C16orf54 - chromosome 16 open reading frame 54 Gene

Homo sapiens

Gene ID: 283897 | Gene type: protein coding

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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01701	C16orf54 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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