2. Gene
  3. RHBDL2 - rhomboid like 2 Gene

RHBDL2 - rhomboid like 2 Gene

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

中文名称：菱形样 2

种属: Homo sapiens

同用名: RRP2

基因 ID: 54933 | 基因类型: protein coding

关于 RHBDL2

Cytogenetic location: 1p34.3 Genomic coordinates (GRCh38): 1:38,885,807-38,941,830 (from NCBI)

This gene has 3 transcripts (splice variants), 196 orthologues and 5 paralogues. Biased expression in colon (RPKM 9.9), skin (RPKM 6.4) and 10 other tissues.

功能概要

由该基因编码的蛋白质是整合膜蛋白菱形家族的成员。该家族包含与果蝇菱形蛋白相关的蛋白质。该家族的成员存在于原核生物和真核生物中，并被认为具有膜内丝氨酸蛋白酶的功能。编码的蛋白质被认为通过某些膜结合底物 (包括肝配蛋白 B2 和肝配蛋白 B3) 的蛋白水解裂解释放可溶性生长因子。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供，2015 年 2 月]

The protein encoded by this gene is a member of the rhomboid family of integral membrane proteins. This family contains proteins that are related to Drosophila rhomboid protein. Members of this family are found in both prokaryotes and eukaryotes and are thought to function as intramembrane serine proteases. The encoded protein is thought to release soluble growth factors by proteolytic cleavage of certain membrane-bound substrates, including Ephrin B2 and ephrin B3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]

RHBDL2 基因产物(2)

mRNA Protein Name
NM_001304746.2 NP_001291675.1 rhomboid-related protein 2 isoform 1
NM_017821.5 NP_060291.2 rhomboid-related protein 2 isoform 2
基因本体论
  • 分子功能
  • 细胞组分
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
enables serine-type endopeptidase activity IDA
IDA: 通过直接分析推断
19850051 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
19850051 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

RHBDL2 蛋白结构

Rhomboid

Rhomboid: Rhomboid family (115 - 266)

  • 0
  • 100
  • 200
  • 303 a.a.
蛋白主名 其他名称

rhomboid-related protein 2

rhomboid (veinlet, Drosophila)-like 2

关联疾病

疾病名称 别名
Benign Mammary Dysplasia
Nipah Virus Encephalitis

Equine Morbillivirus
Hypomagnesemia 3, Renal

HOMG3

Renal Hypomagnesemia 3

Fhhnc Without Severe Ocular Involvement

Renal Hypomagnesemia Type 3

Hypomagnesemia, Primary, Due To Defect In Renal Tubular Transport Of Magnesium

Hypomagnesemia, Isolated Renal

Hypomagnesemia, Familial, With Hypercalciuria And Nephrocalcinosis

Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Without Severe Ocular Involvement

Isolated Renal Hypomagnesemia

Primary Hypomagnesemia Due To Defect In Renal Tubular Transport Of Magnesium

Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Without Severe Ocular Involvement

Hypomagnesemia 3

Familial Hypomagnesemia With Hypercalciuria And Nephrocalcinosis

Fhhnc

Hhn

Renal Hypomagnesemia Hypercalciuria Nephrocalcinosis

Hypomagnesemia, Type 3, Renal

Primary Hypomagnesemia
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11936 RHBDL2 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS21185 Rhbdl2 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS27701 Rhbdl2 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus RHBDL2 VGNC VGNC:33936
Felis catus RHBDL2 VGNC VGNC:64606
Canis familiaris RHBDL2 VGNC VGNC:45549
Mus musculus RHBDL2 MGD MGI:3608413
Rattus norvegicus RHBDL2 RGD RGD:1308295
Macaca mulatta RHBDL2 VGNC VGNC:76741
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