| Type | Description |
|---|---|
| Definition | family with sequence similarity 111 member B |
| Date | Results | Publications |
|---|---|---|
| 2020-05-16 11:14:00 | Mutation in the FAM111B gene is associated with nevus of Ota with choroidal melanoma. | 31407624 |
| 2020-04-18 10:12:00 | This is the first report of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP) in a Chinese family due to a novel FAM111B mutation. | 31392773 |
| 2019-10-26 11:31:00 | One rare variant was found in a patient with SSc but has no functional or structural impact on the FAM111B gene. In this cohort, FAM111B gene mutations are not associated with SSc. | 30375432 |
| 2017-04-01 12:19:00 | Data indicate a heterozygous germline in-frame deletion in the gene FAM111B protein (c.1261_1263delAAG, p.Lys421del) cosegregated with the phenotype. | 26495788 |
| 2014-02-15 12:34:00 | Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. | 24268661 |
| Type | IDs |
|---|---|
| Synonymous | CANP, POIKTMP |
| Gene |
UniProtKB-ID:
F111B_HUMAN
UniprotKB:
Q6SJ93
UniParc:
UPI00001D77B8,
UPI000040571C
EMBL:
AY457926,
BC130513,
AK304258,
BC130539,
BC062456
Ensembl:
ENSG00000189057
KO:
hsa:374393
|
| Nucleutide sequences |
EMBL-CDS:
AAR20839.1,
AAH62456.1,
AAI30514.1,
BAG65124.1,
AAI30540.1
Ensembl_TRS:
ENST00000620384,
ENST00000529618,
ENST00000411426,
ENST00000343597
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000341565,
ENSP00000393855,
ENSP00000483456,
ENSP00000432875
RefSeq:
NP_945185.1,
NP_001136176.1,
NP_001136175.1
|
| Others |
UniRef100:
UniRef100_Q6SJ93
UniRef90:
UniRef90_Q6SJ93
UniRef50:
UniRef50_Q6SJ93
UniGene:
Hs.186579
CCDS:
CCDS7972.1,
CCDS44611.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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