2. Gene
  3. POLQ - DNA polymerase theta Gene

POLQ - DNA polymerase theta Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：DNA 聚合酶θ

种属: Homo sapiens

同用名: PRO0327

基因 ID: 10721 | 基因类型: protein coding

关于 POLQ

Cytogenetic location: 3q13.33 Genomic coordinates (GRCh38): 3:121,431,431-121,545,988 (from NCBI)

This gene has 4 transcripts (splice variants), 187 orthologues, 8 paralogues and is associated with 90 phenotypes. Biased expression in bone marrow (RPKM 2.5), lymph node (RPKM 1.7) and 13 other tissues.

功能概要

启用催化活性，作用于 DNA；染色质结合活性；和相同的蛋白质结合活性。参与 DNA 修复；通过同源重组负调控双链断裂修复；和蛋白质同源寡聚化。位于高尔基体；胞质溶胶；和核质。 [由基因组资源联盟提供，2022 年 4 月]

Enables catalytic activity, acting on DNA; chromatin binding activity; and identical protein binding activity. Involved in DNA repair; negative regulation of double-strand break repair via homologous recombination; and protein homooligomerization. Located in Golgi apparatus; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

POLQ 基因产物(1)

mRNA Protein Name
NM_199420.4 NP_955452.3 DNA polymerase theta

POLQ 蛋白结构

DEAD

DEAD: DEAD/DEAH box helicase (104 - 270)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (413 - 485)

HHH_5

HHH_5: Helix-hairpin-helix domain (788 - 884)

DNA_pol_A

DNA_pol_A: DNA polymerase family A (2313 - 2584)

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  • 2590 a.a.
蛋白主名 其他名称

DNA polymerase theta

epididymis secretory sperm binding protein

关联疾病

疾病名称 别名
Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum

XPV

Xeroderma Pigmentosum Variant Type

Xeroderma Pigmentosum With Normal Dna Repair Rates

Photosensitivity With Defective Dna Synthesis

Xp

De Sanctis-Cacchione Syndrome

Desanctis-Cacchione Syndrome

Xeroderma Pigmentosa

Xerodermic Idiocy

Xeroderma Pigmentosum Variant

Xp - [Xeroderma Pigmentosum]

Atrophoderma Pigmentosum
Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation
Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia
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

相关产品

Pre-clinical Phase
生物活性分子 (4)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10836 POLQ Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-158820 Cosdosiran / 否
HY-158820A Cosdosiran sodium / 否
HY-E70364 IgdE protease / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus POLQ VGNC VGNC:68946
Mus musculus POLQ MGD MGI:2155399
Rattus norvegicus POLQ RGD RGD:1309795
Macaca mulatta POLQ VGNC VGNC:76210
Bos taurus POLQ VGNC VGNC:33130
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