C16orf54 - chromosome 16 open reading frame 54 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 283897

About 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.

Summary

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

C16orf54 Products (1)

mRNA Protein Name
NM_175900.4 NP_787096.2 transmembrane protein C16orf54

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

transmembrane protein C16orf54

C16orf54 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01701 C16orf54 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others C16orf54 NCBI