Q14206
PR
Gene name |
RCAN2 (DSCR1L1, ZAKI4) |
Protein name |
Calcipressin-2 |
Names |
Down syndrome candidate region 1-like 1, Myocyte-enriched calcineurin-interacting protein 2, MCIP2, Regulator of calcineurin 2, Thyroid hormone-responsive protein ZAKI-4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10231 |
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 Q14206
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q14206-F1 | Predicted | AlphaFoldDB |
138 variants for Q14206
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1561859760 CA363971380 |
2 | P>Q | No |
ClinGen Ensembl |
|
|
CA3837713 rs773526837 |
3 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA3837714 rs771325741 |
3 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3837712 rs773526837 |
3 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA363971367 rs1321522897 |
5 | S>G | No |
ClinGen gnomAD |
|
|
rs748200785 CA3837710 |
6 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3837711 rs769768175 |
6 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA363971359 rs1402307510 |
6 | M>V | No |
ClinGen gnomAD |
|
|
CA3837709 rs781050163 |
7 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760742347 CA138576209 |
9 | D>E | No |
ClinGen Ensembl |
|
|
CA363971301 rs1194496951 |
15 | A>P | No |
ClinGen gnomAD |
|
|
rs746848064 CA3837707 |
16 | C>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 16 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779804047 CA3837706 |
18 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1012760677 CA138576207 |
20 | V>D | No |
ClinGen TOPMed |
|
|
CA3837705 rs758142382 |
20 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363971260 rs1378110793 |
21 | E>D | No |
ClinGen TOPMed |
|
|
rs1284035363 CA363971266 COSM1263954 |
21 | E>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1467478247 CA363971252 |
23 | F>L | No |
ClinGen TOPMed |
|
|
CA3837702 rs756735411 |
24 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 25 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1234492888 CA363971209 |
29 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 29 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777363221 CA3837683 |
32 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA3837682 rs755643862 |
33 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1582028742 CA363969232 |
34 | G>R | No |
ClinGen Ensembl |
|
|
rs1009459234 CA138567958 |
35 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA3837679 rs559639342 |
37 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs201045399 CA138567957 |
37 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1297821519 CA363969184 |
38 | T>I | No |
ClinGen TOPMed |
|
|
rs1235450596 CA363969187 |
38 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA138567956 rs913238064 |
40 | D>N | No |
ClinGen Ensembl |
|
|
CA363969148 rs1206162890 |
41 | D>N | No |
ClinGen gnomAD |
|
|
CA363969130 rs1376246810 |
42 | C>R | No |
ClinGen TOPMed |
|
| TCGA novel | 43 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA138567955 rs989209804 |
44 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1582028661 CA363969043 |
48 | F>Y | No |
ClinGen Ensembl |
|
|
CA3837674 rs764192474 |
51 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1232496824 COSM1444889 COSM1444888 CA363968966 |
53 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA363968948 rs1376693955 |
55 | R>C | No |
ClinGen gnomAD |
|
|
CA363968946 rs1300129772 |
55 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA363968951 COSM1187047 rs1376693955 COSM1187046 |
55 | R>S | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 56 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760684422 CA3837673 |
56 | I>V | No |
ClinGen ExAC |
|
|
rs1030361933 CA138567954 |
62 | K>T | No |
ClinGen Ensembl |
|
|
CA3837671 rs771988647 |
65 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3837670 rs376237384 |
66 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363968774 rs1351978907 |
67 | A>T | No |
ClinGen TOPMed |
|
|
rs1216261012 CA363968710 |
70 | E>Q | No |
ClinGen TOPMed |
|
|
rs1266420423 CA363968648 |
72 | H>L | No |
ClinGen gnomAD |
|
|
COSM1487808 COSM1487809 CA138567952 rs964535584 |
76 | F>L | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA3837667 rs748999642 |
83 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA363968411 rs1480730298 |
84 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA363968414 rs1485767625 |
84 | Y>H | No |
ClinGen TOPMed |
|
|
rs1016014133 CA138567951 |
86 | A>S | No |
ClinGen Ensembl |
|
| TCGA novel | 89 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773049815 CA3837648 |
91 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs947146198 CA138567751 |
91 | P>S | No |
ClinGen TOPMed |
|
|
CA3837647 rs769540909 |
92 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1303605138 CA363967952 |
92 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs914702102 CA363967888 |
94 | D>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 95 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA138567749 rs952419372 |
95 | G>A | No |
ClinGen Ensembl |
|
|
rs1216288890 CA363967832 |
96 | D>E | No |
ClinGen gnomAD |
|
|
CA3837645 rs780835167 |
102 | P>L | No |
ClinGen ExAC |
|
|
CA363967695 rs1236704700 |
103 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1236704700 CA363967696 |
103 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA363967675 rs1371820068 |
104 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 104 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1300623990 CA363967598 |
107 | K>I | No |
ClinGen gnomAD |
|
|
rs754387173 CA3837644 COSM1079860 COSM1079859 |
112 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs757659395 CA3837641 |
113 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1352428303 CA363967402 |
116 | S>F | No |
ClinGen gnomAD |
|
|
rs778006458 CA3837639 |
118 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778006458 CA3837640 |
118 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA138567746 rs1057099 |
120 | G>S | No |
ClinGen Ensembl |
|
|
CA363967191 rs202003585 |
125 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201378585 CA3837638 |
125 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs767592407 CA3837636 |
126 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA363967177 rs1395184513 |
126 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA363967129 rs1430922293 |
127 | A>D | No |
ClinGen gnomAD |
|
|
rs201789783 CA3837635 COSM1739249 COSM1739250 |
128 | T>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA363966994 rs1430234404 |
131 | L>F | No |
ClinGen TOPMed |
|
|
CA363966990 rs1415541250 |
131 | L>P | No |
ClinGen gnomAD |
|
|
CA363966942 rs1260681269 |
133 | Y>H | No |
ClinGen gnomAD |
|
|
CA363966863 rs1348806681 |
135 | L>F | No |
ClinGen gnomAD |
|
|
CA363966828 rs1231209562 |
136 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 136 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 138 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296992575 CA363966767 |
138 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 141 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769627408 CA3837630 |
141 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA363962096 rs1464626012 |
145 | G>A | No |
ClinGen gnomAD |
|
|
rs988680841 CA138565143 |
146 | E>K | No |
ClinGen gnomAD |
|
|
rs988680841 CA363962093 |
146 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 147 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 150 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363962063 rs1167001256 |
150 | L>V | No |
ClinGen gnomAD |
|
|
rs765127090 CA363962048 |
152 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765127090 CA3837609 |
152 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363962046 rs1185695348 |
152 | A>V | No |
ClinGen gnomAD |
|
|
rs200220116 CA3837608 |
153 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA138565141 rs956979295 |
155 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 158 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760268134 CA363962007 |
159 | S>C | Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3837605 rs760268134 |
159 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA3837604 rs774854698 |
159 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3837601 rs778215470 |
161 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781518205 CA3837598 |
164 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs574501002 CA363961966 |
165 | C>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs556179069 CA3837595 |
166 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs556179069 CA3837596 |
166 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 167 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3837593 rs370830708 |
169 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758484418 CA3837594 |
169 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA138565140 rs963998289 |
171 | E>D | No |
ClinGen Ensembl |
|
|
CA3837592 rs765214848 |
172 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs757163638 CA3837591 |
176 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 177 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363961876 rs1471021940 |
178 | S>F | No |
ClinGen gnomAD |
|
|
rs1581998669 CA363961878 |
178 | S>P | No |
ClinGen Ensembl |
|
|
CA3837589 rs763869511 |
179 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3837588 rs778048389 |
185 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA363961825 rs1581998634 |
186 | T>P | No |
ClinGen Ensembl |
|
|
rs766970609 CA3837586 |
187 | R>Q | No |
ClinGen ExAC TOPMed |
|
|
rs770255594 COSM1444887 COSM1444886 CA3837583 |
188 | R>C | large_intestine Variant assessed as Somatic; 0.0001391 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs201948840 CA3837582 |
188 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs201948840 CA138565139 |
188 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1279985514 CA363961791 |
192 | P>L | No |
ClinGen TOPMed |
|
|
rs1374021020 CA363961786 |
193 | P>H | No |
ClinGen gnomAD |
|
|
rs1238898437 CA363961789 |
193 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3837577 rs758571411 |
194 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs138769310 CA3837575 |
195 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138769310 CA138565138 |
195 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1402291238 CA363961767 |
197 | N>H | No |
ClinGen gnomAD |
|
|
rs972133613 CA363961761 COSM166772 |
197 | N>K | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1360871167 CA363961763 |
197 | N>T | No |
ClinGen gnomAD |
|
|
rs17853843 CA138565136 |
198 | N>W | No |
ClinGen Ensembl |
No associated diseases with Q14206
1 regional properties for Q14206
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Calcipressin-2, RNA recognition motif | 11 - 87 | IPR034919 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium-dependent protein serine/threonine phosphatase regulator activity | Binds to and modulates of the activity of the enzyme calcium-dependent protein serine/threonine phosphatase. |
| nucleic acid binding | Binding to a nucleic acid. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| calcium-mediated signaling | Any intracellular signal transduction in which the signal is passed on within the cell via calcium ions. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P36054 | RCN1 | Calcipressin-like protein | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q2KIA1 | RCAN3 | Calcipressin-3 | Bos taurus (Bovine) | PR |
| Q3ZC15 | RCAN2 | Calcipressin-2 | Bos taurus (Bovine) | PR |
| Q5ZJV6 | RCAN3 | Calcipressin-3 | Gallus gallus (Chicken) | PR |
| A5A6I8 | RCAN2 | Calcipressin-2 | Pan troglodytes (Chimpanzee) | PR |
| Q9UKA8 | RCAN3 | Calcipressin-3 | Homo sapiens (Human) | PR |
| Q9JKK0 | Rcan3 | Calcipressin-3 | Mus musculus (Mouse) | PR |
| Q9JHG2 | Rcan2 | Calcipressin-2 | Mus musculus (Mouse) | PR |
| Q8CH27 | Rcan2 | Calcipressin-2 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPAPSMDCDV | STLVACVVDV | EVFTNQEVKE | KFEGLFRTYD | DCVTFQLFKS | FRRVRINFSN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PKSAARARIE | LHETQFRGKK | LKLYFAQVQT | PETDGDKLHL | APPQPAKQFL | ISPPSSPPVG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| WQPINDATPV | LNYDLLYAVA | KLGPGEKYEL | HAGTESTPSV | VVHVCDSDIE | EEEDPKTSPK |
| 190 | |||||
| PKIIQTRRPG | LPPSVSN |