DMRT2
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Summary
DMRT2 (doublesex and mab-3 related transcription factor 2, HGNC:2935) is a protein-coding gene on chromosome 9p24.3, encoding Doublesex- and mab-3-related transcription factor 2 (Q9Y5R5). Transcriptional activator that directly regulates early activation of the myogenic determination gene MYF5 by binding in a sequence-specific manner to the early epaxial enhancer element of it.
The protein encoded by this gene belongs to the DMRT gene family, sharing a DM DNA-binding domain with Drosophila ‘doublesex’ (dsx) and C. elegans mab3, genes involved in sex determination in these organisms. Also, this gene is located in a region of the human genome (chromosome 9p24.3) associated with gonadal dysgenesis and XY sex reversal. Hence this gene is one of the candidates for sex-determining gene(s) on chr 9.
Source: NCBI Gene 10655 — RefSeq curated summary.
At a glance
- Gene–disease (curated): spondylocostal dysostosis (Limited, GenCC)
- GWAS associations: 20
- Clinical variants (ClinVar): 256 total — 2 pathogenic, 1 likely-pathogenic
- Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
- MANE Select transcript:
NM_181872
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2935 |
| Approved symbol | DMRT2 |
| Name | doublesex and mab-3 related transcription factor 2 |
| Location | 9p24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000173253 |
| Ensembl biotype | protein_coding |
| OMIM | 604935 |
| Entrez | 10655 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 10 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000259622, ENST00000302441, ENST00000358146, ENST00000382251, ENST00000382255, ENST00000412350, ENST00000634526, ENST00000634824, ENST00000635183, ENST00000910808, ENST00000910809, ENST00000910810
RefSeq mRNA: 10 — MANE Select: NM_181872
NM_001130865, NM_001370531, NM_001370532, NM_001370533, NM_001387557, NM_001387558, NM_001387559, NM_001387560, NM_006557, NM_181872
CCDS: CCDS6444, CCDS6445
Canonical transcript exons
ENST00000358146 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000927829 | 1051570 | 1052138 |
| ENSE00001203046 | 1053722 | 1053824 |
| ENSE00001409172 | 1056216 | 1057552 |
| ENSE00003916665 | 1050357 | 1050775 |
Expression profiles
Bgee: expression breadth ubiquitous, 174 present calls, max score 92.78.
FANTOM5 (CAGE): breadth broad, TPM avg 1.2239 / max 84.4928, expressed in 372 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 95819 | 1.0861 | 347 |
| 95821 | 0.0578 | 33 |
| 95822 | 0.0407 | 14 |
| 95820 | 0.0392 | 17 |
Top tissues by expression
233 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| kidney epithelium | UBERON:0004819 | 92.78 | gold quality |
| metanephros cortex | UBERON:0010533 | 91.78 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 89.51 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 86.33 | gold quality |
| biceps brachii | UBERON:0001507 | 84.62 | silver quality |
| buccal mucosa cell | CL:0002336 | 83.21 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 82.48 | silver quality |
| kidney | UBERON:0002113 | 82.47 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 82.39 | gold quality |
| quadriceps femoris | UBERON:0001377 | 79.32 | silver quality |
| cortex of kidney | UBERON:0001225 | 78.72 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 76.53 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 75.14 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 74.66 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 74.42 | gold quality |
| metanephros | UBERON:0000081 | 73.54 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 72.39 | gold quality |
| muscle of leg | UBERON:0001383 | 72.19 | gold quality |
| gastrocnemius | UBERON:0001388 | 71.24 | gold quality |
| adipose tissue | UBERON:0001013 | 70.58 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 70.06 | gold quality |
| renal medulla | UBERON:0000362 | 70.02 | gold quality |
| muscle tissue | UBERON:0002385 | 69.96 | gold quality |
| thymus | UBERON:0002370 | 69.86 | gold quality |
| apex of heart | UBERON:0002098 | 69.59 | gold quality |
| deltoid | UBERON:0001476 | 69.43 | silver quality |
| endothelial cell | CL:0000115 | 68.22 | silver quality |
| spinal cord | UBERON:0002240 | 67.85 | gold quality |
| bronchial epithelial cell | CL:0002328 | 67.73 | gold quality |
| sural nerve | UBERON:0015488 | 67.61 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 39.28 |
| E-CURD-114 | yes | 12.05 |
| E-ANND-3 | yes | 6.42 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
151 targeting DMRT2, 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-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| 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-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-8075 | 99.97 | 67.20 | 962 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
Functional genomics
ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 6)
- Evidence for the essential function of HSF1 in the transcriptional activation of TERRA and in telomere protection upon stress. (PMID:28369628)
- This study showed that 18p TERRA expression was marginally significantly associated with preoperative CEA and significantly associated with telomere length, rendering it a potential prognostic factor for long-term oncologic outcomes in CRC. (PMID:30946316)
- study confirms that TERRA corresponds to a large gene family transcribed from multiple chromosome ends where we identified two types of TERRA promoters, only one of which is regulated by DNA methylation (PMID:31350341)
- Long interspersed element-1 ribonucleoprotein particles protect telomeric ends in alternative lengthening of telomeres dependent cells. (PMID:31846834)
- TRF2 recruits nucleolar protein TCOF1 to coordinate telomere transcription and replication. (PMID:33082515)
- Protein Phosphatase 2A-Dependent Mitotic hnRNPA1 Dephosphorylation and TERRA Formation Facilitate Telomere Capping. (PMID:34933911)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dmrt2a | ENSDARG00000015072 |
| mus_musculus | Dmrt2 | ENSMUSG00000048138 |
| rattus_norvegicus | Dmrt2 | ENSRNOG00000016301 |
| drosophila_melanogaster | dmrt11E | FBGN0030477 |
| caenorhabditis_elegans | WBGENE00019521 | |
| caenorhabditis_elegans | WBGENE00022060 |
Paralogs (8): DMRT3 (ENSG00000064218), DMRT1 (ENSG00000137090), DMRTC2 (ENSG00000142025), DMRTA2 (ENSG00000142700), DMRTB1 (ENSG00000143006), DMRTA1 (ENSG00000176399), DMRTC1B (ENSG00000184911), DMRTC1 (ENSG00000269502)
Protein
Protein identifiers
Doublesex- and mab-3-related transcription factor 2 — Q9Y5R5 (reviewed: Q9Y5R5)
Alternative names: Doublesex-like 2 protein
All UniProt accessions (3): Q9Y5R5, A0A0A0MR18, Q05C20
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional activator that directly regulates early activation of the myogenic determination gene MYF5 by binding in a sequence-specific manner to the early epaxial enhancer element of it. Involved in somitogenesis during embryogenesis and somite development and differentiation into sclerotome and dermomyotome. Required for the initiation and/or maintenance of proper organization of the sclerotome, dermomyotome and myotome.
Subunit / interactions. Homodimer.
Subcellular location. Nucleus.
Tissue specificity. Expressed in testis, kidney and skeletal muscle.
Miscellaneous. Produced by DMRT2 bicistronic transcripts (AF284223/AF284224) from non-overlapping reading frame, according to PubMed:10729224. Produced by DMRT2 bicistronic transcripts (AF284223/AF284224) from non-overlapping reading frame, according to PubMed:10729224.
Similarity. Belongs to the DMRT family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y5R5-1 | 1 | yes |
| Q9Y5R5-2 | 2 | |
| Q9Y5R5-3 | 3 |
RefSeq proteins (9): NP_001124337, NP_001357460, NP_001357461, NP_001357462, NP_001374486, NP_001374487, NP_001374488, NP_006548, NP_870987* (*=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 (15 total): compositionally biased region 4, splice variant 3, sequence variant 2, sequence conflict 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-Q9Y5R5-F1 | 54.37 | 0.10 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 123 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, AAGCAAT_MIR137, GOBP_EPITHELIUM_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT, TGACCTY_ERR1_Q2, TAKADA_GASTRIC_CANCER_COPY_NUMBER_DN, ATGCAGT_MIR217, ATGTTAA_MIR302C, GOBP_ANTERIOR_POSTERIOR_PATTERN_SPECIFICATION, GOBP_SOMITOGENESIS, TCCCCAC_MIR491
GO Biological Process (8): regulation of transcription by RNA polymerase II (GO:0006357), sex differentiation (GO:0007548), regulation of somitogenesis (GO:0014807), embryonic skeletal system development (GO:0048706), myotome development (GO:0061055), positive regulation of myotome development (GO:2000287), regulation of DNA-templated transcription (GO:0006355), positive regulation of transcription by RNA polymerase II (GO:0045944)
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), identical protein binding (GO:0042802), metal ion binding (GO:0046872), RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA binding (GO:0003677), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565)
GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| transcription by RNA polymerase II | 2 |
| regulation of transcription by RNA polymerase II | 2 |
| cellular anatomical structure | 2 |
| regulation of DNA-templated transcription | 1 |
| developmental process involved in reproduction | 1 |
| somitogenesis | 1 |
| regulation of anatomical structure morphogenesis | 1 |
| regulation of multicellular organismal process | 1 |
| skeletal system development | 1 |
| chordate embryonic development | 1 |
| anatomical structure development | 1 |
| somite development | 1 |
| positive regulation of developmental process | 1 |
| myotome development | 1 |
| regulation of myotome development | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| positive regulation of DNA-templated transcription | 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 |
| protein binding | 1 |
| cation binding | 1 |
| transcription cis-regulatory region binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| DNA binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
960 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DMRT2 | SRY | Q05066 | 803 |
| DMRT2 | DMRT3 | Q9NQL9 | 534 |
| DMRT2 | ZFY | P08048 | 505 |
| DMRT2 | KANK1 | Q14678 | 494 |
| DMRT2 | FOXL2 | P58012 | 483 |
| DMRT2 | HNRNPUL2 | Q1KMD3 | 477 |
| DMRT2 | ASB18 | Q6ZVZ8 | 452 |
| DMRT2 | NR0B1 | P51843 | 450 |
| DMRT2 | FOXL3 | A0A1W2PRP0 | 432 |
| DMRT2 | AMH | P03971 | 415 |
| DMRT2 | RPL7 | P18124 | 413 |
| DMRT2 | ACTB | P02570 | 409 |
| DMRT2 | WNT4 | P56705 | 408 |
| DMRT2 | MYF5 | P13349 | 405 |
| DMRT2 | PDLIM7 | Q9NR12 | 395 |
| DMRT2 | SOX3 | P35714 | 395 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TLE5 | DMRT2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DMRT2 | MAGED1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DMRT2 | TLE5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| DMRT2 | MAGED1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (3): DMRT2 (Reconstituted Complex), DMRT2 (Two-hybrid), MAGED1 (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
256 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 1 |
| Uncertain significance | 185 |
| Likely benign | 53 |
| Benign | 8 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 253670 | GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3 | Pathogenic |
| 638656 | NM_181872.6(DMRT2):c.1A>T (p.Met1Leu) | Pathogenic |
| 3900977 | NM_181872.6(DMRT2):c.129del (p.Asp43fs) | Likely pathogenic |
SpliceAI
803 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:1053717:TACAG:T | acceptor_loss | 1.0000 |
| 9:1053719:CAGG:C | acceptor_loss | 1.0000 |
| 9:1053720:A:AG | acceptor_gain | 1.0000 |
| 9:1053721:G:GG | acceptor_gain | 1.0000 |
| 9:1053721:G:GT | acceptor_loss | 1.0000 |
| 9:1052137:AGG:A | donor_loss | 0.9900 |
| 9:1052138:GGT:G | donor_loss | 0.9900 |
| 9:1052140:T:G | donor_loss | 0.9900 |
| 9:1053720:AG:A | acceptor_gain | 0.9900 |
| 9:1053721:GG:G | acceptor_gain | 0.9900 |
| 9:1053823:AGGT:A | donor_loss | 0.9900 |
| 9:1053824:GGTAA:G | donor_loss | 0.9900 |
| 9:1053825:G:A | donor_loss | 0.9900 |
| 9:1053826:T:G | donor_loss | 0.9900 |
| 9:1055217:A:AG | acceptor_gain | 0.9900 |
| 9:1055217:AAAT:A | acceptor_gain | 0.9900 |
| 9:1055218:A:G | acceptor_gain | 0.9900 |
| 9:1056045:G:GT | donor_gain | 0.9900 |
| 9:1056046:A:T | donor_gain | 0.9900 |
| 9:1050479:CAAG:C | donor_loss | 0.9800 |
| 9:1050480:AAGGT:A | donor_loss | 0.9800 |
| 9:1050481:AG:A | donor_loss | 0.9800 |
| 9:1050482:GG:G | donor_loss | 0.9800 |
| 9:1050483:GTG:G | donor_loss | 0.9800 |
| 9:1050484:T:G | donor_loss | 0.9800 |
| 9:1050543:GC:G | donor_gain | 0.9800 |
| 9:1051569:GA:G | acceptor_gain | 0.9800 |
| 9:1052136:GAG:G | donor_gain | 0.9800 |
| 9:1052139:G:GG | donor_gain | 0.9800 |
| 9:1053782:C:T | donor_gain | 0.9800 |
AlphaMissense
3654 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:1051980:T:A | C123S | 1.000 |
| 9:1051980:T:C | C123R | 1.000 |
| 9:1051981:G:C | C123S | 1.000 |
| 9:1051982:C:G | C123W | 1.000 |
| 9:1051986:C:A | R125S | 1.000 |
| 9:1051989:T:A | C126S | 1.000 |
| 9:1051989:T:C | C126R | 1.000 |
| 9:1051990:G:A | C126Y | 1.000 |
| 9:1051990:G:C | C126S | 1.000 |
| 9:1051991:C:G | C126W | 1.000 |
| 9:1051992:C:A | R127S | 1.000 |
| 9:1051995:A:G | N128D | 1.000 |
| 9:1051997:C:A | N128K | 1.000 |
| 9:1051997:C:G | N128K | 1.000 |
| 9:1051998:C:A | H129N | 1.000 |
| 9:1051998:C:G | H129D | 1.000 |
| 9:1052000:C:A | H129Q | 1.000 |
| 9:1052000:C:G | H129Q | 1.000 |
| 9:1052002:G:A | G130D | 1.000 |
| 9:1052021:G:C | K136N | 1.000 |
| 9:1052021:G:T | K136N | 1.000 |
| 9:1052025:C:G | H138D | 1.000 |
| 9:1052027:C:A | H138Q | 1.000 |
| 9:1052027:C:G | H138Q | 1.000 |
| 9:1052028:A:G | K139E | 1.000 |
| 9:1052029:A:T | K139M | 1.000 |
| 9:1052030:G:C | K139N | 1.000 |
| 9:1052030:G:T | K139N | 1.000 |
| 9:1052037:T:A | C142S | 1.000 |
| 9:1052037:T:C | C142R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000029198 (9:1052153 G>A,C,T), RS1000232486 (9:1054648 A>G), RS1000277493 (9:1054487 T>C), RS1000395121 (9:1050531 G>C), RS1000556180 (9:1055878 T>A), RS1000628015 (9:1054674 C>A,T), RS1000703162 (9:1050362 C>A,G), RS1001018184 (9:1051642 C>A,T), RS1001623190 (9:1050073 C>G), RS1001671357 (9:1055276 C>G), RS1002011041 (9:1054087 A>T), RS1002054081 (9:1056155 T>C,G), RS1002253152 (9:1051934 C>A,G,T), RS1002824345 (9:1048429 C>A,G,T), RS1002858603 (9:1049447 C>A)
Disease associations
OMIM: gene MIM:604935 | disease phenotypes: MIM:600171, MIM:621523
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| spondylocostal dysostosis | Limited | Autosomal recessive |
Mondo (3): gonadal agenesis (MONDO:0010838), spondylocostal dysostosis 7, autosomal recessive (MONDO:0981023), spondylocostal dysostosis (MONDO:0000359)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
20 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000278_8 | Hyperactive-impulsive symptoms | 5.000000e-06 |
| GCST001144_7 | Dupuytren’s disease | 6.000000e-09 |
| GCST003059_15 | Parkinson’s disease | 1.000000e-06 |
| GCST003542_195 | Night sleep phenotypes | 4.000000e-06 |
| GCST003542_8 | Night sleep phenotypes | 3.000000e-08 |
| GCST003996_2 | Monobrow | 4.000000e-62 |
| GCST003999_7 | Nose size | 1.000000e-09 |
| GCST004858_13 | Dupuytren’s disease | 4.000000e-26 |
| GCST006152_2 | Language impairment in frontotemporal lobe dementia | 6.000000e-06 |
| GCST006481_17 | Lung function (FEV1) | 5.000000e-08 |
| GCST006481_41 | Lung function (FEV1) | 5.000000e-06 |
| GCST006483_64 | Lung function (FVC) | 3.000000e-08 |
| GCST006483_65 | Lung function (FVC) | 1.000000e-07 |
| GCST006483_68 | Lung function (FVC) | 7.000000e-09 |
| GCST010118_170 | Type 2 diabetes | 2.000000e-08 |
| GCST010173_135 | Triglyceride levels | 9.000000e-09 |
| GCST010242_185 | HDL cholesterol levels | 5.000000e-08 |
| GCST010244_299 | Triglyceride levels | 3.000000e-12 |
| GCST90002385_375 | High light scatter reticulocyte count | 3.000000e-10 |
| GCST90002386_420 | High light scatter reticulocyte percentage of red cells | 2.000000e-09 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004229 | Dupuytren Contracture |
| EFO:0007906 | synophrys measurement |
| EFO:0004314 | forced expiratory volume |
| EFO:0004312 | vital capacity |
| EFO:0004530 | triglyceride measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0007986 | reticulocyte count |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C537565 | Jarcho-Levin syndrome (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
17 total (human), top 17 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression | 3 |
| tungsten carbide | affects binding, decreases expression | 1 |
| terbufos | increases methylation | 1 |
| arsenite | increases methylation | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment, decreases expression | 1 |
| 15-acetyldeoxynivalenol | increases expression | 1 |
| monomethylarsonous acid | decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Cobalt | affects binding, decreases expression | 1 |
| Fonofos | increases methylation | 1 |
| Lipopolysaccharides | increases expression, affects cotreatment, decreases expression, affects response to substance | 1 |
| Parathion | increases methylation | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Antirheumatic Agents | 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_A0Z8 | SEES3-1V human DMRT2, clone1 | Embryonic stem cell | Male |
| CVCL_A0Z9 | SEES3-1V human DMRT2, clone2 | Embryonic stem cell | Male |
| CVCL_A1A0 | SEES3-1V human DMRT2, clone3 | Embryonic stem cell | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: spondylocostal dysostosis
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): gonadal agenesis, specific language impairment 5, spondylocostal dysostosis, spondylocostal dysostosis 7, autosomal recessive