1. Gene
  2. ZNF44 - zinc finger protein 44 Gene

ZNF44 - zinc finger protein 44 Gene

中文名称:锌指蛋白 44

种属: Homo sapiens

同用名: ZNF; KOX7; ZNF55; ZNF58; GIOT-2; ZNF504

基因 ID: 51710 | 基因类型: protein coding

关于 ZNF44

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:12,224,686-12,294,883 (from NCBI)

This gene has 9 transcripts (splice variants), 45 orthologues and 15 paralogues. Ubiquitous expression in thyroid (RPKM 2.6), kidney (RPKM 2.3) and 25 other tissues.

功能概要

预测启用 DNA 结合转录因子活性、RNA 聚合酶 II 特异性和 RNA 聚合酶 II 转录调节区序列特异性 DNA 结合活性。预计参与 RNA 聚合酶 II 的转录调控。预计活跃于核心。 [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 transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

ZNF44 基因产物(7)

mRNA Protein Name
NM_001164276.2 NP_001157748.1 zinc finger protein 44 isoform 1
NM_001353549.2 NP_001340478.1 zinc finger protein 44 isoform 3
NM_001353550.2 NP_001340479.1 zinc finger protein 44 isoform 3
NM_001353551.1 NP_001340480.1 zinc finger protein 44 isoform 3
NM_001353552.2 NP_001340481.1 zinc finger protein 44 isoform 4
NM_001353553.2 NP_001340482.1 zinc finger protein 44 isoform 4
NM_016264.4 NP_057348.3 zinc finger protein 44 isoform 2

ZNF44 蛋白结构

KRAB

KRAB: KRAB box (52 - 92)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (217 - 236)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (260 - 282)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (288 - 310)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (316 - 339)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (343 - 366)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (372 - 394)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (428 - 451)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (456 - 480)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (483 - 506)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (511 - 535)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (541 - 563)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (567 - 589)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (595 - 619)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (624 - 647)

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蛋白主名 其他名称

zinc finger protein 44

gonadotropin inducible transcription repressor-2

关联疾病

疾病名称 别名
Immunodeficiency 55

Combined Immunodeficiency Due To Gins1 Deficiency

IMD55

Cid Due To Gins1 Deficiency

Combined Immunodeficiency With Intrauterine Growth Retardation-Nk Cell Deficiency-Neutropenia

Combined Immunodeficiency With Intrauterine Growth Retardation-Natural Killer Cell Deficiency-Neutropenia

Myopathy, Tubular Aggregate, 1

Tubular Aggregate Myopathy

Tam

Myopathy With Tubular Aggregates

TAM1

Myopathy, Tubular Aggregate

Tubular Aggregate Myopathy 1

Autosomal Dominant Intellectual Developmental Disorder 40

Autosomal Dominant Non-Syndromic Intellectual Disability 40

Autosomal Dominant Mental Retardation 40

Mrd40

Mental Retardation, Autosomal Dominant 40

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