| Type | Description |
|---|---|
| Definition | cyclin and CBS domain divalent metal cation transport mediator 4 |
| Date | Results | Publications |
|---|---|---|
| 2021-01-09 13:31:00 | Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort. | 32022389 |
| 2020-05-30 13:13:00 | The novel identified variant in CNNM4 is the first report from the Pakistani population. Sequence analysis of CNNM4 revealed a novel missense variant (c.1220G>T, p.Arg407Leu) in exon-1 encoding cystathionine-beta-synthase (CBS) domain. | 31347285 |
| 2018-12-22 10:44:00 | Jalili Syndrome is a rare cone-rod dystrophy (CORD) and amelogenesis imperfecta (AI), We have further characterized its ocular phenotype, including describing SD-OCT, FAF, and electrophysiological features; and report several novel disease-causing sequence variants. | 29421294 |
| 2018-10-13 12:12:00 | Here, we report the 2 first families with Jalili Syndrome in Brazil. Molecular analysis of the first family identified a previously described homozygous mutation (p.Leu324Pro) in exon 1 of CNNM4 gene. In the second family, affected patients demonstrated a compound heterozygous mutation in CNNM4, the p.Leu324Pro and the novel nonsense mutation p.Tyr581*. | 29421602 |
| 2018-05-26 10:49:00 | Results identified linkage at chromosome 2p14-2q14 and found a homozygous mutation in the CNNM4 gene (p.R605X) causing Jalili syndrome. The truncated CNNM4 protein starting at R605 significantly increased the rate of apoptosis, and significantly increased the interaction between CNNM4 and IQCB1. This mutation may cause Jalili syndrome by a nonsense-mediated decay mechanism, affecting the function of IQCB1 and apoptosis. | 29322253 |
| Type | IDs |
|---|---|
| Synonymous | ACDP4 |
| Gene |
UniProtKB-ID:
CNNM4_HUMAN
UniprotKB:
Q6P4Q7
UniParc:
UPI0000207C95,
UPI0001914AEF
EMBL:
FJ619522,
AB046812,
AK022833,
AC092636,
FJ619524,
BC063295,
AK293915,
AF202777,
FJ619523
Ensembl:
ENSG00000158158
KO:
hsa:26504
|
| Nucleutide sequences |
EMBL-CDS:
BAB14266.1,
ACV32671.1,
BAH11626.1,
AAH63295.2,
AAY14963.1,
BAB13418.1,
AAF86370.1,
ACV32670.1,
ACV32672.1
Ensembl_TRS:
ENST00000377075
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000366275
RefSeq:
NP_064569.3,
XP_016859288.1,
XP_011509257.1,
XP_011509258.1,
XP_005263972.1,
XP_005263971.1
|
| Others |
UniRef100:
UniRef100_Q6P4Q7
UniRef90:
UniRef90_Q6P4Q7
UniRef50:
UniRef50_Q6P4Q7
UniGene:
Hs.175043
CCDS:
CCDS2024.2
|
| {{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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