1. Gene
  2. PPP2R3C - protein phosphatase 2 regulatory subunit B''gamma Gene

PPP2R3C - protein phosphatase 2 regulatory subunit B''gamma Gene

中文名称:蛋白磷酸酶 2 调节亚基 B''γ

种属: Homo sapiens

同用名: G4-1; G5pr; GDRM; MEGD; SPGF36; C14orf10

基因 ID: 55012 | 基因类型: protein coding

关于 PPP2R3C

Cytogenetic location: 14q13.2 Genomic coordinates (GRCh38): 14:35,085,472-35,122,298 (from NCBI)

This gene has 20 transcripts (splice variants), 207 orthologues and is associated with 2 phenotypes. Broad expression in testis (RPKM 18.2), bone marrow (RPKM 7.6) and 24 other tissues.

功能概要

该基因编码丝氨酸/苏氨酸磷酸酶、蛋白磷酸酶 2 的调节亚基。该蛋白根据细胞周期阶段定位于核和细胞质区域。该基因的纯合子条件性敲除小鼠表现出免疫系统 B 细胞数量减少和增殖受损。该蛋白可通过其磷酸酶活性调节 P-糖蛋白 ATP 结合盒转运蛋白的表达。可变剪接导致多个转录本变体。[RefSeq 提供,2015 年 2 月]

This gene encodes a regulatory subunit of the serine/threonine Phosphatase, protein Phosphatase 2. This protein is localized to both nuclear and cytoplasmic regions depending on cell cycle phase. Homozygous conditional knockout mice for this gene exhibit reduced numbers and impaired proliferation of immune system B cells. This protein may regulate the expression of the P-glycoprotein ATP-binding cassette transporter through its Phosphatase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

PPP2R3C 基因产物(3)

mRNA Protein Name
NM_001305155.2 NP_001292084.1 serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma isoform 2
NM_001305156.2 NP_001292085.1 serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma isoform 2
NM_017917.4 NP_060387.2 serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma isoform 1
蛋白主名 其他名称

serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma

protein phosphatase 2 (formerly 2A), regulatory subunit B''

关联疾病

疾病名称 别名
Spermatogenic Failure 36

SPGF36

Myoectodermal Gonadal Dysgenesis Syndrome

Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy

GDRM

MEGD

Brosnan-Kennerknecht-Guran-Koc Syndrome

Bkgk

Gonadal Dysgenesis

Gonadal Dysgenesis Syndrome

Turner Syndrome

Late Congenital Syphilis

Juvenile Neurosyphilis

Neurosyphilis, Juvenile

Omphalocele

Omphalocoele

Congenital Omphalocele

Exomphalos

Exumbilication

Spastic Paraplegia 9b, Autosomal Recessive

SPG9B

Autosomal Recessive Complex Spastic Paraplegia Type 9b

Hereditary Spastic Paraplegia 9b

Autosomal Recessive Spastic Paraplegia 9b

Autosomal Recessive Spastic Paraplegia Type 9b

Ar-Spg9b

Spastic Paraplegia 9a, Autosomal Dominant

Hereditary Spastic Paraplegia 9a

SPG9A

Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities

Ad-Spg9a

Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome

Spastic Paraparesis With Amyotrophy, Cataracts, And Gastroesophageal Reflux

Autosomal Dominant Complex Spastic Paraplegia Type 9a

Autosomal Dominant Spastic Paraplegia 9a

Cataracts Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome

Cataracts With Motor Neuronopathy, Short Stature And Skeletal Abnormalities

Spastic Paraparesis With Amyopathy, Cataracts And Gastroesophageal Reflux

Autosomal Dominant Spastic Paraplegia Type 9a

Cataracts-Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome

Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux

Spastic Paraplegia 9, Autosomal Dominant

Retinitis Pigmentosa 47

RP47

Retinitis Pigmentosa, Type 47

Skeletal Tuberculosis

Tuberculosis, Osteoarticular

Osteoarticular Tuberculosis

Ovarian Endometrial Cancer

Endometrioid Neoplasm Of Ovary

Malignant Ovarian Endometrioid Tumor

Ovarian Endometrioid Neoplasm

Holoprosencephaly 8

HPE8

Holoprosencephaly-8

Cone Dystrophy

Retinal Cone Dystrophy

Dystrophy, Cone

Cone Dystrophy 3

Holoprosencephaly

Holoprosencephaly Sequence

Hpe

Hpe - [Holoprosencephaly]

Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Myopathy

Muscular Diseases

Myopathies

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 PPP2R3C RGD RGD:1309207
Macaca mulatta PPP2R3C VGNC VGNC:76279
Mus musculus PPP2R3C MGD MGI:1930009
Canis familiaris PPP2R3C VGNC VGNC:44912
Bos taurus PPP2R3C VGNC VGNC:33259
Felis catus PPP2R3C VGNC VGNC:64327