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  2. THAP7 - THAP domain containing 7 Gene

THAP7 - THAP domain containing 7 Gene

中文名称:含 THAP 域 7

种属: Homo sapiens

基因 ID: 80764 | 基因类型: protein coding

关于 THAP7

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:20,999,104-21,002,118 (from NCBI)

This gene has 8 transcripts (splice variants), 173 orthologues and 7 paralogues. Ubiquitous expression in testis (RPKM 11.7), ovary (RPKM 8.9) and 25 other tissues.

功能概要

启用多种功能,包括 C2H2 锌指结构域结合活性;组蛋白结合活性;和组蛋白脱乙酰酶结合活性。参与组蛋白乙酰化的负调节和 RNA 聚合酶 II 转录的负调节。位于核膜和核斑中。 [由基因组资源联盟提供,2022 年 4 月]

Enables several functions, including C2H2 zinc finger domain binding activity; histone binding activity; and histone deacetylase binding activity. Involved in negative regulation of histone acetylation and negative regulation of transcription by RNA polymerase II. Located in nuclear membrane and nuclear speck. [provided by Alliance of Genome Resources, Apr 2022]

THAP7 基因产物(2)

mRNA Protein Name
NM_001008695.1 NP_001008695.1 THAP domain-containing protein 7
NM_030573.3 NP_085050.2 THAP domain-containing protein 7

THAP7 蛋白结构

THAP

THAP: THAP domain (3 - 95)

  • 0
  • 100
  • 200
  • 309 a.a.
蛋白主名 其他名称

THAP domain-containing protein 7

关联疾病

疾病名称 别名
Deafness, Autosomal Dominant 40

DFNA40

Autosomal Dominant Nonsyndromic Deafness 40

Autosomal Dominant Deafness 40

Deafness, Autosomal Dominant, 40

Deafness, Autosomal Dominant, Type 40

Autosomal Dominant Wolfram Syndrome
Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

Exstrophy-Epispadias Complex

Bladder Exstrophy-Epispadias-Cloacal Extrophy Complex

Beec

Eec

Exstrophy Of The Bladder

Bladder Exstrophy

Bladder Exstrophy And Epispadias Complex

Heparin Cofactor Ii Deficiency

Thrombophilia Due To Heparin Cofactor Ii Deficiency

THPH10

Hcf Ii Deficiency

Hcf2 Deficiency

Thrombophilia 10 Due To Heparin Cofactor Ii Deficiency

Hcf 2 Deficiency

Thrombophilia Due To Heparin Cofactor 2 Deficiency

Thrombophilia, Due To Heparin Cofactor Ii Deficiency

Noonan Syndrome 10

NS10

Noonan Syndrome, Type 10

Bladder Exstrophy

Exstrophy Of The Bladder

Classic Exstrophy Of The Bladder

Velocardiofacial Syndrome

Shprintzen Syndrome

VCFS

Chromosome 22q11.2 Deletion Syndrome

Vcf Syndrome

Shprintzen Vcf Syndrome

Vcf-Velocardiofacial Syndrome

Velo-Cardio-Facial Syndrome

Digeorge Syndrome

22q11 Deletion Syndrome

Conotruncal Anomaly Face Syndrome

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome

Autosomal Dominant Opitz G/Bbb Syndrome

Catch22

Cayler Cardiofacial Syndrome

Conotruncal Anomaly Face Syndrome

Digeorge Syndrome

Sedlackova Syndrome

Shprintzen Syndrome

Velocardiofacial Syndrome

22q11.2 Distal Deletion Syndrome

Distal 22q11.2 Microdeletion Syndrome

22q11.2ds

Vcfs

Velo-Cardio-Facial Syndrome

Distal Chromosome 22q11.2 Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome Distal

Chromosome 22q11.2 Deletion Syndrome

Deletion 22q11.2 Syndrome

22q11ds

Catch 22

Digeorge Sequence

Microdeletion 22q11.2

Monosomy 22q11

Takao Syndrome

Distal Del(22)(Q11.2)

Distal Monosomy 22q11.2

Catch 22 Syndrome

Chromosome Deletion Syndrome 22q11.2, Distal

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
Bos taurus THAP7 VGNC VGNC:53925
Canis familiaris THAP7 VGNC VGNC:47331
Rattus norvegicus THAP7 RGD RGD:1308061
Macaca mulatta THAP7 VGNC VGNC:82255
Mus musculus THAP7 MGD MGI:1916259