1. Gene
  2. GLIS2 - GLIS family zinc finger 2 Gene

GLIS2 - GLIS family zinc finger 2 Gene

中文名称:GLIS 家族锌指 2

种属: Homo sapiens

同用名: NKL; NPHP7

基因 ID: 84662 | 基因类型: protein coding

关于 GLIS2

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:4,314,761-4,339,595 (from NCBI)

This gene has 2 transcripts (splice variants), 1 gene allele, 253 orthologues, 14 paralogues and is associated with 4 phenotypes. Broad expression in kidney (RPKM 14.7), lung (RPKM 9.3) and 23 other tissues.

功能概要

该基因是 Gli 类似锌指蛋白家族的成员,编码具有五个 C2H2 型锌指结构域的核转录因子。由该基因编码的蛋白质在神经管和周围神经系统中以低水平广泛表达,并可能促进神经元分化。它在肾脏中大量表达,可能在肾脏形态发生的调节中起作用。 p120 调节该蛋白的表达水平并诱导该蛋白的 C 末端锌指结构域的切割。该蛋白还促进 p120 的核转位。该基因的突变会导致肾病 (NPHP) ,这是一种常染色体隐性遗传性肾病,其特征是肾小管基底膜破裂、间质性淋巴组织细胞浸润和肾皮质髓质边界囊肿的形成。[RefSeq 提供,2010 年 1 月]

This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear transcription factor with five C2H2-type zinc finger domains. The protein encoded by this gene is widely expressed at low levels in the neural tube and peripheral nervous system and likely promotes neuronal differentiation. It is abundantly expressed in the kidney and may have a role in the regulation of kidney morphogenesis. p120 regulates the expression level of this protein and induces the cleavage of this protein's C-terminal zinc finger domain. This protein also promotes the nuclear translocation of p120. Mutations in this gene cause nephronophthisis (NPHP), an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial lymphohistiocytic cell infiltration, and development of cysts at the corticomedullary border of the kidneys.[provided by RefSeq, Jan 2010]

GLIS2 基因产物(2)

mRNA Protein Name
NM_001318918.2 NP_001305847.1 zinc finger protein GLIS2
NM_032575.3 NP_115964.2 zinc finger protein GLIS2
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
17289029 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

GLIS2 蛋白结构

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (224 - 246)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (249 - 276)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (293 - 317)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 524 a.a.
蛋白主名 其他名称

zinc finger protein GLIS2

GLI-similar 2

GLIS2 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
GLIS2 Q9BZE0 CTBP2 Homo sapiens P56545-3
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 CTBP2 Homo sapiens P56545-3
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 KRTAP19-7 Homo sapiens Q3SYF9
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 KRTAP19-7 Homo sapiens Q3SYF9
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 GPSM1 Homo sapiens Q86YR5-3
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 GPSM1 Homo sapiens Q86YR5-3
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 KRTAP8-1 Homo sapiens Q8IUC2
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 KRTAP8-1 Homo sapiens Q8IUC2
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 KRTAP19-5 Homo sapiens Q3LI72
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 KRTAP19-5 Homo sapiens Q3LI72
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 TLE5 Homo sapiens Q08117-2
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 TLE5 Homo sapiens Q08117-2
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 AKAP9 Homo sapiens Q6PJH3
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 AKAP9 Homo sapiens Q6PJH3
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 KRTAP6-2 Homo sapiens Q3LI66
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 KRTAP6-2 Homo sapiens Q3LI66
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 ACTMAP Homo sapiens Q5BKX5-3
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 ACTMAP Homo sapiens Q5BKX5-3
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 KRTAP19-3 Homo sapiens Q7Z4W3
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 KRTAP19-3 Homo sapiens Q7Z4W3
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 POU6F2 Homo sapiens P78424
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 POU6F2 Homo sapiens P78424
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 WWOX Homo sapiens Q9NZC7-5
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 WWOX Homo sapiens Q9NZC7-5
Validated Y2H
32296183
种属内
GLIS2 Q9BZE0 WWOX Homo sapiens Q9NZC7-5
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 KRTAP6-1 Homo sapiens Q3LI64
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 KRTAP6-1 Homo sapiens Q3LI64
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 ANKRD36B Homo sapiens Q8N2N9-4
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 ANKRD36B Homo sapiens Q8N2N9-4
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 FAM168B Homo sapiens A1KXE4-2
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 FAM168B Homo sapiens A1KXE4-2
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 PRR20D Homo sapiens P86480
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 PRR20D Homo sapiens P86480
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 TSC1 Homo sapiens Q86WV8
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 TSC1 Homo sapiens Q86WV8
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 SHOX Homo sapiens O15266-2
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 SHOX Homo sapiens O15266-2
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 PLEKHB1 Homo sapiens Q9UF11-2
Validated Y2H
32296183
种属内
GLIS2 Q9BZE0 PLEKHB1 Homo sapiens Q9UF11-2
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 PLEKHB1 Homo sapiens Q9UF11-2
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 CREM Homo sapiens Q03060-25
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 CREM Homo sapiens Q03060-25
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 TWIST2 Homo sapiens Q8WVJ9
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 VAC14 Homo sapiens Q08AM6
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 VAC14 Homo sapiens Q08AM6
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 PRKAR1B Homo sapiens P31321
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 PRKAR1B Homo sapiens P31321
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 FOSB Homo sapiens P53539
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 FOSB Homo sapiens P53539
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 ACTN3 Homo sapiens Q08043
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 ACTN3 Homo sapiens Q08043
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 CSNK2B Homo sapiens P67870
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 CSNK2B Homo sapiens P67870
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 VBP1 Homo sapiens P61758
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 VBP1 Homo sapiens P61758
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 GMNN Homo sapiens O75496
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 GMNN Homo sapiens O75496
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 PLEKHB2 Homo sapiens Q96CS7
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 PLEKHB2 Homo sapiens Q96CS7
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 CTNNB1 Homo sapiens P35222
Y2H Pooling
17289029
种属内
GLIS2 Q9BZE0 CTNNB1 Homo sapiens P35222
Pull Down
17289029
种属内
GLIS2 Q9BZE0 ZRANB1 Homo sapiens Q9UGI0
Validated Y2H
32296183
种属内
GLIS2 Q9BZE0 ZRANB1 Homo sapiens Q9UGI0
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 ZRANB1 Homo sapiens Q9UGI0
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 OIP5 Homo sapiens O43482
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 OIP5 Homo sapiens O43482
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 GOLGA6L9 Homo sapiens A6NEM1
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 GOLGA6L9 Homo sapiens A6NEM1
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 BCAR1 Homo sapiens P56945
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 BCAR1 Homo sapiens P56945
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 RBPMS Homo sapiens Q93062-3
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 RBPMS Homo sapiens Q93062-3
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 RBM11 Homo sapiens P57052
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 RBM11 Homo sapiens P57052
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 NME7 Homo sapiens Q9Y5B8
Validated Y2H
32296183
种属内
GLIS2 Q9BZE0 CRX Homo sapiens O43186
Y2H Prey Pooling
32296183
种属内
GLIS2 Q9BZE0 CRX Homo sapiens O43186
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 ARID5A Homo sapiens Q03989
Y2H Array
32296183
种属内
GLIS2 Q9BZE0 ARID5A Homo sapiens Q03989
Y2H Prey Pooling
32296183
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 7

NPHP7

Nephronophthisis, Type 7

Acute Megakaryoblastic Leukemia Without Down Syndrome

Non-Ds-Amkl

Juvenile Nephronophthisis

Nephronophthisis

Nephronophthisis, Familial Juvenile

Nephronophthisis

Medullary Cystic Disease

Medullary Cystic Kidney

Nph

Nphp

Kidney Disease, Cystic, Medullary

Childhood Acute Megakaryoblastic Leukemia

Pediatric Non-Down Syndrome Acute Megakaryoblastic Leukemia

Myeloid Leukemia Associated With Down Syndrome
Kidney Disease

Renal Failure

Kidney Failure

Kidney Diseases

Nephropathy

Abnormality Of The Kidney

Impaired Renal Function Disease

Renal Anomaly

Kidney Dysfunction

Renal Disease

Nephropathies

Renal Failure Adverse Event

Abnormal Renal Function

End Stage Renal Disease

End Stage Renal Failure

End-Stage Kidney Disease

Kidney Failure, Chronic

Chronic Kidney Disease Stage 5

Nephronophthisis 15

NPHP15

Nephronophthisis, Type 15

Nephronophthisis 20

NPHP20

Cd3zeta Deficiency
Nephronophthisis 19

NPHP19

Nephronophthisis, Type 19

Childhood Acute Myeloid Leukemia

Childhood Acute Myeloid Leukaemia

Paediatric Acute Myeloid Leukaemia

Pediatric Acute Myeloid Leukemia

Aggressive Nk-Cell Leukemia

Aggressive Nk-Cell Leukaemia

Large Granular Lymphocyte Leukemia, Nk-Cell Type

Natural Killer Cell Leukaemia

Natural Killer Cell Leukemia

Aggressive Nk Cell Leukemia

Ankl

Aggressive Natural Killer Cell Leukemia

Ankcl

Aggressive Nk-Cell Lymphoma

Nk-Cell Lgl Leukemia

Nk-Cell Large Granular Lymphocyte Leukemia

Abnormality Of The Ankles

Aggressive Natural Killer-Cell Leukemia

Leukemia, Large Granular Lymphocytic

Leukemia, Natural Killer Cell Large Granular Lymphocytic

Nephronophthisis 2

NPHP2

Nph2

Nephronophthisis 2, Infantile

Infantile Nephronophthisis 2

Infantile Nephronophthisis

Nephronophthisis, Type 2

Acute Megakaryocytic Leukemia

Acute Megakaryoblastic Leukemia

Acute Megakaryoblastic Leukaemia

Megakaryocytic Myelosis

Thrombocytic Leukaemia

Amkl

Aml M7

Acute Myeloblastic Leukemia Type 7

Acute Myeloid Leukemia M7

Megakaryoblastic Leukemia Acute

Leukemia, Megakaryoblastic, Acute

Acute Myeloid Leukaemia, M7

Acute Megakaryocytic Leukaemia

Acute Megakaryoblastic Leukaemia, Fab M7

Fab M7

Malignant Megakaryocytosis

M7 - Acute Megakaryoblastic Leukaemia

Megakaryoblastic Leukaemia

Megakaryocytic Leukaemia

Acute Megakaryoblastic Leukaemia, Nos

Acute Megakaryoblastic Leukaemia Without Mention Of Remission

Hypertrichosis Universalis Congenita, Ambras Type

Ambras Syndrome

Hypertrichosis, Congenital Generalized

HTC1

HTC2

Chromosome Xq27.1 Interchromosomal Insertion Syndrome

Cgh

Hcg

Ambras Type Hypertrichosis Universalis Congenita

X-Linked Congenital Generalized Hypertrichosis

Congenital Generalized Hypertrichosis, Macias-Flores Type

Macias Flores-Garcia Cruz-Rivera Syndrome

Htc 1

Hypertrichosis Universalis Congenita Ambras Type

Hypertrichosis Congenital Generalized X-Linked

Macias-Flores Garcia-Cruz Rivera Syndrome

Congenital Generalized Hypertrichosis, Ambras Type

Myeloproliferative Syndrome, Transient

Transient Abnormal Myelopoiesis

Transient Myeloproliferative Syndrome

Transient Myeloproliferative Disease

Mst

Tam

Leukemia, Transient, Of Down Syndrome

Tmd

Leukemia, Transient

Transient Leukemia

Transient Leukemia Of Down Syndrome

Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease

Autosomal Recessive Polycystic Kidney Disease

Arpkd

Polycystic Kidney Disease, Autosomal Recessive

Polycystic Kidney And Hepatic Disease 1

Pkhd1

PKD4

Polycystic Kidney Disease 4 With Or Without Hepatic Disease

Polycystic Kidney Disease, Infantile, Type I

Polycystic Kidney Disease, Infantile Type

Polycystic Kidney, Autosomal Recessive

Pkd3, Formerly

Polycystic Kidney Disease 4, With Or Without Hepatic Disease

Arpkd/Chf

Ar-Pkd

Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease

Infantile Polycystic Kidney Disease Type I

Pkd3

Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease

Polycystic Kidney Disease 3, Autosomal Dominant

Cystic Kidney Disease

Renal Cyst

Simple Renal Cyst

Kidney Cysts

Kidney Diseases, Cystic

Renal Cysts

Kidney Cyst

Cystic Kidney

Congenital Cystic Kidney Disease

Cystic Kidney Diseases

Bosniak 1 Cyst

Senior-Loken Syndrome 1

Senior-Loken Syndrome

Renal Dysplasia And Retinal Aplasia

Renal-Retinal Syndrome

Loken-Senior Syndrome

Juvenile Nephronophthisis With Leber Amaurosis

SLSN1

Senior-Loken Syndrome-1

Loken Senior Syndrome

Senior Loken Syndrome

Renal Dysplasia Retinal Aplasia

Nephronophthisis With Retinal Dystrophy

Renal Dysplasia-Retinal Aplasia Syndrome

Slsn

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

Leukemia, Acute Myeloid

Acute Myeloid Leukemia

Leukemia, Acute Myelogenous

Acute Myelogenous Leukemia

AML

Leukemia, Acute Myeloid, Susceptibility To

Acute Myeloblastic Leukemia

Leukemia, Acute Myeloid, Reduced Survival In, Somatic

Acute Myeloid Leukaemia

Leukemia, Myelocytic, Acute

Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

Secondary Aml

Acute Myelocytic Leukemia

Acute Myeloid Leukemia, Somatic

Leukemia, Acute Myeloid, Somatic

Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

Acute Myeloblastic Leukaemia

Acute Myelogenous Leukaemia

Aml - Acute Myeloid Leukemia

Acute Myeloid Leukemia With Cebpa Somatic Mutations

Aml With Cebpa Somatic Mutations

Inherited Acute Myeloid Leukemia

Familial Aml

Inherited Aml

Pure Familial Aml

Pure Familial Acute Myeloid Leukemia

Secondary Acute Myeloid Leukemia

Therapy-Related Aml And Myelodysplastic Syndrome

Acute Myeloid Leukemia, Secondary

Acute Non-Lymphoblastic Leukemia

Acute Non-Lymphocytic Leukemia

Acute Biphenotypic Leukemia

Acute Undifferentiated Leukemia

Acute Myeloblastic Leukaemia With Multilineage Dysplasia

Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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 GLIS2 RGD RGD:1309177
Felis catus GLIS2 VGNC VGNC:62581
Bos taurus GLIS2 VGNC VGNC:29407
Canis familiaris GLIS2 VGNC VGNC:41262
Macaca mulatta GLIS2 VGNC VGNC:73031
Mus musculus GLIS2 MGD MGI:1932535