Q9BQY4
PR
Gene name |
RHOXF2 |
Protein name |
Rhox homeobox family member 2 |
Names |
Paired-like homeobox protein PEPP-2, Testis homeobox gene 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84528 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9BQY4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BQY4-F1 | Predicted | AlphaFoldDB |
33 variants for Q9BQY4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 31 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1309289784 | 63 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs782004016 | 68 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148604152 VAR_078297 |
68 | G>R | found in infertile men; unknown pathological significance; decreased induction of target genes expression [UniProt] | No |
UniProt dbSNP |
| TCGA novel | 70 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 72 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 72 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 76 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1199754261 | 79 | D>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs782207635 | 80 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1481913478 | 81 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs150161751 | 99 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs376075919 | 101 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs782319401 | 108 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs782095156 | 111 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs781986581 | 111 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 114 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs781886657 | 120 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 121 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 122 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 123 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs782294784 | 127 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 129 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs782250177 | 129 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs782304633 | 133 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs782413530 | 148 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 150 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 153 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs370729029 | 155 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs782023002 | 156 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199871532 VAR_078298 |
176 | L>F | found in infertile men; unknown pathological significance [UniProt] | No |
UniProt dbSNP |
|
VAR_078299 rs1210761967 |
227 | G>R | Variant assessed as Somatic; 0.0 impact. found in infertile men; unknown pathological significance; decreased induction of target genes expression [NCI-TCGA, UniProt] | No |
UniProt dbSNP NCI-TCGA |
|
rs6646602 VAR_078300 |
235 | D>G | found in infertile men; unknown pathological significance [UniProt] | No |
UniProt dbSNP |
No associated diseases with Q9BQY4
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| identical protein binding | Binding to an identical protein or proteins. |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II. |
| sequence-specific double-stranded DNA binding | Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
22 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A0JNI8 | LHX9 | LIM/homeobox protein Lhx9 | Bos taurus (Bovine) | PR |
| Q90881 | LHX9 | LIM/homeobox protein Lhx9 | Gallus gallus (Chicken) | PR |
| F1NEA7 | DMBX1 | Diencephalon/mesencephalon homeobox protein 1 | Gallus gallus (Chicken) | PR |
| Q90963 | PRRX2 | Paired mesoderm homeobox protein 2 | Gallus gallus (Chicken) | PR |
| Q8IRC7 | Awh | LIM/homeobox protein Awh | Drosophila melanogaster (Fruit fly) | PR |
| Q9NQ69 | LHX9 | LIM/homeobox protein Lhx9 | Homo sapiens (Human) | PR |
| Q99811 | PRRX2 | Paired mesoderm homeobox protein 2 | Homo sapiens (Human) | PR |
| P50458 | LHX2 | LIM/homeobox protein Lhx2 | Homo sapiens (Human) | PR |
| O15266 | SHOX | Short stature homeobox protein | Homo sapiens (Human) | PR |
| O95076 | ALX3 | Homeobox protein aristaless-like 3 | Homo sapiens (Human) | PR |
| Q8NHV9 | RHOXF1 | Rhox homeobox family member 1 | Homo sapiens (Human) | PR |
| O14813 | PHOX2A | Paired mesoderm homeobox protein 2A | Homo sapiens (Human) | PR |
| P63013 | Prrx1 | Paired mesoderm homeobox protein 1 | Mus musculus (Mouse) | PR |
| Q8VIH1 | Nobox | Homeobox protein NOBOX | Mus musculus (Mouse) | PR |
| Q06348 | Prrx2 | Paired mesoderm homeobox protein 2 | Mus musculus (Mouse) | PR |
| O88933 | Esx1 | Extraembryonic, spermatogenesis, homeobox 1 (Homeobox protein SPX1) (Homeodomain protein EPX) | Mus musculus (Mouse) | EV |
| Q9WUH2 | Lhx9 | LIM/homeobox protein Lhx9 | Mus musculus (Mouse) | PR |
| Q80W90 | Lhx9 | LIM/homeobox protein Lhx9 | Rattus norvegicus (Rat) | PR |
| P36198 | Lhx2 | LIM/homeobox protein Lhx2 | Rattus norvegicus (Rat) | PR |
| Q28G02 | siamois | Homeobox protein siamois | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q566X8 | dmbx1b | Diencephalon/mesencephalon homeobox protein 1-B | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q1LWV4 | lhx9 | LIM/homeobox protein Lhx9 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEPPDQCSQY | MTSLLSPAVD | DEKELQDMNA | MVLSLTEEVK | EEEEDAQPEP | EQGTAAGEKL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KSAGAQGGEE | KDGGGEEKDG | GGAGVPGHLW | EGDLEGTSGS | DGNVEDSDQS | EKEPGQQYSR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PQGAVGGLEP | GNAQQPNVHA | FTPLQLQELE | RIFQREQFPS | EFLRRRLARS | MNVTELAVQI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| WFENRRAKWR | RHQRALMARN | MLPFMAVGQP | VMVTAAEAIT | APLFISGMRD | DYFWDHSHSS |
| 250 | 260 | 270 | 280 | ||
| SLCFPMPPFP | PPSLPLPLML | LPPMPPAGQA | EFGPFPFVIV | PSFTFPNV |