TMEM260 - transmembrane protein 260 Gene

Also Known as SHDRA; C14orf101

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54916

About TMEM260

Cytogenetic location: 14q22.3 Genomic coordinates (GRCh38): 14:56,579,525-56,663,165 (from NCBI)

This gene has 16 transcripts (splice variants), 210 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 3.9), ovary (RPKM 3.6) and 25 other tissues.

Summary

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

TMEM260 Products (1)

mRNA	Protein	Name
NM_017799.4	NP_060269.3	transmembrane protein 260

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables dolichyl-phosphate-mannose-protein mannosyltransferase activity	IDA IDA: Inferred from direct assay	37186866	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in protein maturation	IDA IDA: Inferred from direct assay	37186866	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	37186866	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

TMEM260 Protein Structure

DUF2723

0
200
400
600
707 a.a.

Protein Preferred Names	Protein Names
transmembrane protein 260	UPF0679 protein C14orf101

Related Diseases

Diseases	Alias
Structural Heart Defects And Renal Anomalies Syndrome	SHDRA Heart Defects, Structural, And Renal Anomalies Syndrome
Joubert Syndrome 23	JBTS23 Joubert Syndrome, Type 23
Agnathia-Otocephaly Complex	Otocephaly Holoprosencephaly-Agnathia Dysgnathia Complex Agnathia-Holoprosencephaly AGOTC Agnathia-Holoprosencephaly-Situs Inversus Syndrome Dysgnathia Complex Agnathia-Holoprosencephaly Cervical Auricle
Microphthalmia, Syndromic 5	MCOPS5 Syndromic Microphthalmia Type 5 Retinal Dystrophy, Early-Onset, With Or Without Pituitary Dysfunction Syndromic Microphthalmia 5 Syndromic Microphthalmia/Anophthalmia Due To Otx2 Mutation Microphthalmia Syndromic 5 Otx2-Related Eye Disorders Microphthalmia, Syndromic, 5 RDEOP Microphthalmia, Syndromic, Type 5
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

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-RS14714	TMEM260 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TMEM260	VGNC	VGNC:47563
Mus musculus	TMEM260	MGD	MGI:2443219
Felis catus	TMEM260	VGNC	VGNC:80818
Rattus norvegicus	TMEM260	RGD	RGD:1562018
Bos taurus	TMEM260	VGNC	VGNC:36069
Others	TMEM260	NCBI