TMEM260 - transmembrane protein 260 Gene

Homo sapiens

Also known as SHDRA; C14orf101

Gene ID: 54916 | Gene type: protein coding

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	Reference	Source
enables dolichyl-phosphate-mannose-protein mannosyltransferase activity	IDA IDA: Inferred from direct assay	37186866	GOA

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

Cellular Component GO Annotation	Evidence	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14714	TMEM260 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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