TMEM260 (transmembrane protein 260)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54916
Gene name Gene Name - the full gene name approved by the HGNC.
Transmembrane protein 260
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TMEM260
Synonyms (NCBI Gene) Gene synonyms aliases
C14orf101, SHDRA
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q22.3
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs201956469 C>T Pathogenic Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs568247949 AAGAA>- Likely-pathogenic Intron variant, frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
GO ID Ontology Definition Evidence Reference
GO:0004169 Function Dolichyl-phosphate-mannose-protein mannosyltransferase activity IDA 37186866
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IDA 37186866
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0016020 Component Membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617449 20185 ENSG00000070269
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9NX78
Protein name Protein O-mannosyl-transferase TMEM260 (EC 2.4.1.109) (Transmembrane protein 260)
Protein function O-mannosyl-transferase that transfers mannosyl residues to the hydroxyl group of serine or threonine residues of proteins (PubMed:37186866). Specifically glycosylates the IPT/TIG domain of target proteins, such as MET and MST1R/RON (PubMed:37186
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11028 DUF2723 52 → 215 Protein of unknown function (DUF2723) Family
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Expressed in brain, heart, kidney, liver, lung, pancreas and placenta but are not detected in skeletal muscle. {ECO:0000269|PubMed:28318500}.; TISSUE SPECIFICITY: [Isoform 3]: Expressed in brain, heart, kidney, liver, lung
Sequence 
MSPHGDGRGQAQGRAVRVGLRRSGGIRGGVAVFAAVAAVFTFTLPPSVPGGDSGELITAA
HELGVAHPPGYPLFTLVAKLAITLFPFGSIAYRVNLLCGLFGAVAASLLFFTVFRLSGSS
AGGILAAGVFSFSRLTWQWSIAAEVFSLNNLFVGLLMALTVHFEEAATAKERSKVAKIGA
FCCGLSLCNQHTIILYVLCIIPWILFQLLKKKELSLGSLLKLSLYFSAGLLPYVHLPISS
YLNHARWTWGDQTTLQGFLTHFLREEYGTFSLAKSEIGSSMSEILLSQVTNMRTELSFNI
QALAVCANICLATKDRQNPSLVWLFTGMFCIYSLFFAWRANLDISKPLFMGVVERFWMQS
NAVVAVLAGIGLAAVVSETNRVLNSNGLQCLEWLSATLFVVYQIYSNYSVCDQRTNYVID
KFAKNLLTSMPHDAIILLRGDLPGNSLRYMHYCEGLRPDISLVDQEMMTYEWYLPKMAKH
LPGVNFPGNRWNPVEGILPSGMVTFNLYHFLEVNKQKETFVCIGIHEGDPTWKKNYSLWP
WGSCDKLVPLEIVFNPEEWIKLTKSIYNWTEEYGRFDPSSWESVANEEMWQARMKTPFFI
FNLAETAHMPSKVKAQLYAQAYDLYKEIVYLQKEHPVNWHKNYAIACERMLRLQARDADP
EVLLSETIRHFRLYSQKAPNDPQQADILGALKHLRKELQSLRNRKNV
Sequence length 707
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Structural Heart Defects And Renal Anomalies Syndrome structural heart defects and renal anomalies syndrome rs201956469, rs1085307449 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Astrocytoma Pilocytic astrocytoma N/A N/A GWAS
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Fetal Alcohol Spectrum Disorders Associate 28318500
Heart Defects Congenital Associate 38351237
Microvascular Angina Associate 28318500
Truncus Arteriosus Persistent Associate 38351237