PTPRH
protein tyrosine phosphatase receptor type H
Summary
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. The extracellular region contains eight fibronectin type III-like repeats and multiple N-glycosylation sites. The gene was shown to be expressed primarily in brain and liver, and at a lower level in heart and stomach. It was also found to be expressed in several cancer cell lines, but not in the corresponding normal tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]
Known Variants92 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs17458 | 19:55,693,015 | C/T | upstream gene variant | — |
| rs2288420 | 19:55,693,123 | T/C | synonymous variant | — |
| rs202214252 | 19:55,693,214 | C/A | — | uncertain significance |
| rs140496718 | 19:55,693,262 | C/T | — | uncertain significance |
| rs45607834 | 19:55,693,286 | C/T | upstream gene variant | — |
| rs145661468 | 19:55,693,406 | C/T | — | uncertain significance |
| rs1373387300 | 19:55,693,408 | A/C | — | uncertain significance |
| rs758951449 | 19:55,693,457 | G/A | — | uncertain significance |
| rs45510996 | 19:55,693,470 | G/A | — | uncertain significance |
| rs200855701 | 19:55,693,491 | T/C | — | uncertain significance |
| rs376054614 | 19:55,693,505 | C/G | — | uncertain significance |
| rs147426903 | 19:55,696,895 | C/T | — | uncertain significance |
| rs889753209 | 19:55,696,900 | A/C | — | uncertain significance |
| rs778668100 | 19:55,696,910 | C/T | — | uncertain significance |
| rs143413811 | 19:55,696,970 | C/T | — | uncertain significance |
| rs1340137742 | 19:55,697,276 | T/A | — | uncertain significance |
| rs150594420 | 19:55,697,301 | G/A | — | uncertain significance |
| rs750469902 | 19:55,697,711 | T/C | — | likely benign |
| rs147881000 | 19:55,697,712 | G/A | stop gained | Uncertain significance |
| rs200493695 | 19:55,697,718 | T/C | — | uncertain significance |
| rs140285575 | 19:55,697,867 | G/A | — | uncertain significance |
| rs1215887834 | 19:55,697,882 | G/A | — | uncertain significance |
| rs4806469 | 19:55,698,245 | G/T | — | — |
| rs2365729 | 19:55,698,489 | A/G | intron variant | — |
| rs2886444 | 19:55,698,496 | A/T | — | — |
| rs2365731 | 19:55,698,509 | C/T | — | — |
| rs769936402 | 19:55,698,895 | C/A | — | uncertain significance |
| rs773462072 | 19:55,698,928 | G/A | — | uncertain significance |
| rs374566236 | 19:55,699,505 | C/T | — | uncertain significance |
| rs765603936 | 19:55,699,516 | G/T | — | uncertain significance |
| rs759735659 | 19:55,702,906 | T/G | — | uncertain significance |
| rs190080254 | 19:55,703,026 | C/T | splice region variant | — |
| rs61704307 | 19:55,706,996 | A/T | — | — |
| rs751913613 | 19:55,707,938 | C/T | — | uncertain significance |
| rs138080428 | 19:55,707,952 | G/A | — | uncertain significance |
| rs763083824 | 19:55,708,001 | C/T | — | uncertain significance |
| rs374140224 | 19:55,708,005 | C/A | — | uncertain significance |
| rs368324569 | 19:55,708,036 | C/T | — | likely benign |
| rs73619559 | 19:55,708,037 | G/A | — | uncertain significance |
| rs775711179 | 19:55,708,058 | C/G | — | uncertain significance |
| rs764109925 | 19:55,708,067 | C/T | — | uncertain significance |
| rs145506747 | 19:55,708,111 | C/A | — | uncertain significance |
| rs746257792 | 19:55,708,494 | C/T | — | uncertain significance |
| rs758059235 | 19:55,708,643 | C/T | — | likely benign |
| rs139889051 | 19:55,708,652 | G/A | — | uncertain significance |
| rs1257199107 | 19:55,708,683 | A/G | — | uncertain significance |
| rs767906531 | 19:55,708,709 | C/G | — | likely benign |
| rs142155535 | 19:55,708,716 | C/T | — | uncertain significance |
| rs1344198625 | 19:55,708,731 | T/C | — | uncertain significance |
| rs745530200 | 19:55,708,746 | T/C | — | uncertain significance |
| rs199733934 | 19:55,708,748 | T/C | — | uncertain significance |
| rs756339907 | 19:55,708,765 | A/T | — | uncertain significance |
| rs536966825 | 19:55,710,020 | C/T | — | uncertain significance |
| rs767788257 | 19:55,710,115 | T/C | — | uncertain significance |
| rs2086767607 | 19:55,710,173 | C/T | — | uncertain significance |
| rs138620016 | 19:55,710,278 | G/A | — | uncertain significance |
| rs1426265560 | 19:55,711,628 | T/C | — | uncertain significance |
| rs202145164 | 19:55,711,700 | C/T | — | uncertain significance |
| rs752816726 | 19:55,711,739 | C/T | — | uncertain significance |
| rs760246867 | 19:55,711,817 | C/T | — | likely benign |
| rs144851892 | 19:55,711,864 | T/C | — | uncertain significance |
| rs774328048 | 19:55,713,448 | G/A | — | uncertain significance |
| rs140867659 | 19:55,713,514 | T/C | — | likely benign |
| rs10416122 | 19:55,713,614 | G/A | — | likely benign |
| rs201141668 | 19:55,713,636 | G/A | — | uncertain significance |
| rs777606083 | 19:55,713,639 | A/G | — | uncertain significance |
| rs140788530 | 19:55,713,661 | C/G | — | uncertain significance |
| rs772757360 | 19:55,715,228 | C/T | — | uncertain significance |
| rs747500990 | 19:55,715,287 | C/A | — | uncertain significance |
| rs752959179 | 19:55,715,330 | G/A | — | uncertain significance |
| rs758604208 | 19:55,715,335 | G/A | — | uncertain significance |
| rs752147383 | 19:55,715,336 | T/G | — | likely benign |
| rs2515888196 | 19:55,715,383 | G/A | — | uncertain significance |
| rs149789995 | 19:55,716,713 | C/A | — | uncertain significance |
| rs543450987 | 19:55,716,718 | G/A | — | uncertain significance |
| rs146515465 | 19:55,716,759 | G/A | — | likely benign |
| rs374052411 | 19:55,716,850 | C/T | — | uncertain significance |
| rs1175090371 | 19:55,716,883 | C/T | — | uncertain significance |
| rs760364532 | 19:55,716,936 | C/G | — | likely benign |
| rs369131061 | 19:55,716,945 | C/T | — | uncertain significance |
| rs1231943872 | 19:55,718,096 | C/T | — | uncertain significance |
| rs141431719 | 19:55,718,103 | C/G | — | uncertain significance |
| rs139039095 | 19:55,718,123 | T/G | — | uncertain significance |
| rs772550690 | 19:55,718,159 | C/T | — | uncertain significance |
| rs145987098 | 19:55,718,182 | G/A | — | uncertain significance |
| rs373696276 | 19:55,718,249 | C/T | — | uncertain significance |
| rs376282534 | 19:55,718,299 | G/C | — | likely benign |
| rs558088945 | 19:55,718,316 | G/T | — | uncertain significance |
| rs575181510 | 19:55,718,317 | T/C | — | uncertain significance |
| rs371476876 | 19:55,718,539 | G/A | — | uncertain significance |
| rs200923281 | 19:55,718,560 | C/T | — | uncertain significance |
| rs1158550744 | 19:55,720,777 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.