TMEM92 (transmembrane protein 92)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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162461 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Transmembrane protein 92 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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TMEM92 |
SynonymsGene synonyms aliases
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- |
ChromosomeChromosome number
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17 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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17q21.33 |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs730882247 |
A>G |
Likely-pathogenic |
Intron variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q6UXU6 |
Protein name |
Transmembrane protein 92 |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF11669 |
WBP-1 |
32 → 141 |
WW domain-binding protein 1 |
Family |
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Sequence |
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Sequence length |
159 |
Interactions |
View interactions |
Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Developmental delay |
Global developmental delay |
rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 |
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Hydrocephalus |
Hydrocephalus |
rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Cerebellar atrophy |
Cerebellar atrophy |
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