Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q21115577)
Watch
English
Chromosome 12 open reading frame 57
mammalian protein found in Homo sapiens
C12orf57
gene rich cluster C10
protein C10
likely ortholog of mouse gene rich cluster, C10
In more languages
default values for all languages
No label defined
No description defined
edit
Statements
instance of
protein
1 reference
stated in
UniProt
retrieved
13 November 2019
UniProt protein ID
Q99622
part of
Protein C10
1 reference
stated in
InterPro Release 71.0
reference URL
http://www.ebi.ac.uk/interpro/protein/Q99622
found in taxon
Homo sapiens
1 reference
stated in
UniProt
retrieved
13 November 2019
UniProt protein ID
Q99622
encoded by
C12orf57
1 reference
stated in
UniProt
retrieved
13 November 2019
UniProt protein ID
Q99622
molecular function
molecular function
determination method
ND
1 reference
retrieved
8 April 2019
stated in
GOA
curator
UniProt
UniProt protein ID
Q99622
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q99622
determination method
ND
cell component
cytoplasm
determination method
IDA
IEA
2 references
retrieved
8 April 2019
stated in
GOA
curator
UniProt
UniProt protein ID
Q99622
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q99622
determination method
IEA
retrieved
8 April 2019
stated in
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia
GOA
curator
UniProt
UniProt protein ID
Q99622
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q99622
determination method
IDA
nuclear speck
determination method
IDA
1 reference
retrieved
8 April 2019
stated in
GOA
curator
Human Protein Atlas
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q99622
determination method
IDA
biological process
post-embryonic development
determination method
IMP
4 references
retrieved
8 April 2019
stated in
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia
GOA
curator
UniProt
UniProt protein ID
Q99622
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q99622
determination method
IMP
retrieved
8 April 2019
stated in
Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures
GOA
curator
UniProt
UniProt protein ID
Q99622
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q99622
determination method
IMP
retrieved
8 April 2019
stated in
Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia
GOA
curator
UniProt
UniProt protein ID
Q99622
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q99622
determination method
IMP
retrieved
8 April 2019
stated in
A newly recognized autosomal recessive syndrome affecting neurologic function and vision
GOA
curator
UniProt
UniProt protein ID
Q99622
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q99622
determination method
IMP
regulation of skeletal muscle contraction
determination method
IMP
3 references
retrieved
8 April 2019
stated in
Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures
GOA
curator
UniProt
UniProt protein ID
Q99622
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q99622
determination method
IMP
retrieved
8 April 2019
stated in
Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia
GOA
curator
UniProt
UniProt protein ID
Q99622
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q99622
determination method
IMP
retrieved
8 April 2019
stated in
A newly recognized autosomal recessive syndrome affecting neurologic function and vision
GOA
curator
UniProt
UniProt protein ID
Q99622
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q99622
determination method
IMP
corpus callosum morphogenesis
determination method
IMP
4 references
retrieved
8 April 2019
stated in
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia
GOA
curator
UniProt
UniProt protein ID
Q99622
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q99622
determination method
IMP
retrieved
8 April 2019
stated in
Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures
GOA
curator
UniProt
UniProt protein ID
Q99622
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q99622
determination method
IMP
retrieved
8 April 2019
stated in
Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia
GOA
curator
UniProt
UniProt protein ID
Q99622
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q99622
determination method
IMP
retrieved
8 April 2019
stated in
A newly recognized autosomal recessive syndrome affecting neurologic function and vision
GOA
curator
UniProt
UniProt protein ID
Q99622
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q99622
determination method
IMP
third ventricle development
determination method
IMP
1 reference
retrieved
8 April 2019
stated in
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia
GOA
curator
UniProt
UniProt protein ID
Q99622
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q99622
determination method
IMP
psychomotor behavior
determination method
IMP
1 reference
retrieved
8 April 2019
stated in
A newly recognized autosomal recessive syndrome affecting neurologic function and vision
GOA
curator
UniProt
UniProt protein ID
Q99622
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q99622
determination method
IMP
camera-type eye morphogenesis
determination method
IMP
3 references
retrieved
8 April 2019
stated in
Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures
GOA
curator
UniProt
UniProt protein ID
Q99622
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q99622
determination method
IMP
retrieved
8 April 2019
stated in
Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia
GOA
curator
UniProt
UniProt protein ID
Q99622
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q99622
determination method
IMP
retrieved
8 April 2019
stated in
A newly recognized autosomal recessive syndrome affecting neurologic function and vision
GOA
curator
UniProt
UniProt protein ID
Q99622
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q99622
determination method
IMP
cognition
determination method
IMP
1 reference
retrieved
8 April 2019
stated in
A newly recognized autosomal recessive syndrome affecting neurologic function and vision
GOA
curator
UniProt
UniProt protein ID
Q99622
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q99622
determination method
IMP
Identifiers
RefSeq protein ID
NP_001288763
1 reference
stated in
NCBI Gene
retrieved
30 May 2020
Entrez Gene ID
113246
NP_001288765
1 reference
stated in
NCBI Gene
retrieved
30 May 2020
Entrez Gene ID
113246
NP_001288766
1 reference
stated in
NCBI Gene
retrieved
30 May 2020
Entrez Gene ID
113246
NP_001288767
1 reference
stated in
NCBI Gene
retrieved
30 May 2020
Entrez Gene ID
113246
NP_612434
1 reference
stated in
NCBI Gene
retrieved
30 May 2020
Entrez Gene ID
113246
UniProt protein ID
Q99622
1 reference
stated in
UniProt
retrieved
13 November 2019
UniProt protein ID
Q99622
Ensembl protein ID
ENSP00000229281
1 reference
stated in
Ensembl Release 99
Ensembl protein ID
ENSP00000229281
ENSP00000440602
1 reference
stated in
Ensembl Release 99
Ensembl protein ID
ENSP00000440602
ENSP00000440937
1 reference
stated in
Ensembl Release 99
Ensembl protein ID
ENSP00000440937
ENSP00000475422
1 reference
stated in
Ensembl Release 99
Ensembl protein ID
ENSP00000475422
ENSP00000475635
1 reference
stated in
Ensembl Release 99
Ensembl protein ID
ENSP00000475635
Sitelinks
Wikipedia
(0 entries)
edit
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit
