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

ZNF423 - zinc finger protein 423 Gene

中文名称:锌指蛋白 423

种属: Homo sapiens

同用名: OAZ; Roaz; hOAZ; Ebfaz; JBTS19; NPHP14; ZFP423; Zfp104

基因 ID: 23090 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是一种核蛋白,属于类 Kruppel C2H2 锌指蛋白家族。它通过在不同的信号通路中使用不同的锌指来充当 DNA 结合转录因子。因此,认为该基因可能在发育过程中的信号转导中具有多种作用。该基因的突变与 nephronophthisis-14 和 Joubert 综合征 19 相关。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2012 年 10 月]

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 基因产物(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 蛋白结构

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.
蛋白主名 其他名称

zinc finger protein 423

OLF-1/EBF associated zinc finger

ZNF423 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ZNF423 Q2M1K9 CEP290 Homo sapiens O15078
Y2H
22863007
种属内
ZNF423 Q2M1K9 CEP290 Homo sapiens O15078 22863007
种属内
ZNF423 Q2M1K9 PARP1 Homo sapiens P09874 22863007
种属内
ZNF423 Q2M1K9 RARA Homo sapiens P10276 19345331
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

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
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