Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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80320
|
Gene name
Gene Name - the full gene name approved by the HGNC.
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Sp6 transcription factor |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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SP6 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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AI1K, EPFN, EPIPROFIN, KLF14 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
AI1K |
Chromosome
Chromosome number
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17 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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17q21.32 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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SP6 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequenc |
UniProt ID |
Q3SY56
|
Protein name |
Transcription factor Sp6 (Krueppel-like factor 14) |
Protein function |
Promotes cell proliferation (By similarity). Plays a role in tooth germ growth (By similarity). Plays a role in the control of enamel mineralization. Binds the AMBN promoter (PubMed:32167558). {ECO:0000250|UniProtKB:Q9ESX2, ECO:0000269|PubMed:32 |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00096
|
zf-C2H2 |
254 → 278 |
Zinc finger, C2H2 type |
Domain |
PF00096
|
zf-C2H2 |
284 → 308 |
Zinc finger, C2H2 type |
Domain |
PF00096
|
zf-C2H2 |
314 → 336 |
Zinc finger, C2H2 type |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Ubiquitous. |
Sequence |
MLTAVCGSLGSQHTEAPHASPPRLDLQPLQTYQGHTSPEAGDYPSPLQPGELQSLPLGPE VDFSQGYELPGASSRVTCEDLESDSPLAPGPFSKLLQPDMSHHYESWFRPTHPGAEDGSW WDLHPGTSWMDLPHTQGALTSPGHPGALQAGLGGYVGDHQLCAPPPHPHAHHLLPAAGGQ HLLGPPDGAKALEVAAPESQGLDSSLDGAARPKGSRRSVPRSSGQTVCRCPNCLEAERLG APCGPDGGKKKHLHNCHIPGCGKAYAKTSHLKAHLRWHSGDRPFVCNWLFCGKRFTRSDE LQRHLQTHTGTKKFPCAVCSRVFMRSDHLAKHMKTHEGAKEEAAGAASGEGKAGGAVEPP GGKGKREAEGSVAPSN
|
|
Sequence length |
376 |
Interactions |
View interactions
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Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Alzheimer disease |
Alzheimer`s Disease |
rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 View all (65 more) |
23535033 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Amelogenesis imperfecta |
amelogenesis imperfecta, IIa 1K |
|
|
GenCC |
Prostate cancer |
Prostate cancer |
Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. |
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GWAS, CBGDA |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Alzheimer Disease |
Associate
|
28480579 |
Amelogenesis Imperfecta |
Associate
|
32167558, 33652941 |
Amelogenesis imperfecta local hypoplastic form |
Associate
|
32167558, 33652941 |
Calcinosis Cutis |
Associate
|
23199169 |
Cognition Disorders |
Associate
|
28480579 |
Disease |
Associate
|
32167558 |
Personality Disorders |
Associate
|
34012061 |
Prostatic Neoplasms |
Associate
|
34012061 |
Schizophrenia |
Associate
|
28480579 |
|