HOXD9

Summary

HOXD9 (homeobox D9, HGNC:5140) is a protein-coding gene on chromosome 2q31.1, encoding Homeobox protein Hox-D9 (P28356). Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5’ end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene has not been determined.

Source: NCBI Gene 3235 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 76 total
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_014213

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5140
Approved symbol	HOXD9
Name	homeobox D9
Location	2q31.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000128709
Ensembl biotype	protein_coding
OMIM	142982
Entrez	3235

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000249499

RefSeq mRNA: 1 — MANE Select: NM_014213 NM_014213

CCDS: CCDS2267

Canonical transcript exons

ENST00000249499 — 2 exons

Exon	Start	End
ENSE00000882914	176122719	176123585
ENSE00001845001	176123934	176124937

Expression profiles

Bgee: expression breadth ubiquitous, 138 present calls, max score 94.80.

FANTOM5 (CAGE): breadth broad, TPM avg 0.9724 / max 51.0351, expressed in 385 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
23841	0.4795	283
23842	0.3085	176
23843	0.1128	61
23840	0.0715	18

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of uterus	UBERON:0009853	94.80	gold quality
tendon of biceps brachii	UBERON:0008188	91.53	gold quality
metanephros cortex	UBERON:0010533	91.05	gold quality
endocervix	UBERON:0000458	90.24	gold quality
vagina	UBERON:0000996	89.13	gold quality
ectocervix	UBERON:0012249	89.10	gold quality
myometrium	UBERON:0001296	88.01	gold quality
muscle layer of sigmoid colon	UBERON:0035805	87.77	gold quality
buccal mucosa cell	CL:0002336	86.17	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.69	gold quality
stromal cell of endometrium	CL:0002255	85.53	gold quality
uterus	UBERON:0000995	82.88	gold quality
decidua	UBERON:0002450	82.83	silver quality
prostate gland	UBERON:0002367	82.30	gold quality
right uterine tube	UBERON:0001302	82.14	gold quality
adult mammalian kidney	UBERON:0000082	82.04	gold quality
sigmoid colon	UBERON:0001159	81.46	gold quality
female reproductive system	UBERON:0000474	80.38	gold quality
right ovary	UBERON:0002118	80.06	gold quality
uterine cervix	UBERON:0000002	79.84	gold quality
corpus epididymis	UBERON:0004359	79.61	gold quality
ovary	UBERON:0000992	79.05	gold quality
left ovary	UBERON:0002119	78.96	gold quality
sural nerve	UBERON:0015488	78.25	gold quality
mammary duct	UBERON:0001765	77.77	silver quality
left uterine tube	UBERON:0001303	77.58	gold quality
tendon	UBERON:0000043	77.19	gold quality
kidney	UBERON:0002113	77.08	gold quality
endometrium	UBERON:0001295	76.85	gold quality
right adrenal gland cortex	UBERON:0035827	76.70	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-6701	yes	27.53
E-MTAB-6678	yes	12.62
E-ANND-3	yes	4.52

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

3 targets.

Target	Regulation
CDH1
HOXC5
HOXD9	Activation

JASPAR motifs

Motif	Name	Family
MA0913.2	HOXD9	HOX
MA0913.3	HOXD9	HOX

JASPAR matrix evidence (PMIDs): PMID:10523646

Upstream regulators (CollecTRI, top): EZH2, HOXD11, HOXD4, HOXD9

miRNA regulators (miRDB)

38 targeting HOXD9, 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-6740-5P	100.00	65.64	932
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-205-5P	99.81	70.05	1557
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-3120-3P	99.54	70.28	2669
HSA-MIR-4325	99.49	72.20	1342
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-6165	99.44	67.12	1389
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-544B	99.18	67.41	1632
HSA-MIR-4801	98.96	69.42	2096
HSA-MIR-7113-3P	98.75	65.71	1120
HSA-MIR-11399	98.71	65.69	869
HSA-MIR-4731-3P	98.56	68.60	1860
HSA-MIR-12120	98.05	68.44	1768
HSA-MIR-3691-3P	97.90	65.97	791

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 21)

• 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly (PMID:11778160)
• findings not only indicate that the HOXD9 gene is exclusively expressed in the rheumatoid arthritis synovium but also suggest that the HOXD9 gene contributes to the pathology of rheumatoid arthritis through the fibroblast-like synoviocytes (PMID:12060849)
• HoxD9 and Pbx1 are inappropriately expressed in most human esophageal squamous cell carcinoma. Understanding the role of Hox genes in esophageal epithelial cell carcinogenesis may not only augment early detection but also offer possiblde treatment. (PMID:15770739)
• Our results suggest that HOXD9 may be a novel marker of GCSCs and cell proliferation and/or survival factor in gliomas and glioma cancer stem-like cells, and a potential therapeutic target. (PMID:21600039)
• The association between SNP of the HOXD9 gene and developmental hip dysplasia reached significance in Chinese Han females. (PMID:22520331)
• A genome-wide array-comparative genomic hybridization (aCGH) analysis revealed global chromosomal aberration in MWCNTs-treated clones, predominantly at chromosome 2q31-32, where the potential oncogenes HOXD9 and HOXD13 are located (PMID:23984819)
• Results show that melanoma patients with HOXD9 hypermethylation in lymph node metastasis had poorer disease-free and overall survival. (PMID:24014427)
• The study investigates the temperature dependence of the internal motions of the lysine side-chain NH3(+) groups that form ion pairs with DNA phosphate groups in the HoxD9 homeodomain-DNA complex. (PMID:25489884)
• HoxD9 expression is regulated by histone acetylation in endothelial progenitor cells (PMID:25826494)
• Data show that overexpressing homeobox D9 protein HOXD9 in mucinous ovarian carcinomas (MOCs)cells augmented the neoplastic phenotype (PMID:26075790)
• High expression of HOXD9 was correlated with poor survival in gastric cancer. (PMID:31547840)
• HOXD9 promote epithelial-mesenchymal transition and metastasis in colorectal carcinoma. (PMID:32281284)
• HOXD9 aggravates the development of cervical cancer by transcriptionally activating HMCN1. (PMID:32414224)
• MicroRNA-205-5p targets the HOXD9-Snail1 axis to inhibit triple negative breast cancer cell proliferation and chemoresistance. (PMID:33428601)
• HOXD9induced SCNN1A upregulation promotes pancreatic cancer cell proliferation, migration and predicts prognosis by regulating epithelialmesenchymal transformation. (PMID:34558641)
• HOXD9 transcriptionally induced UXT facilitate breast cancer progression via epigenetic modification of RND3. (PMID:34767964)
• Homeobox D9 drives the malignant phenotypes and enhances the Programmed death ligand-1 expression in non-small cell lung cancer cells via binding to Angiopoietin-2 promoter. (PMID:36907878)
• HOXD9 contributes to the Warburg effect and tumor metastasis in non-small cell lung cancer via transcriptional activation of PFKFB3. (PMID:37004946)
• HOXD9 is a potential prognostic biomarker involved in immune microenvironment of glioma. (PMID:37603105)
• HOXD9/miR-451a/PSMB8 axis is implicated in the regulation of cell proliferation and metastasis via PI3K/AKT signaling pathway in human anaplastic thyroid carcinoma. (PMID:37974228)
• BST2 promotes gastric cancer metastasis under the regulation of HOXD9 and PABPC1. (PMID:38197534)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	hoxd9a	ENSDARG00000059274
mus_musculus	Hoxd9	ENSMUSG00000043342
rattus_norvegicus	Hoxd9	ENSRNOG00000001580

Paralogs (42): HOXA11 (ENSG00000005073), HOXC8 (ENSG00000037965), HOXA1 (ENSG00000105991), HOXA2 (ENSG00000105996), HOXA3 (ENSG00000105997), HOXA5 (ENSG00000106004), HOXA6 (ENSG00000106006), HOXA13 (ENSG00000106031), TLX1 (ENSG00000107807), HOXB6 (ENSG00000108511), TLX2 (ENSG00000115297), HOXB8 (ENSG00000120068), HOXB5 (ENSG00000120075), HOXB3 (ENSG00000120093), HOXB1 (ENSG00000120094), HOXA7 (ENSG00000122592), HOXC13 (ENSG00000123364), HOXC11 (ENSG00000123388), HOXC12 (ENSG00000123407), HOXD1 (ENSG00000128645), HOXD3 (ENSG00000128652), HOXD10 (ENSG00000128710), HOXD11 (ENSG00000128713), HOXD13 (ENSG00000128714), PDX1 (ENSG00000139515), HOXB13 (ENSG00000159184), TLX3 (ENSG00000164438), HOXD4 (ENSG00000170166), HOXD12 (ENSG00000170178), HOXB9 (ENSG00000170689), HOXC5 (ENSG00000172789), HOXB2 (ENSG00000173917), HOXD8 (ENSG00000175879), GSX2 (ENSG00000180613), HOXC9 (ENSG00000180806), HOXC10 (ENSG00000180818), HOXB4 (ENSG00000182742), HOXA4 (ENSG00000197576), HOXC6 (ENSG00000197757), HOXC4 (ENSG00000198353)

Protein

Protein identifiers

Homeobox protein Hox-D9 — P28356 (reviewed: P28356)

Alternative names: Homeobox protein Hox-4C, Homeobox protein Hox-5.2

All UniProt accessions (1): P28356

UniProt curated annotations — full annotation on UniProt →

Function. Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

Subcellular location. Nucleus.

Similarity. Belongs to the Abd-B homeobox family.

RefSeq proteins (1): NP_055028* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001356	HD	Domain
IPR006711	Hox9_activation_N	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR017112	HXA9/HXB9/HXC9	Family
IPR017970	Homeobox_CS	Conserved_site
IPR020479	HD_metazoa	Domain

Pfam: PF00046, PF04617

UniProt features (13 total): compositionally biased region 4, sequence conflict 3, region of interest 2, chain 1, DNA-binding region 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P28356-F1	59.34	0.19

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): 146

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 158 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GOBP_SINGLE_FERTILIZATION, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, FREAC2_01, GOBP_MUSCLE_TISSUE_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, GOBP_BEHAVIOR, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, MODULE_545, GOBP_HINDLIMB_MORPHOGENESIS, GOBP_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_ADULT_BEHAVIOR, GOBP_EMBRYONIC_SKELETAL_SYSTEM_MORPHOGENESIS, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, GOBP_NEUROGENESIS

GO Biological Process (18): negative regulation of transcription by RNA polymerase II (GO:0000122), DNA-templated transcription (GO:0006351), regulation of transcription by RNA polymerase II (GO:0006357), single fertilization (GO:0007338), skeletal muscle tissue development (GO:0007519), adult locomotory behavior (GO:0008344), anterior/posterior pattern specification (GO:0009952), proximal/distal pattern formation (GO:0009954), mammary gland development (GO:0030879), embryonic forelimb morphogenesis (GO:0035115), hindlimb morphogenesis (GO:0035137), positive regulation of transcription by RNA polymerase II (GO:0045944), embryonic skeletal system morphogenesis (GO:0048704), peripheral nervous system neuron development (GO:0048935), regulation of DNA-templated transcription (GO:0006355), regulation of gene expression (GO:0010468), forelimb morphogenesis (GO:0035136), embryonic skeletal system development (GO:0048706)

GO Molecular Function (7): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), 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, RNA polymerase II-specific (GO:0001227), DNA-binding transcription factor activity (GO:0003700), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677)

GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of transcription by RNA polymerase II	3
transcription by RNA polymerase II	3
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
gene expression	2
regulation of DNA-templated transcription	2
regionalization	2
limb morphogenesis	2
transcription cis-regulatory region binding	2
cellular anatomical structure	2
nuclear lumen	2
negative regulation of DNA-templated transcription	1
RNA biosynthetic process	1
fertilization	1
striated muscle tissue development	1
skeletal muscle organ development	1
locomotory behavior	1
adult behavior	1
gland development	1
embryonic limb morphogenesis	1
forelimb morphogenesis	1
positive regulation of DNA-templated transcription	1
embryonic organ morphogenesis	1
skeletal system morphogenesis	1
embryonic skeletal system development	1
neuron development	1
peripheral nervous system neuron differentiation	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
regulation of macromolecule biosynthetic process	1
skeletal system development	1
chordate embryonic development	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	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
transcription regulator activity	1
double-stranded DNA binding	1

Protein interactions and networks

STRING

746 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HOXD9	SHH	Q15465	680
HOXD9	BHMT	Q93088	630
HOXD9	HOXD3	P31249	593
HOXD9	HOXD13	P35453	577
HOXD9	MEIS1	O00470	538
HOXD9	HOXB5	P09067	517
HOXD9	MAGEB6	Q8N7X4	517
HOXD9	HOXB4	P17483	494
HOXD9	SUZ12	Q15022	494
HOXD9	HOXA4	Q00056	492
HOXD9	HOXA3	O43365	490
HOXD9	HOXA5	P20719	481
HOXD9	EVX2	Q03828	475
HOXD9	CENPA	P49450	471
HOXD9	HOXB7	P09629	466

IntAct

6 interactions, top by confidence:

A	B	Type	Score
HOXC9	HOXD9	psi-mi:“MI:0915”(physical association)	0.370
HOXD9	FCMR	psi-mi:“MI:0915”(physical association)	0.370
HOXD9	ETV5	psi-mi:“MI:0915”(physical association)	0.370
BARX1	HOXD9	psi-mi:“MI:0915”(physical association)	0.370
HOXD9	GORAB	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (10): HOXD9 (Affinity Capture-MS), HOXD9 (Affinity Capture-MS), HOXD9 (Reconstituted Complex), HOXD9 (Reconstituted Complex), HOXD9 (Reconstituted Complex), HOXD9 (Two-hybrid), FAIM3 (Two-hybrid), HOXD9 (Two-hybrid), HOXD9 (Two-hybrid), HOXD9 (Two-hybrid)

ESM2 similar proteins: A0A8V0YY16, A0JPN1, A7MB54, A8MTJ6, O35762, O42115, O57601, O88181, O95096, P09065, P23683, P28356, P31311, P31315, P32443, P39020, P42581, P42586, P43697, P48031, P49640, P50222, P50476, P52951, P52954, P52955, P78426, P81067, P81068, P97334, Q14549, Q14774, Q1KKY1, Q1XID0, Q2NKI2, Q2VL76, Q2VL80, Q4V5A3, Q5SQQ9, Q60554

Diamond homologs: A1YFT7, A2D5V0, A2D635, A2T6F8, A2T7D1, A2T7H7, B5DFK3, O42502, O42503, O42506, O43248, P09013, P09014, P09023, P09025, P09067, P09079, P09087, P09631, P09632, P09633, P10179, P14838, P15861, P17481, P17482, P17509, P18863, P18866, P20615, P23459, P23813, P24340, P24341, P24342, P28356, P28357, P28358, P28359, P31257

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
HOXD9	“up-regulates activity”	MEIS1	binding
HMGB1	“up-regulates activity”	HOXD9	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	64
Likely benign	3
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

97 predictions. Top by Δscore:

Variant	Effect	Δscore
2:176123581:CCCAA:C	donor_gain	1.0000
2:176123582:CCAA:C	donor_gain	1.0000
2:176123586:G:GG	donor_gain	1.0000
2:176123583:CAA:C	donor_gain	0.9900
2:176123584:AA:A	donor_gain	0.9900
2:176123584:AAGT:A	donor_loss	0.9900
2:176123585:AG:A	donor_loss	0.9900
2:176123586:GTAA:G	donor_loss	0.9900
2:176123933:GAC:G	acceptor_gain	0.9900
2:176123933:GACA:G	acceptor_gain	0.9900
2:176123587:TAAG:T	donor_loss	0.9800
2:176123928:TTGTA:T	acceptor_loss	0.9800
2:176123929:TGTAG:T	acceptor_loss	0.9800
2:176123930:GTA:G	acceptor_loss	0.9800
2:176123931:TA:T	acceptor_loss	0.9800
2:176123932:A:AG	acceptor_gain	0.9800
2:176123932:A:T	acceptor_loss	0.9800
2:176123933:G:GG	acceptor_gain	0.9800
2:176123933:GACAA:G	acceptor_gain	0.9800
2:176123917:A:G	acceptor_gain	0.9700
2:176123933:GA:G	acceptor_gain	0.9700
2:176123916:A:AG	acceptor_gain	0.9600
2:176123929:T:TA	acceptor_gain	0.9600
2:176123919:C:G	acceptor_gain	0.9300
2:176123918:A:AG	acceptor_gain	0.9200
2:176123873:T:TA	acceptor_gain	0.9100
2:176123909:C:CA	acceptor_gain	0.9100
2:176123588:AAGT:A	donor_loss	0.8600
2:176123936:A:AG	acceptor_gain	0.8200
2:176123586:GT:G	donor_gain	0.6900

AlphaMissense

2254 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:176123951:T:A	W279R	1.000
2:176123951:T:C	W279R	1.000
2:176123953:G:C	W279C	1.000
2:176123953:G:T	W279C	1.000
2:176123981:C:A	R289S	1.000
2:176123990:T:C	Y292H	1.000
2:176123990:T:G	Y292D	1.000
2:176123991:A:G	Y292C	1.000
2:176123994:C:T	T293I	1.000
2:176124004:G:C	Q296H	1.000
2:176124004:G:T	Q296H	1.000
2:176124009:T:C	L298P	1.000
2:176124015:T:A	L300Q	1.000
2:176124015:T:C	L300P	1.000
2:176124015:T:G	L300R	1.000
2:176124017:G:A	E301K	1.000
2:176124018:A:C	E301A	1.000
2:176124018:A:T	E301V	1.000
2:176124019:G:C	E301D	1.000
2:176124019:G:T	E301D	1.000
2:176124021:A:T	K302I	1.000
2:176124022:A:C	K302N	1.000
2:176124022:A:T	K302N	1.000
2:176124023:G:A	E303K	1.000
2:176124026:T:A	F304I	1.000
2:176124026:T:C	F304L	1.000
2:176124026:T:G	F304V	1.000
2:176124027:T:C	F304S	1.000
2:176124027:T:G	F304C	1.000
2:176124028:C:A	F304L	1.000

dbSNP variants (sampled 300 via entrez): RS1000861220 (2:176124244 G>A), RS1001125343 (2:176125163 C>T), RS1002324795 (2:176123797 A>G), RS1004285524 (2:176123479 C>A,T), RS1004331389 (2:176123058 A>C,T), RS1004846273 (2:176122425 C>A,T), RS1005933045 (2:176124293 TTC>T), RS1006009377 (2:176124602 A>C), RS1006261247 (2:176121181 C>T), RS1007454821 (2:176123680 T>C), RS1007737949 (2:176123937 A>C), RS1008223332 (2:176122123 A>G), RS1008738471 (2:176124645 G>A,C,T), RS1010011987 (2:176123890 C>G,T), RS1010835532 (2:176122896 C>A,T)

Disease associations

OMIM: gene MIM:142982 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST000756_3	Magnesium levels	5.000000e-07
GCST006661_148	Male-pattern baldness	3.000000e-18
GCST007876_9	Estimated glomerular filtration rate	1.000000e-14

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004845	magnesium measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Lead	affects methylation, decreases expression	2
FR900359	increases phosphorylation	1
vanadyl sulfate	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
jinfukang	increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Catechin	affects cotreatment, increases expression	1
Estradiol	affects expression	1
Tobacco Smoke Pollution	increases methylation	1
Triclosan	increases expression	1
Tunicamycin	decreases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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