| Type | Description |
|---|---|
| Definition | spermatogenesis associated 5 |
| Date | Results | Publications |
|---|---|---|
| 2017-09-16 11:03:00 | defects may account for a fraction of isolated sensorineural hearing impairment cases. | 28293831 |
| 2017-07-01 10:06:00 | Clinical delineation of the encephalopathy should improve diagnosis, facilitating further clinical and molecular investigation | 27246907 |
| 2015-12-12 11:36:00 | Mutations in Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. | 26299366 |
| 2012-06-16 12:31:00 | locus is a new susceptibility locus for Alopecia areata (AA). | 22027810 |
| 2010-06-30 22:06:00 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | 20379614 |
| Type | IDs |
|---|---|
| Synonymous | AFG2, EHLMRS, SPAF |
| Gene |
UniProtKB-ID:
AFG2H_HUMAN
UniprotKB:
Q8NB90
UniParc:
UPI000013F513,
UPI000013D9E6,
UPI000020B41E
EMBL:
AK091384,
AC109357,
AF361489,
AC026402,
BC048217,
AC021205,
AF479656,
AC097492
Ensembl:
ENSG00000145375
KO:
hsa:166378
|
| Nucleutide sequences |
EMBL-CDS:
AAM43608.1,
AAH48217.1,
AAM00262.1,
BAC03651.1
Ensembl_TRS:
ENST00000274008
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000274008
RefSeq:
XP_011529981.1,
XP_016863317.1,
NP_001332785.1,
XP_016863319.1,
XP_011529980.1,
XP_016863318.1,
NP_001304728.1,
XP_016863315.1,
NP_660208.2,
XP_016863316.1,
XP_016863314.1
|
| Others |
UniRef100:
UniRef100_Q8NB90
UniRef90:
UniRef90_Q8NB90
UniRef50:
UniRef50_Q8NB90
UniGene:
Hs.709648
CCDS:
CCDS3730.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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