hu.MAP 3.0: Complex View
Human Protein Complex Map
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Complex: huMAP3_08898.1
Complex Portal: CPX-23453
Confidence: High
Proteins| Genename | Protein Name | Uniprot Annotation Score | Links |
|---|---|---|---|
| TCTN2 | Tectonic-2 | 5 | UniProt NCBI |
| B9D1 | B9 domain-containing protein 1 (MKS1-related protein 1) | 5 | UniProt NCBI |
| PGAP6 | Post-GPI attachment to proteins factor 6 (EC 3.1.1.4) (GPI processing phospholipase A2) (GPI-PLA2) (Protein M83) (Transmembrane protein 6) (Transmembrane protein 8) (Transmembrane protein 8A) | 5 | UniProt NCBI |
| GLRB | Glycine receptor subunit beta (Glycine receptor 58 kDa subunit) | 5 | UniProt NCBI |
| MKS1 | Tectonic-like complex member MKS1 (Meckel syndrome type 1 protein) | 5 | UniProt NCBI |
| DNAJA4 | DnaJ homolog subfamily A member 4 | 5 | UniProt NCBI |
Enrichments
| Term ID | Corrected Pval | Fraction Complex Coverage | Proteins | Term Name |
|---|---|---|---|---|
| HP:0010459 | 1.07472199296e-05 | 0.5 | B9D1 TCTN2 MKS1 | True hermaphroditism |
| HP:0100732 | 2.85880110041e-05 | 0.5 | B9D1 TCTN2 MKS1 | Pancreatic fibrosis |
| HP:0006870 | 3.36277715305e-05 | 0.5 | B9D1 TCTN2 MKS1 | Lobar holoprosencephaly |
| HP:0000068 | 3.92263544242e-05 | 0.5 | B9D1 TCTN2 MKS1 | Urethral atresia |
| HP:0001737 | 0.000119577601747 | 0.5 | B9D1 TCTN2 MKS1 | Pancreatic cysts |
| HP:0010295 | 0.000119577601747 | 0.5 | B9D1 TCTN2 MKS1 | Aplasia/Hypoplasia of the tongue |
| HP:0000037 | 0.000132369077408 | 0.5 | B9D1 TCTN2 MKS1 | Male pseudohermaphroditism |
| HP:0001747 | 0.000132369077408 | 0.5 | B9D1 TCTN2 MKS1 | Accessory spleen |
| HP:0002323 | 0.000132369077408 | 0.5 | B9D1 TCTN2 MKS1 | Anencephaly |
| WP:WP4656 | 0.0001559950529 | 0.5 | B9D1 TCTN2 MKS1 | Joubert syndrome |
| HP:0002085 | 0.000192618780427 | 0.5 | B9D1 TCTN2 MKS1 | Occipital encephalocele |
| HP:0006706 | 0.00022859990461 | 0.5 | B9D1 TCTN2 MKS1 | Cystic liver disease |
| HP:0000221 | 0.000248155906589 | 0.5 | B9D1 TCTN2 MKS1 | Furrowed tongue |
| HP:0002612 | 0.000268794104831 | 0.5 | B9D1 TCTN2 MKS1 | Congenital hepatic fibrosis |
| HP:0000073 | 0.000290543404042 | 0.5 | B9D1 TCTN2 MKS1 | Ureteral duplication |
| GO:0036038 | 0.000316805542726 | 0.5 | B9D1 TCTN2 MKS1 | MKS complex |
| HP:0000647 | 0.000389229073674 | 0.5 | B9D1 TCTN2 MKS1 | Sclerocornea |
| WP:WP4536 | 0.000413392056955 | 0.5 | B9D1 TCTN2 MKS1 | Genes related to primary cilium development based on CRISPR |
| HP:0002876 | 0.000541046995004 | 0.5 | B9D1 TCTN2 MKS1 | Episodic tachypnea |
| HP:0001177 | 0.000687513326152 | 0.5 | B9D1 TCTN2 MKS1 | Preaxial hand polydactyly |
| HP:0004422 | 0.00085820130959 | 0.5 | B9D1 TCTN2 MKS1 | Biparietal narrowing |
| REAC:R-HSA-5620912 | 0.00090449234483 | 0.5 | B9D1 TCTN2 MKS1 | Anchoring of the basal body to the plasma membrane |
| HP:0000528 | 0.00116365272104 | 0.5 | B9D1 TCTN2 MKS1 | Anophthalmia |
| HP:0001830 | 0.00116365272104 | 0.5 | B9D1 TCTN2 MKS1 | Postaxial foot polydactyly |
| HP:0001746 | 0.00140289497732 | 0.5 | B9D1 TCTN2 MKS1 | Asplenia |
| HP:0001360 | 0.00146741733922 | 0.5 | B9D1 TCTN2 MKS1 | Holoprosencephaly |
| WP:WP4803 | 0.00167174375179 | 0.5 | B9D1 TCTN2 MKS1 | Ciliopathies |
| HP:0010451 | 0.00174520549178 | 0.5 | B9D1 TCTN2 MKS1 | Aplasia/Hypoplasia of the spleen |
| HP:0009799 | 0.00189631547552 | 0.5 | B9D1 TCTN2 MKS1 | Supernumerary spleens |
| HP:0100258 | 0.00189631547552 | 0.5 | B9D1 TCTN2 MKS1 | Preaxial polydactyly |
| HP:0001162 | 0.00249319307056 | 0.5 | B9D1 TCTN2 MKS1 | Postaxial hand polydactyly |
| HP:0010322 | 0.00249319307056 | 0.5 | B9D1 TCTN2 MKS1 | Abnormal fifth toe morphology |
| HP:0002789 | 0.0026840867676 | 0.5 | B9D1 TCTN2 MKS1 | Tachypnea |
| HP:0000003 | 0.0026840867676 | 0.5 | B9D1 TCTN2 MKS1 | Multicystic kidney dysplasia |
| HP:0012090 | 0.00278306724781 | 0.5 | B9D1 TCTN2 MKS1 | Abnormal pancreas morphology |
| HP:0001696 | 0.00378495258144 | 0.5 | B9D1 TCTN2 MKS1 | Situs inversus totalis |
| HP:0011534 | 0.00403597422216 | 0.5 | B9D1 TCTN2 MKS1 | Abnormal spatial orientation of the cardiac segments |
| HP:0000657 | 0.00443283482612 | 0.5 | B9D1 TCTN2 MKS1 | Oculomotor apraxia |
| HP:0000457 | 0.00485475790375 | 0.5 | B9D1 TCTN2 MKS1 | Depressed nasal ridge |
| HP:0000062 | 0.00500109820736 | 0.5 | B9D1 TCTN2 MKS1 | Ambiguous genitalia |
| HP:0002084 | 0.00530249442786 | 0.5 | B9D1 TCTN2 MKS1 | Encephalocele |
| HP:0011815 | 0.00530249442786 | 0.5 | B9D1 TCTN2 MKS1 | Cephalocele |
| HP:0001651 | 0.00645180628587 | 0.5 | B9D1 TCTN2 MKS1 | Dextrocardia |
| HP:0004307 | 0.00662835320171 | 0.5 | B9D1 TCTN2 MKS1 | Abnormal anatomic location of the heart |
| HP:0008053 | 0.00680807287808 | 0.5 | B9D1 TCTN2 MKS1 | Aplasia/Hypoplasia of the iris |
| HP:0008055 | 0.00680807287808 | 0.5 | B9D1 TCTN2 MKS1 | Aplasia/Hypoplasia affecting the uvea |
| HP:0000482 | 0.00736654421907 | 0.5 | B9D1 TCTN2 MKS1 | Microcornea |
| HP:0001829 | 0.0075592305979 | 0.5 | B9D1 TCTN2 MKS1 | Foot polydactyly |
| REAC:R-HSA-5617833 | 0.00760491079328 | 0.5 | B9D1 TCTN2 MKS1 | Cilium Assembly |
| HP:0009136 | 0.00836335600305 | 0.5 | B9D1 TCTN2 MKS1 | Duplication involving bones of the feet |
| HP:0008062 | 0.00857286967155 | 0.5 | B9D1 TCTN2 MKS1 | Aplasia/Hypoplasia affecting the anterior segment of the eye |
| HP:0000293 | 0.00922220710687 | 0.5 | B9D1 TCTN2 MKS1 | Full cheeks |
| HP:0001305 | 0.00922220710687 | 0.5 | B9D1 TCTN2 MKS1 | Dandy-Walker malformation |
| HP:0001395 | 0.00944567636069 | 0.5 | B9D1 TCTN2 MKS1 | Hepatic fibrosis |
| HP:0100259 | 0.00944567636069 | 0.5 | B9D1 TCTN2 MKS1 | Postaxial polydactyly |
| HP:0034237 | 0.00967270294092 | 0.5 | B9D1 TCTN2 MKS1 | Open neural tube defect |
| HP:0002251 | 0.0111110959064 | 0.5 | B9D1 TCTN2 MKS1 | Aganglionic megacolon |
| HP:0004362 | 0.0111110959064 | 0.5 | B9D1 TCTN2 MKS1 | Abnormal enteric ganglion morphology |
| HP:0025028 | 0.0113637882169 | 0.5 | B9D1 TCTN2 MKS1 | Abnormal enteric nervous system morphology |
| HP:0012331 | 0.0113637882169 | 0.5 | B9D1 TCTN2 MKS1 | Abnormal autonomic nervous system morphology |
| HP:0025633 | 0.0113637882169 | 0.5 | B9D1 TCTN2 MKS1 | Abnormal ureter morphology |
| HP:0000532 | 0.0129601794289 | 0.5 | B9D1 TCTN2 MKS1 | Abnormal chorioretinal morphology |
| HP:0010950 | 0.0141028469624 | 0.5 | B9D1 TCTN2 MKS1 | Abnormal fourth ventricle morphology |
| HP:0002198 | 0.0141028469624 | 0.5 | B9D1 TCTN2 MKS1 | Dilated fourth ventricle |
| HP:0002350 | 0.0156224342076 | 0.5 | B9D1 TCTN2 MKS1 | Cerebellar cyst |
| HP:0001120 | 0.0179262368461 | 0.5 | B9D1 TCTN2 MKS1 | Abnormality of corneal size |
| HP:0001161 | 0.0182726158894 | 0.5 | B9D1 TCTN2 MKS1 | Hand polydactyly |
| HP:0000612 | 0.0197023659792 | 0.5 | B9D1 TCTN2 MKS1 | Iris coloboma |
| HP:0001562 | 0.0197023659792 | 0.5 | B9D1 TCTN2 MKS1 | Oligohydramnios |
| HP:0000340 | 0.0219826348817 | 0.5 | B9D1 TCTN2 MKS1 | Sloping forehead |
| HP:0000610 | 0.0219826348817 | 0.5 | B9D1 TCTN2 MKS1 | Abnormal choroid morphology |
| HP:0005445 | 0.0231853700795 | 0.5 | B9D1 TCTN2 MKS1 | Enlarged posterior fossa |
| REAC:R-HSA-1852241 | 0.0232310173112 | 0.5 | B9D1 TCTN2 MKS1 | Organelle biogenesis and maintenance |
| HP:0002553 | 0.0266033265904 | 0.5 | B9D1 TCTN2 MKS1 | Highly arched eyebrow |
| HP:0002126 | 0.0270525934689 | 0.5 | B9D1 TCTN2 MKS1 | Polymicrogyria |
| HP:0010576 | 0.0308282983803 | 0.5 | B9D1 TCTN2 MKS1 | Intracranial cystic lesion |
| HP:0002186 | 0.0313233529835 | 0.5 | B9D1 TCTN2 MKS1 | Apraxia |
| HP:0030724 | 0.0318236267042 | 0.5 | B9D1 TCTN2 MKS1 | Central nervous system cyst |
| GO:0035869 | 0.0330200031842 | 0.5 | B9D1 TCTN2 MKS1 | ciliary transition zone |
| HP:0000932 | 0.0338774376034 | 0.5 | B9D1 TCTN2 MKS1 | Abnormal posterior cranial fossa morphology |
| HP:0000481 | 0.0341333297878 | 0.666666666667 | B9D1 MKS1 TCTN2 GLRB | Abnormal cornea morphology |
| HP:0009997 | 0.0399718389151 | 0.5 | B9D1 TCTN2 MKS1 | Duplication of phalanx of hand |
| HP:0009142 | 0.0405591774535 | 0.5 | B9D1 TCTN2 MKS1 | Duplication of bones involving the upper extremities |
| HP:0004275 | 0.0405591774535 | 0.5 | B9D1 TCTN2 MKS1 | Duplication of hand bones |
| HP:0002693 | 0.0411521790966 | 0.5 | B9D1 TCTN2 MKS1 | Abnormal skull base morphology |
| HP:0002104 | 0.0411521790966 | 0.5 | B9D1 TCTN2 MKS1 | Apnea |
| HP:0000426 | 0.0429654221844 | 0.5 | B9D1 TCTN2 MKS1 | Prominent nasal bridge |
| HP:0011119 | 0.0461031757991 | 0.5 | B9D1 TCTN2 MKS1 | Abnormal nasal dorsum morphology |
| HP:0000368 | 0.0467483115964 | 0.5 | B9D1 TCTN2 MKS1 | Low-set, posteriorly rotated ears |
| CORUM:7459 | 0.0499436884912 | 0.166666666667 | GLRB | Glycine receptor (GLRA11, GLRB) |
Edges
| Protein 1 | Protein 2 | Score | ProteomeHD | Interface Overlap | Evidence |
|---|---|---|---|---|---|
| B9D1 | TCTN2 | 0.998 |
structurally_consistent (dimer)
|
bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM bioplex3_HCT116 gupta_WMM | |
| GLRB | TCTN2 | 0.988 | bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM | ||
| B9D1 | MKS1 | 0.977 |
mutually_exclusive (Q9BPU9)
structurally_consistent (dimer) |
bioplex_WMM bioplex3_WMM gupta () boldt gupta_WMM boldt_WMM | |
| TCTN2 | MKS1 | 0.977 |
mutually_exclusive (Q9UPM9)
|
bioplex_WMM bioplex3_WMM gupta () bioplex3_HCT116 gupta_WMM | |
| TCTN2 | DNAJA4 | 0.962 | bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM | ||
| PGAP6 | TCTN2 | 0.96 | bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM | ||
| PGAP6 | GLRB | 0.483 | bioplex_WMM bioplex3_WMM WMM_only | ||
| B9D1 | DNAJA4 | 0.261 | 0.086 | bioplex_WMM bioplex3_WMM WMM_only | |
| PGAP6 | DNAJA4 | 0.204 | bioplex_WMM bioplex3_WMM WMM_only | ||
| DNAJA4 | MKS1 | 0.198 | bioplex3_WMM WMM_only | ||
| PGAP6 | B9D1 | 0.187 | bioplex_WMM bioplex3_WMM WMM_only | ||
| B9D1 | GLRB | 0.166 | bioplex_WMM bioplex3_WMM WMM_only | ||
| GLRB | DNAJA4 | 0.083 | bioplex_WMM bioplex3_WMM WMM_only | ||
| PGAP6 | MKS1 | 0.026 | bioplex3_WMM WMM_only | ||
| GLRB | MKS1 | 0.009 | bioplex3_WMM WMM_only |
Related Complexes