1. Gene
  2. PCNX2 - pecanex 2 Gene

PCNX2 - pecanex 2 Gene

中文名称:山核桃 2

种属: Homo sapiens

同用名: PCNXL2

基因 ID: 80003 | 基因类型: protein coding

关于 PCNX2

Cytogenetic location: 1q42.2 Genomic coordinates (GRCh38): 1:232,983,435-233,327,329 (from NCBI)

This gene has 23 transcripts (splice variants), 207 orthologues and 3 paralogues. Ubiquitous expression in brain (RPKM 5.2), ovary (RPKM 2.2) and 22 other tissues.

功能概要

该基因包含与高微卫星不稳定性 (MSI-H) 肿瘤相关的编码单核苷酸重复序列。该基因的缺陷与 MSI-H 结直肠癌的肿瘤发生有关。[RefSeq 提供,2016 年 6 月]

This gene contains coding mononucleotide repeats that are associated with tumors of high mcrosatellite instability (MSI-H). Defects in this gene are involved in the tumorigenesis of MSI-H colorectal carcinomas. [provided by RefSeq, Jun 2016]

PCNX2 基因产物(2)

mRNA Protein Name
NM_001328607.3 NP_001315536.1 pecanex-like protein 2 isoform 2
NM_014801.4 NP_055616.3 pecanex-like protein 2 isoform 1
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
32296183 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

PCNX2 蛋白结构

Pecanex_C

Pecanex_C: Pecanex protein (C-terminus) (1618 - 1845)

  • 0
  • 400
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  • 2000
  • 2137 a.a.
蛋白主名 其他名称

pecanex-like protein 2

pecanex homolog 2

关联疾病

疾病名称 别名
Autosomal Dominant Nonsyndromic Deafness 78

Dfna78

Latent Syphilis

Syphilis, Latent

Chromosome 4q21 Deletion Syndrome

4q21 Microdeletion Syndrome

Monosomy 4q21

Del(4)(Q21)

Chromosome Deletion Syndrome 4q21

Tabes Dorsalis

Posterior Spinal Sclerosis

Tabes Dorsalis - Neurosyphilis

Syphilitic Myelopathy

Branchiootorenal Syndrome 1

Melnick-Fraser Syndrome

BOR1

Branchiootorenal Dysplasia

Branchiootorenal Syndrome 1, With Or Without Cataracts

Bor Syndrome 1

Branchiootorenal Dysplasia 1

Branchio-Oto-Renal Dysplasia 1

Branchio-Oto-Renal Syndrome Type 1

Branchiootorenal Syndrome, With/Without Cataract, Type 1

Branchio-Oto-Renal Syndrome

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
Felis catus PCNX2 VGNC VGNC:82449
Mus musculus PCNX2 MGD MGI:2445010
Bos taurus PCNX2 VGNC VGNC:32639
Canis familiaris PCNX2 VGNC VGNC:44313
Rattus norvegicus PCNX2 RGD RGD:1305883
Macaca mulatta PCNX2 VGNC VGNC:100027