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  2. TNRC6B - trinucleotide repeat containing adaptor 6B Gene

TNRC6B - trinucleotide repeat containing adaptor 6B Gene

中文名称:含三核苷酸重复序列的适配子 6B

种属: Homo sapiens

同用名: GDSBA

基因 ID: 23112 | 基因类型: protein coding

关于 TNRC6B

Cytogenetic location: 22q13.1 Genomic coordinates (GRCh38): 22:40,044,834-40,335,808 (from NCBI)

This gene has 9 transcripts (splice variants), 293 orthologues, 5 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 3.9), thyroid (RPKM 2.3) and 25 other tissues.

功能概要

启用 RNA 结合活性。参与基因表达的调控。预测位于胞质溶胶中。预计在 P 体和核质中具有活性。涉及浆膜下子宫肌瘤和子宫肌瘤。 [由基因组资源联盟提供,2022 年 4 月]

Enables RNA binding activity. Involved in regulation of gene expression. Predicted to be located in cytosol. Predicted to be active in P-body and nucleoplasm. Implicated in subserous uterine fibroid and uterine fibroid. [provided by Alliance of Genome Resources, Apr 2022]

TNRC6B 基因产物(3)

mRNA Protein Name
NM_001024843.2 NP_001020014.1 trinucleotide repeat-containing gene 6B protein isoform 3
NM_001162501.2 NP_001155973.1 trinucleotide repeat-containing gene 6B protein isoform 1
NM_015088.3 NP_055903.2 trinucleotide repeat-containing gene 6B protein isoform 2

TNRC6B 蛋白结构

Ago_hook

Ago_hook: Argonaute hook (940 - 1061)

RRM_5

RRM_5: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (1664 - 1718)

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蛋白主名 其他名称

trinucleotide repeat-containing gene 6B protein

trinucleotide repeat containing 6B

关联疾病

疾病名称 别名
Global Developmental Delay With Speech And Behavioral Abnormalities

GDSBA

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Subserous Uterine Fibroid

Subserous Leiomyoma Of Uterus

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Rectum Adenocarcinoma

Rectal Adenocarcinoma

Adenocarcinoma Of Rectum

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12

Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus TNRC6B VGNC VGNC:36205
Macaca mulatta TNRC6B VGNC VGNC:79786
Felis catus TNRC6B VGNC VGNC:66434
Rattus norvegicus TNRC6B RGD RGD:621428
Canis familiaris TNRC6B VGNC VGNC:82302
Mus musculus TNRC6B MGD MGI:2443730