1. Gene
  2. CHD9 - chromodomain helicase DNA binding protein 9 Gene

CHD9 - chromodomain helicase DNA binding protein 9 Gene

中文名称:染色质域解旋酶 DNA 结合蛋白 9

种属: Homo sapiens

同用名: AD013; CHD-9; CReMM; KISH2; PRIC320

基因 ID: 80205 | 基因类型: protein coding

关于 CHD9

Cytogenetic location: 16q12.2 Genomic coordinates (GRCh38): 16:53,054,991-53,327,497 (from NCBI)

This gene has 21 transcripts (splice variants), 218 orthologues and 30 paralogues. Ubiquitous expression in thyroid (RPKM 7.0), ovary (RPKM 6.1) and 25 other tissues.

功能概要

预测启用 ATP 绑定活动; ATP 依赖性活动,作用于 DNA;和 DNA 结合活性。预计参与 DNA 双链体解旋和染色质组织。位于细胞质和核质中。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable ATP binding activity; ATP-dependent activity, acting on DNA; and DNA binding activity. Predicted to be involved in DNA duplex unwinding and chromatin organization. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

CHD9 基因产物(9)

mRNA Protein Name
NM_001308319.2 NP_001295248.1 chromodomain-helicase-DNA-binding protein 9 isoform 1
NM_001352127.3 NP_001339056.1 chromodomain-helicase-DNA-binding protein 9 isoform 2
NM_001352156.3 NP_001339085.1 chromodomain-helicase-DNA-binding protein 9 isoform 3
NM_001352157.3 NP_001339086.1 chromodomain-helicase-DNA-binding protein 9 isoform 4
NM_001352158.3 NP_001339087.1 chromodomain-helicase-DNA-binding protein 9 isoform 5
NM_001382353.1 NP_001369282.1 chromodomain-helicase-DNA-binding protein 9 isoform 1
NM_001382354.1 NP_001369283.1 chromodomain-helicase-DNA-binding protein 9 isoform 6
NM_001382355.1 NP_001369284.1 chromodomain-helicase-DNA-binding protein 9 isoform 7
NM_025134.7 NP_079410.4 chromodomain-helicase-DNA-binding protein 9 isoform 2
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
16554032 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

CHD9 蛋白结构

Chromo

Chromo: Chromo (CHRromatin Organisation MOdifier) domain (691 - 750)

Chromo

Chromo: Chromo (CHRromatin Organisation MOdifier) domain (774 - 826)

SNF2_N

SNF2_N: SNF2 family N-terminal domain (863 - 1150)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (1217 - 1296)

BRK

BRK: BRK domain (2481 - 2522)

BRK

BRK: BRK domain (2554 - 2599)

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  • 2897 a.a.
蛋白主名 其他名称

chromodomain-helicase-DNA-binding protein 9

ATP-dependent helicase CHD9

关联疾病

疾病名称 别名
Childhood Supratentorial Ependymoma

Paediatric Cerebral Ependymoma

Paediatric Supratentorial Ependymoblastoma

Paediatric Supratentorial Ependymoma

Pediatric Cerebral Ependymoma

Pediatric Supratentorial Ependymoblastoma

Pediatric Supratentorial Ependymoma

Charge Syndrome

Charge Association

Hall-Hittner Syndrome

Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies

Hhs

Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies

Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome

CHARGES

Choanal Atresia, Posterior

Choanal Atresia

Atresia Of Nares

Posterior Choanal Atresia

PCA

Imperforate Nares

Choanal Fusion

Congenital Stenosis Of Nares

Congenital Stenosis Of Choanae

Nasal Atresia Nos

Coloboma Of Macula

Coloboma

Congenital Ocular Coloboma

Microphthalmia, Isolated, With Coloboma

Agenesis Of Macula

Hereditary Macular Coloboma

Ocular Coloboma

Coloboma Of Eye

Macular Coloboma

Uveoretinal Coloboma

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 CHD9 RGD RGD:1306795
Bos taurus CHD9 VGNC VGNC:27284
Canis familiaris CHD9 VGNC VGNC:39207
Macaca mulatta CHD9 VGNC VGNC:71101
Mus musculus CHD9 MGD MGI:1924001