CDH11
entrez
1009
canonical
uniprot
P55287
canonical
ensembl
ENSG00000140937
resolver
ensp
ENSP00000268603
resolver
ensp
ENSP00000377711
resolver
ensp
ENSP00000457812
resolver
enst
ENST00000566827
resolver
genesymbol
CDH11
resolver
hgnc
HGNC:1750
resolver
uniprot
A8K5D6
resolver
uniprot
A8MZC8
resolver
uniprot
B7WP28
resolver
uniprot
H3BUU9
resolver
uniprot
Q15065
resolver
uniprot
Q15066
resolver
uniprot
Q9UQ93
resolver
uniprot
Q9UQ94
resolver
uniprot_entry
CAD11_HUMAN
resolver
uniprot_entry
H3BUU9_HUMAN
resolver
uniprot_sec
A8K5D6
resolver
uniprot_sec
A8MZC8
resolver
uniprot_sec
B7WP28
resolver
uniprot_sec
Q15065
resolver
uniprot_sec
Q15066
resolver
uniprot_sec
Q9UQ93
resolver
uniprot_sec
Q9UQ94
resolver
amino_acid_sequence
MKENYCLQAALVCLGMLCHSHAFAPERRGHLRPSFHGHHEKGKEGQVLQRSKRGWVWNQFFVIEEYTGPDPVLVGRLHSDIDSGDGNIKYILSGEGAGTIFVIDDKSGNIHATKTLDREERAQYTLMAQAVDRDTNRPLEPPSEFIVKVQDINDNPPEFLHETYHANVPERSNVGTSVIQVTASDADDPTYGNSAKLVYSILEGQPYFSVEAQTGIIRTALPNMDREAKEEYHVVIQAKDMGGHMGGLSGTTKVTITLTDVNDNPPKFPQSVYQMSVSEAAVPGEEVGRVKAKDPDIGENGLVTYNIVDGDGMESFEITTDYETQEGVIKLKKPVDFETKRAYSLKVEAANVHIDPKFISNGPFKDTVTVKISVEDADEPPMFLAPSYIHEVQENAAAGTVVGRVHAKDPDAANSPIRYSIDRHTDLDRFFTINPEDGFIKTTKPLDREETAWLNITVFAAEIHNRHQEAKVPVAIRVLDVNDNAPKFAAPYEGFICESDQTKPLSNQPIVTISADDKDDTANGPRFIFSLPPEIIHNPNFTVRDNRDNTAGVYARRGGFSRQKQDLYLLPIVISDGGIPPMSSTNTLTIKVCGCDVNGALLSCNAEAYILNAGLSTGALIAILACIVILLVIVVLFVTLRRQKKEPLIVFEEEDVRENIITYDDEGGGEEDTEAFDIATLQNPDGINGFIPRKDIKPEYQYMPRPGLRPAPNSVDVDDFINTRIQEADNDPTAPPYDSIQIYGYEGRGSVAGSLSSLESATTDSDLDYDYLQNWGPRFKKLADLYGSKDTFDDDS
uniprot
proteins
disease_involvement
DISEASE: Note=A chromosomal aberration involving CDH11 is a common genetic feature of aneurysmal bone cyst, a benign osseous neoplasm. Translocation t(16;17)(q22;p13) with USP6. The translocation generates a fusion gene in which the strong CDH11 promoter is fused to the entire USP6 coding sequence, resulting in USP6 transcriptional up-regulation.; DISEASE: Elsahy-Waters syndrome (ESWS) [MIM:211380]: An autosomal recessive syndrome characterized by moderate intellectual disability, hypospadias and characteristic craniofacial morphology, which includes brachycephaly, facial asymmetry, exotropia, hypertelorism, telechantus, broad nose, concave nasal ridge, underdeveloped mid-face, prognathism, and radicular dentin dysplasia. {ECO:0000269|PubMed:28988429, ECO:0000269|PubMed:29271567}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Teebi hypertelorism syndrome 2 (TBHS2) [MIM:619736]: A form of Teebi hypertelorism syndrome, a syndrome characterized by an abnormally increased distance between ocular orbits, and facial features that can resemble craniofrontonasal dysplasia such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin. Some affected individuals have limb, urogenital, umbilical and cardiac defects. Developmental delay and/or impaired intellectual development have been observed in some patients. TBHS2 inheritance is autosomal dominant. {ECO:0000269|PubMed:33811546}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. Required for proper focal adhesion assembly (PubMed:33811546). Involved in the regulation of cell migration (PubMed:33811546). {ECO:0000269|PubMed:33811546}.
uniprot
proteins
mass_dalton
87965
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15026324
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
2059658
uniprot
proteins
pubmed
28988429
uniprot
proteins
pubmed
29271567
uniprot
proteins
pubmed
33811546
uniprot
proteins
pubmed
7982033
uniprot
proteins
pubmed
8163513
uniprot
proteins
sequence_length
796
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 618..640; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins