2. Gene
  3. SON - SON DNA and RNA binding protein Gene

SON - SON DNA and RNA binding protein Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 6651 | Gene type: protein coding

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

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
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  • 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
Bioactive Molecules (10)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-125817 BI-3406 Inhibitor 99.95% Unkown
HY-114398 BAY-293 Inhibitor 95.77% Unkown
HY-132966 ASP2453 Inhibitor 98.04% Unkown
HY-153606 SOS1 agonist-1 97.24% Unkown
HY-144965 SOS1-IN-12 Inhibitor / Unkown
HY-144967 SOS1-IN-13 Inhibitor / Unkown
HY-145046 SOS1-IN-3 Inhibitor / Unkown
HY-161654 PROTAC SOS1 degrader-10 Degrader / Unkown
HY-RS13566 SON Human Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-161655 SOS1 Ligand intermediate-5 / 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