HOXA7

Summary

HOXA7 (homeobox A7, HGNC:5108) is a protein-coding gene on chromosome 7p15.2, encoding Homeobox protein Hox-A7 (P31268). 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 which may regulate gene expression, morphogenesis, and differentiation. For example, the encoded protein represses the transcription of differentiation-specific genes during keratinocyte proliferation, but this repression is then overcome by differentiation signals. This gene is highly similar to the antennapedia (Antp) gene of Drosophila.

Source: NCBI Gene 3204 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 25 total
• Transcription factor: yes — 15 downstream targets (CollecTRI)
• MANE Select transcript: NM_006896

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5108
Approved symbol	HOXA7
Name	homeobox A7
Location	7p15.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000122592
Ensembl biotype	protein_coding
OMIM	142950
Entrez	3204

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000242159, ENST00000519842, ENST00000523796

RefSeq mRNA: 1 — MANE Select: NM_006896 NM_006896

CCDS: CCDS5408

Canonical transcript exons

ENST00000242159 — 2 exons

Exon	Start	End
ENSE00000832090	27153716	27155222
ENSE00000832091	27156167	27156675

Expression profiles

Bgee: expression breadth ubiquitous, 184 present calls, max score 91.76.

FANTOM5 (CAGE): breadth broad, TPM avg 1.5061 / max 33.4380, expressed in 600 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
83304	1.4465	590
83300	0.0335	7
83299	0.0261	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	91.76	gold quality
mucosa of transverse colon	UBERON:0004991	90.37	gold quality
secondary oocyte	CL:0000655	89.80	gold quality
sperm	CL:0000019	89.79	silver quality
biceps brachii	UBERON:0001507	87.70	gold quality
tendon of biceps brachii	UBERON:0008188	87.05	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	86.67	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.61	gold quality
male germ cell	CL:0000015	86.38	silver quality
right adrenal gland	UBERON:0001233	86.12	gold quality
metanephros cortex	UBERON:0010533	85.99	gold quality
right adrenal gland cortex	UBERON:0035827	85.76	gold quality
left adrenal gland	UBERON:0001234	85.70	gold quality
left adrenal gland cortex	UBERON:0035825	85.61	gold quality
left uterine tube	UBERON:0001303	85.42	gold quality
hindlimb stylopod muscle	UBERON:0004252	85.30	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.98	gold quality
adrenal cortex	UBERON:0001235	84.83	gold quality
transverse colon	UBERON:0001157	83.93	gold quality
adrenal gland	UBERON:0002369	83.84	gold quality
gastrocnemius	UBERON:0001388	83.15	gold quality
muscle of leg	UBERON:0001383	82.91	gold quality
popliteal artery	UBERON:0002250	81.17	gold quality
tibial artery	UBERON:0007610	81.15	gold quality
muscle organ	UBERON:0001630	81.04	gold quality
skin of abdomen	UBERON:0001416	80.85	gold quality
adult mammalian kidney	UBERON:0000082	80.56	gold quality
corpus epididymis	UBERON:0004359	80.12	gold quality
skin of leg	UBERON:0001511	79.98	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	79.69	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.04

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

15 targets.

Target	Regulation
ACTB
CAT
CDH1	Activation
CDKN1B
EGFR	Activation
EPB41
FN1
HOXA7
IVL	Activation
KRT10	Activation
MEIS1	Activation
PCGF2
TERT	Unknown
TGM1	Repression
VIM	Activation

JASPAR motifs

Motif	Name	Family
MA1498.1	HOXA7	HOX
MA1498.2	HOXA7	HOX
MA1498.3	HOXA7	HOX

JASPAR matrix evidence (PMIDs): PMID:18585359

Upstream regulators (CollecTRI, top): BCOR, CXXC1, DNMT1, EZH2, HOXA7, KDM6A, KMT2A, PCGF2, RARA, TET1, TFAP2A

miRNA regulators (miRDB)

65 targeting HOXA7, 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-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4425	100.00	67.59	1049
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-607	99.97	73.62	5593
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-6752-5P	99.59	67.32	1243
HSA-MIR-762	99.58	66.61	1994

Literature-anchored findings (GeneRIF, showing 22)

• B-lineage development can proceed in t(4;11) leukemic blasts in the absence of HOX-A gene expression. (PMID:14562113)
• Hox A7-sustained expression disturbs the regulation of cell adhesive and migratory capacities on fibronectin during early differentiation. (PMID:14704364)
• Study reveals the preferential expression of HOXA7 by germinal vesicle (GV) oocytes. (PMID:16597639)
• HOXA7 staining of tumor cell nuclei is correlated significantly with improved disease-specific survival, which is suggestive of the biological and potentially clinical importance of subcellular HOXA7 localization. (PMID:17959889)
• found evidence for association of bone geometry variation with an SNP in ENPP1, a gene in the mineralization pathway. The alteration of a binding site of the deregulator of extracellular matrix HOXA7 warrants further investigation (PMID:19888898)
• The homeodomain and N- and C-termini are critical to transcriptional activation by Hoxa1 protein. The N-terminus also modulates interaction with Pbx1a protein during DNA-binding. (PMID:20336696)
• A novel mechanistic role for HOXA7 in modulating granulosa cell proliferation via upregulation of EGFR. (PMID:20540809)
• HOXA7, PIXT1 and PRRX1 homeobox genes have different patterns of expression in oral squamous cell carcinomas depending on its histological features. (PMID:21323949)
• Several targets of MLL fusions, MEIS1, HOXA7, HOXA9, and HOXA10 are functionally related and have been implicated in leukemias. Each of the four genes was knocked down separately in the precursor B-cell leukemic line RS4;11 expressing MLL-AF4. (PMID:21518888)
• Taken together, these results support the notion that down-regulation of PCGF2 is sufficient to induce granulocytic differentiation of HL-60 cells via de-repression of HOXA7 gene expression. (PMID:22085718)
• Data show that up-regulation of the HOXA7, HOXA9, HOXA11, and PBX3 resulting from the down-regulation of miR-181 family members probably contribute to the poor prognosis of patients with nonfavorable cytogenetically abnormal AML (CA-AML). (PMID:22251480)
• Hoxa7, Hoxa9 and Hox cofactor Meis1 were identified as AP-2alpha target genes, which are involved in myeloid leukemogenesis. (PMID:23660297)
• This finding contributes to our understanding of the role HOXA7 plays in regulating the proliferation of ER-positive cancer cells. (PMID:24099775)
• variants in the HOXA7 and HOXA9 genes are not common in Chinese women with Mullerian duct abnormalities (PMID:25246116)
• HOXA7 promotes cell proliferation, and these changes were mediated by cyclin E1/CDK2 (PMID:25501982)
• HOXA7 might be a new gene candidate that influences the maturation of acute myeloid leukemia. (PMID:26828989)
• data suggest that HOXA7 could serve as a diagnostic marker for OSCC or a treatment target (PMID:28529281)
• Silencing of HOTAIR and HOXA7 could effectively inhibit tumor growth and increase chemosensitivity of ovarian tumors in nude mice. (PMID:29455183)
• Study found the miR-144-3p expression was reduced in neuroblastoma (NB) tissues and cell lines and resulted in the stimulation of cell proliferation, cell cycle progression, and cell migration in vitro. Homeobox protein A7 (HOXA7) was validated as a direct target of miR-144-3p. Results demonstrated the tumor suppressive role of miR-144-3p in NB. (PMID:30720179)
• Correlation of miR-181a and three HOXA genes as useful biomarkers in acute myeloid leukemia. (PMID:31670914)
• MiR-193a-5p suppresses cell proliferation and induces cell apoptosis by regulating HOXA7 in human ovarian cancer. (PMID:32305054)
• CircPAPPA Regulates the Proliferation, Migration, Invasion, Apoptosis, and Cell Cycle of Trophoblast Cells Through the miR-3127-5p/HOXA7 Axis. (PMID:34978042)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Hoxa7	ENSMUSG00000038236
rattus_norvegicus	Hoxa7	ENSRNOG00000046361

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), 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), HOXC4 (ENSG00000198353)

Protein

Protein identifiers

Homeobox protein Hox-A7 — P31268 (reviewed: P31268)

Alternative names: Homeobox protein Hox 1.1, Homeobox protein Hox-1A

All UniProt accessions (2): E5RHM9, P31268

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 Antp homeobox family.

RefSeq proteins (1): NP_008827* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001356	HD	Domain
IPR001827	Homeobox_Antennapedia_CS	Conserved_site
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR017970	Homeobox_CS	Conserved_site
IPR017995	Homeobox_antennapedia	Family
IPR020479	HD_metazoa	Domain
IPR050296	Antp_homeobox	Family

Pfam: PF00046

UniProt features (13 total): sequence conflict 6, compositionally biased region 2, chain 1, DNA-binding region 1, region of interest 1, short sequence motif 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P31268-F1	66.06	0.28

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 280 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GSE45365_NK_CELL_VS_BCELL_DN, RNGTGGGC_UNKNOWN, MODULE_97, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, MULLIGHAN_NPM1_SIGNATURE_3_UP, YAATNRNNNYNATT_UNKNOWN, ACTACCT_MIR196A_MIR196B, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, PAX4_01, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_REGULATION_OF_EPIDERMIS_DEVELOPMENT, GCANCTGNY_MYOD_Q6

GO Biological Process (13): negative regulation of transcription by RNA polymerase II (GO:0000122), angiogenesis (GO:0001525), negative regulation of cell-matrix adhesion (GO:0001953), negative regulation of leukocyte migration (GO:0002686), regulation of transcription by RNA polymerase II (GO:0006357), anterior/posterior pattern specification (GO:0009952), negative regulation of keratinocyte differentiation (GO:0045617), negative regulation of monocyte differentiation (GO:0045656), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of transcription by RNA polymerase II (GO:0045944), embryonic skeletal system morphogenesis (GO:0048704), stem cell differentiation (GO:0048863), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (9): 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), sequence-specific DNA binding (GO:0043565), DNA-binding transcription factor binding (GO:0140297), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)

GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), nuclear membrane (GO:0031965)

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
regulation of DNA-templated transcription	3
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
DNA-templated transcription	2
cellular anatomical structure	2
negative regulation of DNA-templated transcription	1
blood vessel morphogenesis	1
anatomical structure formation involved in morphogenesis	1
regulation of cell-matrix adhesion	1
cell-matrix adhesion	1
negative regulation of cell-substrate adhesion	1
negative regulation of immune system process	1
regulation of leukocyte migration	1
negative regulation of cell migration	1
leukocyte migration	1
regionalization	1
keratinocyte differentiation	1
negative regulation of epidermal cell differentiation	1
regulation of keratinocyte differentiation	1
negative regulation of multicellular organismal process	1
negative regulation of myeloid leukocyte differentiation	1
monocyte differentiation	1
regulation of monocyte differentiation	1
negative regulation of RNA biosynthetic process	1
positive regulation of DNA-templated transcription	1
embryonic organ morphogenesis	1
skeletal system morphogenesis	1
embryonic skeletal system development	1
cell differentiation	1
regulation of gene expression	1
regulation of RNA 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
DNA binding	1
transcription factor binding	1

Protein interactions and networks

STRING

1222 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HOXA7	MEIS1	O00470	898
HOXA7	HOXA9	P31269	701
HOXA7	MLLT1	Q03111	685
HOXA7	NUP98	P52948	682
HOXA7	PBX1	P40424	677
HOXA7	HELLS	Q9NRZ9	611
HOXA7	PSIP1	O75475	573
HOXA7	TASP1	Q9H6P5	570
HOXA7	EGFR	P00533	551
HOXA7	LPCAT3	Q6P1A2	549
HOXA7	NSD1	Q96L73	546
HOXA7	PHF23	Q9BUL5	534
HOXA7	AFDN	P55196	531
HOXA7	NUP214	P35658	525
HOXA7	MLLT10	P55197	519

IntAct

8 interactions, top by confidence:

A	B	Type	Score
SDCBP	HOXA7	psi-mi:“MI:0915”(physical association)	0.560
JUNB	HOXA7	psi-mi:“MI:0915”(physical association)	0.370
NPM1	HOXA7	psi-mi:“MI:0915”(physical association)	0.370
HOXA7	PEX5	psi-mi:“MI:0915”(physical association)	0.370
HOXA7	ANKRD28	psi-mi:“MI:0914”(association)	0.350
SDCBP	HOXA7	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (21): SDCBP (Two-hybrid), HOXA7 (Affinity Capture-RNA), ANKRD28 (Affinity Capture-MS), ZER1 (Affinity Capture-MS), ERBB2IP (Affinity Capture-MS), UBR2 (Affinity Capture-MS), NAGK (Affinity Capture-MS), PITRM1 (Affinity Capture-MS), UBR1 (Affinity Capture-MS), TRAF2 (Affinity Capture-MS), ANKRD17 (Affinity Capture-MS), ANKHD1 (Affinity Capture-MS), MAN2C1 (Affinity Capture-MS), ANKHD1-EIF4EBP3 (Affinity Capture-MS), FBXO7 (Affinity Capture-MS)

ESM2 similar proteins: A1YEY5, A1YFA5, A1YFI3, A1YG57, A1YGK7, A2T733, A2T7F3, A2T7P4, A6NJ46, O43248, P02830, P02832, P04476, P09019, P09021, P09023, P09024, P09629, P09632, P15861, P17481, P17509, P18864, P23812, P24344, P31259, P31267, P31268, P31270, P31311, P35453, P53545, P56915, P70217, P97334, Q02591, Q1KKX1, Q1KKY1, Q1KKY3, Q1KKZ5

Diamond homologs: A1L2P5, A1YER7, A1YF08, A1YFD8, A1YFY3, A1YG85, A2D4P8, A2D5I1, A2D5K9, A2D5Y4, A2T6X6, A2T756, A8DT10, A9L937, B0VXK3, O13074, O42365, O42367, O42368, O42370, O43364, O43365, O57374, O93353, P02830, P02831, P06798, P09013, P09014, P09016, P09019, P09020, P09021, P09026, P09027, P09067, P09070, P09074, P09079, P09080

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
HOXA7	“down-regulates quantity by repression”	KRT10	“transcriptional regulation”
HOXA7	“down-regulates quantity by repression”	IVL	“transcriptional regulation”
HOXA7	“down-regulates quantity by repression”	TGM1	“transcriptional regulation”
KDM6A	“up-regulates quantity by expression”	HOXA7	“transcriptional regulation”
BCOR	“down-regulates quantity by repression”	HOXA7	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	24
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

242 predictions. Top by Δscore:

Variant	Effect	Δscore
7:27155218:AGGTC:A	acceptor_gain	1.0000
7:27155219:GGTC:G	acceptor_gain	1.0000
7:27155220:GTC:G	acceptor_gain	1.0000
7:27155221:TC:T	acceptor_gain	1.0000
7:27155222:CC:C	acceptor_gain	1.0000
7:27155223:C:CC	acceptor_gain	1.0000
7:27155223:C:T	acceptor_gain	1.0000
7:27155230:C:CT	acceptor_gain	1.0000
7:27155231:A:T	acceptor_gain	1.0000
7:27155234:CA:C	acceptor_gain	1.0000
7:27155235:A:AC	acceptor_gain	1.0000
7:27155235:A:C	acceptor_gain	1.0000
7:27156162:CCTA:C	donor_loss	1.0000
7:27156163:CTAC:C	donor_loss	1.0000
7:27156164:TA:T	donor_loss	1.0000
7:27156166:C:CT	donor_loss	1.0000
7:27156168:TGAAG:T	donor_gain	1.0000
7:27155245:A:C	acceptor_gain	0.9900
7:27156161:GCCTA:G	donor_loss	0.9800
7:27155238:C:CT	acceptor_gain	0.9700
7:27156165:A:AC	donor_gain	0.9700
7:27156166:C:CC	donor_gain	0.9700
7:27155219:GGTCC:G	acceptor_gain	0.9600
7:27155220:GTCC:G	acceptor_gain	0.9600
7:27155221:TCCT:T	acceptor_gain	0.9600
7:27155222:CCTG:C	acceptor_gain	0.9600
7:27155235:A:T	acceptor_gain	0.9600
7:27155223:CT:C	acceptor_gain	0.9500
7:27155224:T:A	acceptor_gain	0.9500
7:27155456:A:C	donor_gain	0.9000

AlphaMissense

1500 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:27155042:T:A	K187I	1.000
7:27155044:C:A	K186N	1.000
7:27155044:C:G	K186N	1.000
7:27155046:T:C	K186E	1.000
7:27155050:C:A	K184N	1.000
7:27155050:C:G	K184N	1.000
7:27155052:T:C	K184E	1.000
7:27155053:C:A	M183I	1.000
7:27155053:C:G	M183I	1.000
7:27155053:C:T	M183I	1.000
7:27155054:A:G	M183T	1.000
7:27155057:C:G	R182P	1.000
7:27155057:C:T	R182H	1.000
7:27155058:G:A	R182C	1.000
7:27155058:G:C	R182G	1.000
7:27155058:G:T	R182S	1.000
7:27155060:C:A	R181L	1.000
7:27155060:C:G	R181P	1.000
7:27155061:G:A	R181C	1.000
7:27155061:G:C	R181G	1.000
7:27155061:G:T	R181S	1.000
7:27155062:G:C	N180K	1.000
7:27155062:G:T	N180K	1.000
7:27155063:T:A	N180I	1.000
7:27155063:T:C	N180S	1.000
7:27155063:T:G	N180T	1.000
7:27155064:T:C	N180D	1.000
7:27155064:T:G	N180H	1.000
7:27155065:C:A	Q179H	1.000
7:27155065:C:G	Q179H	1.000

dbSNP variants (sampled 300 via entrez): RS1000292300 (7:27158142 T>C), RS1000360737 (7:27156224 C>A,T), RS1000568757 (7:27156976 C>T), RS1000580191 (7:27156738 G>A,T), RS1002304049 (7:27157693 G>A), RS1002455348 (7:27157405 C>T), RS1002480428 (7:27154692 G>A,T), RS1002511391 (7:27154475 C>T), RS1002575394 (7:27154400 T>C), RS1003482076 (7:27153503 C>A), RS1003864028 (7:27158606 A>C,G), RS1004801447 (7:27153415 A>G), RS1005831656 (7:27157037 C>T), RS1006250755 (7:27156340 C>A), RS1006750635 (7:27156721 A>G,T)

Disease associations

OMIM: gene MIM:142950 | 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
Cadmium	decreases expression, increases abundance, increases expression	3
Nickel	decreases expression	2
Cadmium Chloride	decreases expression, increases abundance	2
bisphenol F	affects cotreatment, decreases expression	1
testosterone enanthate	affects expression	1
apocarotenal	increases expression	1
deoxynivalenol	decreases reaction, increases expression	1
ferrous chloride	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
2-palmitoylglycerol	increases expression	1
AG 1879	decreases reaction, increases expression	1
abrine	decreases expression	1
MRK 003	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Dexamethasone	affects cotreatment, decreases expression	1
Hydrogen Peroxide	affects expression	1
Indomethacin	affects cotreatment, decreases expression	1
Lipopolysaccharides	decreases expression, affects response to substance, increases expression	1
Phenobarbital	decreases expression	1
Tretinoin	increases expression	1
Valproic Acid	increases expression	1
Vitamin E	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
beta Carotene	increases expression	1

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A2X6	SEES3-1V human HOXA7, clone1	Embryonic stem cell	Male
CVCL_A2X7	SEES3-1V human HOXA7, clone2	Embryonic stem cell	Male
CVCL_A2X8	SEES3-1V human HOXA7, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

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