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

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
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

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