Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56100
Gene name Gene Name - the full gene name approved by the HGNC.
Protocadherin gamma subfamily B, 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PCDHGB6
Synonyms (NCBI Gene) Gene synonyms aliases
PCDH-GAMMA-B6
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regul
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005887 Component Integral component of plasma membrane IBA 21873635
GO:0007155 Process Cell adhesion IBA 21873635
GO:0007156 Process Homophilic cell adhesion via plasma membrane adhesion molecules IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606303 8713 ENSG00000253305
Protein
UniProt ID Q9Y5F9
Protein name Protocadherin gamma-B6 (PCDH-gamma-B6)
Protein function Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08266 Cadherin_2 32 112 Cadherin-like Domain
PF00028 Cadherin 138 233 Cadherin domain Domain
PF00028 Cadherin 247 338 Cadherin domain Domain
PF00028 Cadherin 353 443 Cadherin domain Domain
PF00028 Cadherin 457 553 Cadherin domain Domain
PF00028 Cadherin 577 663 Cadherin domain Domain
PF16492 Cadherin_C_2 687 768 Cadherin cytoplasmic C-terminal Family
PF15974 Cadherin_tail 808 930 Cadherin C-terminal cytoplasmic tail, catenin-binding region Family
Sequence
MGGSCAQRRRAGPRQVLFPLLLPLFYPTLSEPIRYSIPEELAKGSVVGNLAKDLGLSVLD
VSARKLRVSAEKLHFSVDAESGDLLVKNRIDREQICKERRRCELQLEAVVEN
PLNIFHVI
VVIEDVNDHAPQFDKKEIHLEIFESASAGTRLSLDPATDPDININSIKDYKINSNPYFSL
MVRVNSDGGKYPELSLEKLLDREEQRSHSLILTALDGGDPPRSATAHIEISVK
DTNDNPP
VFSRDEYRISLSENLPPGSPVLQVTATDQDEGVNAEINYYFRSTAQSTKHMFSLDEKTGM
IKNNQSFDFEDVERYTMEVEAKDGGGLSTQCKVIIEIL
DENDNSPEIIITSLSDQILENS
PPGMVVALFKTRDLDFGGNGEVRCNIETDIPFKIYSSSNNYYKLVTDGALDREQTPEYNV
TIVATDRGKPPLSSSRSITLYVA
DINDNAPVFDQTSYVVHVAENNPPGASIAQVSASDPD
LGLNGHISYSIVASDLEPLAVSSYVSVSAQSGVVFAQRAFDHEQLRAFALTLQARDHGSP
TLSANVSLRVLVG
DRNDNAPRVLYPALGPDGSAFFDMVPRSAEPGYLVTKVVAVDADSGH
NAWLSYHVLQASEPGLFSLGLRTGEVRTARALGDRDAARQRLLVAVRDGGQPPLSATATL
HLV
FADNLQEILPDLSDRPVLSDPQAELQFYLVVALALISVLFLLAVILAIALRLRRSLS
PATWDCFHPGLCVKSGPVVPPNYSEGTLPYSYNLCIAHTGTKEFNFLK
CSVPLHSNEDMV
CSVSPGALIPPHGGEDLTSHPETLTSQAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQ
FDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYGPQFTLQHVPDYRQNVYIPGSNA
TLTNAAGKRDGKAPAGGNGNKKKSGKKEKK
Sequence length 930
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
15818620
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
15818620
Marfan syndrome Mammary Carcinoma, Human rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465
View all (942 more)
15818620
Unknown
Disease term Disease name Evidence References Source
Schizophrenia Schizophrenia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Carcinoma Non Small Cell Lung Associate 24081945
Lung Neoplasms Associate 27485611
Neoplasms Inhibit 27485611
Prodromal Symptoms Associate 24081945