1. Gene
  2. FOCAD - focadhesin Gene

FOCAD - focadhesin Gene

中文名称:焦点粘附素

种属: Homo sapiens

同用名: SCOLIV; KIAA1797

基因 ID: 54914 | 基因类型: protein coding

关于 FOCAD

Cytogenetic location: 9p21.3 Genomic coordinates (GRCh38): 9:20,655,625-20,995,950 (from NCBI)

This gene has 16 transcripts (splice variants) and 198 orthologues. Ubiquitous expression in thyroid (RPKM 11.9), adrenal (RPKM 7.1) and 25 other tissues.

功能概要

位于粘着斑。 [由基因组资源联盟提供,2022 年 4 月]

Located in focal adhesion. [provided by Alliance of Genome Resources, Apr 2022]

FOCAD 基因产物(4)

mRNA Protein Name
NM_001375567.1 NP_001362496.1 focadhesin isoform 1
NM_001375568.1 NP_001362497.1 focadhesin isoform 2
NM_001375570.1 NP_001362499.1 focadhesin isoform 3
NM_017794.5 NP_060264.4 focadhesin isoform 1
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
22427331 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in focal adhesion IDA
IDA: 通过直接分析推断
22427331 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

FOCAD 蛋白结构

DUF3730

DUF3730: Protein of unknown function (DUF3730) (24 - 250)

DUF3730

DUF3730: Protein of unknown function (DUF3730) (489 - 709)

Focadhesin

Focadhesin: Focadhesin (1213 - 1801)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1801 a.a.
蛋白主名 其他名称

focadhesin

关联疾病

疾病名称 别名
Liver Disease, Severe Congenital

SCOLIV

Focad Deficiency

Immunodeficiency 30

Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12rb1 Deficiency

IMD30

Il12rb1 Deficiency

Mendelian Susceptibility To Interleukin 12 Receptor Beta 1 Deficiency

Msmd Due To Complete Il12rb1 Deficiency

Msmd Due To Complete Interleukin 12 Receptor Beta 1 Deficiency

Il-12râ1 Deficiency

Mendelian Susceptibility To Mycobacterial Infections Due To Il12 Deficiency

Immunodeficiency, Type 30

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
Macaca mulatta FOCAD VGNC VGNC:72556
Rattus norvegicus FOCAD RGD RGD:1311849
Mus musculus FOCAD MGD MGI:2676921
Bos taurus FOCAD VGNC VGNC:29071
Canis familiaris FOCAD VGNC VGNC:40938
Felis catus FOCAD VGNC VGNC:62328