1. Gene
  2. FAM53B - family with sequence similarity 53 member B Gene

FAM53B - family with sequence similarity 53 member B Gene

中文名称:具有序列相似性的家族 53 成员 B

种属: Homo sapiens

同用名: smp; KIAA0140; bA12J10.2

基因 ID: 9679 | 基因类型: protein coding

关于 FAM53B

Cytogenetic location: 10q26.13 Genomic coordinates (GRCh38): 10:124,619,292-124,744,378 (from NCBI)

This gene has 3 transcripts (splice variants), 256 orthologues and 2 paralogues. Ubiquitous expression in lymph node (RPKM 17.7), spleen (RPKM 12.7) and 23 other tissues.

功能概要

参与经典 Wnt 信号通路的正调控。位于核内。 [由基因组资源联盟提供,2022 年 4 月]

Involved in positive regulation of canonical Wnt signaling pathway. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

FAM53B 基因产物(1)

mRNA Protein Name
NM_014661.4 NP_055476.3 protein FAM53B
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 protein binding IPI
IPI: 通过物理相互作用推断
15778465 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of canonical Wnt signaling pathway IMP
IMP: 通过突变表型推断
25183871 GOA
involved in regulation of canonical Wnt signaling pathway IMP
IMP: 通过突变表型推断
25183871 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
25183871 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

FAM53B 蛋白结构

FAM53

FAM53: Family of FAM53 (1 - 302)

  • 0
  • 100
  • 200
  • 300
  • 422 a.a.
蛋白主名 其他名称

protein FAM53B

protein simplet

FAM53B 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
FAM53B Q14153 YWHAZ Homo sapiens P63104 33961781
种属内
FAM53B Q14153 SFN Homo sapiens P31947
TAP
15778465
种属内
FAM53B Q14153 SFN Homo sapiens P31947 33961781
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
Kanzaki Disease

Alpha-N-Acetylgalactosaminidase Deficiency Type 2

Naga Deficiency Type 2

Schindler Disease, Type Ii

Adult-Onset Alpha-N-Acetylgalactosaminidase Deficiency

Schindler Disease Type 2

Alpha-N-Acetylgalactosaminidase Deficiency, Type Ii

Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset

Naga Deficiency, Type Ii

Alpha-N-Acetylgalactosaminidase Deficiency Adult Onset

KANZD

Naga Deficiency Type Ii

Schindler Disease Type Ii

Intestinal Schistosomiasis

Schistosomiasis Japonica

Schistosomiasis Mansoni

Katayama Fever

Schistosoma Japonicum Infection

Schistosoma Mansoni Infectious Disease

Schistosomiasis

Parasitic Helminthiasis Infectious Disease

Helminthiasis

Intestinal Helminthiasis

Helminth Infection

Helminthosis

Worm Infection

Worm Infections

Helminth Infections

Intestinal Infection Due To Class Cestoda And/Or Class Trematoda And/Or Phylum Nemata

Parasitic Enteritis

Metazoal Dysentery

Intestinal Worms Nos

Cocaine Dependence
Urinary Schistosomiasis

Schistosoma Haematobium Infection

Schistosoma Hematobium Infection

Schistosomiasis Due To Schistosoma Haematobium

Bladder Schistosomiasis

Cystitis With Bilharziasis

Schistosoma Haematobium

Schistosoma Hematobium Infectious Disease

Schistosomiasis Of Bladder

Vesical Schistosomiasis

Schistosomiasis Urinary

Schistosomiasis Haematobia

Genitourinary Bilharziasis

Genitourinary Tract Schistosomiasis

Schistosomiasis Due To Schistosoma Haematobium [Urinary Schistosomiasis]

Haematochyluria In Schistosomiasis

Infection Due To Schistosoma Matthei

Spinal Muscular Atrophy, Type Iv

SMA4

Spinal Muscular Atrophy, Adult Form

Spinal Muscular Atrophy 4

Spinal Muscular Atrophy-4

Adult Spinal Muscular Atrophy

Spinal Muscular Atrophy, Proximal, Adult, Autosomal Recessive

Proximal Spinal Muscular Atrophy Type 4

Sma Type 4

Sma Type Iv

Sma-Iv

Sma Iv

Spinal Muscular Atrophy Adult Form

Spinal Muscular Atrophy Proximal Adult Autosomal Recessive

Spinal Muscular Atrophy Type Iv

Atrophy, Muscular, Spinal, Type Iv

Myelopathic Muscular Atrophy

Spinal Muscular Atrophy, Type Ii

SMA2

Sma Ii

Muscular Atrophy, Spinal, Intermediate Type

Muscular Atrophy, Spinal, Infantile Chronic Form

Intermediate Spinal Muscular Atrophy

Spinal Muscular Atrophy Type Ii

Spinal Muscular Atrophy-2

Spinal Muscular Atrophy 2

Spinal Muscular Atrophy Type 2

Dubowitz Disease

Proximal Spinal Muscular Atrophy Type 2

Sma Type 2

Sma Type Ii

Sma-Ii

Spinal Muscular Atrophy Infantile Chronic Form

Spinal Muscular Atrophy Intermediate Type

Spinal Muscular Atrophies Of Childhood

Atrophy, Muscular, Spinal, Type Ii

Muscular Atrophy, Spinal, Type Ii

Frontometaphyseal Dysplasia

Fmd

Dysplasia, Frontometaphyseal

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 FAM53B VGNC VGNC:72397
Mus musculus FAM53B MGD MGI:1925188
Bos taurus FAM53B VGNC VGNC:55949
Felis catus FAM53B VGNC VGNC:62117
Rattus norvegicus FAM53B RGD RGD:1310799
Canis familiaris FAM53B VGNC VGNC:40688