DSPP (dentin sialophosphoprotein)
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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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1834 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Dentin sialophosphoprotein |
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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DSPP |
SynonymsGene synonyms aliases
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DFNA39, DGI1, DMP3, DPP, DSP |
ChromosomeChromosome number
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4 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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4q22.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the small integrin-binding ligand N-linked glycoprotein (SIBLING) family of proteins. The encoded preproprotein is secreted by odontoblasts and proteolytically processed to generate two principal proteins of the dentin extrac |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs121912985 |
C>A,T |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
rs121912986 |
C>A,T |
Pathogenic |
Missense variant, coding sequence variant |
rs121912987 |
G>T |
Pathogenic |
Missense variant, coding sequence variant |
rs121912988 |
T>G |
Pathogenic |
Missense variant, coding sequence variant |
rs121912989 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs201110163 |
G>A,C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
rs1057521972 |
G>C |
Likely-pathogenic |
Splice acceptor variant |
rs1395922945 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1553904372 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1553904404 |
->C |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1553904512 |
->CAGCG |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1560477489 |
G>A |
Pathogenic |
Splice donor variant |
rs1560478758 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1560480632 |
C>- |
Pathogenic |
Frameshift variant, coding sequence 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 |
Q9NZW4 |
Protein name |
Dentin sialophosphoprotein [Cleaved into: Dentin phosphoprotein (Dentin phosphophoryn) (DPP); Dentin sialoprotein (DSP)] |
Protein function |
DSP may be an important factor in dentinogenesis. DPP may bind high amount of calcium and facilitate initial mineralization of dentin matrix collagen as well as regulate the size and shape of the crystals. |
Family and domains |
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Sequence |
MKIITYFCIWAVAWAIPVPQSKPLERHVEKSMNLHLLARSNVSVQDELNASGTIKESGVL VHEGDRGRQENTQDGHKGEGNGSKWAEVGGKSFSTYSTLANEEGNIEGWNGDTGKAETYG HDGIHGKEENITANGIQGQVSIIDNAGATNRSNTNGNTDKNTQNGDVGDAGHNEDVAVVQ EDGPQVAGSNNSTDNEDEIIENSCRNEGNTSEITPQINSKRNGTKEAEVTPGTGEDAGLD NSDGSPSGNGADEDEDEGSGDDEDEEAGNGKDSSNNSKGQEGQDHGKEDDHDSSIGQNSD SKEYYDPEGKEDPHNEVDGDKTSKSEENSAGIPEDNGSQRIEDTQKLNHRESKRVENRIT KESETHAVGKSQDKGIEIKGPSSGNRNITKEVGKGNEGKEDKGQHGMILGKGNVKTQGEV VNIEGPGQKSEPGNKVGHSNTGSDSNSDGYDSYDFDDKSMQGDDPNSSDESNGNDDANSE SDNNSSSRGDASYNSDESKDNGNGSDSKGAEDDDSDSTSDTNNSDSNGNGNNGNDDNDKS DSGKGKSDSSDSDSSDSSNSSDSSDSSDSDSSDSNSSSDSDSSDSDSSDSSDSDSSDSSN SSDSSDSSDSSDSSDSSDSSDSKSDSSKSESDSSDSDSKSDSSDSNSSDSSDNSDSSDSS NSSNSSDSSDSSDSSDSSSSSDSSNSSDSSDSSDSSNSSESSDSSDSSDSDSSDSSDSSN SNSSDSDSSNSSDSSDSSNSSDSSDSSDSSNSSDSSDSSDSSNSSDSSDSSDSSDSSDSS NSSDSNDSSNSSDSSDSSNSSDSSNSSDSSDSSDSSDSDSSNSSDSSNSSDSSDSSNSSD SSDSSDSSDGSDSDSSNRSDSSNSSDSSDSSDSSNSSDSSDSSDSNESSNSSDSSDSSNS SDSDSSDSSNSSDSSDSSNSSDSSESSNSSDNSNSSDSSNSSDSSDSSDSSNSSDSSNSS DSSNSSDSSDSNSSDSSDSSNSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSSDSSNSSD SSNSSDSSNSSDSSDSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSSDSSDSSDSSDSSD SSESSDSSDSSNSSDSSDSSDSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSSDSSDSSN SSDSSDSSESSDSSDSSDSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSSDSSDSSDSSD SSDSSDSSDSSDSSDSSDSSDSSDSSDSSDSNESSDSSDSSDSSDSSNSSDSSDSSDSSD STSDSNDESDSQSKSGNGNNNGSDSDSDSEGSDSNHSTSDD
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Sequence length |
1301 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Carcinoma |
Squamous cell carcinoma |
rs121912654, rs555607708, rs786202962, rs1564055259 |
21103065 |
Deafness with dentinogenesis imperfecta |
Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 |
rs1553904404 |
22392858, 27973701, 11175779, 9533027, 11175790 |
Deafness,nonsyndromic sensorineural, with dentinogenesis imperfecta |
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 39, WITH DENTINOGENESIS IMPERFECTA 1 |
rs121912986, rs121912987 |
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Denticles |
Dentin dyspalsia, Shields type 2 |
rs121912988, rs1560478758, rs1553904372, rs1553904512 |
26788535, 18521831, 9533027, 12354781, 27973701 |
Dentinogenesis imperfecta |
Dentinogenesis Imperfecta, Dentinogenesis imperfecta - Shield`s type III (disorder), Dentinogenesis imperfecta without osteogenesis imperfecta, Dentinogenesis imperfecta type 2, Dentinogenesis imperfecta type 3 |
rs121912985, rs1560477489, rs121912987, rs121912989, rs1560480632, rs67707918, rs66883877 |
11175790, 23509818, 17686168, 12721295, 18456718, 15592686, 15241678, 15690376, 9533027, 23509818, 15592686, 18521831, 27973701, 11175779, 27973701, 14758537, 9533027, 21029264, 17627120, 22392858 |
Hearing loss |
Hearing Loss, High-Frequency |
rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Dental pulp stone |
Dental Pulp Stone |
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Dentin dysplasia |
Dentin dysplasia, type 1, Dentin dysplasia type I, Dentin dysplasia type II |
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Hereditary opalescent dentin |
Hereditary Opalescent Dentin (disorder) |
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Mouth neoplasms |
Mouth Neoplasms |
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21103065 |
Malignant neoplasm of mouth |
Malignant neoplasm of mouth |
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21103065 |
Opalescent dentin |
Opalescent dentin |
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Sensorineural hearing loss |
Sensorineural hearing loss, bilateral |
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