2. Gene
  3. ZNF423 - zinc finger protein 423 Gene

ZNF423 - zinc finger protein 423 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 23090 | Gene type: protein coding

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)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1200
  • 1284 a.a.
Protein Preferred Names Protein Names

zinc finger protein 423

OLF-1/EBF associated zinc finger

ZNF423 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra ZNF423 Q2M1K9 CEP290 Homo sapiens O15078
Y2H
22863007
Intra ZNF423 Q2M1K9 CEP290 Homo sapiens O15078
Anti Tag CoIP
22863007
Intra ZNF423 Q2M1K9 PARP1 Homo sapiens P09874
Anti Tag CoIP
22863007
Intra ZNF423 Q2M1K9 RARA Homo sapiens P10276
Pull Down
19345331
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS16139 ZNF423 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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