Annotation Detail for GJB2
Basic Information Top
| Gene Symbol: | GJB2 ( CX26,DFNA3,DFNA3A,DFNB1,DFNB1A,HID,KID,NSRD1,PPK ) |
|---|---|
| Gene Full Name: | gap junction protein, beta 2, 26kDa |
| Band: | 13q12.11 |
| Quick Links | Entrez ID:2706; OMIM: 121011; Uniprot ID:CXB2_HUMAN; ENSEMBL ID: ENSG00000165474; HGNC ID: 4284 |
| Relate to Another Database: | SFARIGene; denovo-db |
- Unigene ID: Hs.524894
| Pool Name | Gene EST/Total EST in pool | Transcripts per million(TPM) | Bar based on TPM |
|---|---|---|---|
 | |||
| embryoid body | 0 / 70761 | 0 | |
| blastocyst | 0 / 62319 | 0 | |
| fetus | 8 / 564012 | 14 |  |
| neonate | 0 / 31097 | 0 | |
| infant | 0 / 23620 | 0 | |
| juvenile | 0 / 55556 | 0 | |
| adult | 67 / 1939121 | 34 | |
| Pool Name | Gene EST/Total EST in pool | Transcripts per million(TPM) | Bar based on TPM |
|---|---|---|---|
| |||
| adrenal tumor | 0 / 12794 | 0 | |
| bladder carcinoma | 0 / 17475 | 0 | |
| breast (mammary gland) tumor | 0 / 94178 | 0 | |
| cervical tumor | 0 / 34366 | 0 | |
| chondrosarcoma | 0 / 82823 | 0 | |
| colorectal tumor | 4 / 114246 | 35 | |
| esophageal tumor | 2 / 17290 | 115 |  |
| gastrointestinal tumor | 0 / 119369 | 0 | |
| germ cell tumor | 2 / 263845 | 7 |  |
| glioma | 1 / 106883 | 9 | |
| head and neck tumor | 40 / 136302 | 293 |  |
| kidney tumor | 0 / 68959 | 0 | |
| leukemia | 0 / 95842 | 0 | |
| liver tumor | 1 / 96359 | 10 | |
| lung tumor | 2 / 103127 | 19 | |
| lymphoma | 0 / 71755 | 0 | |
| non-neoplasia | 10 / 97250 | 102 | |
| normal | 31 / 3360307 | 9 | |
| ovarian tumor | 1 / 76682 | 13 | |
| pancreatic tumor | 5 / 104616 | 47 | |
| primitive neuroectodermal tumor of the CNS | 0 / 125680 | 0 | |
| prostate cancer | 0 / 102680 | 0 | |
| retinoblastoma | 0 / 46356 | 0 | |
| skin tumor | 10 / 124949 | 80 | |
| soft tissue/muscle tissue tumor | 1 / 125191 | 7 | |
| uterine tumor | 1 / 90257 | 11 | |
| Pool Name | Gene EST/Total EST in pool | Transcripts per million(TPM) | Bar based on TPM |
|---|---|---|---|
| |||
| adipose tissue | 0 / 13106 | 0 | |
| adrenal gland | 0 / 33197 | 0 | |
| ascites | 0 / 40015 | 0 | |
| bladder | 0 / 29757 | 0 | |
| blood | 0 / 123478 | 0 | |
| bone | 0 / 71655 | 0 | |
| bone marrow | 0 / 48801 | 0 | |
| brain | 5 / 1100989 | 4 | |
| cervix | 0 / 48171 | 0 | |
| connective tissue | 1 / 149255 | 6 | |
| ear | 4 / 16212 | 246 | |
| embryonic tissue | 0 / 215722 | 0 | |
| esophagus | 2 / 20209 | 98 | |
| eye | 9 / 211054 | 42 | |
| heart | 1 / 89626 | 11 | |
| intestine | 7 / 234472 | 29 | |
| kidney | 2 / 211777 | 9 | |
| larynx | 2 / 24145 | 82 | |
| liver | 1 / 207743 | 4 | |
| lung | 7 / 336974 | 20 | |
| lymph | 0 / 44270 | 0 | |
| lymph node | 0 / 91610 | 0 | |
| mammary gland | 0 / 153271 | 0 | |
| mouth | 10 / 67052 | 149 | |
| muscle | 1 / 107715 | 9 | |
| nerve | 0 / 15768 | 0 | |
| ovary | 1 / 102051 | 9 | |
| pancreas | 5 / 214812 | 23 | |
| parathyroid | 0 / 20539 | 0 | |
| pharynx | 29 / 41328 | 701 | |
| pituitary gland | 0 / 16585 | 0 | |
| placenta | 0 / 280825 | 0 | |
| prostate | 1 / 189345 | 5 | |
| salivary gland | 0 / 20155 | 0 | |
| skin | 17 / 210574 | 80 | |
| spleen | 0 / 53952 | 0 | |
| stomach | 1 / 96619 | 10 | |
| testis | 1 / 330442 | 3 | |
| thymus | 0 / 81131 | 0 | |
| thyroid | 0 / 47473 | 0 | |
| tonsil | 0 / 16999 | 0 | |
| trachea | 0 / 52413 | 0 | |
| umbilical cord | 0 / 13680 | 0 | |
| uterus | 4 / 232878 | 17 | |
| vascular | 2 / 51780 | 38 | |
Microarray in - Probe name: A_23_P204941
- Donor H0351.2001
- Sex: Male Age: 24 years Race/Ethnicity: African American Handedness: Left
- Tissue Receipt Date: 7/29/2009 Serology: Pass Tissue pH :6.72 Additional Medical Information :History of asthma
- Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
- Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
| Tissue | Expression(mean ± stddev) | Expression Bar |
|---|---|---|
| Amygdala | 3.17 ± 0.77 | ![](../"images/bar_3.png"){kind=small}   |
| Basal Forebrain | 3.29 ± 0.45 | |
| Basal Part of Pons | 2.37 ± 0.46 | |
| Cerebellar Cortex | 2.35 ± 0.63 | |
| Cerebellar Nuclei | 2.65 ± 0.7 | |
| Claustrum | 2.88 ± 0.71 | |
| Epithalamus | 2.89 ± 0.72 | |
| Frontal Lobe | 2.76 ± 0.74 | |
| Globus Pallidus | 3.99 ± 0.47 | |
| Hypothalamus | 2.81 ± 0.51 | |
| Insula | 2.82 ± 0.64 | |
| Limbic Lobe | 2.75 ± 0.83 | |
| Mesencephalon | 3 ± 0.82 | |
| Myelencephalon | 2.9 ± 0.75 | |
| Occipital Lobe | 3.09 ± 0.59 | |
| Parietal Lobe | 2.93 ± 0.68 | |
| Pontine Tegmentum | 3.07 ± 0.69 | |
| Striatum | 3.4 ± 0.58 | |
| Subthalamus | 2.53 ± 0.88 | |
| Temporal Lobe | 2.68 ± 0.73 | |
| Thalamus | 3.29 ± 0.63 | |
| White Matter | 1.7 ± 0.63 | |
Mouse Brain ISH 
| Gene Symbol | Brain Structure ID | Brain Structure Name | Express Desity/Level (Meatured by ISH) | Express Bar |
|---|---|---|---|---|
| Gjb2 | CB | Cerebellum | 100 | |
| 84.97 | | |||
| Gjb2 | CTX | Cerebral cortex | 100 | |
| 85.43 | | |||
| Gjb2 | HIP | Hippocampal region | 86.3 | |
| 82.31 | | |||
| Gjb2 | HPF | Hippocampal formation | 93.38 | |
| 84.68 | | |||
| Gjb2 | HY | Hypothalamus | 75.74 | |
| 65.6 | | |||
| Gjb2 | LSX | Lateral septal complex | 90.49 | |
| 71.33 | | |||
| Gjb2 | MB | Midbrain | 71.35 | |
| 66.65 | | |||
| Gjb2 | MY | Medulla | 82.91 | |
| 76.63 | | |||
| Gjb2 | OLF | Olfactory bulb | 100 | |
| 92.37 | | |||
| Gjb2 | P | Pons | 80.31 | |
| 73.03 | | |||
| Gjb2 | PAL | Pallidum | 73.44 | |
| 64.71 | | |||
| Gjb2 | RHP | Retrohippocampal region | 100 | |
| 87.08 | | |||
| Gjb2 | sAMY | Striatum-like amygdalar nuclei | 83.09 | |
| 69.05 | | |||
| Gjb2 | STR | Striatum | 82.25 | |
| 67.57 | | |||
| Gjb2 | STRd | Striatum dorsal region | 79.37 | |
| 65.97 | | |||
| Gjb2 | STRv | Striatum ventral region | 91.25 | |
| 71.78 | | |||
| Gjb2 | TH | Thalamus | 76.53 | |
| 68.24 | |
| Peptide Name | Peptide Lengh | Peptide Start | Peptide End | Peptide Sequence | Source |
|---|---|---|---|---|---|
| PAp00082222 | 14 | 62 | 75 | NVCYDHYFPISHIR | Peptide Atlas |