DMRTB1

Summary

DMRTB1 (DMRT like family B with proline rich C-terminal 1, HGNC:13913) is a protein-coding gene on chromosome 1p32.3, encoding Doublesex- and mab-3-related transcription factor B1 (Q96MA1).

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II and sex differentiation. Predicted to be located in chromatin. Predicted to be active in nucleus.

Source: NCBI Gene 63948 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 84 total
• MANE Select transcript: NM_033067

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13913
Approved symbol	DMRTB1
Name	DMRT like family B with proline rich C-terminal 1
Location	1p32.3
Locus type	gene with protein product
Status	Approved
Aliases	DMRT6
Ensembl gene	ENSG00000143006
Ensembl biotype	protein_coding
OMIM	614805
Entrez	63948

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000371445, ENST00000463126

RefSeq mRNA: 1 — MANE Select: NM_033067 NM_033067

CCDS: CCDS581

Canonical transcript exons

ENST00000371445 — 4 exons

Exon	Start	End
ENSE00000957644	53464637	53464847
ENSE00001455243	53466595	53467488
ENSE00001455255	53459399	53460030
ENSE00003588917	53461473	53461645

Expression profiles

Bgee: expression breadth broad, 28 present calls, max score 97.15.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3688 / max 254.4119, expressed in 19 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
2928	0.1558	10
2923	0.1553	8
2924	0.0202	6
2925	0.0171	5
2926	0.0125	5
2927	0.0062	3
201513	0.0017	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	97.15	gold quality
secondary oocyte	CL:0000655	95.95	gold quality
right testis	UBERON:0004534	94.74	gold quality
left testis	UBERON:0004533	94.10	gold quality
adult organism	UBERON:0007023	91.83	gold quality
testis	UBERON:0000473	91.06	gold quality
sperm	CL:0000019	87.09	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.67	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	78.98	gold quality
pancreatic ductal cell	CL:0002079	71.69	silver quality
epithelial cell of pancreas	CL:0000083	56.07	gold quality
ileal mucosa	UBERON:0000331	55.69	silver quality
cardiac muscle of right atrium	UBERON:0003379	55.00	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
tibialis anterior	UBERON:0001385	53.31	silver quality
myocardium	UBERON:0002349	50.53	gold quality
deltoid	UBERON:0001476	50.08	gold quality
nasal cavity epithelium	UBERON:0005384	47.03	gold quality
quadriceps femoris	UBERON:0001377	46.91	gold quality
skin of hip	UBERON:0001554	45.71	silver quality
vastus lateralis	UBERON:0001379	45.56	gold quality
sural nerve	UBERON:0015488	45.52	silver quality
ganglionic eminence	UBERON:0004023	45.32	gold quality
ventricular zone	UBERON:0003053	44.10	silver quality
layer of synovial tissue	UBERON:0007616	43.55	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
gingiva	UBERON:0001828	42.85	gold quality
substantia nigra pars compacta	UBERON:0001965	41.79	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.64

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

42 targeting DMRTB1, 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-551B-5P	99.96	71.28	3493
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-6516-3P	99.65	68.57	1238
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-12122	99.56	69.33	1672
HSA-MIR-548G-3P	99.48	68.67	2159
HSA-MIR-889-5P	99.41	68.75	1025
HSA-MIR-302A-5P	99.39	68.21	1913
HSA-MIR-3692-5P	99.29	67.04	1421
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-4758-3P	99.12	63.96	869
HSA-MIR-548AS-3P	99.12	69.12	2294
HSA-MIR-4478	99.07	65.16	2320
HSA-MIR-6814-5P	99.03	66.68	1273
HSA-MIR-6749-3P	99.00	65.73	1443
HSA-MIR-4738-3P	98.98	67.98	1846
HSA-MIR-224-3P	98.91	68.42	1815
HSA-MIR-522-3P	98.91	68.56	1817

Literature-anchored findings (GeneRIF, showing 1)

• role in the entry of spermatogonia into meiosis (PMID:30920770)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Dmrtb1	ENSMUSG00000028610
rattus_norvegicus	Dmrtb1	ENSRNOG00000023213
caenorhabditis_elegans		WBGENE00019521
caenorhabditis_elegans		WBGENE00022060

Paralogs (8): DMRT3 (ENSG00000064218), DMRT1 (ENSG00000137090), DMRTC2 (ENSG00000142025), DMRTA2 (ENSG00000142700), DMRT2 (ENSG00000173253), DMRTA1 (ENSG00000176399), DMRTC1B (ENSG00000184911), DMRTC1 (ENSG00000269502)

Protein

Protein identifiers

Doublesex- and mab-3-related transcription factor B1 — Q96MA1 (reviewed: Q96MA1)

All UniProt accessions (1): Q96MA1

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Nucleus.

Tissue specificity. Testis.

Similarity. Belongs to the DMRT family.

RefSeq proteins (1): NP_149056* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001275	DM_DNA-bd	Domain
IPR026607	DMRT	Family
IPR036407	DM_DNA-bd_sf	Homologous_superfamily

Pfam: PF00751

UniProt features (7 total): compositionally biased region 3, 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-Q96MA1-F1	59.82	0.17

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 68 (showing top): TGCGCANK_UNKNOWN, GGGTGGRR_PAX4_03, CAGCAGG_MIR370, GOBP_SEX_DIFFERENTIATION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, NKX3A_01, TTCNRGNNNNTTC_HSF_Q6, HSF2_01, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, HSF1_01, MARTENS_TRETINOIN_RESPONSE_UP, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, MIR4447, MIR6749_3P

GO Biological Process (3): regulation of transcription by RNA polymerase II (GO:0006357), sex differentiation (GO:0007548), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (6): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), metal ion binding (GO:0046872), DNA binding (GO:0003677), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565)

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
developmental process involved in reproduction	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
cation binding	1
nucleic acid binding	1
binding	1
DNA binding	1
chromosome	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

856 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DMRTB1	RBM46	Q8TBY0	606
DMRTB1	TRIML2	Q8N7C3	443
DMRTB1	SWT1	Q5T5J6	432
DMRTB1	TEX36	Q5VZQ5	425
DMRTB1	ARHGAP25	P42331	424
DMRTB1	FMR1NB	Q8N0W7	414
DMRTB1	STRA8	Q7Z7C7	411
DMRTB1	MEIOC	A2RUB1	397
DMRTB1	SOHLH2	Q9NX45	396
DMRTB1	TEX101	Q9BY14	375
DMRTB1	SAXO1	Q8IYX7	368
DMRTB1	PLD5	Q8N7P1	367
DMRTB1	TNP1	P09430	366
DMRTB1	MAEL	Q96JY0	366
DMRTB1	MAGEB17	A8MXT2	364

IntAct

61 interactions, top by confidence:

A	B	Type	Score
DMRTB1	TAE1	psi-mi:“MI:0915”(physical association)	0.560
PRP39	DMRTB1	psi-mi:“MI:0915”(physical association)	0.560
DMRTB1	GTS1	psi-mi:“MI:0915”(physical association)	0.560
DMRTB1	HSP42	psi-mi:“MI:0915”(physical association)	0.560
GTS1	DMRTB1	psi-mi:“MI:0915”(physical association)	0.560
HSP42	DMRTB1	psi-mi:“MI:0915”(physical association)	0.560
DMRTB1	PRP39	psi-mi:“MI:0915”(physical association)	0.560
	DMRTB1	psi-mi:“MI:0915”(physical association)	0.560
INCA1	DMRTB1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP8-1	DMRTB1	psi-mi:“MI:0915”(physical association)	0.560
TOX	DMRTB1	psi-mi:“MI:0915”(physical association)	0.560
DMRTB1	RAMAC	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-5	DMRTB1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-6	DMRTB1	psi-mi:“MI:0915”(physical association)	0.560
TLE5	DMRTB1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP21-2	DMRTB1	psi-mi:“MI:0915”(physical association)	0.560
DMRTB1	LENG8	psi-mi:“MI:0915”(physical association)	0.490
DMRTB1	IL16	psi-mi:“MI:0915”(physical association)	0.490
NIF3L1	DMRTB1	psi-mi:“MI:0915”(physical association)	0.490
VASP	DMRTB1	psi-mi:“MI:0915”(physical association)	0.490

BioGRID (143): DMRTB1 (Two-hybrid), DMRTB1 (Two-hybrid), DMRTB1 (Two-hybrid), DMRTB1 (Two-hybrid), DMRTB1 (Two-hybrid), DMRTB1 (Two-hybrid), DMRTB1 (Two-hybrid), DMRTB1 (Two-hybrid), DMRTB1 (Two-hybrid), DMRTB1 (Two-hybrid), DMRTB1 (Two-hybrid), DMRTB1 (Two-hybrid), DMRTB1 (Two-hybrid), DMRTB1 (Two-hybrid), C1orf94 (Two-hybrid)

ESM2 similar proteins: A2A9I7, A7X8C7, A7X8C9, A7XW16, C7EMF5, F6W2R2, O15054, O43151, O43474, O55087, O62651, O94993, P08151, P0DPQ3, P10284, P17483, P31259, P31276, P47806, P52947, P86478, P86479, P86480, P86481, P86496, Q00175, Q08DG5, Q0P670, Q1KKY2, Q5NCY0, Q5ND04, Q5SSZ7, Q60793, Q63449, Q6NZN1, Q6XP49, Q801F8, Q80WT2, Q8BG36, Q8BG87

Diamond homologs: A2A9A2, A2A9I7, A4QNP7, A6QQ94, A8TSS9, B0I1G7, B7ZS42, C0LZJ1, D4A218, F6W2R2, G5EEJ1, J7FCF0, O18214, P23023, P57690, P83758, P85119, Q18248, Q19291, Q2I327, Q2MJB4, Q32LE6, Q3LH63, Q4AE28, Q5UU75, Q5VZB9, Q6YHU8, Q71MM5, Q76L87, Q801F8, Q80WT2, Q8BG36, Q8CFG4, Q8CGW9, Q8IXT2, Q8JIR6, Q90WM5, Q96MA1, Q96SC8, Q9DFI0

SIGNOR signaling

0 interactions.

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	80
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

589 predictions. Top by Δscore:

Variant	Effect	Δscore
1:53460028:TTGG:T	donor_loss	1.0000
1:53460029:TGG:T	donor_loss	1.0000
1:53460030:GGT:G	donor_loss	1.0000
1:53460031:G:C	donor_loss	1.0000
1:53460031:G:GG	donor_gain	1.0000
1:53460032:T:A	donor_loss	1.0000
1:53461463:C:CA	acceptor_gain	1.0000
1:53461467:CTTTA:C	acceptor_loss	1.0000
1:53461468:TTTA:T	acceptor_loss	1.0000
1:53461469:TTAGT:T	acceptor_loss	1.0000
1:53461470:TA:T	acceptor_loss	1.0000
1:53461471:A:AG	acceptor_gain	1.0000
1:53461471:AGT:A	acceptor_gain	1.0000
1:53461471:AGTG:A	acceptor_loss	1.0000
1:53461471:AGTGC:A	acceptor_gain	1.0000
1:53461472:G:A	acceptor_loss	1.0000
1:53461472:G:GG	acceptor_gain	1.0000
1:53461472:GT:G	acceptor_gain	1.0000
1:53461472:GTG:G	acceptor_gain	1.0000
1:53461472:GTGC:G	acceptor_gain	1.0000
1:53461472:GTGCG:G	acceptor_gain	1.0000
1:53461641:GCTTG:G	donor_gain	1.0000
1:53461646:G:GA	donor_loss	1.0000
1:53461646:G:GG	donor_gain	1.0000
1:53461647:TGAGT:T	donor_loss	1.0000
1:53464618:T:TA	acceptor_gain	1.0000
1:53464621:T:A	acceptor_gain	1.0000
1:53464623:T:TA	acceptor_gain	1.0000
1:53464625:T:TA	acceptor_gain	1.0000
1:53464635:A:T	acceptor_loss	1.0000

AlphaMissense

2178 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:53459484:T:C	C11R	0.999
1:53459493:T:A	C14S	0.999
1:53459493:T:C	C14R	0.999
1:53459494:G:C	C14S	0.999
1:53459497:G:T	R15M	0.999
1:53459541:T:C	C30R	0.999
1:53459484:T:A	C11S	0.998
1:53459485:G:C	C11S	0.998
1:53459498:G:C	R15S	0.998
1:53459498:G:T	R15S	0.998
1:53459504:T:A	H17Q	0.998
1:53459504:T:G	H17Q	0.998
1:53459541:T:A	C30S	0.998
1:53459542:G:C	C30S	0.998
1:53459549:G:C	W32C	0.998
1:53459549:G:T	W32C	0.998
1:53459556:T:C	C35R	0.998
1:53459571:T:A	C40S	0.998
1:53459572:G:C	C40S	0.998
1:53459492:A:C	R13S	0.997
1:53459492:A:T	R13S	0.997
1:53459497:G:C	R15T	0.997
1:53459547:T:A	W32R	0.997
1:53459547:T:C	W32R	0.997
1:53459556:T:A	C35S	0.997
1:53459557:G:C	C35S	0.997
1:53459571:T:C	C40R	0.997
1:53459589:C:A	R46S	0.997
1:53459486:C:G	C11W	0.996
1:53459491:G:C	R13T	0.996

dbSNP variants (sampled 300 via entrez): RS1000396483 (1:53460475 G>T), RS1000546510 (1:53464409 G>A), RS1000693054 (1:53459444 G>C,T), RS1000729915 (1:53459182 T>A,C), RS1000939860 (1:53464131 A>C,G,T), RS1001307444 (1:53464743 C>T), RS1001542426 (1:53462624 T>C), RS1001637799 (1:53457879 G>A,C), RS1002343789 (1:53457851 C>A,T), RS1002384692 (1:53467404 T>C), RS1002396234 (1:53458109 G>T), RS1003238497 (1:53460782 G>A,C), RS1003254648 (1:53467037 A>G), RS1003539156 (1:53460331 C>CG), RS1003957270 (1:53460537 T>C)

Disease associations

OMIM: gene MIM:614805 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST000635_11	Response to statin therapy	8.000000e-06
GCST004069_8	Cerebrospinal fluid AB1-42 levels	2.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004670	beta-amyloid 1-42 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation, increases mutagenesis	2
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
bisphenol S	affects cotreatment, decreases methylation	1
Decitabine	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Lipopolysaccharides	affects cotreatment, affects response to substance, increases expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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