TM4SF20 - transmembrane 4 L six family member 20 Gene

Homo sapiens

Also known as SLI5; PRO994; TCCE518

Gene ID: 79853 | Gene type: protein coding

About TM4SF20

Cytogenetic location: 2q36.3 Genomic coordinates (GRCh38): 2:227,362,038-227,381,647 (from NCBI)

This gene has 2 transcripts (splice variants), 128 orthologues, 5 paralogues and is associated with 2 phenotypes. Biased expression in duodenum (RPKM 117.7) and small intestine (RPKM 65.0).

Summary

The protein encoded by this gene is a member of the four-transmembrane L6 superfamily. Members of this family function in various cellular processes including cell proliferation, motility, and adhesion via their interactions with integrins. In human brain tissue, this gene is expressed at high levels in the parietal lobe, occipital lobe, hippocampus, pons, white matter, corpus callosum, and cerebellum. Knockout of the homologous gene in mouse results in a neurobehavioral phenotype with suggested enhanced motor coordination. A deletion mutation in the human gene is associated with specific language impairment-5. [provided by RefSeq, Jul 2016]

TM4SF20 Products(1)

mRNA	Protein	Name
NM_024795.4	NP_079071.2	transmembrane 4 L6 family member 20

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of proteolysis	IDA IDA: Inferred from direct assay	25310401	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	27499293	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

TM4SF20 Protein Structure

L6_membrane

0
100
200
229 a.a.

Protein Preferred Names

Protein Names

transmembrane 4 L6 family member 20

TM4SF20 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	TM4SF20	Q53R12	NINJ2	Homo sapiens	Q9NZG7	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Specific Language Impairment 5

SLI5	Language Impairment, Specific, Type 5

Specific Language Impairment

Language Impairment, Specific

Cholestasis, Intrahepatic, Of Pregnancy, 1

ICP1	Intrahepatic Cholestasis Of Pregnancy 1
Cholestasis, Pregnancy-Related, 1	Pregnancy Related Cholestasis 1
Cholestasis Of Pregnancy, Intrahepatic 1	Obstetric Cholestasis
Pregnancy-Related Cholestasis	Recurrent Intrahepatic Cholestasis Of Pregnancy
Cholestasis, Intrahepatic, Of Pregnancy, Type 1	Cholestasis Of Pregnancy

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

Williams-Beuren Region Duplication Syndrome

7q11.23 Duplication Syndrome	7q11.23 Microduplication Syndrome
Chromosome 7q11.23 Duplication Syndrome	Wbs Duplication Syndrome
Somerville-Van Der Aa Syndrome	Dup(7)(Q11.23)
Trisomy 7q11.23	William-Beuren Region Duplication Syndrome
Chromosome 7q11.23 Duplication

Autism

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

Cri-Du-Chat Syndrome

5p Deletion Syndrome	5p Partial Monosomy Syndrome
Monosomy 5p	Cat Cry Syndrome
Chromosome 5p Deletion Syndrome	Cri Du Chat Syndrome
5p- Syndrome	5p Minus Syndrome
Chromosome 5p- Syndrome	Chromosome 5 Short Arm Deletion Syndrome
Chromosome 5p Deletion	Deletion 5p
Cri Du Chat	5p Partial Deletion Syndrome
Partial Deletion Of Short Arm Of Chromosome 5 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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14608	TM4SF20 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	TM4SF20	VGNC	VGNC:107678
Rattus norvegicus	TM4SF20	RGD	RGD:1588633
Macaca mulatta	TM4SF20	VGNC	VGNC:79590
Canis familiaris	TM4SF20	VGNC	VGNC:47408
Mus musculus	TM4SF20	MGD	MGI:1913511
Bos taurus	TM4SF20	VGNC	VGNC:35905

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