2. Gene
  3. TMTC2 - transmembrane O-mannosyltransferase targeting cadherins 2 Gene

TMTC2 - transmembrane O-mannosyltransferase targeting cadherins 2 Gene

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

中文名称：靶向钙粘蛋白 2 的跨膜 O-甘露糖基转移酶

种属: Homo sapiens

同用名: IBDBP1

基因 ID: 160335 | 基因类型: protein coding

关于 TMTC2

Cytogenetic location: 12q21.31 Genomic coordinates (GRCh38): 12:82,686,906-83,134,866 (from NCBI)

This gene has 5 transcripts (splice variants), 288 orthologues and 14 paralogues. Ubiquitous expression in brain (RPKM 7.5), gall bladder (RPKM 7.0) and 24 other tissues.

功能概要

由该基因编码的蛋白质是定位于内质网 (ER) 的完整膜蛋白。编码的蛋白质包含许多四肽重复序列，这些序列已知参与蛋白质-蛋白质相互作用。这种蛋白质结合钙摄取泵 SERCA2B 和结合碳水化合物的伴侣蛋白钙连接蛋白，它似乎在 ER 的钙稳态中发挥作用。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2016 年 2 月]

The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

TMTC2 基因产物(3)

mRNA Protein Name
NM_001320321.2 NP_001307250.1 protein O-mannosyl-transferase TMTC2 isoform 2
NM_001320322.2 NP_001307251.1 protein O-mannosyl-transferase TMTC2 isoform 3 precursor
NM_152588.3 NP_689801.1 protein O-mannosyl-transferase TMTC2 isoform 1 precursor

TMTC2 蛋白结构

PMT_2

PMT_2: Dolichyl-phosphate-mannose-protein mannosyltransferase (71 - 214)

DUF1736

DUF1736: Domain of unknown function (DUF1736) (245 - 321)

TPR_11

TPR_11: TPR repeat (492 - 554)

TPR_12

TPR_12: Tetratricopeptide repeat (558 - 634)

TPR_2

TPR_2: Tetratricopeptide repeat (679 - 709)

TPR_11

TPR_11: TPR repeat (749 - 810)

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

protein O-mannosyl-transferase TMTC2

transmembrane and TPR repeat-containing protein 2

关联疾病

疾病名称 别名
Epilepsy, Familial Temporal Lobe, 5

Familial Temporal Lobe Epilepsy 5

ETL5

Epilepsy, Temporal Lobe, Familial, Type 5
Arteritic Anterior Ischemic Optic Neuropathy
Auditory Neuropathy, Autosomal Dominant 1

Autosomal Dominant Auditory Neuropathy 1

AUNA1

Nsdan

Auditory Neuropathy, Autosomal Dominant, 1

Auditory Neuropathy, Nonsyndromic Dominant

Nonsyndromic Dominant Auditory Neuropathy

Nonsyndromic Auditory Neuropathy Autosomal Dominant
Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E

Primary Open Angle Glaucoma

POAG

Adult-Onset Primary Open Angle Glaucoma

Chronic Simple Glaucoma

GLC1E

Primary Open Angle Glaucoma 1e

Glaucoma, Open Angle, Primary
Glaucoma, Normal Tension

Low Tension Glaucoma

Glaucoma, Normal Tension, Susceptibility To

Normal Tension Glaucoma

Ntg

Glaucoma, Normal Pressure

NPG

Glaucoma, Normal Pressure, Susceptibility To

Poag/Npg - [Normal Pressure Primary Open-Angle Glaucoma]
Periventricular Nodular Heterotopia

Periventricular Heterotopia

Pvnh

Familial Nodular Heterotopia

Heterotopia, Periventricular

Periventricular Heterotopia, X-Linked
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-RS14777 TMTC2 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 TMTC2 VGNC VGNC:58451
Mus musculus TMTC2 MGD MGI:1914057
Canis familiaris TMTC2 VGNC VGNC:47639
Macaca mulatta TMTC2 VGNC VGNC:79495
Rattus norvegicus TMTC2 RGD RGD:1309848
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z