HOXA10

Summary

HOXA10 (homeobox A10, HGNC:5100) is a protein-coding gene on chromosome 7p15.2, encoding Homeobox protein Hox-A10 (P31260). Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor that may regulate gene expression, morphogenesis, and differentiation. More specifically, it may function in fertility, embryo viability, and regulation of hematopoietic lineage commitment. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the downstream homeobox A9 (HOXA9) gene.

Source: NCBI Gene 3206 — RefSeq curated summary.

At a glance

• Gene–disease (curated): female reproductive system disorder (Limited, GenCC)
• GWAS associations: 7
• Clinical variants (ClinVar): 84 total
• Transcription factor: yes — 51 downstream targets (CollecTRI)
• MANE Select transcript: NM_018951

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5100
Approved symbol	HOXA10
Name	homeobox A10
Location	7p15.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000253293
Ensembl biotype	protein_coding
OMIM	142957
Entrez	3206

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding_CDS_not_defined, 2 protein_coding

ENST00000283921, ENST00000396344, ENST00000519593, ENST00000521421, ENST00000524368

RefSeq mRNA: 1 — MANE Select: NM_018951 NM_018951

CCDS: CCDS5410

Canonical transcript exons

ENST00000283921 — 2 exons

Exon	Start	End
ENSE00001189668	27173349	27174320
ENSE00001894677	27170605	27172173

Expression profiles

Bgee: expression breadth ubiquitous, 190 present calls, max score 96.21.

FANTOM5 (CAGE): breadth broad, TPM avg 4.6491 / max 336.3241, expressed in 614 samples.

FANTOM5 promoters (14 alternative TSS)

Promoter ID	TPM avg	Samples expressed
83323	1.6630	445
83322	1.4146	464
83325	0.5979	196
83321	0.1915	108
83328	0.1361	79
83318	0.1047	29
83315	0.1039	51
83319	0.0890	32
83327	0.0800	33
83314	0.0649	25

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
biceps brachii	UBERON:0001507	96.21	gold quality
body of uterus	UBERON:0009853	96.04	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	95.81	gold quality
myometrium	UBERON:0001296	94.54	gold quality
endometrium	UBERON:0001295	93.97	gold quality
uterus	UBERON:0000995	93.66	gold quality
vastus lateralis	UBERON:0001379	93.65	gold quality
endocervix	UBERON:0000458	93.59	gold quality
quadriceps femoris	UBERON:0001377	93.30	gold quality
muscle of leg	UBERON:0001383	93.30	gold quality
skeletal muscle organ	UBERON:0014892	93.25	gold quality
muscle organ	UBERON:0001630	93.24	gold quality
gastrocnemius	UBERON:0001388	93.13	gold quality
gluteal muscle	UBERON:0002000	92.73	gold quality
triceps brachii	UBERON:0001509	92.72	gold quality
skeletal muscle tissue	UBERON:0001134	92.41	gold quality
deltoid	UBERON:0001476	92.04	gold quality
calcaneal tendon	UBERON:0003701	91.74	gold quality
muscle layer of sigmoid colon	UBERON:0035805	91.40	gold quality
tendon	UBERON:0000043	91.39	gold quality
stromal cell of endometrium	CL:0002255	91.33	gold quality
popliteal artery	UBERON:0002250	91.09	gold quality
tibial artery	UBERON:0007610	91.07	gold quality
ectocervix	UBERON:0012249	90.50	gold quality
tendon of biceps brachii	UBERON:0008188	90.10	silver quality
sigmoid colon	UBERON:0001159	89.72	gold quality
hindlimb stylopod muscle	UBERON:0004252	89.61	gold quality
mucosa of transverse colon	UBERON:0004991	89.54	gold quality
transverse colon	UBERON:0001157	89.36	gold quality
decidua	UBERON:0002450	89.25	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-75688	yes	298.64
E-HCAD-10	yes	48.07
E-ANND-3	yes	5.32

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

51 targets.

Target	Regulation
ARIH2
BHLHE22	Activation
CAPN5	Unknown
CBX2
CCNB2	Activation
CDH1	Activation
CDK1	Activation
CDKN1A	Activation
CDKN1C	Repression
CDX4	Activation
CISH
CYBB
DUSP4	Unknown
EDNRA	Unknown
EMX2	Activation
EPCAM
ESR1
FGF2
FKBP4
GHRHR
GLB1
HOXA10
HOXA9
HOXB4
IBSP
ID2	Activation
IGFBP1	Activation
IL11	Repression
IL15	Activation
ITGB3	Unknown

JASPAR motifs

Motif	Name	Family
MA0899.1	HOXA10	HOX
MA0899.2	HOXA10	HOX

JASPAR matrix evidence (PMIDs): PMID:18585359

Upstream regulators (CollecTRI, top): CDX4, CREBBP, ESR1, ESR2, EZH2, FLI1, GATA1, GZF1, HOXA10, HOXA11, HOXA9, KDM6A, KMT2A, PHF1, SETBP1, TP53, VDR, WT1

miRNA regulators (miRDB)

99 targeting HOXA10, 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-4533	100.00	69.48	2758
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-374A-5P	99.90	71.34	2923

Literature-anchored findings (GeneRIF, showing 40)

• regulates hematopoietic lineage commitment, enhancing the monocytic differentiation pathway (PMID:11830466)
• beta3-Integrin expression was directly up-regulated by HOXA10 in the endometrium (PMID:11875117)
• SHP1 has a role in myeloid differentiation and is regulated by HoxA10 (PMID:12145285)
• its expression is diminished by hydrosalpinx fluid in the endometrium (PMID:12215336)
• In these studies we identify and characterize the regulation of EMX2 by HOXA10. (PMID:12482956)
• FKHR and HOXA10 interact directly and can function cooperatively to stimulate IGFBP-1 promoter activity in endometrial cells (PMID:12493691)
• HOXA10 expression was repressed by testosterone in vitro; endometrium of patients with polycystic ovary syndrome demonstrated decreased HOXA10 mRNA (PMID:12519859)
• HoxA10 represses gene transcription in undifferentiated myeloid cells by interacting with histone deacetylase 2 (PMID:14512427)
• Cell-free media that had contained human embryos cultured to the blastocyst stage contain a soluble molecule that induces HOXA10 expression in an endometrial epithelial cell line. (PMID:14607569)
• Data report novel nucleoporin 98 fusions with homeobox (HOX)A10, HOXB3 and HOXB4, and describe the results of coexpression of these proteins with the Hox cofactor Meis1 in leukemic induction. (PMID:14966272)
• Results show for the first time that SIRT2 interacts with the homeobox transcription factor, HOXA10. (PMID:15213244)
• HOXA10 estrogen response element(ERE)1 therefore demonstrated ligand specificity distinct from the consensus ERE (PMID:15236964)
• The HOXA10 gene cluster is in T-cell malignancies resulting in deregulated HOXA gene expression. (PMID:15674412)
• HOXA10 and HOXA11 expression increases during the menstrual cycle, increasing drastically in the midluteal phase, at the time of implantation. (PMID:15731295)
• HOXA10 is down-regulated in the process of decidualization (PMID:15749785)
• A direct role of vitamin D in the regulation of HOXA10 in primary human endometrium and myelomonocytic cells was identified. (PMID:15905361)
• The aberrant methylation at HOXA10 may be responsible for the aberrant gene expression in the endometrium of women with endometriosis. (PMID:16098858)
• Cytokine-stimulated pathways regulate HoxA10-mediated repression of the CYBB and NCF2 genes in differentiating myeloid cells and in mature phagocytes during the inflammatory response. (PMID:16210632)
• findings reveal a novel role for HOXA10 deregulation in the progression of endometrial carcinoma by promoting epithelial-mesenchymal transition (PMID:16424022)
• The expression of HOXA10 is restricted to primordial and early primary follicles. (PMID:16597639)
• However, the diminished expression of HOXA10 in ectopic endometrium might not allow for normal endometrial development and might contribute to the pathogenesis of endometriosis by creating P resistance. (PMID:16647375)
• synergism between NUP98-HOX and wt-Flt3 is the result of the ability of Flt3 to increase proliferation of myeloid progenitors blocked in differentiation by NUP98-HOX fusions, revealing a direct role for wt-Flt3 in the pathobiology of AML. (PMID:16861351)
• HOXA10 is necessary for implantation. (PMID:17173899)
• HoxA10 is a bifunctional protein that is involved in dynamic regulation of multiple aspects of phagocyte phenotype and function (PMID:17439948)
• No DNA sequence differences were found in either patients with congenital absence of uterus and vagina or normal controls in either of the two protein-coding exons of the HOXA10 gene. (PMID:17482600)
• We sought to understand the role of HOXA10 in megakaryopoiesis better, by investigating its transcriptional regulation by 5’ region GATA-1 and Ets-1 sites. (PMID:17688409)
• HOXA10 is differentially expressed in the functionalis and basialis zones of the luteal phase monkey endometrium and is suppressed upon antiprogestin treatment but induced by embryonic stimuli (PMID:17709569)
• Both estrogen and progestin can up-regulate the expression of HOXA10 gene in Ishikawa cells, but RU486 can inhibit the effect and HB-EGF can elevate the expression level of HOXA10 gene. (PMID:17828513)
• Reduction of HOXA10 expression is associated with chronic myelogenous leukemia (PMID:18190961)
• Endometriosis patients with HOXA10 polymorphism were associated with a lower serum cancer antigen-125, a lower American Fertility Society score and less severe obliterated cul-de-sac. (PMID:18339267)
• HOXA10 is actively involved in promoting cell proliferation through the regulation of hundreds of genes. (PMID:18456676)
• Calpain5 expression is regulated by HOXA10. Calpain5 expression was decreased in endometriosis likely as a result of decreased HOXA10 expression. (PMID:18829447)
• the vitamin D(3)/Hox-A10 pathway supports MafB function during the induction of monocyte differentiation. (PMID:18832725)
• The dramatic decrease of endometrial HOXA10 in response to copper intrauterine device use may contribute to contraceptive efficacy (PMID:18930214)
• Gynaecologic epithelial histologic type is regulated by WT1 expression through its selective repression of HOX genes. (PMID:19017365)
• constitutive SHP2 activation synergizes with HoxA10 overexpression to accelerate progression to acute myeloid leukemia (PMID:19022774)
• These results indicate that p/CAF is a novel HOXA10 target gene, and HOXA10 promotes human endometrial development, at least in part, through the regulation of p/CAF gene. (PMID:19084499)
• In the endometrium HOXA10 gene expression is increased in response to increasing human chorionic gonadotropin concentration. (PMID:19131054)
• HoxA-11 is required for prolactin expression in decidualized embryonic stem cells and turns into an activator when combined with FOXO1A; HOXA-10 is unable to upregulate PRL expression when co-expressed with FOXO1A (PMID:19727442)
• findings suggest that altered expression of HOXA-10 in endometrial stromal cells during the window of implantation may be one of the potential molecular mechanisms of infertility in infertile patients (PMID:19736237)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Hoxa10	ENSMUSG00000000938
rattus_norvegicus	Hoxa10	ENSRNOG00000065199

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), HOXD9 (ENSG00000128709), 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)

Protein

Protein identifiers

Homeobox protein Hox-A10 — P31260 (reviewed: P31260)

Alternative names: Homeobox protein Hox-1.8, Homeobox protein Hox-1H, PL

All UniProt accessions (1): P31260

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. Binds to the DNA sequence 5’-AA[AT]TTTTATTAC-3'.

Subunit / interactions. Interacts with SIRT2; the interaction is direct.

Subcellular location. Nucleus.

Similarity. Belongs to the Abd-B homeobox family.

Isoforms (2)

UniProt ID	Names	Canonical?
P31260-1	1, PL1	yes
P31260-2	2, PL2

RefSeq proteins (1): NP_061824* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001356	HD	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR017970	Homeobox_CS	Conserved_site
IPR020479	HD_metazoa	Domain
IPR046333	HXA10/ABDB-like	Family

Pfam: PF00046

UniProt features (35 total): sequence conflict 24, compositionally biased region 5, splice variant 2, region of interest 2, chain 1, DNA-binding region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P31260-F1	61.37	0.19

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 323 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, RNGTGGGC_UNKNOWN, GOBP_SINGLE_FERTILIZATION, MULLIGHAN_NPM1_SIGNATURE_3_UP, BROWNE_HCMV_INFECTION_6HR_DN, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, BENPORATH_ES_WITH_H3K27ME3, WWTAAGGC_UNKNOWN, PAX4_01, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOZGIT_ESR1_TARGETS_DN, AAGCCAT_MIR135A_MIR135B

GO Biological Process (15): skeletal system development (GO:0001501), regulation of transcription by RNA polymerase II (GO:0006357), spermatogenesis (GO:0007283), single fertilization (GO:0007338), male gonad development (GO:0008584), anterior/posterior pattern specification (GO:0009952), proximal/distal pattern formation (GO:0009954), embryonic limb morphogenesis (GO:0030326), prostate gland development (GO:0030850), response to testosterone (GO:0033574), response to estrogen (GO:0043627), positive regulation of transcription by RNA polymerase II (GO:0045944), uterus development (GO:0060065), regulation of DNA-templated transcription (GO:0006355), regulation of gene expression (GO:0010468)

GO Molecular Function (7): 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 activator activity, RNA polymerase II-specific (GO:0001228), histone deacetylase binding (GO:0042826), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (5): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription regulator complex (GO:0005667), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
cellular anatomical structure	3
transcription by RNA polymerase II	2
regionalization	2
reproductive structure development	2
regulation of transcription by RNA polymerase II	2
system development	1
regulation of DNA-templated transcription	1
developmental process involved in reproduction	1
male gamete generation	1
fertilization	1
gonad development	1
development of primary male sexual characteristics	1
limb morphogenesis	1
embryonic appendage morphogenesis	1
urogenital system development	1
gland development	1
response to lipid	1
response to ketone	1
response to hormone	1
positive regulation of DNA-templated transcription	1
animal organ development	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
gene expression	1
regulation of macromolecule biosynthetic process	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
enzyme binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
binding	1
chromosome	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1472 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HOXA10	MEIS1	O00470	849
HOXA10	PBX2	P40425	795
HOXA10	PBX1	P40424	756
HOXA10	MLLT1	Q03111	696
HOXA10	FOXO1	Q12778	625
HOXA10	CTSL	P07711	613
HOXA10	HOXA13	P31271	596
HOXA10	CTNNB1	P35222	595
HOXA10	KMT2A	Q03164	567
HOXA10	PBX4	Q9BYU1	566
HOXA10	BMP2	P12643	565
HOXA10	AFDN	P55196	564
HOXA10	MEIS2	O14770	563
HOXA10	EMX2	Q04743	563
HOXA10	TASP1	Q9H6P5	559

IntAct

29 interactions, top by confidence:

A	B	Type	Score
HOXA10	IPO7	psi-mi:“MI:0915”(physical association)	0.640
IPO7	HOXA10	psi-mi:“MI:0915”(physical association)	0.640
ARIH1	SPOP	psi-mi:“MI:0914”(association)	0.530
SPI1	HOXA10	psi-mi:“MI:0915”(physical association)	0.520
EMX1	HOXA10	psi-mi:“MI:0915”(physical association)	0.370
POLR3D	HOXA10	psi-mi:“MI:0915”(physical association)	0.370
HOXA10	SNAPC1	psi-mi:“MI:0915”(physical association)	0.370
FOXB1	DDX39A	psi-mi:“MI:0914”(association)	0.350
FOXE1	DDX39A	psi-mi:“MI:0914”(association)	0.350
NFATC1	SMARCA5	psi-mi:“MI:0914”(association)	0.350
RBPJ	SAMD1	psi-mi:“MI:0914”(association)	0.350
COPS5	FBLL1	psi-mi:“MI:0914”(association)	0.350
MAPK14	PRKY	psi-mi:“MI:0914”(association)	0.350
MYC		psi-mi:“MI:0914”(association)	0.350
GRHL1	POLRMT	psi-mi:“MI:0914”(association)	0.350
IPO7	NSA2	psi-mi:“MI:0914”(association)	0.350
RANBP1	RGPD3	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
S100A2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
S100P	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
ARIH1	PHGDH	psi-mi:“MI:0914”(association)	0.350
ARGLU1	PIAS2	psi-mi:“MI:2364”(proximity)	0.270
SP7	IGF2BP3	psi-mi:“MI:2364”(proximity)	0.270
TEAD1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (53): KAT2B (Affinity Capture-Western), HOXA10 (Affinity Capture-Western), HOXA10 (Affinity Capture-MS), HOXA10 (Affinity Capture-MS), HOXA10 (Affinity Capture-MS), HOXA10 (Affinity Capture-MS), HOXA10 (Affinity Capture-MS), HOXA10 (Affinity Capture-MS), HOXA10 (Affinity Capture-MS), HOXA10 (Affinity Capture-MS), HOXA10 (Affinity Capture-RNA), HOXA10 (Affinity Capture-MS), HOXA10 (Affinity Capture-MS), HOXA10 (Affinity Capture-MS), HOXA10 (Two-hybrid)

ESM2 similar proteins: A1YER7, A1YF08, A1YFD8, A1YFY3, A1YG85, A2D4P8, A2D4R4, A2D5I1, A2D649, A2T6H5, A2T6X6, A2T6Z0, A2T756, A2T7H5, A2T7J2, O35767, O43186, O88470, P06798, P09016, P10284, P10628, P17277, P17483, P18111, P23813, P31260, P31277, P31310, P42582, P43241, P43345, P47902, P52945, P52946, P52947, P52952, P57073, P58012, P70118

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

14 interactions.

A	Effect	B	Mechanism
PTPN11	up-regulates	HOXA10	dephosphorylation
SETBP1	“up-regulates quantity by expression”	HOXA10	“transcriptional regulation”
HOXA10	“down-regulates quantity by repression”	MEF2C	“transcriptional regulation”
HOXA10	“up-regulates quantity by expression”	MYCN	“transcriptional regulation”
HOXA10	“up-regulates quantity by expression”	EMX2	“transcriptional regulation”
HOXA10	“down-regulates quantity by repression”	IGFBP1	“transcriptional regulation”
HOXA10	“down-regulates quantity by repression”	PHGDH	“transcriptional regulation”
HOXA11	“down-regulates quantity by repression”	HOXA10	“transcriptional regulation”
GATA1	“down-regulates quantity by repression”	HOXA10	“transcriptional regulation”
FLI1	“down-regulates quantity by repression”	HOXA10	“transcriptional regulation”
KDM6A	“up-regulates quantity by expression”	HOXA10	“transcriptional regulation”
EZH2	“down-regulates quantity by repression”	HOXA10	“transcriptional regulation”
PHF1	“down-regulates quantity by repression”	HOXA10	“transcriptional regulation”
HOXA10	“up-regulates quantity by expression”	MYLK	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	73
Likely benign	6
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

355 predictions. Top by Δscore:

Variant	Effect	Δscore
7:27172178:CA:C	acceptor_gain	1.0000
7:27172179:A:AC	acceptor_gain	1.0000
7:27172179:A:C	acceptor_gain	1.0000
7:27179640:TCTTA:T	donor_loss	1.0000
7:27179641:CTTA:C	donor_loss	1.0000
7:27179642:TTA:T	donor_loss	1.0000
7:27179643:TA:T	donor_loss	1.0000
7:27179644:ACCT:A	donor_loss	1.0000
7:27179645:C:CT	donor_loss	1.0000
7:27171928:C:CA	donor_gain	0.9900
7:27172170:TTGC:T	acceptor_gain	0.9900
7:27172171:TGC:T	acceptor_gain	0.9900
7:27172172:GCC:G	acceptor_loss	0.9900
7:27172174:C:CC	acceptor_gain	0.9900
7:27172175:T:A	acceptor_loss	0.9900
7:27172181:G:C	acceptor_gain	0.9900
7:27172181:G:GC	acceptor_gain	0.9900
7:27173343:GCTTA:G	donor_loss	0.9900
7:27173344:CTTAC:C	donor_loss	0.9900
7:27173345:TTACC:T	donor_loss	0.9900
7:27173346:TACC:T	donor_loss	0.9900
7:27173347:A:AC	donor_gain	0.9900
7:27173347:AC:A	donor_gain	0.9900
7:27173347:ACCC:A	donor_loss	0.9900
7:27173348:C:CC	donor_gain	0.9900
7:27173348:CC:C	donor_gain	0.9900
7:27179644:A:AC	donor_gain	0.9900
7:27179645:C:CC	donor_gain	0.9900
7:27172169:ATTGC:A	acceptor_gain	0.9800
7:27172172:GC:G	acceptor_gain	0.9800

AlphaMissense

2608 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:27171953:T:A	K393N	1.000
7:27171953:T:G	K393N	1.000
7:27171955:T:C	K393E	1.000
7:27171956:C:A	K392N	1.000
7:27171956:C:G	K392N	1.000
7:27171958:T:C	K392E	1.000
7:27171960:A:G	L391P	1.000
7:27171962:T:A	K390N	1.000
7:27171962:T:G	K390N	1.000
7:27171963:T:A	K390I	1.000
7:27171964:T:C	K390E	1.000
7:27171964:T:G	K390Q	1.000
7:27171965:C:A	M389I	1.000
7:27171965:C:G	M389I	1.000
7:27171965:C:T	M389I	1.000
7:27171966:A:C	M389R	1.000
7:27171966:A:G	M389T	1.000
7:27171966:A:T	M389K	1.000
7:27171968:C:A	R388S	1.000
7:27171968:C:G	R388S	1.000
7:27171969:C:A	R388M	1.000
7:27171969:C:G	R388T	1.000
7:27171970:T:A	R388W	1.000
7:27171970:T:C	R388G	1.000
7:27171972:C:A	R387L	1.000
7:27171972:C:G	R387P	1.000
7:27171973:G:A	R387C	1.000
7:27171973:G:C	R387G	1.000
7:27171973:G:T	R387S	1.000
7:27171974:G:C	N386K	1.000

dbSNP variants (sampled 300 via entrez): RS1000620358 (7:27175060 C>T), RS1000868533 (7:27172972 G>A,T), RS1000972643 (7:27175463 T>C), RS1001204952 (7:27177636 C>T), RS1001287859 (7:27172741 T>C), RS1001322326 (7:27173238 C>A,T), RS1001589195 (7:27178136 G>A,T), RS1001748905 (7:27172736 G>A,C), RS1002244233 (7:27176894 C>T), RS1002703407 (7:27176523 A>T), RS1002835168 (7:27170176 C>G), RS1003527586 (7:27179202 T>C), RS1003665653 (7:27174085 C>A,T), RS1003676880 (7:27173784 C>T), RS1003781721 (7:27174267 A>T)

Disease associations

OMIM: gene MIM:142957 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
female reproductive system disorder	Limited	Autosomal dominant

Mondo (1): female reproductive system disorder (MONDO:0002263)

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST001786_29	Dental caries	7.000000e-06
GCST001786_9	Dental caries	4.000000e-06
GCST007706_27	Mean arterial pressure	2.000000e-12
GCST007707_30	Hypertension	1.000000e-08
GCST009685_20	Hypertension	7.000000e-09
GCST90020025_741	Waist-to-hip ratio adjusted for BMI	7.000000e-09
GCST90020027_1344	Waist-hip index	2.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006340	mean arterial pressure
EFO:0007788	BMI-adjusted waist-hip ratio

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D005831	Genital Diseases, Female	C12.050.351.500; C12.100.250

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression, affects cotreatment, increases methylation, decreases methylation	4
sodium arsenite	decreases expression	3
Diethylstilbestrol	affects binding, increases reaction, increases expression	3
Estradiol	affects binding, increases reaction, increases expression, decreases reaction	3
Progesterone	affects cotreatment, decreases expression, increases reaction, affects localization, affects reaction (+1 more)	3
Estrogens	increases reaction, increases expression, affects cotreatment, decreases expression	2
Methoxychlor	increases reaction, decreases expression, increases expression, affects binding, decreases reaction	2
Medroxyprogesterone Acetate	affects cotreatment, increases expression, decreases reaction	2
Cadmium Chloride	decreases expression	2
aristolochic acid I	decreases expression	1
dimethylselenide	increases expression, increases oxidation	1
arsenite	increases methylation	1
cobaltous chloride	increases expression	1
butyraldehyde	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression	1
brequinar	decreases expression	1
abrine	decreases expression	1
jinfukang	increases expression	1
(+)-JQ1 compound	decreases expression	1
theaflavin-3,3’-digallate	affects expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Calcitriol	affects binding, increases expression	1
Cisplatin	increases expression	1
Copper	increases reaction, affects cotreatment, decreases expression	1
Lead	decreases expression	1
Ozone	increases expression, increases oxidation	1
Testosterone	decreases expression	1
Tretinoin	increases expression	1
Valproic Acid	decreases methylation	1

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A2W4	SEES3-1V human HOXA10, clone1	Embryonic stem cell	Male
CVCL_A2W5	SEES3-1V human HOXA10, clone2	Embryonic stem cell	Male
CVCL_A2W6	SEES3-1V human HOXA10, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02233283	Not specified	COMPLETED	Effect of Modifications of Nutritional Intake Upon Reproductive Hormones in Normal Women
NCT03584529	Not specified	UNKNOWN	Association Between Vitamin D and the Development of Uterine Fibroids
NCT03586947	Not specified	UNKNOWN	Association Between Vitamin D and the Risk of Uterine Fibroids
NCT04678414	Not specified	ACTIVE_NOT_RECRUITING	Infertility Survey Among Reproductive Age Women With Gynecological and Breast Cancer
NCT07472842	Not specified	RECRUITING	Study on the Outcomes of Patients Treated in Gynecological Emergency Departments for Pelvic Endometriosis or Suspected Pelvic Endometriosis