| Type | Description |
|---|---|
| Definition | TBC1 domain family member 32 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-02 13:23:00 | Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism. | 32060556 |
| 2014-08-09 11:38:00 | study identified 2 cases with a severe ciliopathy phenotype consistent with oro-facio-digital syndrome type IX; the autozygome of each index harbored a single truncating variant and the affected genes (SCLT1 and TBC1D32/C6orf170) have roles in centrosomal biology and ciliogenesis; findings suggest a role of SCLT1 and TBC1D32 in ciliopathy pathogenesis | 24285566 |
| 2014-07-15 13:57:00 | Studies in mouse and zebrafish implicate that TBC1D32 is involved in sonic hedgehog signaling. | 20159594 |
| 2010-09-15 22:05:00 | Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | 20628086 |
| 2010-09-15 22:05:00 | Observational study of gene-disease association. (HuGE Navigator) | 19913121 |
| Type | IDs |
|---|---|
| Synonymous | BROMI, C6orf170, C6orf171 |
| Gene |
UniProtKB-ID:
BROMI_HUMAN
UniprotKB:
Q96NH3
UniParc:
UPI000020E186,
UPI000181329E,
UPI0000E67203
EMBL:
AL035593,
AL365508,
AL590225,
AK091554,
AL589910,
AK125385,
AL139098,
AK131446,
AK055461
Ensembl:
ENSG00000146350
KO:
hsa:221322
|
| Nucleutide sequences |
EMBL-CDS:
BAB70925.1,
BAD18591.1,
BAC03694.1,
BAC86152.1
Ensembl_TRS:
ENST00000464622,
ENST00000275159,
ENST00000398212
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000428839,
ENSP00000381270,
ENSP00000275159
RefSeq:
XP_011533871.1,
NP_689943.4,
XP_016865894.1,
XP_011533876.1,
XP_016865892.1,
XP_011533882.1,
XP_016865893.1,
XP_011533877.1,
NP_001354689.1,
XP_016865887.1,
XP_011533872.1,
XP_011533873.1,
NP_001354688.1,
XP_011533884.1,
XP_011533887.1,
XP_016865889.1,
XP_016865890.1,
XP_011533878.1,
XP_016865891.1,
XP_016865888.1
|
| Others |
UniRef100:
UniRef100_Q96NH3
UniRef90:
UniRef90_Q96NH3
UniRef50:
UniRef50_Q96NH3
UniGene:
Hs.121396
CCDS:
CCDS43501.1
|
| {{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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