1. Gene
  2. FARP2 - FERM, ARH/RhoGEF and pleckstrin domain protein 2 Gene

FARP2 - FERM, ARH/RhoGEF and pleckstrin domain protein 2 Gene

中文名称:FERM、ARH/RhoGEF 和 pleckstrin 域蛋白 2

种属: Homo sapiens

同用名: FIR; FRG; PLEKHC3

基因 ID: 9855 | 基因类型: protein coding

关于 FARP2

Cytogenetic location: 2q37.3 Genomic coordinates (GRCh38): 2:241,356,285-241,494,841 (from NCBI)

This gene has 23 transcripts (splice variants), 215 orthologues and 10 paralogues. Ubiquitous expression in testis (RPKM 7.0), skin (RPKM 5.6) and 25 other tissues.

功能概要

启用胍基核苷酸交换因子活性。在 Rac 蛋白信号转导和神经元重塑的上游或内部起作用。位于细胞质中。 [由基因组资源联盟提供,2022 年 4 月]

Enables guanyl-nucleotide exchange factor activity. Acts upstream of or within Rac protein signal transduction and neuron remodeling. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

FARP2 基因产物(3)

mRNA Protein Name
NM_001282983.2 NP_001269912.1 FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform b
NM_001282984.2 NP_001269913.1 FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform c
NM_014808.4 NP_055623.1 FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform a
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
12351724 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within Rac protein signal transduction IDA
IDA: 通过直接分析推断
12351724 GOA
acts upstream of or within neuron remodeling IDA
IDA: 通过直接分析推断
12351724 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
12351724 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

FARP2 蛋白结构

FERM_N

FERM_N: FERM N-terminal domain (48 - 125)

FERM_M

FERM_M: FERM central domain (127 - 234)

FERM_C

FERM_C: FERM C-terminal PH-like domain (238 - 327)

FA

FA: FERM adjacent (FA) (333 - 377)

RhoGEF

RhoGEF: RhoGEF domain (539 - 722)

PH

PH: PH domain (757 - 851)

PH

PH: PH domain (932 - 1025)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1054 a.a.
蛋白主名 其他名称

FERM, ARHGEF and pleckstrin domain-containing protein 2

FERM domain including RhoGEF

关联疾病

疾病名称 别名
Chromosome 2q37 Deletion Syndrome

Albright Hereditary Osteodystrophy-Like Syndrome

2q37 Microdeletion Syndrome

Brachydactyly-Intellectual Disability Syndrome

Deletion 2q37

2q37 Deletion Syndrome

Brachydactyly-Mental Retardation Syndrome

Bdmr

Albright Hereditary Osteodystrophy Type 3

Del(2)(Q37)

Monosomy 2q37qter

Albright'S Hereditary Osteodystrophy-Like Syndrome

Monosomy 2q37

Chromosome Deletion Syndrome 2q37

Aarskog-Scott Syndrome

Aarskog Syndrome

Faciogenital Dysplasia

Faciodigitogenital Syndrome

AAS

Fgdy

X-Linked Aarskog Syndrome

Intellectual Developmental Disorder, X-Linked, Syndromic 16

Aarskog Syndrome, X-Linked

Intellectual Developmental Disorder, X-Linked Syndromic 16

Greig'S Syndrome

Aarskog Scott Syndrome

Aarskog Disease

Scott Aarskog Syndrome

Facio-Digito-Genital Dysplasia

Faciogenital Dysplasia With Attention Deficit-Hyperactivity Disorder

Aarskog-Scott Syndrome ) Syndrome

Parkinson Disease 6, Autosomal Recessive Early-Onset

Autosomal Recessive Early-Onset Parkinson Disease 6

Parkinson Disease 6

PARK6

Parkinson Disease 6, Early Onset

Parkinson'S Disease 6

Parkinson Disease 6, Early-Onset

Autosomal Recessive Early-Onset Parkinson'S Disease 6

Early-Onset Parkinson Disease 6

Autosomal Recessive Early-Onset Parkinson Disease Type 6

Parkinson Disease 6 Early-Onset

Parkinson Disease 6 Late-Onset Susceptibility To

Parkinson Disease Autosomal Recessive Early-Onset Digenic Pink1/Dj1

Parkinsonism Young Adult Onset

Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1

Parkinson Disease, Type 6, Autosomal Recessive, Early-Onset

Pathologic Nystagmus

Nystagmus

Congenital Nystagmus

Nystagmus, Congenital

Nystagmus Congenital

Hermansky-Pudlak Syndrome 1

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

HPS1

Delta Storage Pool Disease

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

Hermansky-Pudlak Syndrome, Type 1

Platelet Storage Pool Deficiency

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
Felis catus FARP2 VGNC VGNC:62150
Canis familiaris FARP2 VGNC VGNC:40731
Macaca mulatta FARP2 VGNC VGNC:72513
Rattus norvegicus FARP2 RGD RGD:1308003
Mus musculus FARP2 MGD MGI:2385126
Bos taurus FARP2 VGNC VGNC:55172