1. Gene
  2. DLL3 - delta like canonical Notch ligand 3 Gene

DLL3 - delta like canonical Notch ligand 3 Gene

Homo sapiens

Also known as SCDO1

Gene ID: 10683 | Gene type: protein coding

About DLL3

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:39,498,947-39,508,469 (from NCBI)

This gene has 5 transcripts (splice variants), 297 orthologues, 8 paralogues and is associated with 3 phenotypes. Restricted expression toward brain (RPKM 16.1).

Summary

This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. Mutations in this gene cause autosomal recessive spondylocostal dysostosis 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

DLL3 Products(2)

mRNA Protein Name
NM_016941.4 NP_058637.1 delta-like protein 3 isoform 1 precursor
NM_203486.3 NP_982353.1 delta-like protein 3 isoform 2 precursor
Gene Ontology
  • Biological Process
Biological Process GO Annotation Evidence Reference Source
involved in skeletal system development IMP
IMP: Inferred from mutant phenotype
10742114 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DLL3 Protein Structure

MNNL

MNNL: N terminus of Notch ligand (26 - 88)

hEGF

hEGF: Human growth factor-like EGF (236 - 248)

EGF

EGF: EGF-like domain (278 - 307)

EGF

EGF: EGF-like domain (316 - 349)

EGF

EGF: EGF-like domain (357 - 387)

hEGF

hEGF: Human growth factor-like EGF (452 - 464)

  • 0
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  • 500
  • 618 a.a.
Protein Preferred Names Protein Names

delta-like protein 3

delta-like 3

Recombinant DLL3 Proteins

Related Diseases

Diseases Alias
Spondylocostal Dysostosis 1, Autosomal Recessive

Jarcho-Levin Syndrome

SCDO1

Vertebral Anomalies

Spondylothoracic Dysplasia

Costovertebral Dysplasia

Spondylothoracic Dysostosis

Spondylocostal Dysostosis 1

Autosomal Recessive Spondylocostal Dysostosis 1

Spondylocostal Dysostosis, Autosomal Recessive, 1

Doid:0112365

Dysostosis, Spondylocostal, Autosomal Recessive, Type 1

Spondylocostal Dysostosis, Autosomal Recessive

Autosomal Recessive Spondylocostal Dysostosis

Jarcho-Levin Syndrome

Costovertebral Dysplasia

Spondylocostal Dysplasia

Spondylocostal Dysostosis, Autosomal Recessive 2

Leukodystrophy And Acquired Microcephaly With Or Without Dystonia

LDAMD

Leukodystrophy And Acquired Microcephaly With Or Without Dystonia

Dysostosis

Dysostoses

Spondylocostal Dysostosis

Jarcho-Levin Syndrome

Costovertebral Dysplasia

Spondylothoracic Dysostosis

Spondylothoracic Dysplasia

Scdo

Dysostosis, Spondylocostal

Cascade Stomach

Hourglass Stricture Or Stenosis Of Stomach

Hourglass Contraction Of Stomach

Hourglass Stenosis Of Stomach

Hourglass Stricture Of Stomach

Pulmonary Neuroendocrine Tumor

Neuroendocrine Neoplasm Of Lung

Scoliosis
Pulmonary Large Cell Neuroendocrine Carcinoma

Large Cell Lung Neuroendocrine Carcinoma

Gallbladder Small Cell Carcinoma

Oat Cell Carcinoma Of The Gallbladder

Gallbladder Small Cell Neuroendocrine Carcinoma

Spondylocostal Dysostosis 4, Autosomal Recessive

SCDO4

Spondylocostal Dysostosis 4

Autosomal Recessive Spondylocostal Dysostosis 4

Doid:0112364

Dysostosis, Spondylocostal, Autosomal Recessive, Type 4

Hajdu-Cheney Syndrome

Acroosteolysis With Osteoporosis And Changes In Skull And Mandible

Cheney Syndrome

Arthrodentoosteodysplasia

HJCYS

Serpentine Fibula-Polycystic Kidney Syndrome

Sfpks

Acroosteolysis Dominant Type

Serpentine Fibula-Polycystic Kidneys Syndrome

Arthro-Dento-Osteo Dysplasia

Cranioskeletal Dysplasia With Acro-Osteolysis

Familial Osteodysplasia

Hereditary Osteodysplasia With Acro-Osteolysis

Hcs

Serpentine Fibula Syndrome

Acro-Osteolysis

Serpentine Fibula Polycystic Kidney Syndrome

Large Cell Neuroendocrine Carcinoma
Alagille Syndrome 1

Alagille Syndrome

Arteriohepatic Dysplasia

Alagille-Watson Syndrome

Cholestasis With Peripheral Pulmonary Stenosis

Hepatic Ductular Hypoplasia

Alagille Syndrome Due To A Jag1 Point Mutation

ALGS1

Algs

Aws

Syndromic Bile Duct Paucity

Cardiovertebral Syndrome

Hepatofacioneurocardiovertebral Syndrome

Paucity Of Interlobular Bile Ducts

Watson-Miller Syndrome

Alagille Syndrome Due To 20p12 Microdeletion

Ahd

Hepatic Ductular Hypoplasia, Syndromatic

Watson Alagille Syndrome

Alagille'S Syndrome

Alagille Syndrome Due To Del(20)(P12)

Alagille Syndrome Due To Monosomy 20p12

Alagille-Watson Syndrome Due To Monosomy 20p12

Arteriohepatic Dysplasia Due To Monosomy 20p12

Syndromic Bile Duct Paucity Due To Monosomy 20p12

Alagille-Watson Syndrome Due To A Jag1 Point Mutation

Arteriohepatic Dysplasia Due To A Jag1 Point Mutation

Syndromic Bile Duct Paucity Due To A Jag1 Point Mutation

Alagille Syndrome, Type 1

Large Intestine Adenoma

Adenoma Of Large Intestine

Lung Large Cell Carcinoma

Large Cell Carcinoma Of Lung

Large Cell Lung Carcinoma

Large Cell Lung Cancer

Adams-Oliver Syndrome

Adams Oliver Syndrome

Aos

Congenital Scalp Defects With Distal Limb Reduction Anomalies

Aplasia Cutis Congenita With Terminal Transverse Limb Defects

Congenital Scalp Defects With Distal Limb Anomalies

Limb, Scalp And Skull Defects

Limb Scalp And Skull Defects

Absence Defect Of Limbs, Scalp, And Skull

Klippel-Feil Syndrome

Cervical Vertebral Fusion

Congenital Dystrophia Brevicollis

Cervical Fusion Syndrome

Klippel-Feil Deformity

Autosomal Dominant Klippel-Feil Syndrome

Congenital Synostosis Of Cervical Vertebrae

Klippel-Feil And Turner Syndrome

Klippel-Feil Deformity, Deafness And Facial Asymmetry

Klippel Feil Syndrome

Cervical Vertebral Fusion Syndrome

Dystrophia Brevicollis Congenita

Fusion Of Cervical Vertebrae

Kfs

Klippel-Feil Sequence

Vertebral Cervical Fusion Syndrome

Klippel-Feil Syndrome, Autosomal Dominant

Klippel-Feil Malformation

Isolated Klippel-Feil Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus DLL3 VGNC VGNC:61520
Rattus norvegicus DLL3 RGD RGD:70953
Canis familiaris DLL3 VGNC VGNC:53689
Macaca mulatta DLL3 VGNC VGNC:71925
Bos taurus DLL3 VGNC VGNC:28095
Mus musculus DLL3 MGD MGI:1096877
Macaca fascicularis DLL3 NCBI NCBI:102115332
Others DLL3 NCBI