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  2. ZIC5 - Zic family member 5 Gene

ZIC5 - Zic family member 5 Gene

中文名称:Zic 家族成员 5

种属: Homo sapiens

基因 ID: 85416 | 基因类型: protein coding

关于 ZIC5

Cytogenetic location: 13q32.3 Genomic coordinates (GRCh38): 13:99,962,964-99,971,909 (from NCBI)

This gene has 1 transcript (splice variant), 237 orthologues and 14 paralogues. Restricted expression toward testis (RPKM 2.7).

功能概要

该基因编码 C2H2 型锌指蛋白 ZIC 家族的一个成员。编码的蛋白质可以作为转录抑制因子。对小鼠和非洲爪蟾的研究支持该基因在神经嵴发育中的作用。已在多种人类癌症中观察到该基因表达升高,并可能促进癌症进展。该基因与 13 号染色体上的相关家族成员密切相关。[RefSeq 提供,2017 年 3 月]

This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. The encoded protein may act as a transcriptional repressor. Studies in mouse and Xenopus support a role for this gene in neural crest development. Elevated expression of this gene has been observed in various human cancers and may contribute to Cancer progression. This gene is closely linked to a related family member on chromosome 13. [provided by RefSeq, Mar 2017]

ZIC5 基因产物(1)

mRNA Protein Name
NM_033132.5 NP_149123.3 zinc finger protein ZIC 5
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 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

ZIC5 蛋白结构

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (480 - 503)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (507 - 534)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (551 - 575)

  • 0
  • 200
  • 400
  • 600
  • 663 a.a.
蛋白主名 其他名称

zinc finger protein ZIC 5

Zic family member 5 (odd-paired homolog, Drosophila)

关联疾病

疾病名称 别名
Holoprosencephaly

Holoprosencephaly Sequence

Hpe

Hpe - [Holoprosencephaly]

Deafness, Autosomal Recessive 109

DFNB109

Autosomal Recessive Nonsyndromic Deafness 109

Autosomal Recessive Deafness 109

Deafness, Autosomal Recessive, 109

Dystonia 16

DYT16

Dyt-Prkra

Dystonia-16

Young-Onset Dystonia-

Early-Onset Dystonia Parkinsonism

Dystonia, Type 16

Brittle Cornea Syndrome 1

Brittle Cornea Syndrome

Fragilitas Oculi With Joint Hyperextensibility

Dysgenesis Mesodermalis Corneae Et Sclerae

BCS1

Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility

Ehlers-Danlos Syndrome, Type Vib, Formerly

Eds6b, Formerly

Type Vib Ehlers-Danlos Syndrome

Eds Vib

Ehlers-Danlos Syndrome Type 6b

Corneal Fragility Keratoglobus Blue Sclerae Joint Hyperextensibility

Eds6b Formerly

Ehlers-Danlos Syndrome Type Vib Formerly

Ehlers-Danlos Syndrome Type 6

Cornea, Brittle, Syndrome

Cornea, Brittle, Syndrome, Type 1

Ehlers-Danlos Syndrome 6b

Gapo Syndrome

GAPOS

Growth Retardation, Alopecia, Pseudoanodontia, And Optic Atrophy

Growth Delay-Alopecia-Pseudoanodontia-Optic Atrophy Syndrome

Growth Retardation, Alopecia, Pseudoanodontia And Optic Atrophy

Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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
Macaca mulatta ZIC5 VGNC VGNC:106314
Felis catus ZIC5 VGNC VGNC:102369
Mus musculus ZIC5 MGD MGI:1929518
Bos taurus ZIC5 VGNC VGNC:107039
Canis familiaris ZIC5 VGNC VGNC:48635
Rattus norvegicus ZIC5 RGD RGD:1310160