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| Gene Model: Slc26a2 |
| Nomenclature | Genomic Location | ||
| Symbol | Slc26a2 | Chromosome | X |
| Name | Sulfate transporter Slc26a2 | Linkage map | unknown |
| Species | Dracomimus familiaris | Genome Coordinates | X: 68 Mbp |
| Molecular Function |
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Sulfate transporter. May play a role in endochondral bone formation. Molecular Function Terms: transporter activity
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| Human Disease Association |
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Defects in SLC26A2 are the cause of diastrophic dysplasia (DTD) [MIM:222600]. DTD is an autosomal recessive disease characterized by osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities. Defects in SLC26A2 are the cause of achondrogenesis type 1B (ACG1B) [MIM:600972]. ACG1B is a recessively inherited chondrodysplasia characterized by extremely poor skeletal development and perinatal death. Defects in SLC26A2 are the cause of atelosteogenesis type 2 (AO2) [MIM:256050]; also known as neonatal osseous dysplasia 1. AO2 is characterized by severely shortened limbs, small chest, scoliosis, club foot of the equinovarus type (talipes equinovarus), abducted thumbs and great toes, and cleft palate. Patients die of respiratory insufficiency shortly after birth because of the collapse of the airways and pulmonary hypoplasia due to the small rib cage. Defects in SLC26A2 are the cause of multiple epiphyseal dysplasia type 4 (EDM4) [MIM:226900]. EDM is a generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDM is broadly categorized into the more severe Fairbank and the milder Ribbing types. EDM4 is a recessively inherited form, characterized by early childhood-onset hip dysplasia and recurrent patella dislocation. Short stature in EDM4 patients is not frequent. |
| Predicted Transcript |
1 TTTGAGTTGGCCGAAGTACATGATGGCGAACGAAATCACCATCCTAGGATCATCTTGGAA
61 CCCATAGACAAAAGGACAGATATCAAGGCATGGATAGTGAAGAAAGTGAAGAAAAAATGC
121 AGCTGCACCCCAGCTATAGCCAAAGACTTGGTCTTCAGTTTTCTCCCAGTGCTGAAGTGG
181 CTCCCCAAATACAATGTGAAAGAAGACCTCTTGGGAGATCTGATGTCTGGTCTGATTGTG
241 GGGATCTTACTGGTCCCACAATCCATTGCCTATTCCCTTTTGGCTGGCCAAGAACCCATC
301 TATGGTCTCTACACATCTTTTTTTGCAAGCATCATATATTTCCTCTTTGGAACCTCACGT
361 CACATCTCTGTTGGCATTTTTGGTGTACTCTGTCTGATGATAGGAGAAGTAGTAGACCGT
421 GAAGTACAGAAAGCTGGCTATGATTTAGACATACATGTTTACATTAATAGCAGCAGCACA
481 ATGGGGCCTCTAAATATGAACCAAACATCACAAACATTTTGTGACAAAAGTTGCTATGCA
541 ATTATTGTTGGAAGCACAGTGACATTTATGGCTGGGATTTACCAGATTGCCATGGGCTTT
601 TTCCAAGTGGGCTTTATCTCTGTATACCTCTCTGATTCCTTGCTCAGCGGATTTGTTACA
661 GGTGCTTCCTTCACTATCCTTACCTCACAAGCCAAATACCTGTTGGGTCTAGATATTCCT
721 CGGAGCAATGGCATTGGTTCCTTTATAACTACATGGATAAACATATTCAAAAACATCCAC
781 AAAACCAACTTCTGTGACCTTATCACCAGTTTCCTGTGCTTACTTGTTCTTATCCCAACT
841 AAAGAATTGAATGAACGGTACAAATCCAAACTTAAGGCTCCCTTGCCCACAGAGCTGTTT
901 GTGGTTATAGTAGCTACATTGGTATCACATTTTGGGAAACTGAAAGAAAAATATGGCTCC
961 AGTGTTTCTGGACACATCCCAACAGGGTTTCTGCCACCACAACCACCAGACTGGGGTCTC
1021 ATTCCAAGCATAGCTTTGGATGCAGTGGCCATAGCCATTATTGGCTTTGCTATCACTGTG
1081 TCTCTTTCTGAAATGTTTGCCAAGAAGCATGGCTACACAGTGAAACCCAACCAAGAAATG
1141 TATGCCATTGGTTTCTGCAACATCATCCCTTCATTTTTTCACTGCATCACAACTAGCGCA
1201 GCCCTTGCCAAGACCCTTGTCAAAGAGTCAACGGGCTGTAGGACTCAGGTATCTGGAGTG
1261 GTGACTGCCTTGGTCATCTTGTTAGTCCTCCTTGTCATTGCTCCCCTCTTCTACTCCCTC
1321 CAGAAATGTGTGCTAGGGGTCATAACGATTGTCAATCTCAGAGGAGCCTTGAGAAAGTTT
1381 GGTGACCTGCCAAAAATGTGGCAATTAGGTAAAGTGGACACAGTGATCTGGACTATCACT
1441 ATGTTGTCTTCAGCACTGATAAGTACTGAACTTGGTCTTTTGATTGGGGTCTGCTTTTCA
1501 CTGCTGTGCGTTGTTTTGCGGACTCAGAGACCAGAAGGACAACTACTGGGCTGGGTGCCA
1561 GATTCTGAAATCTATGAACCTCTTCCTGCCTACAAGGACCTTCAGACTAAGCCCAGCATC
1621 AAAGTTTTCCGGTTTGAGGCACCCATCTATTACGCCAATAAAGAAAGTTTTAAGTCCATG
1681 CTCTACAAACAGACTGGCGTAAATCCTGTGTGGGAGCTAGCAGCAAAGAGGAAGACAGAA
1741 AAGCGAACAAAGAAAACAGCCAGTGCCAATGGAAACCAGGCTGAGGTTTCAGTACAGCTT
1801 TTCACTCAGGACTTTGAGTTCCATACTATTGTGATTGACTGCTGTGCAGTGCATTTCTTA
1861 GATACAGCAGGGATCCACACACTGAAAGAAATCCACAAGGATTATGAAGAAATCGGCATC
1921 CAGGTGCTACTGGCTCAGTGCAATCCCTCTGTGAGGGATTCCCTTCACCGAGGGGAGTAT
1981 ATAAAAAAAGGGGAGAAGAAATTCCTCTTCCATAGTGTGCACCAGGCTGTGGAATATGCG
2041 CTGTGTTCTTCTAAGCAGAATGGGTGCTGTGCTCCTGAAGGCCAGTGTAAGGGAAAAGAT
| Predicted Protein Product |
FELAEVHDGERNHHPRIILEPIDKRTDIKAWIVKKVKKKCSCTPAIAKDLVFSFLPVLKW LPKYNVKEDLLGDLMSGLIVGILLVPQSIAYSLLAGQEPIYGLYTSFFASIIYFLFGTSR HISVGIFGVLCLMIGEVVDREVQKAGYDLDIHVYINSSSTMGPLNMNQTSQTFCDKSCYA IIVGSTVTFMAGIYQIAMGFFQVGFISVYLSDSLLSGFVTGASFTILTSQAKYLLGLDIP RSNGIGSFITTWINIFKNIHKTNFCDLITSFLCLLVLIPTKELNERYKSKLKAPLPTELF VVIVATLVSHFGKLKEKYGSSVSGHIPTGFLPPQPPDWGLIPSIALDAVAIAIIGFAITV SLSEMFAKKHGYTVKPNQEMYAIGFCNIIPSFFHCITTSAALAKTLVKESTGCRTQVSGV VTALVILLVLLVIAPLFYSLQKCVLGVITIVNLRGALRKFGDLPKMWQLGKVDTVIWTIT MLSSALISTELGLLIGVCFSLLCVVLRTQRPEGQLLGWVPDSEIYEPLPAYKDLQTKPSI KVFRFEAPIYYANKESFKSMLYKQTGVNPVWELAAKRKTEKRTKKTASANGNQAEVSVQL FTQDFEFHTIVIDCCAVHFLDTAGIHTLKEIHKDYEEIGIQVLLAQCNPSVRDSLHRGEY IKKGEKKFLFHSVHQAVEYALCSSKQNGCCAPEGQCKGKD
| Protein Alignment to Mouse |
sp|Q62273|S26A2_MOUSE Sulfate transporter OS=Mus musculus GN=Slc26a2 PE=1 SV=1
MGI:892977 Slc26a2 solute carrier family 26 (sulfate transporter), member 2 (Chr 18)
Length = 739
Score = 2348 (831.6 bits), Expect = 2.3e-244, P = 2.3e-244
Identities = 460/694 (66%), Positives = 538/694 (77%)
Query: 4 AEVHDGERNHHPRIILEPIDKR-TDIKAWIXXXXXXXCSCTPAIAKDLVFSFLPVLKWLP 62
+E G R RI +E +K TDIK ++ C C+ A +D F F PVL+WLP
Sbjct: 42 SETGHGRRAFR-RIHMELREKPDTDIKQFVIRELQKSCQCSAAKVRDGAFDFFPVLRWLP 100
Query: 63 KYNVKEDLLGDLMSGLIVGILLVPQSIAYSLLAGQEPIYGLYTSFFASIIYFLFGTSRHI 122
KY++K+++LGD+MSGLIVGILLVPQSIAYSLLAGQEPIYGLYTSFFASIIYFLFGTSRHI
Sbjct: 101 KYDLKKNILGDVMSGLIVGILLVPQSIAYSLLAGQEPIYGLYTSFFASIIYFLFGTSRHI 160
Query: 123 SVGIFGVLCLMIGEVVDREVQKAGYDLDIHVYINSSSTMGPLNMNQTSQTFCDKSCYAII 182
SVGIFG+LCLMIGEVVDRE+ KA D D + + G + +N T CDKSCYAI
Sbjct: 161 SVGIFGILCLMIGEVVDRELHKACPDTDATSSSIAVFSSGCVVVNHTLDGLCDKSCYAIK 220
Query: 183 VGSTVTFMAGIYQIAMGFFQVGFISVYLSDSLLSGFVTGASFTILTSQAKYLLGLDIPRS 242
+GSTVTFMAG+YQ+AMGFFQVGF+SVYLSD+LLSGFVTGASFTILTSQAKYLLGL +PRS
Sbjct: 221 IGSTVTFMAGVYQVAMGFFQVGFVSVYLSDALLSGFVTGASFTILTSQAKYLLGLSLPRS 280
Query: 243 NGIGSFITTWINIFKNIHKTNFCDLITSFLCLLVLIPTKELNERYKSKLKAPLPTELFVV 302
+G+GS ITTWI+IF+NI TN CDLITS LCLLVL+P+KELNE +K KLKAP+P EL VV
Sbjct: 281 HGVGSVITTWIHIFRNIRNTNICDLITSLLCLLVLVPSKELNEHFKDKLKAPIPVELIVV 340
Query: 303 IVATLVSHFGKLKEKYGSSVSGHIPTGFLPPQPPDWGLIPSIALDAVAIAIIGFAITVSL 362
+ ATL SHFGKL Y SS++GHIPTGF+PP+ PDW LIP++A+DA+AI+IIGFAITVSL
Sbjct: 341 VAATLASHFGKLNGNYNSSIAGHIPTGFMPPKAPDWSLIPNVAVDAIAISIIGFAITVSL 400
Query: 363 SEMFAKKHGYTVKPNQEMYAIGFCNIIPSFFHCITTSAALAKTLVKESTGCRTQVSGXXX 422
SEMFAKKHGYTVK NQEMYAIGFCNIIPSFFHCITTSAALAKTLVKESTGC+TQ+S
Sbjct: 401 SEMFAKKHGYTVKANQEMYAIGFCNIIPSFFHCITTSAALAKTLVKESTGCQTQLSAIVT 460
Query: 423 XXXXXXXXXXXXPLFYSLQKCVLGVITIVNLRGALRKFGDLPKMWQLGKVDTVIWTITML 482
PLFYSLQKCVLGVITIVNLRGAL KF DLPKMW+L ++DTVIW +TML
Sbjct: 461 ALVLLLVLLVIAPLFYSLQKCVLGVITIVNLRGALLKFRDLPKMWRLSRMDTVIWFVTML 520
Query: 483 SSALISTELGLLIGVCFSLLCVVLRTQRPEGQLLGWVPDSEIYEPLPAYKDLQTKPSIKV 542
SSAL+STE+GLL+GVCFS+ CV+LRTQ+P+ LLG +SE +E + YK+L++K IKV
Sbjct: 521 SSALLSTEIGLLVGVCFSMFCVILRTQKPKNSLLGLEEESETFESISTYKNLRSKSGIKV 580
Query: 543 FRFEAPIYYANKESFKSMLYKQTGVNPVWELXX--XXXXXXXXXXXXSANGNQAEVSVQL 600
FRF AP+YY NKE FKS LYK+ +NPV + G+ EVS+QL
Sbjct: 581 FRFIAPLYYINKECFKSALYKKA-LNPVLVKAAWKKAAKRKLKEEMVTFRGDPDEVSMQL 639
Query: 601 FTQDFEFHTIVIDCCAVHFLDTAGIHTLKEIHKDYEEIGIQVLLAQCNPSVRDSLHRGEY 660
E HTIVIDC A+ FLDTAGIHTLKE+ +DYE +GIQVLLAQCNPSVRDSL RGEY
Sbjct: 640 SHDPLEVHTIVIDCSAIQFLDTAGIHTLKEVRRDYEAVGIQVLLAQCNPSVRDSLARGEY 699
Query: 661 IKKGEKKFLFHSVHQAVEYALCSSKQNGCCAPEG 694
KK E+ LF+S+ +AV +A S Q G C G
Sbjct: 700 CKKEEETLLFYSLSEAVAFAEDSQNQKGVCVVNG 733