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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 nameGene Name - the full gene name approved by the HGNC.
Transmembrane protein 260
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TMEM260
SynonymsGene synonyms aliases
C14orf101, SHDRA
ChromosomeChromosome number
14
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q22.3
SNPsSNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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
GO ID Ontology Definition Evidence Reference
GO:0016021 Component Integral component of membrane IEA
Other IDsOther 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
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
Sequence 
MSPHGDGRGQAQGRAVRVGLRRSGGIRGGVAVFAAVAAVFTFTLPPSVPGGDSGELITAA
HELGVAHPPGYPLFTLVAKLAITLFPFGSIAYRVNLLCGLFGAVAASLLFFTVFRLSGSS
AGGILAAGVFSFSRLTWQWSIAAEVFSLNNLFVGLLMALTVHFEEAATAKERSKVAKIGA
FCCGLSLCNQHTIILYVLCIIPWILFQLLKKKELSLGSLLKLSLYFSAGLLPYVHLPISS
YLNHARWTWGDQTTLQGFLTHFLREEYGTFSLAKSEIGSSMSEILLSQVTNMRTELSFNI
QALAVCANICLATKDRQNPSLVWLFTGMFCIYSLFFAWRANLDISKPLFMGVVERFWMQS
NAVVAVLAGIGLAAVVSETNRVLNSNGLQCLEWLSATLFVVYQIYSNYSVCDQRTNYVID
KFAKNLLTSMPHDAIILLRGDLPGNSLRYMHYCEGLRPDISLVDQEMMTYEWYLPKMAKH
LPGVNFPGNRWNPVEGILPSGMVTFNLYHFLEVNKQKETFVCIGIHEGDPTWKKNYSLWP
WGSCDKLVPLEIVFNPEEWIKLTKSIYNWTEEYGRFDPSSWESVANEEMWQARMKTPFFI
FNLAETAHMPSKVKAQLYAQAYDLYKEIVYLQKEHPVNWHKNYAIACERMLRLQARDADP
EVLLSETIRHFRLYSQKAPNDPQQADILGALKHLRKELQSLRNRKNV
Sequence length 707
Interactions View interactions
Associated diseases
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601 27903959
Persistent truncus arteriosus Truncus Arteriosus, Persistent rs267606914, rs1598737972, rs387906813
Renal insufficiency Renal Insufficiency rs1596536873
Structural heart defects and renal anomalies syndrome STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME rs201956469, rs1085307449
Unknown
Disease name Disease term dbSNP ID References
Partial agenesis of corpus callosum Partial agenesis of corpus callosum

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