1. Gene
  2. ZNF384 - zinc finger protein 384 Gene

ZNF384 - zinc finger protein 384 Gene

中文名称:锌指蛋白 384

种属: Homo sapiens

同用名: NP; CIZ; NMP4; CAGH1; ERDA2; TNRC1; CAGH1A

基因 ID: 171017 | 基因类型: protein coding

关于 ZNF384

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:6,666,477-6,689,572 (from NCBI)

This gene has 17 transcripts (splice variants), 279 orthologues, 36 paralogues and is associated with 47 phenotypes. Ubiquitous expression in bone marrow (RPKM 12.2), testis (RPKM 12.0) and 25 other tissues.

功能概要

该基因编码一种 C2H2 型锌指蛋白,可作为转录因子发挥作用。该基因还包含编码连续谷氨酰胺残基的长 CAG 三核苷酸重复序列。该蛋白似乎结合并调节细胞外基质基因 MMP1、MMP3、MMP7 和 COL1A1 的启动子。小鼠研究表明,核基质转录因子 (NP/NMP4) 可能是在细胞外基质重塑过程中耦合细胞构建和功能的一般机械通路的一部分。可变剪接导致多个转录本变体。在急性白血病中观察到该基因与 22 号染色体上的尤文氏肉瘤基因 EWSR1 或 17 号染色体上的 TAF15 基因或 19 号染色体上的 TCF3 (E2A) 基因的反复重排。已在 7 号染色体上鉴定出一个相关的假基因。[RefSeq 提供,2011 年 4 月]

This gene encodes a C2H2-type zinc finger protein, which may function as a transcription factor. This gene also contains long CAG trinucleotide repeats that encode consecutive glutamine residues. The protein appears to bind and regulate the promoters of the extracellular matrix genes MMP1, MMP3, MMP7 and COL1A1. Studies in mouse suggest that nuclear matrix transcription factors (NP/NMP4) may be part of a general mechanical pathway that couples cell construction and function during extracellular matrix remodeling. Alternative splicing results in multiple transcript variants. Recurrent rearrangements of this gene with the Ewing's sarcoma gene, EWSR1 on chromosome 22, or with the TAF15 gene on chromosome 17, or with the TCF3 (E2A) gene on chromosome 19, have been observed in acute leukemia. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Apr 2011]

ZNF384 基因产物(66)

mRNA Protein Name
NM_001039920.3 NP_001035009.1 zinc finger protein 384 isoform c
NM_001135734.3 NP_001129206.1 zinc finger protein 384 isoform d
NM_001385739.1 NP_001372668.1 zinc finger protein 384 isoform a
NM_001385740.1 NP_001372669.1 zinc finger protein 384 isoform a
NM_001385741.1 NP_001372670.1 zinc finger protein 384 isoform b
NM_001385742.1 NP_001372671.1 zinc finger protein 384 isoform b
NM_001385743.1 NP_001372672.1 zinc finger protein 384 isoform e
NM_001385744.1 NP_001372673.1 zinc finger protein 384 isoform e
NM_001385745.1 NP_001372674.1 zinc finger protein 384 isoform e
NM_001385746.1 NP_001372675.1 zinc finger protein 384 isoform e
NM_001385747.1 NP_001372676.1 zinc finger protein 384 isoform e
NM_001385748.1 NP_001372677.1 zinc finger protein 384 isoform f
NM_001385749.1 NP_001372678.1 zinc finger protein 384 isoform f
NM_001385750.1 NP_001372679.1 zinc finger protein 384 isoform d
NM_001385751.1 NP_001372680.1 zinc finger protein 384 isoform d
NM_001385752.1 NP_001372681.1 zinc finger protein 384 isoform d
NM_001385753.1 NP_001372682.1 zinc finger protein 384 isoform d
NM_001385754.1 NP_001372683.1 zinc finger protein 384 isoform d
NM_001385755.1 NP_001372684.1 zinc finger protein 384 isoform d
NM_001385756.1 NP_001372685.1 zinc finger protein 384 isoform d
NM_001385757.1 NP_001372686.1 zinc finger protein 384 isoform d
NM_001385758.1 NP_001372687.1 zinc finger protein 384 isoform g
NM_001385759.1 NP_001372688.1 zinc finger protein 384 isoform g
NM_001385760.1 NP_001372689.1 zinc finger protein 384 isoform g
NM_001385761.1 NP_001372690.1 zinc finger protein 384 isoform g
NM_001385762.1 NP_001372691.1 zinc finger protein 384 isoform h
NM_001385763.1 NP_001372692.1 zinc finger protein 384 isoform i
NM_001385764.1 NP_001372693.1 zinc finger protein 384 isoform i
NM_001385765.1 NP_001372694.1 zinc finger protein 384 isoform i
NM_001385766.1 NP_001372695.1 zinc finger protein 384 isoform i
NM_001385767.1 NP_001372696.1 zinc finger protein 384 isoform i
NM_001385768.1 NP_001372697.1 zinc finger protein 384 isoform j
NM_001385769.1 NP_001372698.1 zinc finger protein 384 isoform j
NM_001385770.1 NP_001372699.1 zinc finger protein 384 isoform j
NM_001385771.1 NP_001372700.1 zinc finger protein 384 isoform k
NM_001385772.1 NP_001372701.1 zinc finger protein 384 isoform l
NM_001385773.1 NP_001372702.1 zinc finger protein 384 isoform a
NM_001385774.1 NP_001372703.1 zinc finger protein 384 isoform a
NM_001385775.1 NP_001372704.1 zinc finger protein 384 isoform a
NM_001385776.1 NP_001372705.1 zinc finger protein 384 isoform a
NM_001385777.1 NP_001372706.1 zinc finger protein 384 isoform a
NM_001385778.1 NP_001372707.1 zinc finger protein 384 isoform a
NM_001385779.1 NP_001372708.1 zinc finger protein 384 isoform a
NM_001385780.1 NP_001372709.1 zinc finger protein 384 isoform a
NM_001385781.1 NP_001372710.1 zinc finger protein 384 isoform a
NM_001385782.1 NP_001372711.1 zinc finger protein 384 isoform a
NM_001385783.1 NP_001372712.1 zinc finger protein 384 isoform a
NM_001385784.1 NP_001372713.1 zinc finger protein 384 isoform a
NM_001385785.1 NP_001372714.1 zinc finger protein 384 isoform a
NM_001385786.1 NP_001372715.1 zinc finger protein 384 isoform a
NM_001385787.1 NP_001372716.1 zinc finger protein 384 isoform b
NM_001385788.1 NP_001372717.1 zinc finger protein 384 isoform b
NM_001385789.1 NP_001372718.1 zinc finger protein 384 isoform b
NM_001385790.1 NP_001372719.1 zinc finger protein 384 isoform b
NM_001385791.1 NP_001372720.1 zinc finger protein 384 isoform b
NM_001385792.1 NP_001372721.1 zinc finger protein 384 isoform b
NM_001385793.1 NP_001372722.1 zinc finger protein 384 isoform b
NM_001385794.1 NP_001372723.1 zinc finger protein 384 isoform b
NM_001385795.1 NP_001372724.1 zinc finger protein 384 isoform b
NM_001385796.1 NP_001372725.1 zinc finger protein 384 isoform m
NM_001385797.1 NP_001372726.1 zinc finger protein 384 isoform n
NM_001385798.1 NP_001372727.1 zinc finger protein 384 isoform c
NM_001385799.1 NP_001372728.1 zinc finger protein 384 isoform c
NM_001385800.1 NP_001372729.1 zinc finger protein 384 isoform c
NM_001385801.1 NP_001372730.1 zinc finger protein 384 isoform o
NM_133476.5 NP_597733.2 zinc finger protein 384 isoform a

ZNF384 蛋白结构

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (244 - 267)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (271 - 294)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (304 - 328)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (332 - 355)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (359 - 385)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (403 - 425)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (433 - 455)

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  • 577 a.a.
蛋白主名 其他名称

zinc finger protein 384

CAG repeat protein 1

关联疾病

疾病名称 别名
Mixed Phenotype Acute Leukemia, B/Myeloid

Doid:0081038

Acute Leukemia

Stem Cell Leukaemia

Stem Cell Leukemia

Acute Leukemias

Acute Undifferentiated Leukemia

Undifferentiated Leukemia

Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission

Blast Cell Leukaemia

Blast Leukaemia

Blastic Leukaemia

Undifferentiated Leukaemia

B-Lymphoblastic Leukemia/Lymphoma With Tcf3-Pbx1

B Acute Lymphoblastic Leukemia With T(1

19)(Q23

P13.3)

E2a-Pbx1 (Tcf3-Pbx1)

B-All With Tcf3-Pbx1

B-Lymphoblastic Leukemia/Lymphoma With T(1

19)(Q23

P13.3)

Tcf3-Pbx1

Acute Biphenotypic Leukemia

Mixed Phenotype Acute Leukemia

Acute Leukemia Of Ambiguous Lineage

Acute Undifferentiated Leukemia

Acute Leukemia Of Indeterminate Lineage

Hybrid Acute Leukemia

Mixed Lineage Acute Leukemia

All With Myeloid Markers

Aml With Lymphoid Markers

Acute Leukemia Of Undetermined Lineage

Bal

Biphenotypic Acute Leukemia

Undifferentiated Acute Leukemia

Mpal

Acute Myeloid Leukemia, Minimal Differentiation, Fab M0

Leukemia, Biphenotypic, Acute

Pineal Region Germinoma

Pineal Germinoma

B-Lymphoblastic Leukemia/Lymphoma With Iamp21

B-All With Iamp21

Intrachromosomal Amplification Of Chromosome 21

B-Lymphoblastic Leukemia/Lymphoma With Hyperdiploidy

B-All With Hyperdiploidy

B Lymphoblastic Leukemia Lymphoma With Hyperdiploidy

Myxoid Chondrosarcoma
B-Cell Adult Acute Lymphocytic Leukemia

Adult B Acute Lymphoblastic Leukemia

Adult B Acute Lymphoblastic Leukaemia

Adult B-Cell Acute Lymphoblastic Leukaemia

Adult B-Cell Acute Lymphoblastic Leukemia

Adult B-Cell Lymphocytic Leukaemia

Adult B-Cell Lymphocytic Leukemia

Adult B-Lymphoblastic Leukaemia

Adult B-Lymphoblastic Leukemia

B-Cell Adult Acute Lymphocytic Leukaemia

B-Cell Adult Acute Lymphoblastic Leukemia

Sarcoma

Connective And Soft Tissue Neoplasm

Tumor Of Soft Tissue And Skeleton

Sarcomas

Sarcoma - Category

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
Canis familiaris ZNF384 VGNC VGNC:48713
Macaca mulatta ZNF384 VGNC VGNC:78610
Mus musculus ZNF384 MGD MGI:2443203
Bos taurus ZNF384 VGNC VGNC:37262
Felis catus ZNF384 VGNC VGNC:67299
Rattus norvegicus ZNF384 RGD RGD:708346