DMRTC1B

Summary

DMRTC1B (DMRT like family C1B, HGNC:31686) is a protein-coding gene on chromosome Xq13.1, encoding Doublesex- and mab-3-related transcription factor C1 (Q5HYR2).

Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in chromatin. Predicted to be active in nucleus.

Source: NCBI Gene 728656 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_001386972

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31686
Approved symbol	DMRTC1B
Name	DMRT like family C1B
Location	Xq13.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000184911
Ensembl biotype	protein_coding
Entrez	728656

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 2 nonsense_mediated_decay

ENST00000334036, ENST00000373532, ENST00000373533, ENST00000438696, ENST00000440247, ENST00000472595, ENST00000481112

RefSeq mRNA: 3 — MANE Select: NM_001386972 NM_001080851, NM_001370147, NM_001386972

CCDS: CCDS43971, CCDS94635

Canonical transcript exons

ENST00000334036 — 7 exons

Exon	Start	End
ENSE00001361867	72776890	72777248
ENSE00001683107	72845499	72845557
ENSE00001686349	72845872	72846005
ENSE00001689658	72846885	72846945
ENSE00002179619	72845042	72845199
ENSE00003621433	72847130	72847277
ENSE00003919825	72848263	72848803

Expression profiles

Bgee: expression breadth ubiquitous, 122 present calls, max score 95.79.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1204 / max 9.1062, expressed in 61 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
209734	0.1204	61

Top tissues by expression

130 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	95.79	gold quality
nucleus accumbens	UBERON:0001882	90.41	gold quality
pituitary gland	UBERON:0000007	89.72	gold quality
adenohypophysis	UBERON:0002196	89.21	gold quality
hypothalamus	UBERON:0001898	89.08	gold quality
prefrontal cortex	UBERON:0000451	88.56	gold quality
anterior cingulate cortex	UBERON:0009835	88.15	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	88.09	gold quality
frontal cortex	UBERON:0001870	87.85	gold quality
Brodmann (1909) area 9	UBERON:0013540	87.82	gold quality
caudate nucleus	UBERON:0001873	87.53	gold quality
putamen	UBERON:0001874	87.43	gold quality
cerebral cortex	UBERON:0000956	87.29	gold quality
amygdala	UBERON:0001876	87.27	gold quality
right frontal lobe	UBERON:0002810	87.23	gold quality
superior frontal gyrus	UBERON:0002661	87.16	gold quality
temporal lobe	UBERON:0001871	87.01	gold quality
brain	UBERON:0000955	86.08	gold quality
Ammon’s horn	UBERON:0001954	85.38	gold quality
primary visual cortex	UBERON:0002436	85.22	gold quality
cerebellar cortex	UBERON:0002129	80.55	gold quality
cerebellar hemisphere	UBERON:0002245	80.48	gold quality
cerebellum	UBERON:0002037	80.45	gold quality
right hemisphere of cerebellum	UBERON:0014890	80.27	gold quality
substantia nigra	UBERON:0002038	79.56	gold quality
right testis	UBERON:0004534	76.81	gold quality
islet of Langerhans	UBERON:0000006	75.96	gold quality
ventricular zone	UBERON:0003053	75.57	gold quality
cortical plate	UBERON:0005343	75.08	gold quality
left testis	UBERON:0004533	75.03	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.61

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

29 targeting DMRTC1B, 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-4795-3P	100.00	74.62	4024
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-4643	99.49	67.63	1791
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-1909-3P	99.03	66.56	1662
HSA-MIR-6761-5P	98.71	68.03	1504
HSA-MIR-7850-5P	98.12	67.28	1111
HSA-MIR-4421	97.99	64.89	701
HSA-MIR-4257	97.86	68.05	1190
HSA-MIR-5699-3P	97.81	65.00	861
HSA-MIR-4799-3P	97.78	65.97	893
HSA-MIR-3189-5P	97.55	66.71	655
HSA-MIR-4720-5P	97.46	65.67	893
HSA-MIR-5588-5P	97.46	65.70	913
HSA-MIR-4475	97.36	66.95	761
HSA-MIR-1243	97.07	65.44	719
HSA-MIR-3622A-3P	97.06	66.43	1000
HSA-MIR-3622B-3P	96.82	66.36	988

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
drosophila_melanogaster	dmrt99B	FBGN0039683
caenorhabditis_elegans		WBGENE00007776
caenorhabditis_elegans		WBGENE00017326
caenorhabditis_elegans		WBGENE00019521
caenorhabditis_elegans		WBGENE00022060

Paralogs (8): DMRT3 (ENSG00000064218), DMRT1 (ENSG00000137090), DMRTC2 (ENSG00000142025), DMRTA2 (ENSG00000142700), DMRTB1 (ENSG00000143006), DMRT2 (ENSG00000173253), DMRTA1 (ENSG00000176399), DMRTC1 (ENSG00000269502)

Protein

Protein identifiers

Doublesex- and mab-3-related transcription factor C1 — Q5HYR2 (reviewed: Q5HYR2)

All UniProt accessions (5): Q5HYR2, A0A0C4DG55, A0A1B0GX16, G3V190, H0YDN8

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Predominantly expressed in kidney, pancreas, ovary and testis. Detected in brain and in many other tissues.

Similarity. Belongs to the DMRT family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5HYR2-1	1	yes
Q5HYR2-2	2

RefSeq proteins (3): NP_001074320, NP_001357076, NP_001373901* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026607	DMRT	Family
IPR031577	DMRT-C1/C2_C	Domain

Pfam: PF15791

UniProt features (3 total): chain 1, region of interest 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5HYR2-F1	63.45	0.09

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 25 (showing top): GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, chrXq13, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, MIR196A_1_3P, MIR507, MIR4524A_3P, MIR557, MIR5699_3P, MIR4475, MIR3189_5P, MIR4421, GSE10422_WT_VS_BAFF_TRANSGENIC_LN_BCELL_UP, GSE20366_TREG_VS_TCONV_UP, GOMF_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY, GSE26669_CD4_VS_CD8_TCELL_IN_MLR_UP

GO Biological Process (1): regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (0):

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
chromosome	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

250 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DMRTC1B	UBN2	Q6ZU65	427
DMRTC1B	CHIC1	Q5VXU3	396
DMRTC1B	TTLL4	Q14679	389
DMRTC1B	CTPS2	Q9NRF8	336
DMRTC1B	RLIM	Q9NVW2	325
DMRTC1B	RFX2	P48378	321
DMRTC1B	SEL1L2	Q5TEA6	308
DMRTC1B	HS6ST2	Q96MM7	300
DMRTC1B	CDX4	O14627	296
DMRTC1B	DMRT1	Q9Y5R6	279
DMRTC1B	IL1RAPL1	Q9NZN1	270
DMRTC1B	SLC7A2	P52569	262
DMRTC1B	EFCAB5	A4FU69	245
DMRTC1B	TMEM125	Q96AQ2	245
DMRTC1B	WSCD1	Q658N2	244

IntAct

3 interactions, top by confidence:

A	B	Type	Score
DMRTC1	SIN3A	psi-mi:“MI:0915”(physical association)	0.370
DMRTC1	PTPN11	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (3): DMRTC1 (Two-hybrid), DMRTC1B (Two-hybrid), DMRTC1 (Affinity Capture-MS)

ESM2 similar proteins: A0A096LP49, A0A1B0GVZ6, A0A1W2PR82, A5PL33, A6NDZ8, A6NE82, A6NJB7, A6QP24, A8MYA2, A8MZG2, B2RW88, D4AAA5, H7C350, O43593, O60393, O75593, O88621, P0C1T1, P59942, Q0P5M0, Q2KIS6, Q32LE6, Q3UN58, Q3ZCQ2, Q5BMD4, Q5HYR2, Q5JPB2, Q5M844, Q5SZB4, Q5VZ46, Q6GQX2, Q6NS69, Q6PAC4, Q80TS7, Q8BT88, Q8CGW9, Q8IWN7, Q8IXT2, Q8IYS4, Q8N1L9

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, Q4QR87, Q5HYR2, Q5UU75, Q5VZB9, Q6YHU8, Q71MM5, Q76L87, Q801F8, Q80WT2, Q8BG36, Q8CFG4, Q8CGW9, Q8IXT2, Q8JIR6, Q90WM5, Q96MA1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1474 predictions. Top by Δscore:

Variant	Effect	Δscore
X:72845200:G:GG	donor_gain	1.0000
X:72845496:C:G	acceptor_gain	1.0000
X:72845497:A:AG	acceptor_gain	1.0000
X:72845497:AGCT:A	acceptor_gain	1.0000
X:72845497:AGCTG:A	acceptor_gain	1.0000
X:72845498:G:GA	acceptor_gain	1.0000
X:72845498:GCT:G	acceptor_gain	1.0000
X:72845498:GCTG:G	acceptor_gain	1.0000
X:72845498:GCTGG:G	acceptor_gain	1.0000
X:72846954:A:T	donor_gain	1.0000
X:72845131:G:GT	donor_gain	0.9900
X:72845131:GGA:G	donor_gain	0.9900
X:72845132:GAG:G	donor_gain	0.9900
X:72845197:TCAG:T	donor_loss	0.9900
X:72845198:CA:C	donor_gain	0.9900
X:72845198:CAGTG:C	donor_loss	0.9900
X:72845199:AGTG:A	donor_loss	0.9900
X:72845200:G:A	donor_loss	0.9900
X:72845201:TGAG:T	donor_loss	0.9900
X:72845202:GAGTG:G	donor_loss	0.9900
X:72845486:T:TA	acceptor_gain	0.9900
X:72845495:A:AG	acceptor_gain	0.9900
X:72845496:CA:C	acceptor_loss	0.9900
X:72845497:A:T	acceptor_loss	0.9900
X:72845498:GC:G	acceptor_gain	0.9900
X:72845554:GGAG:G	donor_gain	0.9900
X:72845555:G:GT	donor_gain	0.9900
X:72845557:GGT:G	donor_loss	0.9900
X:72845558:G:GA	donor_loss	0.9900
X:72845559:T:A	donor_loss	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1009696 (X:72793108 T>G), RS1011191 (X:72804534 C>G,T), RS1011192 (X:72804543 A>T), RS10556407 (X:72807289 CGAG>C), RS111254771 (X:72840625 A>G), RS111269034 (X:72801935 A>C), RS111437717 (X:72817897 T>A), RS111521282 (X:72841088 A>G), RS111547771 (X:72809082 A>G), RS111813604 (X:72813592 A>G), RS112116526 (X:72821105 T>A), RS112142053 (X:72830665 G>A), RS112142708 (X:72801934 C>A), RS112183524 (X:72802651 A>C), RS112186105 (X:72848201 C>G)

Disease associations

OMIM: gene `` | 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

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases methylation	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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