ZBTB11 - zinc finger and BTB domain containing 11 Gene

Also Known as MRT69; ZNF913; ZNF-U69274

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 27107

About 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.

Summary

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 Products (1)

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

ZBTB11 Protein Structure

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.
Protein Preferred Names Protein Names

zinc finger and BTB domain-containing protein 11

関連疾患

Diseases Alias
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

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

Orthologs Information

生物種 Symbol 由来 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
Others ZBTB11 NCBI