	gold quality
subcutaneous adipose tissue	UBERON:0002190	91.13	gold quality
cervix squamous epithelium	UBERON:0006922	91.09	gold quality
mucosa of stomach	UBERON:0001199	90.96	gold quality
right coronary artery	UBERON:0001625	90.34	gold quality
aorta	UBERON:0000947	90.27	gold quality
omental fat pad	UBERON:0010414	90.25	gold quality
peritoneum	UBERON:0002358	90.22	gold quality
lower esophagus mucosa	UBERON:0035834	90.21	gold quality
minor salivary gland	UBERON:0001830	90.17	gold quality
left coronary artery	UBERON:0001626	89.95	gold quality
right ovary	UBERON:0002118	89.82	gold quality
adipose tissue of abdominal region	UBERON:0007808	89.63	gold quality
coronary artery	UBERON:0001621	89.54	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.58

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA1120.1	SOX13	SOX-related factors
MA1120.2	SOX13	SOX-related factors

JASPAR matrix evidence (PMIDs): PMID:27521520

miRNA regulators (miRDB)

135 targeting SOX13, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4500	99.99	72.72	2367
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-570-3P	99.96	72.41	4910

Literature-anchored findings (GeneRIF, showing 9)

• the interaction between Hhex and SOX13 may contribute to control Wnt/TCF1 signaling in the early embryo. (PMID:20028982)
• combined SOX13 and PAX8 expression regulate the proliferation of gastric cancer cells (PMID:31353958)
• SOX13 promotes colorectal cancer metastasis by transactivating SNAI2 and c-MET. (PMID:32111984)
• Sox13 promotes hepatocellular carcinoma metastasis by transcriptionally activating Twist1. (PMID:32461589)
• SOX13 gene downregulation in peripheral blood mononuclear cells of patients with Klinefelter syndrome. (PMID:33109779)
• Sex-determining Region Y-box transcription factor 13 promotes breast cancer cell proliferation and glycolysis by activating the tripartite motif containing 11-mediated Wnt/beta-catenin signaling pathway. (PMID:35611828)
• Sox13 and M2-like leukemia-associated macrophages contribute to endogenous IL-34 caused accelerated progression of acute myeloid leukemia. (PMID:37149693)
• Hsa_circ_0071589 aggravates stemness and oxaliplatin resistance in colorectal cancer through sponging miR-133b to upregulate SOX13 expression. (PMID:37522976)
• THAP9-AS1 promotes nasopharyngeal carcinoma progression through targeted regulation of the miR-185-5p/SOX13 axis. (PMID:38270621)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	sox13	ENSDARG00000030297
mus_musculus	Sox13	ENSMUSG00000070643
rattus_norvegicus	Sox13	ENSRNOG00000028353
drosophila_melanogaster	Sox14	FBGN0005612
drosophila_melanogaster	Sox21a	FBGN0036411
drosophila_melanogaster	Sox102F	FBGN0039938
caenorhabditis_elegans		WBGENE00001182
caenorhabditis_elegans		WBGENE00015716

Paralogs (20): SOX8 (ENSG00000005513), SOX30 (ENSG00000039600), SOX10 (ENSG00000100146), SOX6 (ENSG00000110693), SOX4 (ENSG00000124766), SOX21 (ENSG00000125285), SOX9 (ENSG00000125398), SOX15 (ENSG00000129194), SOX5 (ENSG00000134532), SOX3 (ENSG00000134595), SOX17 (ENSG00000164736), SOX14 (ENSG00000168875), SOX7 (ENSG00000171056), SOX11 (ENSG00000176887), SOX12 (ENSG00000177732), CFAP65 (ENSG00000181378), SOX2 (ENSG00000181449), SOX1 (ENSG00000182968), SRY (ENSG00000184895), SOX18 (ENSG00000203883)

Protein

Protein identifiers

Transcription factor SOX-13 — Q9UN79 (reviewed: Q9UN79)

Alternative names: Islet cell antigen 12, SRY (Sex determining region Y)-box 13, Type 1 diabetes autoantigen ICA12

All UniProt accessions (4): Q9UN79, E9PKD6, E9PPW0, H0YDQ5

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor that binds to DNA at the consensus sequence 5’-AACAAT-3’. Binds to the proximal promoter region of the myelin protein MPZ gene, and may thereby be involved in the differentiation of oligodendroglia in the developing spinal tube. Binds to the gene promoter of MBP and acts as a transcriptional repressor. Binds to and modifies the activity of TCF7/TCF1, thereby inhibiting transcription and modulates normal gamma-delta T-cell development and differentiation of IL17A expressing gamma-delta T-cells. Regulates expression of BLK in the differentiation of IL17A expressing gamma-delta T-cells. Promotes brown adipocyte differentiation. Inhibitor of WNT signaling.

Subunit / interactions. Homodimer; homodimerization reduces DNA binding efficiency. Interacts with TCF7/TCF1 long isoform (via N-terminus); inhibits WNT-mediated transcriptional activity. Interacts with HHEX (via N-terminus); abolishes the SOX13-mediated inhibition of WNT-mediated transcriptional activity via competitive inhibition of the SOX13-TCF7 complex.

Subcellular location. Nucleus. Cytoplasm.

Tissue specificity. Expressed in exocrine cells and islets of Langerhans in the pancreas (at protein level). Expressed in the pancreas, placenta, kidney, brain, heart, lung, and liver. Expressed in adipose tissue, cervix, colon, esophagus, ovary, prostate, small intestine, spleen, testicle, thymus and thyroid.

Disease relevance. Autoantibodies against SOX13 are present in sera from patients with type 1 diabetes.

RefSeq proteins (1): NP_005677* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009071	HMG_box_dom	Domain
IPR036910	HMG_box_dom_sf	Homologous_superfamily
IPR051356	SOX/SOX-like_TF	Family

Pfam: PF00505

UniProt features (19 total): modified residue 5, sequence conflict 5, region of interest 4, compositionally biased region 2, chain 1, DNA-binding region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UN79-F1	61.13	0.26

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 (5): 385, 386, 613, 335, 382

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-3769402	Deactivation of the beta-catenin transactivating complex
R-HSA-162582	Signal Transduction
R-HSA-195721	Signaling by WNT
R-HSA-201681	TCF dependent signaling in response to WNT

MSigDB gene sets: 200 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GSE45365_NK_CELL_VS_CD8_TCELL_DN, GOBP_SPINAL_CORD_DEVELOPMENT, GOBP_REGULATION_OF_CELL_ACTIVATION, MULLIGHAN_NPM1_SIGNATURE_3_UP, GOBP_REGULATION_OF_FAT_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, GOBP_POSITIVE_REGULATION_OF_FAT_CELL_DIFFERENTIATION, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_BROWN_FAT_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GOBP_CELL_DIFFERENTIATION_IN_SPINAL_CORD, RODRIGUES_NTN1_TARGETS_DN, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_CELL_CELL_ADHESION

GO Biological Process (13): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), anatomical structure morphogenesis (GO:0009653), spinal cord oligodendrocyte cell differentiation (GO:0021529), gamma-delta T cell differentiation (GO:0042492), cell fate commitment (GO:0045165), positive regulation of gamma-delta T cell differentiation (GO:0045588), negative regulation of DNA-templated transcription (GO:0045892), negative regulation of canonical Wnt signaling pathway (GO:0090090), positive regulation of brown fat cell differentiation (GO:0090336), cell differentiation (GO:0030154), regulation of gamma-delta T cell differentiation (GO:0045586)

GO Molecular Function (11): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity (GO:0001217), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), identical protein binding (GO:0042802), sequence-specific DNA binding (GO:0043565), RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), protein binding (GO:0005515)

GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
TCF dependent signaling in response to WNT	1
Signal Transduction	1
Signaling by WNT	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	3
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
transcription cis-regulatory region binding	3
cellular anatomical structure	3
regulation of transcription by RNA polymerase II	2
transcription by RNA polymerase II	2
negative regulation of DNA-templated transcription	2
DNA-templated transcription	2
cellular developmental process	2
gamma-delta T cell differentiation	2
DNA-binding transcription factor activity	2
regulation of gene expression	1
regulation of RNA biosynthetic process	1
developmental process	1
anatomical structure development	1
cell differentiation in spinal cord	1
oligodendrocyte differentiation	1
T cell differentiation	1
gamma-delta T cell activation	1
cell differentiation	1
positive regulation of T cell differentiation	1
regulation of gamma-delta T cell differentiation	1
positive regulation of gamma-delta T cell activation	1
negative regulation of RNA biosynthetic process	1
negative regulation of Wnt signaling pathway	1
canonical Wnt signaling pathway	1
regulation of canonical Wnt signaling pathway	1
positive regulation of fat cell differentiation	1
brown fat cell differentiation	1
regulation of brown fat cell differentiation	1
regulation of T cell differentiation	1
regulation of gamma-delta T cell activation	1
transcription regulatory region nucleic acid binding	1
sequence-specific double-stranded DNA binding	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
negative regulation of transcription by RNA polymerase II	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription repressor activity	1
nucleic acid binding	1

Protein interactions and networks

STRING

936 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SOX13	SPON2	Q9BUD6	524
SOX13	EGR2	P11161	505
SOX13	TEAD1	P28347	498
SOX13	RORC	P51449	483
SOX13	TCF7	P36402	483
SOX13	CEP85	Q6P2H3	448
SOX13	ZIC1	Q15915	421
SOX13	PTPRN	Q16849	407
SOX13	ZBTB16	Q05516	406
SOX13	IL23R	Q5VWK5	382
SOX13	ETNK2	Q9NVF9	371
SOX13	BCL11B	Q9C0K0	366
SOX13	EGR3	Q06889	362
SOX13	IL17A	Q16552	357
SOX13	SHKBP1	Q8TBC3	356

IntAct

41 interactions, top by confidence:

A	B	Type	Score
SOX13	CTBP2	psi-mi:“MI:0915”(physical association)	0.630
TXLNB	SOX13	psi-mi:“MI:0915”(physical association)	0.560
CTBP2	SOX13	psi-mi:“MI:0915”(physical association)	0.560
TRAF2	SOX13	psi-mi:“MI:0915”(physical association)	0.560
VEZF1	SOX13	psi-mi:“MI:0915”(physical association)	0.560
ZNF587	SOX13	psi-mi:“MI:0915”(physical association)	0.560
INO80B	SOX13	psi-mi:“MI:0915”(physical association)	0.560
SOX5	SOX1	psi-mi:“MI:0914”(association)	0.530
NUP62	RGPD8	psi-mi:“MI:0914”(association)	0.530
SOX13	SOX6	psi-mi:“MI:0914”(association)	0.480
APBA3	SOX13	psi-mi:“MI:0915”(physical association)	0.370
SOX13	YTHDC1	psi-mi:“MI:0915”(physical association)	0.370
SOX13	SMAD7	psi-mi:“MI:0915”(physical association)	0.370
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
CLEC12A	GOSR1	psi-mi:“MI:0914”(association)	0.350
CEP85	SOX5	psi-mi:“MI:0914”(association)	0.350
CLEC12A	GOSR2	psi-mi:“MI:0914”(association)	0.350
ZNF773	IPO8	psi-mi:“MI:0914”(association)	0.350
SOX13	H1-5	psi-mi:“MI:0914”(association)	0.350
ZNF7	SOX5	psi-mi:“MI:0914”(association)	0.350
SOX5	RGPD8	psi-mi:“MI:0914”(association)	0.350
FEV	TAF4	psi-mi:“MI:2364”(proximity)	0.270
HNF1B	BCL9	psi-mi:“MI:2364”(proximity)	0.270
SOX5	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270
SOX6	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270
TXLNB	SOX13	psi-mi:“MI:0915”(physical association)	0.000
INO80B	SOX13	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (53): SOX13 (Affinity Capture-MS), SOX13 (Affinity Capture-MS), SOX13 (Affinity Capture-MS), SOX13 (Affinity Capture-MS), SOX13 (Affinity Capture-MS), SOX13 (Affinity Capture-MS), SOX13 (Affinity Capture-RNA), SOX13 (Affinity Capture-MS), SOX13 (Affinity Capture-MS), SOX13 (Two-hybrid), SOX13 (Two-hybrid), SOX13 (Two-hybrid), TXLNB (Two-hybrid), CTBP2 (Two-hybrid), ZNF587 (Two-hybrid)

ESM2 similar proteins: A0A0R4IYX6, A1L1F6, A2VCZ5, A3KP40, A5X7A0, A7MB40, A7XYJ6, B7ZS37, E1BE02, E7F888, E9Q2Z1, O35261, O35914, O95402, P59598, P78312, P98177, Q04891, Q4G112, Q53TQ3, Q566I1, Q5W1J6, Q5ZJ69, Q60795, Q66JY2, Q71F56, Q76I79, Q7YR76, Q8AYC2, Q8BHZ4, Q8BZ32, Q8CCJ9, Q8CGI1, Q8IZQ8, Q8K4J6, Q8N365, Q8R4I1, Q8R5I7, Q8VIM5, Q90WM5

Diamond homologs: A0A0G2JTZ2, A2TED3, A5D8R3, B1H349, B3DLD3, B3DM43, F1M8W4, O42342, O42601, P0C1G9, P35710, P35711, P35712, P35713, P35716, P36389, P36390, P36393, P36394, P36396, P40645, P40646, P40647, P40649, P40650, P40656, P40657, P43680, P47792, P48433, P48435, Q03255, Q03257, Q04891, Q05738, Q06831, Q06945, Q20201, Q23045, Q27949

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
FOXC1	“up-regulates quantity by expression”	SOX13	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	82
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2028 predictions. Top by Δscore:

Variant	Effect	Δscore
1:204073707:GAGTA:G	donor_gain	1.0000
1:204073709:GTA:G	donor_gain	1.0000
1:204073712:G:GG	donor_gain	1.0000
1:204112914:GGAT:G	acceptor_gain	1.0000
1:204113030:GGC:G	donor_gain	1.0000
1:204113115:G:T	donor_gain	1.0000
1:204114320:GGACT:G	acceptor_gain	1.0000
1:204114429:GAAG:G	donor_gain	1.0000
1:204114429:GAAGG:G	donor_loss	1.0000
1:204114430:A:T	donor_gain	1.0000
1:204114431:AGGT:A	donor_loss	1.0000
1:204114432:GGTAG:G	donor_loss	1.0000
1:204114434:T:G	donor_loss	1.0000
1:204114517:A:AG	acceptor_gain	1.0000
1:204114517:AGT:A	acceptor_gain	1.0000
1:204114517:AGTG:A	acceptor_gain	1.0000
1:204114518:G:GA	acceptor_gain	1.0000
1:204114518:GT:G	acceptor_gain	1.0000
1:204114518:GTG:G	acceptor_gain	1.0000
1:204114518:GTGG:G	acceptor_gain	1.0000
1:204114518:GTGGT:G	acceptor_gain	1.0000
1:204114587:G:GT	donor_gain	1.0000
1:204116495:A:AG	acceptor_gain	1.0000
1:204116495:ACT:A	acceptor_gain	1.0000
1:204116495:ACTGT:A	acceptor_gain	1.0000
1:204116496:C:G	acceptor_gain	1.0000
1:204116497:T:A	acceptor_gain	1.0000
1:204116499:T:TA	acceptor_gain	1.0000
1:204116500:G:A	acceptor_gain	1.0000
1:204116505:A:AG	acceptor_gain	1.0000

AlphaMissense

4108 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:204116543:T:C	L152P	1.000
1:204116564:T:C	L159P	1.000
1:204116585:T:C	L166P	1.000
1:204117144:T:C	L205P	1.000
1:204117174:T:C	L215P	1.000
1:204123702:A:G	K425E	1.000
1:204123704:G:C	K425N	1.000
1:204123704:G:T	K425N	1.000
1:204123705:A:G	R426G	1.000
1:204123706:G:C	R426T	1.000
1:204123706:G:T	R426M	1.000
1:204123707:G:C	R426S	1.000
1:204123707:G:T	R426S	1.000
1:204123708:C:A	P427T	1.000
1:204123708:C:T	P427S	1.000
1:204123709:C:A	P427H	1.000
1:204123709:C:G	P427R	1.000
1:204123709:C:T	P427L	1.000
1:204123713:G:A	M428I	1.000
1:204123713:G:C	M428I	1.000
1:204123713:G:T	M428I	1.000
1:204123714:A:C	N429H	1.000
1:204123714:A:G	N429D	1.000
1:204123714:A:T	N429Y	1.000
1:204123715:A:T	N429I	1.000
1:204123716:C:A	N429K	1.000
1:204123716:C:G	N429K	1.000
1:204123718:C:A	A430D	1.000
1:204123720:T:A	F431I	1.000
1:204123720:T:C	F431L	1.000

dbSNP variants (sampled 300 via entrez): RS1000091872 (1:204112941 C>T), RS1000104109 (1:204099057 C>G), RS1000243673 (1:204099459 T>A), RS1000253949 (1:204105080 C>T), RS1000394649 (1:204118084 C>T), RS1000401493 (1:204101277 C>T), RS1000460970 (1:204081586 G>A,T), RS1000494261 (1:204072489 A>ACCT), RS1000625383 (1:204117513 A>G), RS1000741656 (1:204081241 T>G), RS1000840536 (1:204096006 C>T), RS1000874204 (1:204093814 G>T), RS1000894399 (1:204089675 G>A), RS1000947253 (1:204094220 T>C), RS1000954318 (1:204106526 T>G)

Disease associations

OMIM: gene MIM:604748 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST004861_34	Itch intensity from mosquito bite	2.000000e-08
GCST004862_172	Itch intensity from mosquito bite adjusted by bite size	1.000000e-06
GCST004865_54	Itch intensity from mosquito bite adjusted by bite size	1.000000e-06
GCST006296_6	Response to ziprazidone in schizophrenia	7.000000e-07
GCST007681_2	Thyroid stimulating hormone levels	6.000000e-08
GCST008359_1	Response to cognitive-behavioural therapy in anxiety disorder	7.000000e-07
GCST009028_30	Adverse response to drug	4.000000e-07

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0008377	mosquito bite reaction itch intensity measurement
EFO:0008378	mosquito bite reaction size measurement
EFO:0007820	cognitive behavioural therapy
EFO:0009658	adverse effect

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	3
Aflatoxin B1	increases methylation	2
aristolochic acid I	increases expression	1
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
TAK-243	increases sumoylation	1
dicrotophos	increases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	increases expression, affects cotreatment	1
sodium arsenite	decreases expression, increases abundance, affects cotreatment	1
manganese chloride	increases abundance, affects cotreatment, decreases expression	1
aflatoxin B2	increases methylation	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
quinocetone	increases expression	1
bisphenol S	decreases methylation	1
Rosiglitazone	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	increases expression	1
Sunitinib	decreases expression	1
Zoledronic Acid	increases expression	1
Arsenic Trioxide	increases expression, affects cotreatment	1
Leflunomide	decreases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Ascorbic Acid	affects cotreatment, increases expression	1
Azacitidine	decreases expression	1
Caffeine	affects phosphorylation	1
Carbamazepine	affects expression	1
Cisplatin	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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