SON - SON DNA and RNA binding protein Gene

Also Known as SON3; BASS1; DBP-5; NREBP; TOKIMS; C21orf50

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6651

About SON

Cytogenetic location: 21q22.11 Genomic coordinates (GRCh38): 21:33,543,038-33,577,481 (from NCBI)

This gene has 22 transcripts (splice variants), 216 orthologues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 43.7), lymph node (RPKM 33.4) and 25 other tissues.

Summary

This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also recognizes a specific DNA sequence found in the human hepatitis B virus (HBV) and represses HBV core promoter activity. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

SON Products (6)

mRNA Protein Name
NM_001291411.2 NP_001278340.2 protein SON isoform E
NM_001291412.3 NP_001278341.1 protein SON isoform H
NM_001412132.1 NP_001399061.1 protein SON isoform I
NM_001412133.1 NP_001399062.1 protein SON isoform J
NM_032195.3 NP_115571.3 protein SON isoform B
NM_138927.4 NP_620305.3 protein SON isoform F

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables RNA binding IDA
IDA: Inferred from direct assay
21504830 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21504830 GOA
Biological Process GO Annotation Evidence References Source
involved in mRNA processing IDA
IDA: Inferred from direct assay
21504830 GOA
acts upstream of microtubule cytoskeleton organization IMP
IMP: Inferred from mutant phenotype
21504830 GOA
acts upstream of mitotic cytokinesis IMP
IMP: Inferred from mutant phenotype
21504830 GOA
involved in negative regulation of apoptotic process IDA
IDA: Inferred from direct assay
10509013 GOA
involved in regulation of RNA splicing IMP
IMP: Inferred from mutant phenotype
27545680 GOA
acts upstream of regulation of cell cycle IMP
IMP: Inferred from mutant phenotype
21504830 GOA
involved in regulation of mRNA splicing, via spliceosome IDA
IDA: Inferred from direct assay
21504830 GOA
Cellular Component GO Annotation Evidence References Source
located in nuclear speck IDA
IDA: Inferred from direct assay
21504830 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

SON Protein Structure

G-patch

G-patch: G-patch domain (2305 - 2348)

DND1_DSRM

DND1_DSRM: double strand RNA binding domain from DEAD END PROTEIN 1 (2370 - 2415)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2426 a.a.
Protein Preferred Names Protein Names

protein SON

  • Bax antagonist selected in Saccharomyces 1

Related Diseases

Diseases Alias
Zttk Syndrome

  • Zhu-Tokita-Takenouchi-Kim Syndrome

  • ZTTKS

  • Zttk Multiple Congenital Anomalies-Mental Retardation Syndrome

  • Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Spastic Paraplegia 17, Autosomal Dominant

  • Silver Syndrome

  • SPG17

  • Silver Spastic Paraplegia Syndrome

  • Spastic Paraplegia With Amyotrophy Of Hands And Feet

  • Hereditary Spastic Paraplegia 17

  • Autosomal Dominant Spastic Paraplegia Type 17

  • Spastic Paraplegia 17

  • Spastic Paraplegia-Amyotrophy Of Hands And Feet

  • Autosomal Dominant Spastic Paraplegia 17

  • Dhmn5b

  • Distal Hereditary Motor Neuropathy Type 5b

  • Paraplegia, Spastic, Autosomal Dominant, Type 17

  • Russell-Silver Syndrome

  • Neuronopathy, Distal Hereditary Motor, Type Vb
Hepatitis B

  • Chronic Hepatitis B

  • Hepatitis B Infection

  • Serum Hepatitis

  • HBV

  • Hepatitis B Chronic

  • Hbv, Susceptibility To

  • Hepatitis B, Chronic

  • Chronic Hepatitis B Without Delta Agent

  • Chronic Hbv - [Hepatitis B Virus] Infection

  • Hepatitis B Nos

  • Chronic Type B Viral Hepatitis

  • Hep B Nos
Hepatitis

  • Chronic Hepatitis

  • Chronic Persistent Hepatitis

  • Acute Hepatitis

  • Hepatitis, Chronic

  • Acute And Subacute Liver Necrosis

  • Acute/Subac. Necrosis Of Liver

  • Animal Hepatitis

  • Hepatitis Chronic

  • Hepatitis A

  • Hepatitis, Animal

  • Hepatitis Due To Toxoplasmosis

  • Hepatitis In Toxoplasmosis

  • Toxoplasmal Hepatitis

  • Chronic Hepatitis, Unspecified

  • Chronic Active Hepatitis Nec

  • Other Specified Chronic Hepatitis

  • Chronic Persistent Hepatitis Nec

  • Chronic Lobular Hepatitis Nec
Dysbaric Osteonecrosis

  • Caisson Disease Of Bone

  • Don
Crouzon Syndrome With Acanthosis Nigricans

  • Crouzon Syndrome-Acanthosis Nigricans Syndrome

  • CAN

  • Crouzonodermoskeletal Syndrome

  • Crouzon-Dermoskeletal Syndrome

  • Crouzon, With Acanthosis Nigricans Syndrome
Lethal Congenital Contracture Syndrome 2

  • LCCS2

  • Lethal Congenital Contractural Syndrome 2

  • Multiple Contracture Syndrome, Israeli-Bedouin Type

  • Multiple Contracture Syndrome, Israeli Bedouin Type A

  • Multiple Contracture Syndrome, Israeli Bedouin Type

  • Lethal Congenital Contracture Syndrome Type 2

  • Israeli Bedouin Multiple Contracture Syndrome Type A

  • Contracture Syndrome, Lethal, Congenital, Type 2
Lethal Congenital Contracture Syndrome 1

  • LCCS1

  • Multiple Contracture Syndrome, Finnish Type

  • Lccs

  • Lethal Autosomal Recessive Syndrome Of Multiple Congenital Contractures

  • Lethal Congenital Contracture Syndrome Type 1

  • Herva Disease

  • Multiple Contracture Syndrome Finnish Type

  • Contracture Syndrome, Lethal, Congenital, Type 1
Deafness, Autosomal Recessive 97

  • DFNB97

  • Autosomal Recessive Nonsyndromic Deafness 97

  • Autosomal Recessive Deafness 97

  • Deafness, Autosomal Recessive, 97

  • Deafness, Autosomal Recessive, Type 97
Anterior Horn Cell Disease
Lethal Congenital Contracture Syndrome

  • Lccs

  • Lethal Congenital Contracture Syndrome 1
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (20)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-125817 BI-3406 Inhibitor 99.95% Unkown
HY-114398 BAY-293 Inhibitor 98.97% Unkown
HY-18674 K-Ras-IN-1 Inhibitor 98.00% Unkown
HY-132966 ASP2453 Inhibitor 98.28% Unkown
HY-124755 RAS activator compound 1 Activator 98.90% Unkown
HY-144965 SOS1-IN-12 Inhibitor / Unkown
HY-144967 SOS1-IN-13 Inhibitor / Unkown
HY-145046 SOS1-IN-3 Inhibitor / Unkown
HY-159888 SON38 Inhibitor / Unkown
HY-161654 PROTAC SOS1 degrader-10 / Unkown
HY-168480 SOS2 ligand 1 Ligand / Unkown
HY-168514 SOS1/EGFR-IN-2 Inhibitor / Unkown
HY-172221 SOS1-IN-18 Inhibitor / Unkown
HY-175326 SOS1-IN-21 Inhibitor / Unkown
HY-175560 SOS1-IN-22 Inhibitor / Unkown
HY-176170 SOS1-IN-19 Inhibitor / Unkown
HY-RS13566 SON Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-161655 SOS1 Ligand intermediate-5 Inhibitor / Unkown
HY-RS18222 Son Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24699 Son Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus SON VGNC VGNC:35128
Mus musculus SON MGD MGI:98353
Macaca mulatta SON VGNC VGNC:77689
Felis catus SON VGNC VGNC:65568
Rattus norvegicus SON RGD RGD:1309013
Others SON NCBI