CCDC32
entrez
90416
canonical
uniprot
Q9BV29
canonical
ensembl
ENSG00000128891
resolver
ensp
ENSP00000350695
resolver
ensp
ENSP00000397515
resolver
ensp
ENSP00000452773
resolver
ensp
ENSP00000453221
resolver
ensp
ENSP00000453899
resolver
ensp
ENSP00000454049
resolver
ensp
ENSP00000573530
resolver
ensp
ENSP00000633766
resolver
ensp
ENSP00000656146
resolver
ensp
ENSP00000656148
resolver
ensp
ENSP00000656150
resolver
ensp
ENSP00000736279
resolver
ensp
ENSP00000776521
resolver
enst
ENST00000558113
resolver
genesymbol
CCDC32
resolver
genesymbol_syn
C15orf57
resolver
hgnc
HGNC:28295
resolver
uniprot
A8KAL4
resolver
uniprot
H0YLI5
resolver
uniprot
Q86TC4
resolver
uniprot
Q8N788
resolver
uniprot
Q8NAR7
resolver
uniprot_entry
CCD32_HUMAN
resolver
uniprot_entry
H0YLI5_HUMAN
resolver
uniprot_sec
A8KAL4
resolver
uniprot_sec
Q86TC4
resolver
uniprot_sec
Q8N788
resolver
uniprot_sec
Q8NAR7
resolver
amino_acid_sequence
MKMFESADSTATRSGQDLWAEICSCLPNPEQEDGANNAFSDSFVDSCPEGEGQREVADFAVQPAVKPWAPLQDSEVYLASLEKKLRRIKGLNQEVTSKDMLRTLAQAKKECWDRFLQEKLASEFFVDGLDSDESTLEHFKRWLQPDKVAVSTEEVQYLIPPESQVEKPVAEDEPAAGDKPAAAEQ
uniprot
proteins
disease_involvement
DISEASE: Cardiofacioneurodevelopmental syndrome (CFNDS) [MIM:619123]: An autosomal recessive disorder characterized by global developmental delay, feeding difficulties, microcephaly and dysmorphic features. Additional features include cleft lip, cleft palate, variable cardiac defects, and abdominal situs inversus with asplenia. Brain imaging reveals cerebellar hypoplasia. {ECO:0000269|PubMed:32307552, ECO:0000269|PubMed:35451546}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Regulates clathrin-mediated endocytsois of cargos such as transferrin probably through the association and modulation of adaptor protein complex 2 (AP-2) (PubMed:33859415). Has a role in ciliogenesis (By similarity). Required for proper cephalic and left/right axis development (PubMed:32307552). {ECO:0000250|UniProtKB:X1WGV5, ECO:0000269|PubMed:32307552, ECO:0000269|PubMed:33859415}.
uniprot
proteins
mass_dalton
20656
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
32307552
uniprot
proteins
pubmed
33859415
uniprot
proteins
pubmed
35451546
uniprot
proteins
sequence_length
185
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane, coated pit {ECO:0000269|PubMed:33859415}; Peripheral membrane protein {ECO:0000305|PubMed:33859415}; Cytoplasmic side {ECO:0000305|PubMed:33859415}.
uniprot
proteins