hu.MAP 3.0: Complex View
Human Protein Complex Map
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Complex: huMAP3_15177.1
Confidence: Medium
Proteins| Genename | Protein Name | Uniprot Annotation Score | Links |
|---|---|---|---|
| B9D2 | B9 domain-containing protein 2 (MKS1-related protein 2) | 5 | UniProt NCBI |
| CC2D2A | Coiled-coil and C2 domain-containing protein 2A | 5 | UniProt NCBI |
| TMEM17 | Transmembrane protein 17 | 4 | UniProt NCBI |
| B9D1 | B9 domain-containing protein 1 (MKS1-related protein 1) | 5 | UniProt NCBI |
Enrichments
| Term ID | Corrected Pval | Fraction Complex Coverage | Proteins | Term Name |
|---|---|---|---|---|
| GO:0036038 | 8.68316823302e-09 | 1.0 | B9D2 B9D1 CC2D2A TMEM17 | MKS complex |
| WP:WP4656 | 2.32420665733e-08 | 1.0 | B9D2 B9D1 CC2D2A TMEM17 | Joubert syndrome |
| WP:WP4803 | 5.67843680388e-07 | 1.0 | B9D2 B9D1 CC2D2A TMEM17 | Ciliopathies |
| HP:0010459 | 1.66514003543e-06 | 0.75 | B9D2 CC2D2A B9D1 | True hermaphroditism |
| HP:0100732 | 4.43161090403e-06 | 0.75 | B9D2 CC2D2A B9D1 | Pancreatic fibrosis |
| GO:0035869 | 5.11991174176e-06 | 1.0 | B9D2 B9D1 CC2D2A TMEM17 | ciliary transition zone |
| HP:0006870 | 5.21339206211e-06 | 0.75 | B9D2 CC2D2A B9D1 | Lobar holoprosencephaly |
| HP:0000068 | 6.08197827663e-06 | 0.75 | B9D2 CC2D2A B9D1 | Urethral atresia |
| HP:0001737 | 1.85574544538e-05 | 0.75 | B9D2 CC2D2A B9D1 | Pancreatic cysts |
| HP:0010295 | 1.85574544538e-05 | 0.75 | B9D2 CC2D2A B9D1 | Aplasia/Hypoplasia of the tongue |
| HP:0000037 | 2.05446971161e-05 | 0.75 | B9D2 CC2D2A B9D1 | Male pseudohermaphroditism |
| HP:0001747 | 2.05446971161e-05 | 0.75 | B9D2 CC2D2A B9D1 | Accessory spleen |
| HP:0002323 | 2.05446971161e-05 | 0.75 | B9D2 CC2D2A B9D1 | Anencephaly |
| HP:0002419 | 2.73460533271e-05 | 0.75 | B9D2 CC2D2A B9D1 | Molar tooth sign on MRI |
| HP:0002085 | 2.99082081822e-05 | 0.75 | B9D2 CC2D2A B9D1 | Occipital encephalocele |
| HP:0006706 | 3.55023502799e-05 | 0.75 | B9D2 CC2D2A B9D1 | Cystic liver disease |
| HP:0000221 | 3.85434269704e-05 | 0.75 | B9D2 CC2D2A B9D1 | Furrowed tongue |
| HP:0002612 | 4.17532321542e-05 | 0.75 | B9D2 CC2D2A B9D1 | Congenital hepatic fibrosis |
| HP:0000073 | 4.51363082059e-05 | 0.75 | B9D2 CC2D2A B9D1 | Ureteral duplication |
| WP:WP4536 | 5.29024993618e-05 | 0.75 | B9D1 CC2D2A TMEM17 | Genes related to primary cilium development based on CRISPR |
| HP:0000647 | 6.04921356923e-05 | 0.75 | B9D2 CC2D2A B9D1 | Sclerocornea |
| HP:0002876 | 8.41302083589e-05 | 0.75 | B9D2 CC2D2A B9D1 | Episodic tachypnea |
| HP:0001177 | 0.000106949015958 | 0.75 | B9D2 CC2D2A B9D1 | Preaxial hand polydactyly |
| HP:0004422 | 0.000133556051791 | 0.75 | B9D2 CC2D2A B9D1 | Biparietal narrowing |
| HP:0001830 | 0.000181203229342 | 0.75 | B9D2 CC2D2A B9D1 | Postaxial foot polydactyly |
| HP:0000528 | 0.000181203229342 | 0.75 | B9D2 CC2D2A B9D1 | Anophthalmia |
| REAC:R-HSA-5620912 | 0.000181248084935 | 0.75 | B9D2 CC2D2A B9D1 | Anchoring of the basal body to the plasma membrane |
| HPA:0060873 | 0.000188222566644 | 0.75 | B9D2 CC2D2A B9D1 | bronchus; ciliated cells (ciliary rootlets)[High] |
| HPA:0320873 | 0.000216822640131 | 0.75 | B9D2 CC2D2A B9D1 | nasopharynx; ciliated cells (ciliary rootlets)[High] |
| HP:0001746 | 0.000218547832795 | 0.75 | B9D2 CC2D2A B9D1 | Asplenia |
| HP:0001360 | 0.000228622881885 | 0.75 | B9D2 CC2D2A B9D1 | Holoprosencephaly |
| HP:0002418 | 0.000239002521919 | 0.75 | B9D2 CC2D2A B9D1 | Abnormal midbrain morphology |
| HP:0010451 | 0.000272014124812 | 0.75 | B9D2 CC2D2A B9D1 | Aplasia/Hypoplasia of the spleen |
| HP:0009799 | 0.000295627549748 | 0.75 | B9D2 CC2D2A B9D1 | Supernumerary spleens |
| HP:0100258 | 0.000295627549748 | 0.75 | B9D2 CC2D2A B9D1 | Preaxial polydactyly |
| HP:0010322 | 0.000388958517719 | 0.75 | B9D2 CC2D2A B9D1 | Abnormal fifth toe morphology |
| HP:0001162 | 0.000388958517719 | 0.75 | B9D2 CC2D2A B9D1 | Postaxial hand polydactyly |
| HP:0000003 | 0.0004188257634 | 0.75 | B9D2 CC2D2A B9D1 | Multicystic kidney dysplasia |
| HP:0002789 | 0.0004188257634 | 0.75 | B9D2 CC2D2A B9D1 | Tachypnea |
| HP:0012090 | 0.00043431544324 | 0.75 | B9D2 CC2D2A B9D1 | Abnormal pancreas morphology |
| HP:0001696 | 0.000591213991336 | 0.75 | B9D2 CC2D2A B9D1 | Situs inversus totalis |
| HP:0011534 | 0.000630553804854 | 0.75 | B9D2 CC2D2A B9D1 | Abnormal spatial orientation of the cardiac segments |
| HP:0000657 | 0.000692770824976 | 0.75 | B9D2 CC2D2A B9D1 | Oculomotor apraxia |
| HP:0000457 | 0.000758944308151 | 0.75 | B9D2 CC2D2A B9D1 | Depressed nasal ridge |
| HP:0000062 | 0.000781902282316 | 0.75 | B9D2 CC2D2A B9D1 | Ambiguous genitalia |
| HP:0002084 | 0.000829195350743 | 0.75 | B9D2 CC2D2A B9D1 | Encephalocele |
| HP:0011815 | 0.000829195350743 | 0.75 | B9D2 CC2D2A B9D1 | Cephalocele |
| HPA:0210873 | 0.000859375553248 | 0.75 | B9D2 CC2D2A B9D1 | fallopian tube; ciliated cells (ciliary rootlets)[High] |
| HP:0001651 | 0.00100965128821 | 0.75 | B9D2 CC2D2A B9D1 | Dextrocardia |
| HP:0004307 | 0.00103738630957 | 0.75 | B9D2 CC2D2A B9D1 | Abnormal anatomic location of the heart |
| HP:0008053 | 0.00106562365691 | 0.75 | B9D2 CC2D2A B9D1 | Aplasia/Hypoplasia of the iris |
| HP:0008055 | 0.00106562365691 | 0.75 | B9D2 CC2D2A B9D1 | Aplasia/Hypoplasia affecting the uvea |
| HP:0000482 | 0.00115339437847 | 0.75 | B9D2 CC2D2A B9D1 | Microcornea |
| HP:0001829 | 0.00118368574867 | 0.75 | B9D2 CC2D2A B9D1 | Foot polydactyly |
| HP:0009136 | 0.0013101427137 | 0.75 | B9D2 CC2D2A B9D1 | Duplication involving bones of the feet |
| HP:0008062 | 0.00134310215964 | 0.75 | B9D2 CC2D2A B9D1 | Aplasia/Hypoplasia affecting the anterior segment of the eye |
| HP:0000293 | 0.00144528042244 | 0.75 | B9D2 CC2D2A B9D1 | Full cheeks |
| HP:0001305 | 0.00144528042244 | 0.75 | B9D2 CC2D2A B9D1 | Dandy-Walker malformation |
| HP:0100259 | 0.00148045469337 | 0.75 | B9D2 CC2D2A B9D1 | Postaxial polydactyly |
| HP:0001395 | 0.00148045469337 | 0.75 | B9D2 CC2D2A B9D1 | Hepatic fibrosis |
| HP:0034237 | 0.00151619382444 | 0.75 | B9D2 CC2D2A B9D1 | Open neural tube defect |
| REAC:R-HSA-5617833 | 0.00153910156762 | 0.75 | B9D2 CC2D2A B9D1 | Cilium Assembly |
| HP:0004362 | 0.00174274034998 | 0.75 | B9D2 CC2D2A B9D1 | Abnormal enteric ganglion morphology |
| HP:0002251 | 0.00174274034998 | 0.75 | B9D2 CC2D2A B9D1 | Aganglionic megacolon |
| HP:0012331 | 0.00178255832039 | 0.75 | B9D2 CC2D2A B9D1 | Abnormal autonomic nervous system morphology |
| HP:0025633 | 0.00178255832039 | 0.75 | B9D2 CC2D2A B9D1 | Abnormal ureter morphology |
| HP:0025028 | 0.00178255832039 | 0.75 | B9D2 CC2D2A B9D1 | Abnormal enteric nervous system morphology |
| HP:0000532 | 0.0020342326718 | 0.75 | B9D2 CC2D2A B9D1 | Abnormal chorioretinal morphology |
| HPA:0320872 | 0.00217276217632 | 0.75 | B9D2 CC2D2A B9D1 | nasopharynx; ciliated cells (ciliary rootlets)[>=Medium] |
| HP:0002198 | 0.00221450043949 | 0.75 | B9D2 CC2D2A B9D1 | Dilated fourth ventricle |
| HP:0010950 | 0.00221450043949 | 0.75 | B9D2 CC2D2A B9D1 | Abnormal fourth ventricle morphology |
| HP:0002350 | 0.00245438072572 | 0.75 | B9D2 CC2D2A B9D1 | Cerebellar cyst |
| HP:0011461 | 0.00255497212544 | 0.75 | B9D2 CC2D2A B9D1 | Fetal onset |
| HP:0001120 | 0.00281835946936 | 0.75 | B9D2 CC2D2A B9D1 | Abnormality of corneal size |
| HP:0001161 | 0.00287311393068 | 0.75 | B9D2 CC2D2A B9D1 | Hand polydactyly |
| HP:0001562 | 0.00309920280847 | 0.75 | B9D2 CC2D2A B9D1 | Oligohydramnios |
| HP:0000612 | 0.00309920280847 | 0.75 | B9D2 CC2D2A B9D1 | Iris coloboma |
| HP:0000610 | 0.00346003629838 | 0.75 | B9D2 CC2D2A B9D1 | Abnormal choroid morphology |
| HP:0000340 | 0.00346003629838 | 0.75 | B9D2 CC2D2A B9D1 | Sloping forehead |
| HPA:0320871 | 0.00354198335794 | 0.75 | B9D2 CC2D2A B9D1 | nasopharynx; ciliated cells (ciliary rootlets)[>=Low] |
| HPA:0060872 | 0.00357399660096 | 0.75 | B9D2 CC2D2A B9D1 | bronchus; ciliated cells (ciliary rootlets)[>=Medium] |
| HP:0005445 | 0.00365047696464 | 0.75 | B9D2 CC2D2A B9D1 | Enlarged posterior fossa |
| HP:0002553 | 0.00419209128786 | 0.75 | B9D2 CC2D2A B9D1 | Highly arched eyebrow |
| REAC:R-HSA-1852241 | 0.00474364374959 | 0.75 | B9D2 CC2D2A B9D1 | Organelle biogenesis and maintenance |
| HP:0030674 | 0.00486237653059 | 0.75 | B9D2 CC2D2A B9D1 | Antenatal onset |
| HP:0010576 | 0.00486237653059 | 0.75 | B9D2 CC2D2A B9D1 | Intracranial cystic lesion |
| HP:0002186 | 0.00494096983998 | 0.75 | B9D2 CC2D2A B9D1 | Apraxia |
| HP:0030724 | 0.00502040273248 | 0.75 | B9D2 CC2D2A B9D1 | Central nervous system cyst |
| HP:0000932 | 0.00534661814787 | 0.75 | B9D2 CC2D2A B9D1 | Abnormal posterior cranial fossa morphology |
| GO:0060271 | 0.00604511321054 | 1.0 | B9D2 B9D1 CC2D2A TMEM17 | cilium assembly |
| HP:0009997 | 0.00631563681909 | 0.75 | B9D2 CC2D2A B9D1 | Duplication of phalanx of hand |
| HP:0004275 | 0.00640910099476 | 0.75 | B9D2 CC2D2A B9D1 | Duplication of hand bones |
| HP:0009142 | 0.00640910099476 | 0.75 | B9D2 CC2D2A B9D1 | Duplication of bones involving the upper extremities |
| HP:0002693 | 0.00650347944977 | 0.75 | B9D2 CC2D2A B9D1 | Abnormal skull base morphology |
| HP:0002104 | 0.00650347944977 | 0.75 | B9D2 CC2D2A B9D1 | Apnea |
| HP:0000426 | 0.00679214434062 | 0.75 | B9D2 CC2D2A B9D1 | Prominent nasal bridge |
| HP:0011119 | 0.00729194720183 | 0.75 | B9D2 CC2D2A B9D1 | Abnormal nasal dorsum morphology |
| HP:0000368 | 0.00739475140297 | 0.75 | B9D2 CC2D2A B9D1 | Low-set, posteriorly rotated ears |
| HPA:0060871 | 0.00761886797009 | 0.75 | B9D2 CC2D2A B9D1 | bronchus; ciliated cells (ciliary rootlets)[>=Low] |
| GO:0044782 | 0.00802497752911 | 1.0 | B9D2 B9D1 CC2D2A TMEM17 | cilium organization |
| HP:0000589 | 0.00814145236404 | 0.75 | B9D2 CC2D2A B9D1 | Coloboma |
| HP:0004426 | 0.00836362825601 | 0.75 | B9D2 CC2D2A B9D1 | Abnormal cheek morphology |
| HP:0010442 | 0.00893659963699 | 0.75 | B9D2 CC2D2A B9D1 | Polydactyly |
| HP:0000276 | 0.00905423426659 | 0.75 | B9D2 CC2D2A B9D1 | Long face |
| HP:0002438 | 0.0094132974026 | 0.75 | B9D2 CC2D2A B9D1 | Cerebellar malformation |
| HP:0007957 | 0.0100325283905 | 0.75 | B9D2 CC2D2A B9D1 | Corneal opacity |
| HP:0000107 | 0.0109440306967 | 0.75 | B9D2 CC2D2A B9D1 | Renal cyst |
| HP:0000568 | 0.0110785663677 | 0.75 | B9D2 CC2D2A B9D1 | Microphthalmia |
| HP:0006487 | 0.011350921992 | 0.75 | B9D2 CC2D2A B9D1 | Bowing of the long bones |
| HP:0100729 | 0.0120511721551 | 0.75 | B9D2 CC2D2A B9D1 | Large face |
| HP:0001320 | 0.0121945759809 | 0.75 | B9D2 CC2D2A B9D1 | Cerebellar vermis hypoplasia |
| HP:0002270 | 0.0121945759809 | 0.75 | B9D2 CC2D2A B9D1 | Abnormality of the autonomic nervous system |
| HP:0045005 | 0.0132302314017 | 0.75 | B9D2 CC2D2A B9D1 | Neural tube defect |
| HP:0410043 | 0.0132302314017 | 0.75 | B9D2 CC2D2A B9D1 | Abnormal neural tube morphology |
| HP:0001732 | 0.014163057839 | 0.75 | B9D2 CC2D2A B9D1 | Abnormality of the pancreas |
| HP:0000940 | 0.0149729444549 | 0.75 | B9D2 CC2D2A B9D1 | Abnormal diaphysis morphology |
| HP:0100887 | 0.0153053110125 | 0.75 | B9D2 CC2D2A B9D1 | Abnormality of globe size |
| HP:0006817 | 0.0158129816731 | 0.75 | B9D2 CC2D2A B9D1 | Aplasia/Hypoplasia of the cerebellar vermis |
| GO:0007224 | 0.0167406494658 | 0.75 | B9D1 CC2D2A TMEM17 | smoothened signaling pathway |
| HP:0007700 | 0.0172211022813 | 0.75 | B9D2 CC2D2A B9D1 | Ocular anterior segment dysgenesis |
| HP:0030809 | 0.0225827513263 | 0.75 | B9D2 CC2D2A B9D1 | Abnormal tongue morphology |
| HPA:0210872 | 0.0233681465302 | 0.75 | B9D2 CC2D2A B9D1 | fallopian tube; ciliated cells (ciliary rootlets)[>=Medium] |
| HP:0002334 | 0.0245890622354 | 0.75 | B9D2 CC2D2A B9D1 | Abnormal cerebellar vermis morphology |
| HP:0000864 | 0.0269530199508 | 0.75 | B9D2 CC2D2A B9D1 | Abnormality of the hypothalamus-pituitary axis |
| HP:0000069 | 0.0274431881859 | 0.75 | B9D2 CC2D2A B9D1 | Abnormality of the ureter |
| GO:0120031 | 0.0282069641472 | 1.0 | B9D2 B9D1 CC2D2A TMEM17 | plasma membrane bounded cell projection assembly |
| GO:0030031 | 0.0311314419202 | 1.0 | B9D2 B9D1 CC2D2A TMEM17 | cell projection assembly |
| HP:0000238 | 0.0318501377451 | 0.75 | B9D2 CC2D2A B9D1 | Hydrocephalus |
| HP:0001172 | 0.0332300831153 | 0.75 | B9D2 CC2D2A B9D1 | Abnormal thumb morphology |
| GO:0005929 | 0.0390756675372 | 1.0 | B9D2 B9D1 CC2D2A TMEM17 | cilium |
| HP:0410008 | 0.0416942448541 | 0.75 | B9D2 CC2D2A B9D1 | Abnormality of the peripheral nervous system |
| HP:0000157 | 0.0416942448541 | 0.75 | B9D2 CC2D2A B9D1 | Abnormality of the tongue |
| HP:0000525 | 0.0443504519214 | 0.75 | B9D2 CC2D2A B9D1 | Abnormality iris morphology |
| HP:0001560 | 0.046066142944 | 0.75 | B9D2 CC2D2A B9D1 | Abnormality of the amniotic fluid |
| HP:0000358 | 0.0467645338244 | 0.75 | B9D2 CC2D2A B9D1 | Posteriorly rotated ears |
| HP:0000795 | 0.0471163420483 | 0.75 | B9D2 CC2D2A B9D1 | Abnormality of the urethra |
| HPA:0210871 | 0.0484233024305 | 0.75 | B9D2 CC2D2A B9D1 | fallopian tube; ciliated cells (ciliary rootlets)[>=Low] |
| HP:0001883 | 0.0496281638505 | 0.75 | B9D2 CC2D2A B9D1 | Talipes |
| CORUM:6598 | 0.049938562206 | 0.25 | CC2D2A | CC2D2A-CEP290 complex |
| HP:0008056 | 0.0499940694024 | 0.75 | B9D2 CC2D2A B9D1 | Aplasia/Hypoplasia affecting the eye |
Edges
| Protein 1 | Protein 2 | Score | ProteomeHD | Evidence |
|---|---|---|---|---|
| B9D1 | B9D2 | 1.0 | bioplex3_HEK293 bioplex_WMM bioplex3_WMM gupta () boldt bioplex3_HCT116 gupta_WMM boldt_WMM | |
| B9D2 | CC2D2A | 0.997 | bioplex3_HEK293 bioplex_WMM bioplex3_WMM gupta () bioplex3_HCT116 | |
| B9D2 | TMEM17 | 0.902 | bioplex3_WMM gupta () | |
| B9D1 | TMEM17 | 0.902 | bioplex3_WMM gupta () | |
| CC2D2A | TMEM17 | 0.902 | bioplex3_WMM WMM_only | |
| B9D1 | CC2D2A | 0.86 | 0.126 | bioplex_WMM bioplex3_WMM gupta () |
Related Complexes