2. Gene
  3. CCDC141 - coiled-coil domain containing 141 Gene

CCDC141 - coiled-coil domain containing 141 Gene

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

中文名称：含卷曲螺旋结构域 141

种属: Homo sapiens

同用名: CAMDI

基因 ID: 285025 | 基因类型: protein coding

关于 CCDC141

Cytogenetic location: 2q31.2 Genomic coordinates (GRCh38): 2:178,814,978-179,050,137 (from NCBI)

This gene has 6 transcripts (splice variants), 195 orthologues, 9 paralogues and is associated with 2 phenotypes. Biased expression in heart (RPKM 4.9), lung (RPKM 0.5) and 4 other tissues.

功能概要

预计参与轴突导向和细胞粘附。预计在中心体定位和大脑皮层径向定向细胞迁移的上游或内部起作用。预计位于中心体；细胞质；和质膜。预计在神经元投射中活跃。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to be involved in axon guidance and cell adhesion. Predicted to act upstream of or within centrosome localization and cerebral cortex radially oriented cell migration. Predicted to be located in centrosome; cytoplasm; and plasma membrane. Predicted to be active in neuron projection. [provided by Alliance of Genome Resources, Apr 2022]

CCDC141 基因产物(2)

mRNA Protein Name
NM_001316745.2 NP_001303674.1 coiled-coil domain-containing protein 141 isoform 2
NM_173648.4 NP_775919.3 coiled-coil domain-containing protein 141 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
12812986 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

CCDC141 蛋白结构

Spectrin

Spectrin: Spectrin repeat (52 - 127)

I-set

I-set: Immunoglobulin I-set domain (1409 - 1498)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1530 a.a.
蛋白主名 其他名称

coiled-coil domain-containing protein 141

coiled-coil protein associated with myosin II and DISC1

CCDC141 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
CCDC141 Q6ZP82 DISC1 Homo sapiens Q9NRI5
Y2H
12812986
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Kallmann Syndrome

Hypogonadism With Anosmia

Kallman'S Syndrome

Anosmic Hypogonadism

Anosmic Idiopathic Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism And Anosmia

Hypogonadotropic Hypogonadism-Anosmia Syndrome

Olfacto-Genital Pathological Sequence

Familial Hypogonadism With Anosmia

Kallman Syndrome

Dysplasia Olfactogenitalis Of De Morsier

Kallmann'S Syndrome

Congenital Hypogonadotropic Hypogonadism With Anosmia
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia

Idiopathic Hypogonadotropic Hypogonadism

HH7

Hypogonadism, Isolated Hypogonadotropic

Ihh

Hypogonadism, Isolated, Hypogonadotropic

Hypogonadotropic Hypogonadism

Isolated Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism 7 Without Anosmia

Congenital Hypogonadotropic Hypogonadism Normosmic

Hh

Klinefelter Syndrome

Isolated Gonadotropin Deficiency
Third-Degree Atrioventricular Block

Third Degree Atrioventricular Block

Complete Atrioventricular Block

Complete Av Block

Third-Degree Block

Complete Atrioventricular Heart Block

Complete Heart Block

Third Degree Atrioventricular Heart Block

Third Degree Heart Block

Complete Heart Block Nos

Chb - [Complete Heart Block]

Idioventricular Rhythm

Av - [Atrioventricular] Block, Complete
Waardenburg Syndrome, Type 4c

Waardenburg Syndrome Type 4c

WS4C

Waardenburg Syndrome Type Ivc

Waardenburg Syndrome With Hirschsprung Disease Type 4c

Waardenburg Syndrome With Hirschsprung Disease, Type 4c

Waardenburg Syndrome, Type Ivc

Waardenburg Syndrome 4c

Hirschsprung Disease With Pigmentary Anomaly

Shah-Waardenburg Syndrome

Waardenburg-Shah Syndrome

Waardenburg Syndrome, Type 4a
Waardenburg Syndrome, Type 4a

Waardenburg-Shah Syndrome

Shah-Waardenburg Syndrome

Waardenburg Syndrome Type 4a

WS4A

Ws4

Waardenburg Syndrome Type 4

Waardenburg Syndrome Type Iva

Waardenburg Syndrome With Hirschsprung Disease Type 4a

Hirschsprung Disease With Pigmentary Anomaly

Waardenburg-Hirschsprung Syndrome

Waardenburg Syndrome, Type Iva

Waardenburg Syndrome With Hirschsprung Disease, Type 4a

Waardenburg-Hirschsprung Disease

Waardenburg Syndrome, Type 4

Waardenburg Syndrome 4a
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-RS02031 CCDC141 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 CCDC141 VGNC VGNC:26852
Rattus norvegicus CCDC141 RGD RGD:1593250
Mus musculus CCDC141 MGD MGI:1919735
Canis familiaris CCDC141 VGNC VGNC:38796
Felis catus CCDC141 VGNC VGNC:80159
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