| Type | Description |
|---|---|
| Definition | HYDIN axonemal central pair apparatus protein |
| Date | Results | Publications |
|---|---|---|
| 2020-08-01 12:01:00 | 41 of the 189 individuals with primary ciliary dyskinesia and situs inversus had undetectable SPEF2 and were subjected to a genetic analysis, which revealed one novel loss-of-function mutation in SPEF2 and three reported and 13 novel HYDIN mutations in 15 individuals. The remaining 25 individuals are good candidates for new, as-yet uncharacterized PCD variants that affect the CP apparatus. | 31545650 |
| 2020-02-15 10:18:00 | A novel homozygous nonsense HYDIN mutation in two siblings with Primary Ciliary Dyskinesia having clinical phenotype of neonatal respiratory distress, early onset persistent wet cough/nasal discharge, and consistently abnormal High speed video microscopy. | 31089940 |
| 2018-09-08 10:21:00 | Three loci with high mutation frequencies, the 138665410 FOXL2 gene variant, the 23862952 MYH6 gene variant, and the 71098693 HYDIN gene variant were found to be significantly associated with sporadic Atrial Septal Defect (P<0.05); variants in FOXL2 and MYH6 were found in patients with isolated, sporadic Atrial Septal Defect (P<5x10-4). | 29505555 |
| 2015-07-25 11:26:00 | The results suggest frequent and coordinated adaptive immune responses against HYDIN variants in patients with cancer. | 24777681 |
| 2010-06-30 22:05:00 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | 20379614 |
| Type | IDs |
|---|---|
| Synonymous | CILD5, HYDIN1, HYDIN2, PPP1R31 |
| Gene |
UniProtKB-ID:
HYDIN_HUMAN
UniprotKB:
Q4G0P3
UniParc:
UPI00001AF30D,
UPI0001FEF4F9,
UPI00017A7A00,
UPI000047DBB1,
UPI0001E6F5BC,
UPI00004896AE
EMBL:
AC099495,
AC027281,
AL133042,
AC138625,
AL122038,
AL137259,
AK299016,
BC043273,
AK299348,
AK026688,
BC028351,
AK022933
Ensembl:
ENSG00000157423,
ENSG00000283022
KO:
hsa:54768
|
| Nucleutide sequences |
EMBL-CDS:
CAB70660.1,
BAG61346.1,
BAB15527.1,
BAB14314.1,
CAB59178.1,
BAG61096.1,
AAH43273.1,
AAH28351.2,
CAB61370.1
Ensembl_TRS:
ENST00000634392,
ENST00000634268,
ENST00000541601,
ENST00000634745,
ENST00000538248,
ENST00000321489,
ENST00000635381,
ENST00000393567
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000314736,
ENSP00000489221,
ENSP00000377197,
ENSP00000437341,
ENSP00000489526,
ENSP00000489246,
ENSP00000444970,
ENSP00000489181
RefSeq:
XP_011521448.1,
XP_011521449.1,
XP_011521454.1,
XP_016878837.1,
NP_001185472.1,
NP_001257903.1,
NP_060028.2,
XP_011521457.1,
XP_011521453.1,
XP_011521450.1,
XP_016878836.1,
NP_001185471.1,
XP_006721269.1,
XP_016878835.1
|
| Others |
UniRef100:
UniRef100_Q4G0P3
UniRef90:
UniRef90_Q4G0P3
UniRef50:
UniRef50_Q4G0P3
UniGene:
Hs.461229,
Hs.744828,
Hs.745353
CCDS:
CCDS56005.1,
CCDS56004.1,
CCDS59269.1,
CCDS10897.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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