1. Gene
  2. C16orf54 - chromosome 16 open reading frame 54 Gene

C16orf54 - chromosome 16 open reading frame 54 Gene

中文名称:16 号染色体开放阅读框 54

种属: Homo sapiens

基因 ID: 283897 | 基因类型: protein coding

关于 C16orf54

This gene has 1 transcript (splice variant) and 70 orthologues. Biased expression in bone marrow (RPKM 12.2), lymph node (RPKM 8.7) and 11 other tissues.

功能概要

预计是膜的组成部分。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

C16orf54 基因产物(1)

mRNA Protein Name
NM_175900.4 NP_787096.2 transmembrane protein C16orf54
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
32296183 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
蛋白主名 其他名称

transmembrane protein C16orf54

C16orf54 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
Intra C16orf54 Q6UWD8 RPRM Homo sapiens Q9NS64
Validated Y2H
32296183
Intra C16orf54 Q6UWD8 LPAR3 Homo sapiens Q9UBY5
Validated Y2H
32296183
Intra C16orf54 Q6UWD8 ANKRD46 Homo sapiens Q86W74-2
Validated Y2H
32296183
Intra C16orf54 Q6UWD8 SEC22A Homo sapiens Q96IW7
Validated Y2H
32296183
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
Spondylocostal Dysostosis 5

Spondylothoracic Dysostosis

SCDO5

Jarcho-Levin Syndrome

Scoliosis, Congenital, With Or Without Rib Anomalies

Tacs

Spondylocostal Dysplasia

Costovertebral Segmentation Anomalies

Spondylocostal Dysostosis 1

Spondylocostal Dysostosis

Spondylothoracic Dysplasia

Scdo1

Spondylocostal Dysostosis 1 Autosomal Recessive

Costovertebral Dysplasia

Scdo

Std

Autosomal Dominant Spondylocostal Dysostosis

Autosomal Dominant Spondylocostal Dysplasia

Doid:0112363

Spondylocostal Dysostosis 4, Autosomal Dominant

Spondyloepimetaphyseal Dysplasia With Joint Laxity

Dysplasia, Spondyloepimetaphyseal, With Joint Laxity

Semdjl

Spondyloepimetaphyseal Dysplasia Joint Laxity

Semd-Jl

Semdjl1

Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1

Spondyloepimetaphyseal Dysplasia With Joint Laxity, Beighton Type

Episodic Kinesigenic Dyskinesia 1

Paroxysmal Kinesigenic Choreoathetosis

Paroxysmal Kinesigenic Dyskinesia

Dystonia 10

Familial Paroxysmal Kinesigenic Dyskinesia

Episodic Kinesigenic Dyskinesia

EKD1

Pkc

Pkd

Dyt10

Familial Pkd

Paroxysmal Kinesigenic Choreathetosis

Familial Paroxysmal Dystonia

Dystonia, Familial Paroxysmal

Dyt-Prrt2

Dystonia, Type 10

Chromosome 16p11.2 Deletion Syndrome

Distal 16p11.2 Microdeletion Syndrome

16p11.2 Deletion Syndrome

Del(16)(P11.2)

Microdeletion 16p11.2

Monosomy 16p11.2

Autism, Susceptibility To, 14a

Auts14a

Distal Del(16)(P11.2)

Distal Monosomy 16p11.2

Benign Familial Infantile Epilepsy

Benign Familial Infantile Seizures

Bfie

Benign Familial Infantile Convulsion

Bfic

Bfis

Benign Familial Infantile Convulsions

Familial Benign Neonatal Epilepsy

Watanabe-Vigevano Syndrome

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 C16orf54 VGNC VGNC:60732
Canis familiaris C16orf54 VGNC VGNC:58295
Macaca mulatta C16orf54 VGNC VGNC:70402
Bos taurus C16orf54 VGNC VGNC:52686
Rattus norvegicus C16orf54 RGD RGD:1564503
Mus musculus C16orf54 MGD MGI:2141979