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

DLL3 - delta like canonical Notch ligand 3 Gene

中文名称:三角洲样典型 Notch 配体 3

种属: Homo sapiens

同用名: SCDO1

基因 ID: 10683 | 基因类型: protein coding

关于 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).

功能概要

该基因编码 delta 蛋白配体家族的一个成员。该家族作为 Notch 配体发挥作用,其特征在于 DSL 结构域、EGF 重复序列和跨膜结构域。该基因的突变导致常染色体隐性遗传性脊椎骨肋骨发育不良 1。已为该基因鉴定了编码不同亚型的两种转录物变体。[RefSeq 提供,2008 年 7 月]

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 基因产物(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
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in skeletal system development IMP
IMP: 通过突变表型推断
10742114 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

DLL3 蛋白结构

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
  • 100
  • 200
  • 300
  • 400
  • 500
  • 618 a.a.
蛋白主名 其他名称

delta-like protein 3

delta-like 3

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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