DPRX

Summary

DPRX (divergent-paired related homeobox, HGNC:32166) is a protein-coding gene on chromosome 19q13.42, encoding Divergent paired-related homeobox (A6NFQ7). Transcription factor that acts as a repressor.

Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the DPRX homeobox gene family. Evidence of mRNA expression has not yet been found for this gene. Multiple, related processed pseudogenes have been found which are thought to reflect expression of this gene in the germ line or embryonic cells.

Source: NCBI Gene 503834 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 41 total — 1 pathogenic
• MANE Select transcript: NM_001012728

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32166
Approved symbol	DPRX
Name	divergent-paired related homeobox
Location	19q13.42
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000204595
Ensembl biotype	protein_coding
OMIM	611165
Entrez	503834

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000376650, ENST00000710707

RefSeq mRNA: 1 — MANE Select: NM_001012728 NM_001012728

CCDS: CCDS33103

Canonical transcript exons

ENST00000376650 — 3 exons

Exon	Start	End
ENSE00001471236	53634531	53634685
ENSE00003978239	53636596	53637014
ENSE00004012980	53631999	53632134

Expression profiles

Bgee: expression breadth broad, 51 present calls, max score 86.61.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.61	gold quality
placenta	UBERON:0001987	61.58	gold quality
apex of heart	UBERON:0002098	58.84	gold quality
skeletal muscle tissue	UBERON:0001134	53.59	gold quality
muscle of leg	UBERON:0001383	53.50	gold quality
gastrocnemius	UBERON:0001388	53.28	gold quality
muscle tissue	UBERON:0002385	47.43	gold quality
omental fat pad	UBERON:0010414	45.24	gold quality
adipose tissue	UBERON:0001013	44.41	gold quality
subcutaneous adipose tissue	UBERON:0002190	44.03	gold quality
granulocyte	CL:0000094	43.57	silver quality
thoracic mammary gland	UBERON:0005200	43.45	gold quality
right lung	UBERON:0002167	43.26	gold quality
heart left ventricle	UBERON:0002084	42.77	gold quality
cortical plate	UBERON:0005343	41.10	gold quality
bone marrow cell	CL:0002092	38.71	gold quality
upper lobe of left lung	UBERON:0008952	38.63	gold quality
sural nerve	UBERON:0015488	38.24	gold quality
mucosa of transverse colon	UBERON:0004991	38.11	silver quality
colonic epithelium	UBERON:0000397	37.20	gold quality
hindlimb stylopod muscle	UBERON:0004252	36.95	silver quality
heart	UBERON:0000948	36.93	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
lower esophagus muscularis layer	UBERON:0035833	36.37	gold quality
lower esophagus	UBERON:0013473	36.30	gold quality
lung	UBERON:0002048	36.15	gold quality
mucosa of stomach	UBERON:0001199	35.86	silver quality
right uterine tube	UBERON:0001302	35.82	gold quality
prostate gland	UBERON:0002367	35.74	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-3929	yes	350.54
E-ANND-3	no	0.63

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA1480.1	DPRX	Paired-related HD factors
MA1480.2	DPRX	Paired-related HD factors

JASPAR matrix evidence (PMIDs): PMID:18585359

Cross-species orthologs

0 orthologs

Paralogs (50): ARX (ENSG00000004848), PAX6 (ENSG00000007372), PAX7 (ENSG00000009709), ALX4 (ENSG00000052850), GSC2 (ENSG00000063515), PITX1 (ENSG00000069011), PAX2 (ENSG00000075891), RHOXF1 (ENSG00000101883), CRX (ENSG00000105392), EVX1 (ENSG00000106038), PAX4 (ENSG00000106331), NOBOX (ENSG00000106410), PITX3 (ENSG00000107859), PHOX2B (ENSG00000109132), OTX1 (ENSG00000115507), PRRX1 (ENSG00000116132), VSX2 (ENSG00000119614), ESX1 (ENSG00000123576), PAX8 (ENSG00000125618), PAX1 (ENSG00000125813), RHOXF2 (ENSG00000131721), GSC (ENSG00000133937), RAX (ENSG00000134438), PAX3 (ENSG00000135903), ALX3 (ENSG00000156150), HESX1 (ENSG00000163666), PITX2 (ENSG00000164093), UNCX (ENSG00000164853), PHOX2A (ENSG00000165462), OTX2 (ENSG00000165588), DRGX (ENSG00000165606), PRRX2 (ENSG00000167157), SHOX2 (ENSG00000168779), OTP (ENSG00000171540), RAX2 (ENSG00000173976), EVX2 (ENSG00000174279), PROP1 (ENSG00000175325), ISX (ENSG00000175329), ALX1 (ENSG00000180318), MIXL1 (ENSG00000185155)

Protein

Protein identifiers

Divergent paired-related homeobox — A6NFQ7 (reviewed: A6NFQ7)

All UniProt accessions (1): A6NFQ7

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor that acts as a repressor.

Subcellular location. Nucleus.

Similarity. Belongs to the paired homeobox family.

RefSeq proteins (1): NP_001012746* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001356	HD	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR017970	Homeobox_CS	Conserved_site

Pfam: PF00046

UniProt features (4 total): chain 1, DNA-binding region 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NFQ7-F1	67.08	0.28

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 8 (showing top): GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, WP_PREIMPLANTATION_EMBRYO, GOMF_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY, GOMF_CIS_REGULATORY_REGION_SEQUENCE_SPECIFIC_DNA_BINDING, GOMF_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_DNA_BINDING, chr19q13, GOCC_CHROMATIN

GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (4): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677)

GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
DNA-templated transcription	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
regulation of transcription by RNA polymerase II	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
chromosome	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

244 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DPRX	TPRX1	Q8N7U7	818
DPRX	DUXB	A0A1W2PPF3	808
DPRX	LEUTX	A8MZ59	803
DPRX	NANOGNB	Q7Z5D8	721
DPRX	RHOXF2B	P0C7M4	506
DPRX	KIAA1549L	Q6ZVL6	467
DPRX	ZNF331	Q9NQX6	454
DPRX	FAM91A1	Q658Y4	445
DPRX	PLAC9	Q5JTB6	420
DPRX	SUGCT	Q9HAC7	412
DPRX	GSC2	O15499	408
DPRX	ANHX	E9PGG2	405
DPRX	RAX2	Q96IS3	405
DPRX	DUXA	A6NLW8	396
DPRX	NOBOX	O60393	389

IntAct

0 interactions, top by confidence:

BioGRID (17): ALB (Proximity Label-MS), KPRP (Proximity Label-MS), SEC16A (Proximity Label-MS), GAPDH (Proximity Label-MS), CALR (Proximity Label-MS), TUFM (Proximity Label-MS), SSBP1 (Proximity Label-MS), ZFHX3 (Proximity Label-MS), FLG2 (Proximity Label-MS), ZFHX4 (Proximity Label-MS), HRNR (Proximity Label-MS), SLX4 (Proximity Label-MS), EHMT2 (Proximity Label-MS), ARID3A (Proximity Label-MS), ZNF644 (Proximity Label-MS)

ESM2 similar proteins: A0A1W2PPF3, A0A1W2PPM1, A1A546, A1YGI6, A2T763, A5YC49, A6NFQ7, A6NJG6, D2HQI1, G3X9P6, O42173, O57374, P09632, P0C7M4, P10242, P14837, P17278, P31272, P31538, Q1KKS8, Q28ET4, Q28G02, Q3LTE0, Q3UT54, Q4JM65, Q4KL20, Q5TM83, Q5TM84, Q5W1J6, Q68EH7, Q6NSW7, Q80Z64, Q8IUE1, Q8JH55, Q8JIT7, Q8JJ26, Q8MIB7, Q8MIB8, Q8MIE9, Q91685

Diamond homologs: A0A1W2PPK0, A0A1W2PPM1, A1A546, A1YEY5, A1YFI3, A1YG57, A1YGA2, A2T733, A2T777, A2T7P4, A6NFQ7, G5EC89, L8E946, O14813, O15499, O35690, O42250, O42356, O42357, O42477, O70137, O73917, O75360, O95076, O97670, P0DMV5, P26367, P26630, P29454, P41935, P47237, P47238, P53544, P53545, P53546, P54366, P55813, P55864, P56915, P56916

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	36
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
599534	NM_001012728.2(DPRX):c.466C>T (p.Arg156Ter)	Pathogenic

SpliceAI

211 predictions. Top by Δscore:

Variant	Effect	Δscore
19:53634526:TCAA:T	acceptor_loss	1.0000
19:53634527:CAA:C	acceptor_loss	1.0000
19:53634528:A:AG	acceptor_gain	1.0000
19:53634528:AAG:A	acceptor_gain	1.0000
19:53634529:A:AG	acceptor_loss	1.0000
19:53634529:A:G	acceptor_gain	1.0000
19:53634677:G:GG	donor_gain	1.0000
19:53634681:TGCAG:T	donor_loss	1.0000
19:53634683:CAGGT:C	donor_loss	1.0000
19:53634684:AG:A	donor_loss	1.0000
19:53634685:GG:G	donor_loss	1.0000
19:53634686:GTT:G	donor_loss	1.0000
19:53634687:T:A	donor_loss	1.0000
19:53636593:CAG:C	acceptor_loss	1.0000
19:53636594:AGGTC:A	acceptor_loss	1.0000
19:53632131:AAAGG:A	donor_loss	0.9900
19:53632132:AAGG:A	donor_loss	0.9900
19:53632133:AGG:A	donor_loss	0.9900
19:53632135:G:C	donor_loss	0.9900
19:53632136:T:A	donor_loss	0.9900
19:53634526:TCAAG:T	acceptor_gain	0.9900
19:53634527:CAAGG:C	acceptor_gain	0.9900
19:53634528:AAGGC:A	acceptor_gain	0.9900
19:53634529:AGGC:A	acceptor_gain	0.9900
19:53634530:G:GT	acceptor_gain	0.9900
19:53634530:GGC:G	acceptor_gain	0.9900
19:53634530:GGCAA:G	acceptor_gain	0.9900
19:53634676:A:AG	donor_gain	0.9900
19:53636594:A:AG	acceptor_gain	0.9900
19:53636594:AG:A	acceptor_gain	0.9900

AlphaMissense

1257 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:53636602:T:C	F64L	0.998
19:53636604:C:A	F64L	0.998
19:53636604:C:G	F64L	0.998
19:53636616:A:C	R68S	0.998
19:53636616:A:T	R68S	0.998
19:53634569:T:C	F23L	0.997
19:53634571:C:A	F23L	0.997
19:53634571:C:G	F23L	0.997
19:53634605:T:C	F35L	0.996
19:53634607:C:A	F35L	0.996
19:53634607:C:G	F35L	0.996
19:53636603:T:C	F64S	0.996
19:53636608:A:G	N66D	0.996
19:53634570:T:C	F23S	0.995
19:53634570:T:G	F23C	0.995
19:53636607:G:C	K65N	0.995
19:53636607:G:T	K65N	0.995
19:53636615:G:C	R68T	0.995
19:53636599:T:A	W63R	0.994
19:53636599:T:C	W63R	0.994
19:53636609:A:G	N66S	0.994
19:53636610:T:A	N66K	0.994
19:53636610:T:G	N66K	0.994
19:53634594:T:C	L31P	0.993
19:53636609:A:C	N66T	0.992
19:53636614:A:G	R68G	0.992
19:53636601:G:C	W63C	0.991
19:53636601:G:T	W63C	0.991
19:53634623:C:T	P41S	0.990
19:53634651:C:A	A50D	0.990

dbSNP variants (sampled 300 via entrez): RS1000060939 (19:53616719 A>C), RS1000074107 (19:53616909 CTGG>C,CTGGTGG), RS1000083046 (19:53623492 G>C), RS1000118340 (19:53606956 C>A), RS1000125779 (19:53611799 A>C), RS1000293661 (19:53601837 G>A), RS1000333349 (19:53611849 C>T), RS1000353747 (19:53625827 G>A,T), RS1000369585 (19:53612639 G>A), RS1000406204 (19:53626070 G>A), RS1000414623 (19:53628967 C>A), RS1000422580 (19:53628818 A>C), RS1000555248 (19:53620101 G>A), RS1000587023 (19:53601724 C>T), RS1000628657 (19:53619919 C>CT)

Disease associations

OMIM: gene MIM:611165 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST011741_62	LDL cholesterol levels in HIV infection	4.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004611	low density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation, increases methylation	1

Clinical trials (associated diseases)

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