1. Gene
  2. DAAM2 - dishevelled associated activator of morphogenesis 2 Gene

DAAM2 - dishevelled associated activator of morphogenesis 2 Gene

中文名称:形态发生紊乱相关激活因子 2

种属: Homo sapiens

同用名: NPHS24; dJ90A20A.1

基因 ID: 23500 | 基因类型: protein coding

关于 DAAM2

Cytogenetic location: 6p21.2 Genomic coordinates (GRCh38): 6:39,792,376-39,904,869 (from NCBI)

This gene has 11 transcripts (splice variants), 200 orthologues, 18 paralogues and is associated with 2 phenotypes. Broad expression in brain (RPKM 23.5), esophagus (RPKM 10.9) and 20 other tissues.

功能概要

预测启用肌动蛋白结合活性和小 GTPase 结合活性。预计参与神经系统发育和 Wnt 信号通路的调控。预计在确定左/右对称性的上游或内部起作用。位于细胞外外泌体。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable actin binding activity and small GTPase binding activity. Predicted to be involved in nervous system development and regulation of Wnt signaling pathway. Predicted to act upstream of or within determination of left/right symmetry. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]

DAAM2 基因产物(2)

mRNA Protein Name
NM_001201427.2 NP_001188356.1 disheveled-associated activator of morphogenesis 2 isoform 1
NM_015345.4 NP_056160.2 disheveled-associated activator of morphogenesis 2 isoform 2
基因本体论
  • 分子功能
  • 生物过程
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
33232676 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in podocyte cell migration IDA
IDA: 通过直接分析推断
33232676 GOA
involved in positive regulation of cell migration IMP
IMP: 通过突变表型推断
24223803 GOA
involved in regulation of actin cytoskeleton organization IMP
IMP: 通过突变表型推断
24223803 GOA
involved in regulation of actin filament polymerization IDA
IDA: 通过直接分析推断
33232676 GOA
involved in regulation of filopodium assembly IDA
IDA: 通过直接分析推断
33232676 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

DAAM2 蛋白结构

Drf_GBD

Drf_GBD: Diaphanous GTPase-binding Domain (43 - 228)

Drf_FH3

Drf_FH3: Diaphanous FH3 Domain (231 - 436)

FH2

FH2: Formin Homology 2 Domain (596 - 969)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1068 a.a.
蛋白主名 其他名称

disheveled-associated activator of morphogenesis 2

关联疾病

疾病名称 别名
Nephrotic Syndrome, Type 24

NPHS24

Idiopathic Steroid-Resistant Nephrotic Syndrome

Idiopathic Srns

Nephrotic Syndrome 24

Nephrotic Syndrome, Idiopathic, Steroid-Resistant

Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive

Genetic Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Genetic Srns

Hereditary Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Nephrotic Syndrome

Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive

Srn1

Guillain-Barre Syndrome

Guillain-Barré Syndrome

Acute Inflammatory Polyneuropathy

Gbs

Acute Inflammatory Demyelinating Polyneuropathy

Acute Inflammatory Demyelinating Polyradiculoneuropathy

Acute Infective Polyneuritis

Acute Inflammatory Demyelinating Polyradiculopathy

Acute Postinfectious Polyneuropathy

Infectious Neuronitis

Post-Infectious Polyneuritis

Postinfectious Polyneuritis

Acute Autoimmune Peripheral Neuropathy

Acute Immune-Mediated Polyneuropathy

Acute Inflammatory Neuropathy

Guillain-Barré-Strohl Syndrome

Landry'S Ascending Paralysis

Landry-Guillain-Barre-Strohl Syndrome

Post-Infective Polyneuritis

Acute Infectious Polyneuritis

Fisher Syndrome

Landry-Guillain-Barre Syndrome

Guillain-Barre-Strohl Syndrome

Variant Of Guillain-Barre Syndrome

Variant Of Gbs

Aidp

Acute Idiopathic Demyelinating Polyneuropathy

Gbs, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form

Guillain-Barre Syndrome, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form

Miller Fisher Syndrome

Cerebral Amyloid Angiopathy, Itm2b-Related, 2

Dementia, Familial Danish

Fdd

Familial Danish Dementia

Heredopathia Ophthalmootoencephalica

Hooe

Cerebellar Ataxia, Cataract, Deafness, And Dementia Or Psychosis

Adan Amyloidosis

Itm2b-Related Cerebral Amyloid Angiopathy 2

Itm2b Amyloidosis

Familial Cerebral Amyloid Angiopathy

Itm2b-Related Amyloidosis

Itm2b-Related Cerebral Amyloid Angiopathy

Familial Dementia, Danish Type

Cerebral Amyloid Angiopathy, Itm2b-Related 2

CAA-ITM2B2

Cerebellar Ataxia Cataract Deafness And Dementia Or Psychosis

Dementia, Familial, Danish

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis

Apolipoprotein C-Iii Deficiency

Hyperalphalipoproteinemia 2

HALP2

Malignant Breast Melanoma

Malignant Melanoma Of Breast

Breast Melanoma

Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified

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
Bos taurus DAAM2 VGNC VGNC:27863
Mus musculus DAAM2 MGD MGI:1923691
Felis catus DAAM2 VGNC VGNC:61327
Macaca mulatta DAAM2 VGNC VGNC:71658
Rattus norvegicus DAAM2 RGD RGD:1306128
Canis familiaris DAAM2 VGNC VGNC:39757