| Type | Description |
|---|---|
| Definition | histidyl-tRNA synthetase 2, mitochondrial |
| Date | Results | Publications |
|---|---|---|
| 2020-11-21 13:29:00 | Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome. | 31449985 |
| 2020-10-10 12:57:00 | A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families. | 31827252 |
| 2020-09-05 13:58:00 | Overexpression of mitochondrial histidyl-tRNA synthetase restores mitochondrial dysfunction caused by a deafness-associated tRNA(His) mutation. | 31819004 |
| 2011-06-18 10:35:00 | Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. | 21464306 |
| 2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 20877624 |
| Type | IDs |
|---|---|
| Synonymous | HARSL, HARSR, HO3, HisRS, PRLTS2 |
| Gene |
UniProtKB-ID:
SYHM_HUMAN,
A0A2R8Y6I1_HUMAN,
B4DDN8_HUMAN
UniprotKB:
P49590,
A0A2R8Y6I1,
B4DDN8
UniParc:
UPI00001364C4,
UPI00017A6D62,
UPI0007DB9031,
UPI0000EE34B3
EMBL:
AK293390,
AK293269,
BC007680,
U18936,
CH471062,
BC014982,
U18937,
AC116353
Ensembl:
ENSG00000112855
KO:
hsa:23438
|
| Nucleutide sequences |
EMBL-CDS:
AAH14982.1,
AAA73972.1,
EAW62019.1,
AAA73974.1,
AAH07680.1,
BAG56899.1,
BAG56799.1
Ensembl_TRS:
ENST00000645749,
ENST00000230771,
ENST00000508522,
ENST00000642970,
ENST00000643996
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000230771,
ENSP00000423616,
ENSP00000494296,
ENSP00000496011,
ENSP00000495350
RefSeq:
NP_001265661.1,
NP_001265660.1,
NP_001350465.1,
NP_001350464.1,
NP_036340.1
|
| Others |
UniRef100:
UniRef100_B4DDN8,
UniRef100_A0A2R8Y5P7,
UniRef100_P49590
UniRef90:
UniRef90_P49590,
UniRef90_A0A5F4VRA1
UniRef50:
UniRef50_P49590,
UniRef50_A0A2K5MPK5
UniGene:
Hs.432560
CCDS:
CCDS64267.1,
CCDS4238.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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