Q8CFW7
PR
Gene name |
Cc2d2a |
Protein name |
Coiled-coil and C2 domain-containing protein 2A |
Names |
|
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:231214 |
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 Q8CFW7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8CFW7-F1 | Predicted | AlphaFoldDB |
64 variants for Q8CFW7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs50729127 | 3 | T>A | No | EVA | |
| rs3388756843 | 17 | G>V | No | EVA | |
| rs3388760277 | 38 | R>I | No | EVA | |
| rs3388760798 | 45 | S>T | No | EVA | |
| rs49041671 | 170 | R>C | No | EVA | |
| rs49041671 | 170 | R>S | No | EVA | |
| rs238889801 | 189 | A>V | No | EVA | |
| rs47504812 | 215 | G>D | No | EVA | |
| rs52143285 | 221 | H>Q | No | EVA | |
| rs6402236 | 250 | A>P | No | EVA | |
| rs228940155 | 264 | F>V | No | EVA | |
| rs3388753314 | 269 | A>T | No | EVA | |
| rs218404893 | 280 | Q>H | No | EVA | |
| rs3395447805 | 280 | Q>R | No | EVA | |
| rs3388748287 | 310 | E>G | No | EVA | |
| rs242757233 | 324 | R>H | No | EVA | |
| rs242757233 | 324 | R>L | No | EVA | |
| rs3388759036 | 345 | G>* | No | EVA | |
| rs253417501 | 367 | T>S | No | EVA | |
| rs3388748311 | 377 | L>Q | No | EVA | |
| rs3388759595 | 380 | L>S | No | EVA | |
| rs3388744922 | 385 | E>D | No | EVA | |
| rs252066179 | 393 | H>Q | No | EVA | |
| rs220905624 | 399 | D>G | No | EVA | |
| rs3388765348 | 524 | R>M | No | EVA | |
| rs252588124 | 541 | P>L | No | EVA | |
| rs3395511843 | 578 | H>Q | No | EVA | |
| rs228157426 | 611 | S>P | No | EVA | |
| rs3388759648 | 665 | D>H | No | EVA | |
| rs3388758998 | 693 | E>* | No | EVA | |
| rs249723439 | 768 | N>T | No | EVA | |
| rs3388748286 | 799 | S>L | No | EVA | |
| rs259746630 | 804 | H>Y | No | EVA | |
| rs3388760536 | 817 | L>* | No | EVA | |
| rs3388763076 | 818 | I>V | No | EVA | |
| rs47792190 | 829 | R>G | No | EVA | |
| rs3388731919 | 832 | L>V | No | EVA | |
| rs3388744923 | 855 | W>R | No | EVA | |
| rs3388748345 | 872 | M>I | No | EVA | |
| rs3395453258 | 898 | F>V | No | EVA | |
| rs3388748348 | 958 | T>S | No | EVA | |
| rs3388757903 | 1012 | I>N | No | EVA | |
| rs3388760741 | 1017 | L>P | No | EVA | |
| rs3388731858 | 1042 | L>M | No | EVA | |
| rs3413100951 | 1042 | L>R | No | EVA | |
| rs3388759653 | 1052 | N>D | No | EVA | |
| rs219732913 | 1101 | G>S | No | EVA | |
| rs3395500453 | 1109 | V>M | No | EVA | |
| rs3388751805 | 1198 | T>P | No | EVA | |
| rs3388760310 | 1201 | F>I | No | EVA | |
| rs3395453306 | 1223 | E>A | No | EVA | |
| rs3395453301 | 1223 | E>D | No | EVA | |
| rs3395432664 | 1226 | I>L | No | EVA | |
| rs3395135944 | 1227 | I>T | No | EVA | |
| rs3395395772 | 1238 | L>M | No | EVA | |
| rs49532932 | 1266 | D>G | No | EVA | |
| rs51441999 | 1288 | A>T | No | EVA | |
| rs51653860 | 1318 | K>Q | No | EVA | |
| rs215268445 | 1337 | T>A | No | EVA | |
| rs3395500576 | 1364 | W>C | No | EVA | |
| rs3388756822 | 1387 | N>T | No | EVA | |
| rs264092689 | 1418 | N>K | No | EVA | |
| rs3388763061 | 1582 | S>F | No | EVA | |
| rs3388759578 | 1617 | K>Q | No | EVA |
No associated diseases with Q8CFW7
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| ciliary transition zone | A region of the cilium between the basal body and proximal segment that is characterized by Y-shaped assemblages that connect axonemal microtubules to the ciliary membrane. The ciliary transition zone appears to function as a gate that controls ciliary membrane composition and separates the cytosol from the ciliary plasm. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| MKS complex | A protein complex that is located at the ciliary transition zone and consists of several proteins some of which are membrane bound. Acts as an organiser of transition zone inner structure, specifically the Y-shaped links, in conjunction with the NPHP complex. The MKS complex also acts as part of the selective barrier that prevents diffusion of proteins between the ciliary cytoplasm and cellular cytoplasm as well as between the ciliary membrane and plasma membrane. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| axoneme assembly | The assembly and organization of an axoneme, the bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. |
| camera-type eye development | The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. |
| cilium assembly | The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| determination of left/right symmetry | The establishment of an organism's body plan or part of an organism with respect to the left and right halves. The pattern can either be symmetric, such that the halves are mirror images, or asymmetric where the pattern deviates from this symmetry. |
| embryonic brain development | The process occurring during the embryonic phase whose specific outcome is the progression of the brain over time, from its formation to the mature structure. |
| heart development | The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
| kidney development | The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine. |
| motile cilium assembly | The aggregation, arrangement and bonding together of a set of components to form a motile cilium. |
| neural tube closure | The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline. |
| non-motile cilium assembly | The aggregation, arrangement and bonding together of a set of components to form a non-motile cilium. |
| protein localization to ciliary transition zone | A process in which a protein is transported to, or maintained in, a location within a ciliary transition zone. |
| smoothened signaling pathway | The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9P2K1 | CC2D2A | Coiled-coil and C2 domain-containing protein 2A | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNTNDEKMKI | ISEDFTGDGV | DTEAGRRKKN | SKVRRQQRKK | KPPASPPEEM | VSDKFQDGGQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QEVVEEEPET | NLLSLTARRG | PRSLPPIPSA | SRTGFAEFSM | RERMREKLQA | ARSKAESALL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RDVPTPRPRR | LRSPSREKET | ETEFGTEPST | EVQDTQKEDD | TKSYSRIKFR | DSVRKIKSKP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QLPPGFPSAE | EAYNFFTFNF | DPEPEESEEK | SPVKGGERAH | HEDQEGEEGT | QAQERAKKTE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EEELLNGKDA | EDFLLGLDPT | AHDFVAVRAA | EYKSARIQLQ | KEKEILFTPS | RLTVPTYKKL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PENIQPRFLE | DEGLYIGARP | EVARTNENIM | ENRLLIQEPG | SKWFGDDGRI | LALPSPIKPF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PSRPSLTTRE | QSPKAGLETL | YKKAEKYVHS | RQHMIGSGDP | PGNFQLDIDI | SGLIFTHHPC |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FSREHVLASK | LAQLYDQYLA | RQQRNKTKFL | TDKLQALRKA | VQTSLNPEKP | HQSLDTTQKT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| INEYKSEIRQ | TRKLRDAEQE | KDRTLLKTII | KVWKEMKSLR | EFQRFTNTPL | KLVLRKEKVD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PKLDEDAYEA | EIQAEIHELL | EEHMEEYATK | MEEYRTSHQQ | WKAWRKAQRA | KKKKKKQTTE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EHLEEEEAEE | SFPEEEVTKP | IPPEPTDPAV | IEQQVRERAA | HSRRRPGEPT | LIPELSLAGN |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VTPNDQCPRV | EVSRREDVRR | RSVYLKVVFN | SKEVSRTVSR | PLGADFRVHF | GQIFNLQIFN |
| 730 | 740 | 750 | 760 | 770 | 780 |
| WPESLMLQVY | ETIGHSGTTL | LAEVFLPIPE | TTLVTGRAPI | EEVEFSSNQH | VTLDHEGVGS |
| 790 | 800 | 810 | 820 | 830 | 840 |
| GVPFSFEADG | SNQLTLMTSG | KVSHSVAWAV | GENGIPLIPP | LSQQNIGFRS | ALRRADAISS |
| 850 | 860 | 870 | 880 | 890 | 900 |
| IGTSGLTDMK | KLAKWAAESK | LDPNDPNHAP | LMQLISVATS | GESYVPDFFR | LEQLQQEFNF |
| 910 | 920 | 930 | 940 | 950 | 960 |
| VSEEELNRSK | RFRLLHLRSQ | EVPEFRNYKQ | IPAYDREIME | KVFQDYEKRL | RDRNVIETKD |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| HLDMHRATVA | KYLQQVREAV | VNRFLTAKHH | FLLTDLVVEE | EVPNISSEGS | GILGLSLFKL |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| AEQKRPLRPR | RKGRKKVTAQ | NLSDGDIKLL | VNIIRAYDIP | VRKPVVSKFQ | QPSRSSRTFS |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| EKQTASPSTH | SPLHNADYPL | GQVLVRPFVE | VSFQRTICHT | TTAEGPNPSW | NEELELPFRA |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| PNGDYSTASL | QSVKDDVYIN | IFDEVLYDIL | EDDRERGSGI | HTRIERHWLG | CVKIPFSTIY |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| FQARIDGTFK | IDIPPVLLGY | SKERNIIMER | AFDSARSLSE | GSYITLFITI | EPQLVPGEPM |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| REKMSDMLKK | FDTQEDEKLL | QATEKFQAEC | ALKFPQRQCL | TTVTDMTGKT | VFITRYLKPL |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| NPPQELLHVY | PNNPQATAEL | VARYVSLIPF | LPDSVSFAGV | CDLWSTSDQF | LDLLAGDEEE |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| HAVLLCNYFL | FLGKKAWLVM | GSAIPEGPTA | YVLTWEKNYY | LIWNPCSGHC | YGQFDAFCPL |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| KSVGCLIGPD | NIWFNIQHHD | SPLRINFDVT | KPKLWKSFFS | RSLPYPGLSS | VQPEELIYQH |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| TDKAVAAELQ | DRIEKILKEK | IMDWRPRHLT | RWNRYCTSTL | RHFLPLLERS | QGEDIEDDHR |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| AELLKQLGDY | RFSGFPLHMP | YSEVKPLVEA | VYSTGVHNID | LPNVEFALAV | YIHPYPKNVL |
| 1630 | |||||
| SVWIYVASLV | RNR |