Fbrillar collagen family |
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COL2A1 |
12q13.11-q13.2 |
P02458 |
Extracellular matrix structural constituent, Structural constituent of bone, Phosphate transport, Cell adhesion, Skeletal development, Perception of sound. |
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COL3A1 |
2q31 |
P02461 |
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COL5A2 |
2q14-q32 |
Q7KZ55 |
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COL1A2 |
7q22.1 |
P08123 |
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COL1A1 |
17q21.33 |
P02452 |
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ERBB receptor protein-tyrosine kinase |
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ERBB2 |
17q21.1 |
Q96RT1 |
Epidermal growth factor receptor activity, Protein serine/threonine kinase activity, Electron transporter activity, Cell proliferation, ATP binding. |
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EGFR |
7p12 |
P00533 |
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ERBB4 |
2q33.3-q34 |
Q15303 |
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ERBB3 |
12q13 |
P21860 |
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Insulin-like growth factor-binding protein |
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IGFBP4 |
17q12-q21.1 |
P22692 |
Regulation of cell growth, Signal transduction, Skeletal development Cell proliferation. |
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IGFBP1 |
7p13-p12 |
P08833 |
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IGFBP2 |
2q33-q34 |
P18065 |
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IGFBP6 |
12q13 |
P24592 |
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IGFBP3 |
7p13-p12 |
P17936 |
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IGFBP5 |
2q33-q36 |
P24593 |
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Integrin beta chain family |
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ITGB3 |
17q21.32 |
P05106 |
Receptor activity, Cell-matrix adhesion, Integrin-mediated signaling pathway. |
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ITGB5 |
3q21.2 |
P18084 |
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ITGB6 |
2q24.2 |
P18564 |
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ITGB7 |
12q13.13 |
P26010 |
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ITGB4 |
17q25 |
P16144 |
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ITGB8 |
7p15.3 |
P26012 |
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Myosin light chain |
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MYL4 |
17q21-qter |
P12829 |
Phosphoprotein phosphatase activity, Structural constituent of muscle, Muscle development, Microfilament motor activity. |
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MYL6 |
12q13.2 |
P60660 |
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MYL1 |
2q33-q34 |
P06741 |
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MYL7 |
7p21-p11.2 |
Q01449 |
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MYL2 |
12q23-q24.3 |
P10916 |
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Sp1 c2h2-type zinc-finger protein family |
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SP1 |
12q13.1 |
P08047 |
RNA polymerase II transcription factor activity. |
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SP2 |
17q21.32 |
Q02086 |
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SP3 |
2q31 |
Q02447 |
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SP4 |
7p15 |
Q02446 |
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SP8 |
7p21.2 |
Q8IXZ3 |
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Zinc finger protein, subfamily 1A |
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ZNFN1A1 |
7p13-p11.1 |
Q13422 |
DNA-dependent regulation of transcription, Specification and the maturation of the lymphocyte. |
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ZNFN1A2 |
2qter |
Q9UKS7 |
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ZNFN1A3 |
17q21 |
Q9UKT9 |
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ZNFN1A4 |
12q13 |
Q96JP3 |
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Anion exchanger family SLC4A (AE) |
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SLC4A1 |
17q21-q22 |
P02730 |
Inorganic anion exchanger activity, Bicarbonate transport, Chloride transport. |
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SLC4A2 |
7q35-q36 |
P04920 |
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SLC4A3 |
2q36 |
P48751 |
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SLC4A5 |
2p13 |
Q14203 |
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SLC4A8 |
12q13 |
O95233 |
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SLC4A10 |
2q23-q24 |
Q9HCQ6 |
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GLI zinc-finger protein family |
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GLI1 |
12q13.2-q13.3 |
P08151 |
Regulation of transcription from RNA polymerase II promoter, Morphogenesis of limb and brain. |
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GLI2 |
2q14 |
P10070 |
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GLI3 |
7p13 |
P10071 |
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Hedgehog family |
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SHH |
7q36 |
Q15465 |
Mesodermal cell fate determination, Proteolysis and peptidolysis, Cell-cell signaling, Intein-mediated protein splicing. |
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DHH |
12q12-q13.1 |
O43323 |
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IHH |
2q33-q35 |
Q14623 |
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Inhibin |
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INHBA |
7p15-p13 |
P08476 |
Cytokine activity, Growth factor activity, Induction of apoptosis, Mesoderm development, Defense response. |
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INHBB |
2cen-q13 |
P09529 |
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INHBC |
12q13.1 |
P55103 |
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INHBE |
12q13.3 |
P58166 |
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