GediPNet logo

DLX3 (distal-less homeobox 3)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1747
Gene nameGene Name - the full gene name approved by the HGNC.
Distal-less homeobox 3
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
DLX3
SynonymsGene synonyms aliases
AI4, TDO
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.33
SummarySummary of gene provided in NCBI Entrez Gene.
Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs387906405 CCCC>- Pathogenic Frameshift variant, coding sequence variant
rs387906406 AG>- Pathogenic Frameshift variant, coding sequence variant
rs1057518764 C>-,CC Likely-pathogenic, pathogenic Frameshift variant, coding sequence variant
rs1555617226 C>A Pathogenic Coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT624141 hsa-miR-33a-3p HITS-CLIP 23824327
MIRT624139 hsa-miR-4307 HITS-CLIP 23824327
MIRT624137 hsa-miR-1305 HITS-CLIP 23824327
MIRT624136 hsa-miR-335-3p HITS-CLIP 23824327
MIRT624141 hsa-miR-33a-3p HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID O60479
Protein name Homeobox protein DLX-3
Protein function Transcriptional activator (By similarity). Activates transcription of GNRHR, via binding to the downstream activin regulatory element (DARE) in the gene promoter (By similarity).
PDB 4XRS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12413 DLL_N
27 → 108
Homeobox protein distal-less-like N terminal
Family
PF00046 Homeodomain
130 → 186
Homeodomain
 Domain
Sequence 
MSGSFDRKLSSILTDISSSLSCHAGSKDSPTLPESSVTDLGYYSAPQHDYYSGQPYGQTV
NPYTYHHQFNLNGLAGTGAYSPKSEYTYGASYRQYGAYREQPLPAQDPVSVKEEPEAEVR
MVNGKPKKVRKPRTIYSSYQLAALQRRFQKAQYLALPERAELAAQLGLTQTQVKIWFQNR
RSKFKKLYKNGEVPLEHSPNNSDSMACNSPPSPALWDTSSHSTPAPARSQLPPPLPYSAS
PSYLDDPTNSWYHAQNLSGPHLQQQPPQPATLHHASPGPPPNPGAVY
Sequence length 287
Interactions View interactions
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Amelogenesis imperfecta Amelogenesis Imperfecta, Amelogenesis Imperfecta, Type IV rs267607178, rs143816093, rs606231351, rs137854435, rs137854440, rs137854441, rs137854444, rs587776587, rs121908109, rs587776588, rs140213840, rs104894704, rs387906487, rs387906488, rs387906489, rs104894733, rs104894734, rs104894736, rs387906490, rs387906491, rs104894737, rs104894738, rs144411158, rs587776911, rs587776912, rs587776913, rs587776914, rs387907215, rs866941536, rs1560562738, rs1560562630, rs146645381, rs1560558455, rs587777515, rs587777516, rs587777530, rs139620139, rs587777531, rs587777535, rs587777536, rs587777537, rs606231462, rs1553275034, rs869320671, rs786201004, rs140015315, rs730882118, rs730880297, rs730880298, rs786204825, rs786204826, rs1555409827, rs1057517671, rs1057517672, rs556734208, rs146238585, rs202073531, rs1057519277, rs767907487, rs779823931, rs1060499539, rs1085307111, rs546603773, rs1553275070, rs1553275195, rs752102959, rs1554623490, rs1553888384, rs770804941, rs1553887511, rs557128345, rs1568724130, rs199527325, rs1603038146, rs773117913, rs1560973571, rs1560782372, rs1560980659, rs1560973467, rs772929908, rs762816338, rs1565222166, rs1595312054, rs1866200282, rs2086254952 23949819, 15666299, 26762616
Amelogenesis imperfecta with taurodontism Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism rs387906406, rs1057518764 15666299
Trichodentoosseous syndrome Tricho-dento-osseous syndrome (disorder), Tricho-dento-osseous syndrome rs387906405, rs387906406 22969805, 18492670, 26762616, 23949819
Unknown
Disease name Disease term dbSNP ID References
Clinodactyly Clinodactyly of fingers
Dolichocephaly Long narrow head
Frontal bossing Frontal bossing
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412