ZNF384 - zinc finger protein 384 Gene

Also Known as NP; CIZ; NMP4; CAGH1; ERDA2; TNRC1; CAGH1A

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 171017

About 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.

Summary

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 Products (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 Protein Structure

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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  • 500
  • 577 a.a.
Protein Preferred Names Protein Names

zinc finger protein 384

  • CAG repeat protein 1

Related Diseases

Diseases Alias
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

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

Species Symbol Source 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
Others ZNF384 NCBI