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  2. PARP12 - poly(ADP-ribose) polymerase family member 12 Gene

PARP12 - poly(ADP-ribose) polymerase family member 12 Gene

中文名称:聚 (ADP-核糖) 聚合酶家族成员 12

种属: Homo sapiens

同用名: ZC3H1; ARTD12; MST109; MSTP109; ZC3HDC1

基因 ID: 64761 | 基因类型: protein coding

关于 PARP12

Cytogenetic location: 7q34 Genomic coordinates (GRCh38): 7:140,023,749-140,062,951 (from NCBI)

This gene has 12 transcripts (splice variants), 219 orthologues and 8 paralogues. Ubiquitous expression in duodenum (RPKM 11.7), small intestine (RPKM 11.3) and 25 other tissues.

功能概要

启用蛋白质 ADP-核糖基酶活性。参与蛋白质自身-ADP-核糖基化和蛋白质单-ADP-核糖基化。预测位于核内。 [由基因组资源联盟提供,2022 年 4 月]

Enables protein ADP-ribosylase activity. Involved in protein auto-ADP-ribosylation and protein mono-ADP-ribosylation. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

PARP12 基因产物(1)

mRNA Protein Name
NM_022750.4 NP_073587.1 protein mono-ADP-ribosyltransferase PARP12

PARP12 蛋白结构

zf-CCCH

zf-CCCH: Zinc finger C-x8-C-x5-C-x3-H type (and similar) (180 - 200)

PARP

PARP: Poly(ADP-ribose) polymerase catalytic domain (499 - 678)

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

protein mono-ADP-ribosyltransferase PARP12

ADP-ribosyltransferase diphtheria toxin-like 12

关联疾病

疾病名称 别名
Osebold-Remondini Syndrome

Brachydactyly Type A6

Brachymesophalangy With Mesomelic Short Limbs And Carpal And Tarsal Osseous Abnormalities

Bda6

Brachydactyly, Type A6

Osteogenesis Imperfecta, Type Xx

OI20

Osteogenesis Imperfecta Type 20

Osteogenesis Imperfecta, Type 20

Osteogenesis Imperfecta Type Xx

Osteogenesis Imperfecta 20

Intellectual Developmental Disorder, Autosomal Dominant 22

MRD22

Mental Retardation, Autosomal Dominant 22

Autosomal Dominant Non-Syndromic Intellectual Disability 22

Distal Monosomy 1q

Autosomal Dominant Intellectual Developmental Disorder 22

Autosomal Dominant Mental Retardation 22

Distal Deletion 1q

Monosomy 1qter

Telomeric Deletion 1q

Mental Retardation, Autosomal Dominant, Type 22

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 PARP12 RGD RGD:1308628
Macaca mulatta PARP12 VGNC VGNC:81734
Mus musculus PARP12 MGD MGI:2143990
Felis catus PARP12 VGNC VGNC:80646
Canis familiaris PARP12 VGNC VGNC:51818
Bos taurus PARP12 VGNC VGNC:107230