2. Gene
  3. MCF2L - MCF.2 cell line derived transforming sequence like Gene

MCF2L - MCF.2 cell line derived transforming sequence like Gene

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

中文名称：MCF.2 细胞系衍生的转化序列

种属: Homo sapiens

同用名: DBS; OST; ARHGEF14

基因 ID: 23263 | 基因类型: protein coding

关于 MCF2L

Cytogenetic location: 13q34 Genomic coordinates (GRCh38): 13:112,894,335-113,099,742 (from NCBI)

This gene has 33 transcripts (splice variants), 263 orthologues and 22 paralogues. Ubiquitous expression in fat (RPKM 8.1), brain (RPKM 8.0) and 22 other tissues.

功能概要

该基因编码鸟嘌呤核苷酸交换因子，该因子与 GTP 结合的 Rac1 特异性相互作用，并在 Rho/Rac 信号通路中发挥作用。该基因的一个变体与骨关节炎有关。可变剪接导致多个转录本变体。[RefSeq 提供，2016 年 3 月]

This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

MCF2L 基因产物(8)

mRNA Protein Name
NM_001112732.3 NP_001106203.2 guanine nucleotide exchange factor DBS isoform a
NM_001320815.2 NP_001307744.1 guanine nucleotide exchange factor DBS isoform c precursor
NM_001320816.2 NP_001307745.1 guanine nucleotide exchange factor DBS isoform d
NM_001320817.2 NP_001307746.1 guanine nucleotide exchange factor DBS isoform e precursor
NM_001366644.2 NP_001353573.1 guanine nucleotide exchange factor DBS isoform f
NM_001366645.2 NP_001353574.1 guanine nucleotide exchange factor DBS isoform g
NM_001366646.2 NP_001353575.1 guanine nucleotide exchange factor DBS isoform h
NM_024979.4 NP_079255.4 guanine nucleotide exchange factor DBS isoform b precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
15157669 GOA
enables phosphatidylinositol binding IDA
IDA: 通过直接分析推断
15157669 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32814053 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of Rho protein signal transduction IDA
IDA: 通过直接分析推断
15157669 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
15157669 GOA
located in endomembrane system IDA
IDA: 通过直接分析推断
15157669 GOA
located in extrinsic component of cytoplasmic side of plasma membrane IDA
IDA: 通过直接分析推断
15157669 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

MCF2L 蛋白结构

CRAL_TRIO_2

CRAL_TRIO_2: Divergent CRAL/TRIO domain (82 - 224)

Spectrin

Spectrin: Spectrin repeat (352 - 454)

RhoGEF

RhoGEF: RhoGEF domain (635 - 810)

SH3_2

SH3_2: Variant SH3 domain (1061 - 1113)

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  • 1137 a.a.
蛋白主名 其他名称

guanine nucleotide exchange factor DBS

DBL's big sister

关联疾病

疾病名称 别名
Osteoarthritis

Osteoarthrosis

Degenerative Joint Disease

Hypertrophic Arthritis

Arthropathy

Degenerative Polyarthritis

Degenerative Arthritis

Osteoarthrosis And Allied Disorder

Arthritis, Degenerative

Oa

Osteoarthritis Deformans

Osteoarthrosis Deformans

Kashin-Beck Disease
Hypoparathyroidism, X-Linked

HYPX

X-Linked Hypoparathyroidism

Parathyroid Glands, Agenesis Of

Agenesis Of Parathyroid Glands

Hypoparathyroidism X-Linked

Hypoparathyroidism - X-Linked
Brain Small Vessel Disease 2

Porencephaly 2

BSVD2

Gould Syndrome 2

Porencephaly 2, Formerly

Poren2, Formerly

Poren2
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS08223 MCF2L Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus MCF2L VGNC VGNC:31302
Canis familiaris MCF2L VGNC VGNC:43074
Felis catus MCF2L VGNC VGNC:63411
Macaca mulatta MCF2L VGNC VGNC:106270
Rattus norvegicus MCF2L RGD RGD:619782
Mus musculus MCF2L MGD MGI:103263
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