PMS1 homolog 2, mismatch repair system component [Source:HGNC Symbol;Acc:HGNC:9122]
HNPCC4, H_DJ0042M02.9, MLH4, PMS-2, PMSL2
Chromosome 7: 5,970,925-6,009,130 reverse strand.
GRCh38:CM000669.2
This gene has 71 transcripts (splice variants), 209 orthologues, 3 paralogues and is associated with 73 phenotypes.
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000265849.12 | PMS2-201 | 5093 | 862aa | ENSP00000265849.7 | Protein coding | CCDS5343 | P54278-1 | NM_000535.7 | MANE Select, Ensembl Canonical, GENCODE basic, APPRIS P2, TSL:1, |
ENST00000699818.1 | PMS2-235 | 5253 | 727aa | ENSP00000514619.1 | Protein coding | CCDS87474 | A0A2R8Y6S3 | - | GENCODE basic, |
ENST00000699811.1 | PMS2-229 | 5246 | 727aa | ENSP00000514614.1 | Protein coding | CCDS87474 | A0A2R8Y6S3 | - | GENCODE basic, |
ENST00000699766.1 | PMS2-224 | 5167 | 873aa | ENSP00000514574.1 | Protein coding | CCDS94052 | A0A8V8TQ50 | - | GENCODE basic, |
ENST00000699821.1 | PMS2-238 | 5145 | 738aa | ENSP00000514622.1 | Protein coding | CCDS94050 | A0A8V8TQ92 | - | GENCODE basic, |
ENST00000699761.1 | PMS2-219 | 5053 | 727aa | ENSP00000514569.1 | Protein coding | CCDS87474 | A0A2R8Y6S3 | - | GENCODE basic, |
ENST00000699930.2 | PMS2-263 | 5035 | 826aa | ENSP00000514695.2 | Protein coding | A0A8V8TQS5 | - | GENCODE basic, | |
ENST00000699768.1 | PMS2-226 | 4990 | 814aa | ENSP00000514576.1 | Protein coding | A0A8V8TQI1 | - | GENCODE basic, | |
ENST00000699762.1 | PMS2-220 | 4940 | 671aa | ENSP00000514570.1 | Protein coding | CCDS94048 | A0A8V8TP84 | - | GENCODE basic, |
ENST00000699752.1 | PMS2-210 | 4907 | 810aa | ENSP00000514561.1 | Protein coding | CCDS94051 | A0A8V8TQG9 | - | GENCODE basic, |
ENST00000699754.1 | PMS2-212 | 4880 | 796aa | ENSP00000514563.1 | Protein coding | A0A8V8TNY8 | - | GENCODE basic, | |
ENST00000699760.1 | PMS2-218 | 4867 | 756aa | ENSP00000514568.1 | Protein coding | CCDS83155 | C9J167 | - | GENCODE basic, |
ENST00000699839.1 | PMS2-254 | 3597 | 924aa | ENSP00000514637.1 | Protein coding | A0A8V8TNX6 | - | GENCODE basic, APPRIS ALT2, | |
ENST00000699840.2 | PMS2-255 | 2812 | 861aa | ENSP00000514638.2 | Protein coding | A0A8V8TP72 | - | GENCODE basic, APPRIS ALT2, | |
ENST00000642456.1 | PMS2-207 | 2765 | 727aa | ENSP00000493814.1 | Protein coding | CCDS87474 | A0A2R8Y6S3 | - | GENCODE basic, |
ENST00000699837.1 | PMS2-252 | 2684 | 727aa | ENSP00000514635.1 | Protein coding | CCDS87474 | A0A2R8Y6S3 | - | GENCODE basic, |
ENST00000642292.1 | PMS2-206 | 2679 | 727aa | ENSP00000495524.1 | Protein coding | CCDS87474 | A0A2R8Y6S3 | - | GENCODE basic, |
ENST00000699827.1 | PMS2-244 | 2659 | 806aa | ENSP00000514628.1 | Protein coding | A0A8V8TPE1 | - | GENCODE basic, | |
ENST00000699825.1 | PMS2-242 | 2642 | 675aa | ENSP00000514626.1 | Protein coding | CCDS94049 | A0A8V8TP61 | - | GENCODE basic, |
ENST00000699823.1 | PMS2-240 | 2599 | 727aa | ENSP00000514624.1 | Protein coding | CCDS87474 | A0A2R8Y6S3 | - | GENCODE basic, |
ENST00000382321.5 | PMS2-202 | 1386 | 461aa | ENSP00000371758.4 | Protein coding | P54278-2 | - | GENCODE basic, TSL:1, | |
ENST00000699952.1 | PMS2-268 | 1185 | 267aa | ENSP00000514707.1 | Protein coding | A0A8V8TQT4 | - | GENCODE basic, | |
ENST00000699816.1 | PMS2-233 | 5400 | 247aa | ENSP00000514617.1 | Nonsense mediated decay | A0A8V8TQ88 | - | - | |
ENST00000699763.1 | PMS2-221 | 5230 | 208aa | ENSP00000514571.1 | Nonsense mediated decay | A0A8V8TQH7 | - | - | |
ENST00000699815.1 | PMS2-232 | 5201 | 72aa | ENSP00000514616.1 | Nonsense mediated decay | A0A8V8TNX1 | - | - | |
ENST00000699819.1 | PMS2-236 | 5104 | 91aa | ENSP00000514620.1 | Nonsense mediated decay | A0A8V8TNW1 | - | - | |
ENST00000699767.1 | PMS2-225 | 5091 | 771aa | ENSP00000514575.1 | Nonsense mediated decay | A0A8V8TP89 | - | - | |
ENST00000699753.1 | PMS2-211 | 5040 | 47aa | ENSP00000514562.1 | Nonsense mediated decay | A0A8V8TNQ7 | - | - | |
ENST00000699756.1 | PMS2-214 | 5034 | 119aa | ENSP00000514565.1 | Nonsense mediated decay | A0A8V8TP79 | - | - | |
ENST00000699755.1 | PMS2-213 | 5033 | 48aa | ENSP00000514564.1 | Nonsense mediated decay | A0A8V8TQ41 | - | - | |
ENST00000699764.1 | PMS2-222 | 4996 | 530aa | ENSP00000514572.1 | Nonsense mediated decay | A0A8V8TNR7 | - | - | |
ENST00000699817.1 | PMS2-234 | 4873 | 71aa | ENSP00000514618.1 | Nonsense mediated decay | A0A8V8TPD1 | - | - | |
ENST00000699758.1 | PMS2-216 | 4811 | 151aa | ENSP00000514567.1 | Nonsense mediated decay | A0A8V8TNR3 | - | - | |
ENST00000699765.1 | PMS2-223 | 4787 | 161aa | ENSP00000514573.1 | Nonsense mediated decay | A0A8V8TNZ8 | - | - | |
ENST00000699814.2 | PMS2-231 | 4762 | 100aa | ENSP00000514615.2 | Nonsense mediated decay | A0A8V8TNV6 | - | - | |
ENST00000699757.1 | PMS2-215 | 4757 | 63aa | ENSP00000514566.1 | Nonsense mediated decay | A0A8V8TQH3 | - | - | |
ENST00000699820.1 | PMS2-237 | 4280 | 399aa | ENSP00000514621.1 | Nonsense mediated decay | A0A8V8TP55 | - | - | |
ENST00000699920.1 | PMS2-260 | 3686 | 207aa | ENSP00000514688.1 | Nonsense mediated decay | A0A8V8TPJ6 | - | - | |
ENST00000699919.1 | PMS2-259 | 3637 | 207aa | ENSP00000514687.1 | Nonsense mediated decay | A0A8V8TPJ6 | - | - | |
ENST00000699918.1 | PMS2-258 | 3551 | 207aa | ENSP00000514686.1 | Nonsense mediated decay | A0A8V8TPJ6 | - | - | |
ENST00000699838.1 | PMS2-253 | 3542 | 88aa | ENSP00000514636.1 | Nonsense mediated decay | A0A8V8TQN0 | - | - | |
ENST00000699917.1 | PMS2-257 | 3499 | 207aa | ENSP00000514685.1 | Nonsense mediated decay | A0A8V8TPJ6 | - | - | |
ENST00000699916.1 | PMS2-256 | 3341 | 96aa | ENSP00000514684.1 | Nonsense mediated decay | A0A8V8TQR6 | - | - | |
ENST00000699828.1 | PMS2-245 | 2974 | 343aa | ENSP00000514629.1 | Nonsense mediated decay | A0A8V8TQM5 | - | - | |
ENST00000699824.1 | PMS2-241 | 2919 | 207aa | ENSP00000514625.1 | Nonsense mediated decay | A0A8V8TPJ6 | - | - | |
ENST00000699822.1 | PMS2-239 | 2830 | 72aa | ENSP00000514623.1 | Nonsense mediated decay | A0A8V8TNX1 | - | - | |
ENST00000699928.1 | PMS2-261 | 2728 | 347aa | ENSP00000514693.1 | Nonsense mediated decay | A0A8V8TPK2 | - | - | |
ENST00000699951.1 | PMS2-267 | 2684 | 267aa | ENSP00000514706.1 | Nonsense mediated decay | A0A8V8TQT4 | - | - | |
ENST00000699826.1 | PMS2-243 | 2623 | 48aa | ENSP00000514627.1 | Nonsense mediated decay | A0A8V8TQ41 | - | - | |
ENST00000643595.1 | PMS2-208 | 2600 | 183aa | ENSP00000494497.1 | Nonsense mediated decay | P54278-4 | - | - | |
ENST00000644110.2 | PMS2-209 | 2509 | 100aa | ENSP00000496392.2 | Nonsense mediated decay | A0A2R8Y814 | - | - | |
ENST00000406569.8 | PMS2-203 | 2101 | 572aa | ENSP00000514464.1 | Nonsense mediated decay | P54278-3 | - | TSL:1, | |
ENST00000699953.1 | PMS2-269 | 1806 | 264aa | ENSP00000514708.1 | Nonsense mediated decay | A0A8V8TPE7 | - | - | |
ENST00000699929.1 | PMS2-262 | 1757 | 183aa | ENSP00000514694.1 | Nonsense mediated decay | P54278-4 | - | - | |
ENST00000699954.1 | PMS2-270 | 1754 | 182aa | ENSP00000514709.1 | Nonsense mediated decay | A0A8V8TP66 | - | - | |
ENST00000699932.1 | PMS2-265 | 1341 | 267aa | ENSP00000514696.1 | Nonsense mediated decay | A0A8V8TQT4 | - | - | |
ENST00000699829.1 | PMS2-246 | 1329 | 72aa | ENSP00000514630.1 | Nonsense mediated decay | A0A8V8TNX1 | - | - | |
ENST00000699830.1 | PMS2-247 | 1293 | 182aa | ENSP00000514631.1 | Nonsense mediated decay | A0A8V8TP66 | - | - | |
ENST00000699759.1 | PMS2-217 | 5887 | No protein | - | Protein coding CDS not defined | - | - | - | |
ENST00000699931.1 | PMS2-264 | 3252 | No protein | - | Protein coding CDS not defined | - | - | - | |
ENST00000699834.1 | PMS2-251 | 1255 | No protein | - | Protein coding CDS not defined | - | - | - | |
ENST00000469652.1 | PMS2-205 | 93 | No protein | - | Protein coding CDS not defined | - | - | TSL:1, | |
ENST00000699833.1 | PMS2-250 | 6805 | No protein | - | Retained intron | - | - | - | |
ENST00000699813.1 | PMS2-230 | 5146 | No protein | - | Retained intron | - | - | - | |
ENST00000699831.1 | PMS2-248 | 1426 | No protein | - | Retained intron | - | - | - | |
ENST00000699832.1 | PMS2-249 | 1401 | No protein | - | Retained intron | - | - | - | |
ENST00000703409.1 | PMS2-271 | 1228 | No protein | - | Retained intron | - | - | - | |
ENST00000699933.1 | PMS2-266 | 1220 | No protein | - | Retained intron | - | - | - | |
ENST00000699769.1 | PMS2-227 | 1182 | No protein | - | Retained intron | - | - | - | |
ENST00000415839.3 | PMS2-204 | 749 | No protein | - | Retained intron | - | - | TSL:5, | |
ENST00000699770.1 | PMS2-228 | 561 | No protein | - | Retained intron | - | - | - |