SPEN - spen family transcriptional repressor Gene

Homo sapiens

Also known as MINT; SHARP; RATARS; RBM15C; HIAA0929

Gene ID: 23013 | Gene type: protein coding

About SPEN

Cytogenetic location: 1p36.21-p36.13 Genomic coordinates (GRCh38): 1:15,847,707-15,940,456 (from NCBI)

This gene has 7 transcripts (splice variants), 290 orthologues, 7 paralogues and is associated with 131 phenotypes. Ubiquitous expression in ovary (RPKM 13.5), bone marrow (RPKM 9.9) and 25 other tissues.

Summary

This gene encodes a hormone inducible transcriptional repressor. Repression of transcription by this gene product can occur through interactions with other repressors, by the recruitment of proteins involved in histone deacetylation, or through sequestration of transcriptional activators. The product of this gene contains a carboxy-terminal domain that permits binding to other corepressor proteins. This domain also permits interaction with members of the NuRD complex, a nucleosome remodeling protein complex that contains deacetylase activity. In addition, this repressor contains several RNA recognition motifs that confer binding to a steroid receptor RNA coactivator; this binding can modulate the activity of both liganded and nonliganded steroid receptors. [provided by RefSeq, Jul 2008]

SPEN Products(1)

mRNA	Protein	Name
NM_015001.3	NP_055816.2	msx2-interacting protein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	16287852	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16129689	GOA
enables transcription corepressor activity	IDA IDA: Inferred from direct assay	16287852	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	16129689	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	16287852	GOA
involved in positive regulation of neurogenesis	IMP IMP: Inferred from mutant phenotype	16287852	GOA
involved in random inactivation of X chromosome	IDA IDA: Inferred from direct assay	25843628	GOA
involved in regulatory ncRNA-mediated heterochromatin formation	IMP IMP: Inferred from mutant phenotype	25843628	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of transcription repressor complex	IDA IDA: Inferred from direct assay	16287852	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

SPEN Protein Structure

RRM_1

RRM_5

SPOC

0
600
1200
1800
2400
3000
3664 a.a.

Protein Preferred Names

Protein Names

msx2-interacting protein

Msx2 interacting nuclear target (MINT) homolog

Related Diseases

Diseases

Alias

Radio-Tartaglia Syndrome

RATARS

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome	Deletion 1p36
Monosomy 1p36	Subtelomeric 1p36 Deletion
Monosomy 1p36 Syndrome	Distal Monosomy 1p36
Del(1)(P36)	Deletion 1pter
Monosomy 1pter

Encephalopathy

Brain Diseases	Encephalopathies
Toxic Encephalopathy	Toxic Brain Fever
Toxic Brain Inflammation	Toxic Brain Stem Inflammation
Toxic Cerebral Fever	Toxic Cerebrospinal Fever
Toxic Cerebrospinal Inflammation	Encephalopathy Nec
Encephalopathy Nos	Encephalopathy Disease
Encephalopathy Syndrome

Mullegama-Klein-Martinez Syndrome

MKMS	Nedxcf
Neurodevelopmental Disorder, X-Linked, With Craniofacial Abnormalities	X-Linked Neurodevelopmental Disorder With Craniofacial Abnormalities

Paranasal Sinus Lymphoma

Lymphoma Of Accessory Sinus

Lymphoma Of Paranasal Sinus

Wolfram Syndrome 2

WFS2

Ezb Diffuse Large B-Cell Lymphoma

Ezb Dlbcl

Doid:0081065

3-Methylcrotonyl-Coa Carboxylase 2 Deficiency

MCC2D	Mcc2 Deficiency
3-Methylcrotonyl Coa Carboxylase 2 Deficiency	3-Methylcrotonylglycinuria Ii
Methylcrotonylglycinuria, Type Ii	3-Methylcrotonoyl-Coa Carboxylase 2 Deficiency
3-Methylcrotonylglycinuria Type Ii	Mcgii
Methylcrotonylglycinuria Type Ii

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-152038	SPEN-IN-1	Inhibitor	98.47%	Unkown
HY-RS13660	SPEN Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SPEN	VGNC	VGNC:35204
Felis catus	SPEN	VGNC	VGNC:82337
Mus musculus	SPEN	MGD	MGI:1891706
Macaca mulatta	SPEN	VGNC	VGNC:77940
Rattus norvegicus	SPEN	RGD	RGD:1589867
Others	SPEN	NCBI

Name
Email *

	Sorry, but the email address you supplied was invalid.