| Nomenclature | Genomic Location |
| Symbol | Sox9 | Chromosome | Y |
| Name | SRY-box containing gene 9 | Linkage map | unknown |
| Species | Dracomimus familiaris | Genome Coordinates | ChrY: contig 5 |
| Molecular Function |
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Plays an important role in the normal skeletal development. May regulate the expression of other
genes involved in chondrogenesis by acting as a transcription factor for these genes.
Molecular Function Terms:
binding
nucleic acid binding
DNA binding
sequence-specific DNA binding
regulatory region DNA binding
protein binding
beta-catenin binding
nucleic acid binding transcription factor activity
sequence-specific DNA binding transcription factor activity
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| Human Disease Association |
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Defects in SOX9 are the cause of campomelic dysplasia (CMD1) [MIM:114290].
CMD1 is a rare, often lethal, dominantly inherited, congenital osteochondrodysplasia, associated with
male-to-female autosomal sex reversal in two-thirds of the affected karyotypic males. A disease of the
newborn characterized by congenital bowing and angulation of long bones, unusually small scapulae,
deformed pelvis and spine and a missing pair of ribs. Craniofacial defects such as cleft palate, micrognatia,
flat face and hypertelorism are common. Various defects of the ear are often evident, affecting the cochlea,
malleus incus, stapes and tympanum. Most patients die soon after birth due to respiratory distress which
has been attributed to hypoplasia of the tracheobronchial cartilage and small thoracic cage.
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1 CCCTCTCCTCCTCCTCCTCTGCCTGCCTCCCTCCCTCTCTCTCCTCGCATGAATCTCCTG
61 GACCCTTTCCTCAAGATGTCCGACGAGCAGGAGAAGGCGCTCTCGGCGGGCGCGCCCAGC
121 CCGGCCCTCTCCGACGAGGAAGCCTCTTCCTCGGGCTCGCCCTGCCCCTCGGGATCCGGC
181 TCCGACGCCGAGGGCAGCGGCAGCAGCAGCCACGGGGGCCGCCCTCCCCGCCTCGGCGAC
241 GGAGGCGCCTTCGCCAAGAGCGGCGACGCGGAGATGAAGAAGGAGGCCGGCGGCGTTGGA
301 GGCGGCGGAGGCGGCGGCGAGGAGGACAAGTTCCCCGTCTGCATCCGGGAGGCCGTCTCG
361 CAGGTGCTGAAGGGCTACGACTGGACCCTGGTGCCCATGCCCGTCCGCGTCAACGGCGCC
421 AGCAAGAACAAGCCCCACGTCAAGCGGCCCATGAACGCCTTCATGGTCTGGGCCCAGGCC
481 GCCCGGAGAAGCTGGCCGGACCAGTACCCGCACCTCCACAACGCCGAGCTCAGCAAGACC
541 CTGGGCAAGCTCTGGAGGTTATTAAACGAGAGTGAGAAACGTCCTTTTGTCGAAGAGGCT
601 GAGCGGCTGAGGGTGCAGCATAAAAAGGACCATCCAGACTACAAATACCAGCCCCGAAGG
661 AGAAAGTCGGTCAAGAACGGGCAGGCTGAGCAGGAGGAAGGCTCTGAGCAAACCCACATC
721 TCTCCTAACGCTATCTTCAAGGCCTTGCAGGCAGATTCGCCCCAGTCTTCTTCCAGCATG
781 AGTGAAGTGCATTCCCCCGGAGAACATTCTGCAATAGGGCAGTCTCAAGGGCCTCCTACT
841 CCTCCCACCACCCCTAAAACTGACGTCCAGACTGGGAAGCAGGACCTCAAGCGGGAAGGC
901 CGCCCACTGCAAGAAGGGGGCAGGCAGCCACCTCACATCGACTTCCGTGATGTGGACATT
961 GGCGAACTCAGCAGTGACGTCATCTCCAACATTGAGACCTTTGATGTCAACGAGTTTGAC
1021 CAGTACCTCCCACCCAATGGCCATCCAGGTGTCCCAGCCACCCATGGTCAGCCTGGACAA
1081 GTCACCTACACTGGCAGTTATGGGATCAGCAGCACGACCGCAACTCCCACTGGTCCTGGG
1141 CATGTCTGGATGTCCAAGCAGCCACCCACACAGCAGCCGCCCCCATCCTCACAGCCGCCA
1201 CCGTCCCAAGCTCAGCAACCTCCACAGCCACAGGCCCATACGCTGACCACTCTGAGCAGC
1261 GAGCCAGGGCAGCCTCCACAGCAGAGGACACACATCAAGACCGAACAGCTCAGCCCCAGC
1321 CATTACAGTGAGCAGCAGCAGCATTCCCCCCAACAGATGAGCTACAGCTCCTTCAACCTC
1381 CAGCACTATGGCTCCTCCTACCCCACCATCACGCGCTCACAGTATGACTACACAGACCAT
1441 CAGAGCTCCAATTCCTACTACAGCCATGCCGCCAGTCAGGGCTCCGGCCTCTACTCCACC
1501 TTCACGTACATGAACCCCACCCAGCGGCCCATGTACACACCCATTGCAGACACTACTGGG
1561 GTGCCATCCATCCCCCAAACCCACAGCCCCCAGCACTGGGAACAGCCAGTCTATACCCAG
1621 CTCACCAGGCCCTGA
| Predicted Protein Product |
PSPPPPLPASLPLSPRMNLLDPFLKMSDEQEKALSAGAPSPALSDEEASSSGSPCPSGSG
SDAEGSGSSSHGGRPPRLGDGGAFAKSGDAEMKKEAGGVGGGGGGGEEDKFPVCIREAVS
QVLKGYDWTLVPMPVRVNGASKNKPHVKRPMNAFMVWAQAARRSWPDQYPHLHNAELSKT
LGKLWRLLNESEKRPFVEEAERLRVQHKKDHPDYKYQPRRRKSVKNGQAEQEEGSEQTHI
SPNAIFKALQADSPQSSSSMSEVHSPGEHSAIGQSQGPPTPPTTPKTDVQTGKQDLKREG
RPLQEGGRQPPHIDFRDVDIGELSSDVISNIETFDVNEFDQYLPPNGHPGVPATHGQPGQ
VTYTGSYGISSTTATPTGPGHVWMSKQPPTQQPPPSSQPPPSQAQQPPQPQAHTLTTLSS
EPGQPPQQRTHIKTEQLSPSHYSEQQQHSPQQMSYSSFNLQHYGSSYPTITRSQYDYTDH
QSSNSYYSHAASQGSGLYSTFTYMNPTQRPMYTPIADTTGVPSIPQTHSPQHWEQPVYTQ
LTRP
| Protein Alignment to Mouse |
tr|Q571J2|Q571J2_MOUSE MKIAA4243 protein (Fragment) OS=Mus musculus GN=Sox9
PE=2 SV=1
MGI:107543 Sox17 SRY-box containing gene 17 (Chr 1)
Length = 565
Score = 1732 (614.8 bits), Expect = 1.9e-185, Sum P(2) = 1.9e-185
Identities = 350/474 (73%), Positives = 359/474 (75%)
Query: 84 FAKSGDAEMKKEAXXXXXXXXXXEEDKFPVCIREAVSQVLKGYDWTLVPMPVRVNGASKN 143
F K G+ ++KKE+ EEDKFPVCIREAVSQVLKGYDWTLVPMPVRVNG+SKN
Sbjct: 111 FPK-GEPDLKKES----------EEDKFPVCIREAVSQVLKGYDWTLVPMPVRVNGSSKN 159
Query: 144 KPHVKRPMNAFMVWAQAARRSWPDQYPHLHNAELSKTLGKLWRLLNESEKRPFVEEAERL 203
KPHVKRPMNAFMVWAQAARR DQYPHLHNAELSKTLGKLWRLLNESEKRPFVEEAERL
Sbjct: 160 KPHVKRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESEKRPFVEEAERL 219
Query: 204 RVQHKKDHPDYKYQPRRRKSVKNGQAEQEEGSEQTHISPNAIFKALQADXXXXXXXXXXX 263
RVQHKKDHPDYKYQPRRRKSVKNGQAE EE +EQTHISPNAIFKALQAD
Sbjct: 220 RVQHKKDHPDYKYQPRRRKSVKNGQAEAEEATEQTHISPNAIFKALQADSPHSSSGMSEV 279
Query: 264 XXPGEHSAIGQSQGXXXXXXXXKTDVQTGKQDLKREGRPLQEGGRQPPHIDFRDVDIGEL 323
PGEHS GQSQG KTDVQ GK DLKREGRPL EGGRQPP IDFRDVDIGEL
Sbjct: 280 HSPGEHS--GQSQGPPTPPTTPKTDVQAGKVDLKREGRPLAEGGRQPP-IDFRDVDIGEL 336
Query: 324 SSDVISNIETFDVNEFDQYLPPNGHPGVPATHGQPGQVXXXXXXXXXXXXXXPTGPGHVW 383
SSDVISNIETFDVNEFDQYLPPNGHPGVPATHGQ V P GHVW
Sbjct: 337 SSDVISNIETFDVNEFDQYLPPNGHPGVPATHGQ---VTYTGSYGISSTAPTPATAGHVW 393
Query: 384 MSKXXX-------------XXXXXXXXXXXXXXXXXXXXXXAHTLTTLSSEPGQPPQQRT 430
MSK AHTLTTLSSEPGQ QRT
Sbjct: 394 MSKQQAPPPPPQQPPQAPQAPQAPPQQQAPPQQPQAPQQQQAHTLTTLSSEPGQ--SQRT 451
Query: 431 HIKTEQLSPSHYSEQQQHSPQQMSYSSFNLQHYGSSYPTITRSQYDYTDHQSSNSYYSHA 490
HIKTEQLSPSHYSEQQQHSPQQ+SYS FNL HY SYP ITRSQYDY DHQ+S SYYSHA
Sbjct: 452 HIKTEQLSPSHYSEQQQHSPQQISYSPFNLPHYSPSYPPITRSQYDYADHQNSGSYYSHA 511
Query: 491 ASQGSGLYSTFTYMNPTQRPMYTPIADTTGVPSIPQTHSPQHWEQPVYTQLTRP 544
A QGSGLYSTFTYMNP QRPMYTPIADT+GVPSIPQTHSPQHWEQPVYTQLTRP
Sbjct: 512 AGQGSGLYSTFTYMNPAQRPMYTPIADTSGVPSIPQTHSPQHWEQPVYTQLTRP 565
Score = 82 (33.9 bits), Expect = 1.9e-185, Sum P(2) = 1.9e-185
Identities = 15/17 (88%), Positives = 17/17 (100%)
Query: 16 RMNLLDPFLKMSDEQEK 32
RMNLLDPF+KM+DEQEK
Sbjct: 58 RMNLLDPFMKMTDEQEK 74
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