ZNF423 - zinc finger protein 423 Gene

Also Known as OAZ; Roaz; hOAZ; Ebfaz; JBTS19; NPHP14; ZFP423; Zfp104

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 23090

About ZNF423

Cytogenetic location: 16q12.1 Genomic coordinates (GRCh38): 16:49,487,524-49,859,279 (from NCBI)

This gene has 7 transcripts (splice variants), 201 orthologues, 7 paralogues and is associated with 4 phenotypes. Ubiquitous expression in fat (RPKM 2.2), ovary (RPKM 1.9) and 23 other tissues.

Summary

The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2012]

ZNF423 Products (4)

mRNA Protein Name
NM_001271620.2 NP_001258549.1 zinc finger protein 423 isoform 2
NM_001330533.2 NP_001317462.1 zinc finger protein 423 isoform 3
NM_001379286.1 NP_001366215.1 zinc finger protein 423 isoform 4
NM_015069.5 NP_055884.2 zinc finger protein 423 isoform 1

ZNF423 Protein Structure

zf-C2H2_6

zf-C2H2_6: C2H2-type zinc finger (66 - 91)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (138 - 160)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (182 - 204)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (208 - 233)

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (264 - 286)

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (409 - 433)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (480 - 503)

zf-C2H2_6

zf-C2H2_6: C2H2-type zinc finger (517 - 542)

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (632 - 654)

zf-C2H2_6

zf-C2H2_6: C2H2-type zinc finger (664 - 684)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (692 - 713)

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (720 - 743)

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (781 - 803)

zf-C2H2_6

zf-C2H2_6: C2H2-type zinc finger (807 - 830)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (944 - 968)

zf-C2H2_6

zf-C2H2_6: C2H2-type zinc finger (1063 - 1079)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (1121 - 1143)

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (1168 - 1190)

zf-C2H2_6

zf-C2H2_6: C2H2-type zinc finger (1198 - 1209)

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (1229 - 1252)

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  • 1284 a.a.
Protein Preferred Names Protein Names

zinc finger protein 423

  • OLF-1/EBF associated zinc finger

ZNF423 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
ZNF423 Q2M1K9 CEP290 Homo sapiens O15078
Y2H
22863007
Intra
ZNF423 Q2M1K9 CEP290 Homo sapiens O15078 22863007
Intra
ZNF423 Q2M1K9 PARP1 Homo sapiens P09874 22863007
Intra
ZNF423 Q2M1K9 RARA Homo sapiens P10276 19345331
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases Alias
Nephronophthisis 14
  • Joubert Syndrome 19

  • NPHP14

  • JBTS19

  • Nephronophthisis, Type 14

Arima Syndrome
  • Dekaban-Arima Syndrome

  • Joubert Syndrome With Bilateral Chorioretinal Coloboma

  • Cors

  • Cerebello-Oculo-Renal Syndrome

  • Cerebellooculorenal Syndrome

  • Js Type B

  • Js-Or

  • Joubert Syndrome 5

  • Joubert Syndrome With Senior-Loken Syndrome

  • Joubert Syndrome With Oculorenal Defect

  • Coloboma, Chorioretinal, With Cerebellar Vermis Aplasia

  • Cerebrooculohepatorenal Syndrome

  • Joubert Syndrome With Oculorenal Anomalies

  • Cerebro-Oculo-Hepato-Renal Syndrome

  • Chorioretinal Coloboma With Cerebellar Vermis Aplasia

  • Dekaban Arima Syndrome

  • Cor

  • Bj

  • Familial Aplasia Of The Vermis

Infantile Nephronophthisis
  • Autosomal Recessive Infantile Nphp

  • Autosomal Recessive Infantile Nephronophthisis

  • Nephronophthisis 2

Nephronophthisis
  • Medullary Cystic Disease

  • Medullary Cystic Kidney

  • Nph

  • Nphp

  • Kidney Disease, Cystic, Medullary

Nephronophthisis 20
  • NPHP20

Situs Inversus
  • Situs Inversus Viscerum

  • Laterality Sequence

  • Complete Transposition

  • Siv

Polycystic Kidney Disease
  • Polycystic Kidney Diseases

  • Pkd

  • Polycystic Renal Disease

  • Kidney Disease, Polycystic

  • Polycystic Kidney, Autosomal Dominant

Joubert Syndrome 1
  • Joubert Syndrome

  • Jbts

  • Cerebellooculorenal Syndrome 1

  • JBTS1

  • Joubert-Boltshauser Syndrome

  • Cerebelloparenchymal Disorder Iv

  • Cpd4

  • Cors1

  • Joubert Syndrome And Related Disorders

  • Jsrd

  • Familial Aplasia Of The Vermis

  • Joubert Syndrome Related Disorders

  • Js

  • Cerebellar Vermis Agenesis

  • Cerebelloparenchymal Disorder 4

  • Agenesis Of Cerebellar Vermis

  • Cerebello-Oculo-Renal Syndrome

  • Cors

  • Joubert-Bolthauser Syndrome

  • Cpd Iv

  • Classic Joubert Syndrome

  • Joubert Syndrome Type A

  • Pure Joubert Syndrome

  • Cerebello-Oculo-Renal Syndrome 1

  • Joubert Syndrome-1

  • Joubert Syndrome, Type 1

  • Joubert'S Syndrome

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 ZNF423 RGD RGD:621664
Mus musculus ZNF423 MGD MGI:1891217
Canis familiaris ZNF423 VGNC VGNC:48723
Bos taurus ZNF423 VGNC VGNC:37273
Macaca mulatta ZNF423 VGNC VGNC:99636
Others ZNF423 NCBI