Q5JX69
PR
Gene name |
FAM209B |
Protein name |
Protein FAM209B |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:388799 |
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 Q5JX69
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5JX69-F1 | Predicted | AlphaFoldDB |
148 variants for Q5JX69
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA9919046 rs746274558 |
3 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA409403216 rs1284454057 |
4 | L>P | No |
ClinGen gnomAD |
|
|
CA9919050 rs140276541 |
6 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9919049 rs140276541 |
6 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs532541376 CA9919054 |
11 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA409403254 rs1462876059 |
11 | L>P | No |
ClinGen TOPMed |
|
|
rs1600853871 CA409403259 |
12 | L>P | No |
ClinGen Ensembl |
|
|
CA9919057 rs752324474 |
14 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA316187264 rs752324474 |
14 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270052191 CA409403274 |
15 | T>A | No |
ClinGen gnomAD |
|
|
rs1270052191 CA409403275 |
15 | T>P | No |
ClinGen gnomAD |
|
|
CA409403282 rs1363257940 |
16 | C>Y | No |
ClinGen gnomAD |
|
|
rs1426099062 CA409403288 |
17 | S>G | No |
ClinGen TOPMed |
|
|
CA9919059 rs552367720 |
17 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs143791667 CA9919060 |
18 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA409403302 rs1181558532 |
19 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 19 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 21 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779629978 CA9919063 |
23 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 24 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1241353759 CA409403346 |
25 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 27 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs538531492 CA9919064 |
29 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9919065 rs367862584 |
30 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1469304899 CA409403383 |
31 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA316187375 rs995736902 |
33 | Q>H | No |
ClinGen TOPMed |
|
|
rs910526081 CA316187370 |
33 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs866156522 CA316187403 |
34 | G>E | No |
ClinGen Ensembl |
|
|
rs768784055 CA9919068 |
34 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 35 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399237914 CA409403411 |
35 | K>R | No |
ClinGen gnomAD |
|
|
CA409403424 rs200150839 |
37 | P>L | No |
ClinGen 1000Genomes TOPMed |
|
|
CA316187417 rs200150839 |
37 | P>Q | No |
ClinGen 1000Genomes TOPMed |
|
|
rs386815438 CA316187415 |
37 | P>QY | No |
ClinGen Ensembl |
|
|
rs1281863533 CA409403427 |
38 | C>R | No |
ClinGen gnomAD |
|
|
rs201542308 CA316187471 |
38 | C>Y | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1377158021 CA409403433 |
39 | G>R | No |
ClinGen gnomAD |
|
|
CA409403443 rs1283444839 |
40 | E>G | No |
ClinGen gnomAD |
|
|
CA409403450 rs1395875851 |
41 | H>P | No |
ClinGen TOPMed |
|
|
rs1037715196 CA409403463 |
43 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs192848959 CA316187501 COSM1028304 |
43 | R>Q | endometrium Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA gnomAD |
|
rs1037715196 CA316187487 |
43 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1283147315 CA409403470 |
44 | I>T | No |
ClinGen gnomAD |
|
|
CA9919076 rs767257301 COSM1028305 |
45 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9919075 rs759472197 |
45 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA409403480 rs1480101250 |
46 | Q>R | No |
ClinGen gnomAD |
|
|
rs141117316 CA316187517 |
47 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139462653 CA9919078 |
47 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA409403493 rs1304160457 |
48 | L>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 49 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9919081 rs756884049 |
49 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1421848670 CA409403501 |
50 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA409403512 rs1365505315 |
51 | H>R | No |
ClinGen gnomAD |
|
|
rs895679395 CA316187552 |
52 | T>A | No |
ClinGen Ensembl |
|
|
rs556397486 CA409403519 |
52 | T>I | No |
ClinGen 1000Genomes gnomAD |
|
|
rs556397486 CA316187587 |
52 | T>N | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1303207076 CA409403522 |
53 | Q>E | No |
ClinGen gnomAD |
|
|
rs1469634427 CA409403531 |
54 | G>D | No |
ClinGen TOPMed |
|
|
CA409403528 rs1332270931 |
54 | G>S | No |
ClinGen gnomAD |
|
|
CA409403539 rs1236293987 |
55 | W>* | No |
ClinGen gnomAD |
|
|
CA409403553 rs764851087 |
57 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA9919082 rs764851087 |
57 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs759005976 CA409403569 |
59 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273783264 CA409403566 |
59 | K>R | No |
ClinGen TOPMed |
|
|
CA9919085 rs780418930 |
61 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs747386102 CA9919086 |
62 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1014907226 CA316187608 |
63 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs202232100 CA316187610 |
63 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
CA9919088 rs781339391 |
64 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368304173 CA9919089 |
66 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 67 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs960791235 CA316187631 |
67 | V>I | No |
ClinGen TOPMed |
|
|
rs960791235 CA409403615 |
67 | V>L | No |
ClinGen TOPMed |
|
|
CA9919091 rs773307306 |
69 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA409403626 rs1162025304 |
69 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9919093 rs146728602 |
70 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409403646 rs1306601698 |
72 | I>V | No |
ClinGen gnomAD |
|
|
rs1600854174 CA409403652 |
73 | L>V | No |
ClinGen Ensembl |
|
|
CA409403657 rs3209183 |
74 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs3209183 VAR_050918 CA9919094 |
74 | Q>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA409403658 rs1389116615 |
74 | Q>R | No |
ClinGen gnomAD |
|
|
CA9919095 rs760452957 |
75 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA409403665 rs1376187727 |
75 | C>Y | No |
ClinGen TOPMed |
|
|
CA316187691 rs1031388128 COSM3363324 |
76 | Q>H | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs542100882 CA9919097 |
79 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1201243803 CA409403697 |
79 | S>R | No |
ClinGen TOPMed |
|
|
rs776087915 CA9919098 |
82 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1267087860 CA409403718 |
82 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 84 | E>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs61440263 VAR_061633 CA9919120 |
84 | E>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1216822885 CA409403931 |
87 | P>L | No |
ClinGen TOPMed |
|
|
CA9919121 rs772818497 |
88 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs567136306 CA9919122 |
90 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9919123 rs200395408 |
91 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs59578783 CA9919124 |
91 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs59578783 CA409403949 |
91 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs760116795 CA9919125 |
92 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456772236 CA409403951 |
92 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9919127 rs147485907 |
96 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9919129 rs374650237 COSM274260 |
96 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs374650237 CA9919128 |
96 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs2296128 CA409403993 |
99 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA409403994 rs2296128 |
99 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9919133 rs779054130 |
101 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9919134 rs746883060 |
102 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9919136 rs768663138 |
103 | Q>K | No |
ClinGen ExAC TOPMed |
|
|
CA409404040 rs1342307127 |
105 | A>V | No |
ClinGen gnomAD |
|
|
CA9919137 rs781113018 |
109 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA409404077 rs1312960388 |
111 | C>R | No |
ClinGen gnomAD |
|
|
rs1334731494 CA409404087 |
112 | V>A | No |
ClinGen Ensembl |
|
|
rs747997712 CA9919139 |
114 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9919141 rs769570033 |
115 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs769570033 CA9919140 |
115 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA409404131 rs1452936248 CA409404130 |
118 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9919146 COSM1198527 rs759935728 |
118 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs768105118 CA9919147 |
119 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA9919148 rs753052385 |
120 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1177739638 CA409404154 |
122 | E>G | No |
ClinGen gnomAD |
|
|
rs1361711485 CA409404163 |
123 | L>R | No |
ClinGen gnomAD |
|
|
rs1054676658 CA316190205 |
124 | L>F | No |
ClinGen Ensembl |
|
|
rs914827576 CA316190210 |
126 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9919149 rs2296129 VAR_033762 |
129 | E>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA316190230 rs946318958 |
129 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA409404197 rs946318958 |
129 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs183369705 CA9919151 |
131 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757528635 COSM1028307 CA9919153 |
133 | L>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs61734533 CA9919154 |
135 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750566716 CA9919155 |
137 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1308435250 CA409404252 |
137 | M>T | No |
ClinGen TOPMed |
|
|
rs780628853 CA9919156 |
139 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489997200 CA409404267 |
140 | G>S | No |
ClinGen gnomAD |
|
|
rs781346128 CA9919157 |
142 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA409404345 rs1328866023 |
146 | K>R | No |
ClinGen TOPMed |
|
|
CA409404356 rs1192441862 |
147 | L>F | No |
ClinGen gnomAD |
|
|
rs777718902 CA9919161 |
148 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs146242041 CA9919162 |
149 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 152 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377729703 CA9919164 |
153 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1445616916 CA409404462 |
156 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA409404502 rs1380288333 |
158 | H>R | No |
ClinGen TOPMed |
|
|
rs772553858 CA409404541 |
161 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs775917476 CA9919167 |
161 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772553858 CA9919166 |
161 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs761172925 CA9919168 |
163 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535302389 CA316190396 |
163 | K>R | No |
ClinGen Ensembl |
|
|
rs1296594585 CA409404595 |
165 | W>R | No |
ClinGen gnomAD |
|
|
CA409404613 rs1292250036 |
166 | G>E | No |
ClinGen TOPMed |
|
|
rs1258579855 CA409404653 |
169 | S>T | No |
ClinGen gnomAD |
No associated diseases with Q5JX69
No regional properties for Q5JX69
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q5JX69 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| nuclear inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the nuclear envelope. |
| 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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5JX71 | FAM209A | Protein FAM209A | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MWTLKSSLVL | LLCLTCSYAF | MFSSLRQKTS | EPQGKVPCGE | HFRIRQNLPE | HTQGWLGSKW |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LWLLFAVVPF | VILQCQRDSE | KNKEQSPPGL | RGFPFRTPLK | KNQNASLYKD | CVFNTLNELE |
| 130 | 140 | 150 | 160 | 170 | |
| VELLKFVSEV | QNLKGAMATG | SGSNLKLRRS | EMPADPYHVT | ICKIWGEESS | S |