TM4SF20 - transmembrane 4 L six family member 20 Gene

中文名称：跨膜 4 L 六个家族成员 20

种属: Homo sapiens

同用名: SLI5; PRO994; TCCE518

基因 ID: 79853 | 基因类型: protein coding

关于 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).

功能概要

该基因编码的蛋白质是四次跨膜 L6 超家族的成员。该家族的成员通过与整合素的相互作用在各种细胞过程中发挥作用，包括细胞增殖、运动和粘附。在人脑组织中，该基因在顶叶、枕叶、海马、脑桥、白质、胼胝体和小脑中高水平表达。在小鼠中敲除同源基因会导致神经行为表型，表明运动协调能力增强。人类基因中的缺失突变与特定语言障碍相关 5。[RefSeq 提供，2016 年 7 月]

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 基因产物(1)

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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in negative regulation of proteolysis	IDA IDA: 通过直接分析推断	25310401	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in endoplasmic reticulum membrane	IDA IDA: 通过直接分析推断	27499293	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

TM4SF20 蛋白结构

L6_membrane

0
100
200
229 a.a.

蛋白主名

其他名称

transmembrane 4 L6 family member 20

TM4SF20 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	TM4SF20	Q53R12	NINJ2	Homo sapiens	Q9NZG7	Validated Y2H	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS14608	TM4SF20 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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