1. Gene
  2. ZBTB11 - zinc finger and BTB domain containing 11 Gene

ZBTB11 - zinc finger and BTB domain containing 11 Gene

中文名称:含锌指和 BTB 域 11

种属: Homo sapiens

同用名: MRT69; ZNF913; ZNF-U69274

基因 ID: 27107 | 基因类型: protein coding

关于 ZBTB11

Cytogenetic location: 3q12.3 Genomic coordinates (GRCh38): 3:101,648,889-101,677,132 (from NCBI)

This gene has 15 transcripts (splice variants), 213 orthologues, 38 paralogues and is associated with 1 phenotype. Ubiquitous expression in bone marrow (RPKM 8.1), testis (RPKM 5.9) and 25 other tissues.

功能概要

预测可实现 DNA 结合转录因子活性、RNA 聚合酶 II 特异性和 RNA 聚合酶 II 顺式调节区序列特异性 DNA 结合活性。预计参与转录调控,以 DNA 为模板。位于核质中。与常染色体隐性非综合征性智力障碍有关。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription, DNA-templated. Located in nucleoplasm. Implicated in autosomal recessive non-syndromic intellectual disability. [provided by Alliance of Genome Resources, Apr 2022]

ZBTB11 基因产物(1)

mRNA Protein Name
NM_014415.4 NP_055230.2 zinc finger and BTB domain-containing protein 11

ZBTB11 蛋白结构

BTB

BTB: BTB/POZ domain (204 - 306)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (569 - 591)

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (597 - 619)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (665 - 688)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (721 - 745)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (780 - 803)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (822 - 846)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (859 - 880)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (900 - 923)

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  • 1053 a.a.
蛋白主名 其他名称

zinc finger and BTB domain-containing protein 11

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, Autosomal Recessive 69

MRT69

Mental Retardation, Autosomal Recessive 69

Autosomal Recessive Intellectual Developmental Disorder 69

Chromosome 3q13.31 Deletion Syndrome

3q13 Microdeletion Syndrome

Monosomy 3q13

Chromosome 3, Monosomy 3q13

Del(3)(Q13)

Syndromic Intellectual Disability
Galactosemia Iii

Galactose Epimerase Deficiency

Gale Deficiency

Udp-Galactose-4-Epimerase Deficiency

Epimerase Deficiency Galactosemia

Galactosemia Type 3

Gale-D

Uridine Diphosphate Galactose-4-Epimerase Deficiency

GALAC3

Galactosemia 3

Generalized Uridine Diphosphate Galactose-4-Epimerase Deficiency

Erythrocyte Uridine Diphosphate Galactose-4-Epimerase Deficiency

Galactosemia Type Iii

Udp-Galactose-4'-Epimerase Deficiency

Generalized Galactose Epimerase Deficiency

Generalized Gale Deficiency

Generalized Gale-D

Generalized Udp-Galactose-4-Epimerase Deficiency

Generalized Epimerase Deficiency Galactosemia

Erythrocyte Galactose Epimerase Deficiency

Erythrocyte Gale Deficiency

Erythrocyte Gale-D

Erythrocyte Udp-Galactose-4-Epimerase Deficiency

Erythrocyte Epimerase Deficiency Galactosemia

Galactosemias

Classical Galactosemia

Udpglucose 4-Epimerase Deficiency Disease

Combined Malonic And Methylmalonic Aciduria

CMAMMA

Combined Malonic And Methylmalonic Acidemia

Aciduria, Combined Malonic And Methylmalonic

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
Rattus norvegicus ZBTB11 RGD RGD:1308275
Mus musculus ZBTB11 MGD MGI:2443876
Felis catus ZBTB11 VGNC VGNC:102871
Bos taurus ZBTB11 VGNC VGNC:37059
Macaca mulatta ZBTB11 VGNC VGNC:82563
Canis familiaris ZBTB11 VGNC VGNC:48521