Gene Gene information from NCBI Gene database.
Entrez ID 5099
Gene name Protocadherin 7
Gene symbol PCDH7
Synonyms (NCBI Gene)
BH-PcdhBHPCDHPPP1R120
Chromosome 4
Chromosome location 4p15.1
Summary This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a protein with an extracellular domain containing 7 cadherin repeats. The gene product is an integral membrane protein that is thought to functio
miRNA miRNA information provided by mirtarbase database.
175
miRTarBase ID miRNA Experiments Reference
MIRT023562 hsa-miR-1-3p Proteomics 18668040
MIRT026282 hsa-miR-192-5p Microarray 19074876
MIRT050339 hsa-miR-25-3p CLASH 23622248
MIRT676932 hsa-miR-8485 HITS-CLIP 21572407
MIRT676933 hsa-miR-329-3p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS 9615233
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602988 8659 ENSG00000169851
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60245
Protein name Protocadherin-7 (Brain-heart protocadherin) (BH-Pcdh)
PDB 2YST
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08266 Cadherin_2 33 117 Cadherin-like Domain
PF00028 Cadherin 238 299 Cadherin domain Domain
PF00028 Cadherin 313 406 Cadherin domain Domain
PF00028 Cadherin 429 526 Cadherin domain Domain
PF00028 Cadherin 540 630 Cadherin domain Domain
PF00028 Cadherin 644 733 Cadherin domain Domain
PF00028 Cadherin 752 840 Cadherin domain Domain
PF08374 Protocadherin 842 1056 Protocadherin Family
Tissue specificity TISSUE SPECIFICITY: Expressed predominantly in brain and heart and at lower levels in various other tissues.
Sequence
MLRMRTAGWARGWCLGCCLLLPLSLSLAAAKQLLRYRLAEEGPADVRIGNVASDLGIVTG
SGEVTFSLESGSEYLKIDNLTGELSTSERRIDREKLPQCQMIFDENECFLDFEVSVI
GPS
QSWVDLFEGQVIVLDINDNTPTFPSPVLTLTVEENRPVGTLYLLPTATDRDFGRNGIERY
ELLQEPGGGGSGGESRRAGAADSAPYPGGGGNGASGGGSGGSKRRLDASEGGGGTNPGGR
SSVFELQVADTPDGEKQPQLIVKGALDREQRDSYELTLRVRDGGDPPRSSQAILRVLIT
D
VNDNSPRFEKSVYEADLAENSAPGTPILQLRAADLDVGVNGQIEYVFGAATESVRRLLRL
DETSGWLSVLHRIDREEVNQLRFTVMARDRGQPPKTDKATVVLNIK
DENDNVPSIEIRKI
GRIPLKDGVANVAEDVLVDTPIALVQVSDRDQGENGVVTCTVVGDVPFQLKPASDTEGDQ
NKKKYFLHTSTPLDYEATREFNVVIVAVDSGSPSLSSNNSLIVKVG
DTNDNPPMFGQSVV
EVYFPENNIPGERVATVLATDADSGKNAEIAYSLDSSVMGIFAIDPDSGDILVNTVLDRE
QTDRYEFKVNAKDKGIPVLQGSTTVIVQVA
DKNDNDPKFMQDVFTFYVKENLQPNSPVGM
VTVMDADKGRNAEMSLYIEENNNIFSIENDTGTIYSTMSFDREHQTTYTFRVKAVDGGDP
PRSATATVSLFVM
DENDNAPTVTLPKNISYTLLPPSSNVRTVVATVLATDSDDGINADLN
YSIVGGNPFKLFEIDPTSGVVSLVGKLTQKHYGLHRLVVQVNDSGQPSQSTTTLVHVFVN

ESVSNATAIDSQIARSLHIPLTQDIAGDPSYEISKQRLSIVIGVVAGIMTVILIILIVVM
ARYCRSKNKNGYEAGKKDHEDFFTPQQHDKSKKPKKDKKNKKSKQPLYSSIVTVEASKPN
GQRYDSVNEKLSDSPSMGRYRSVNGGPGSPDLARHYKSSSPLPTVQLHPQSPTAGKKHQA
VQDLPPANTFVGAGDNISIGSDHCSEYSCQTNNKYS
KQMRLHPYITVFG
Sequence length 1069
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Virion - Lassa virus and SFTS virus   Platelet degranulation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Benign rs77959066 RCV005908708
Hepatocellular carcinoma Benign rs77959066 RCV005908709
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 34580602
Attention Deficit Disorder with Hyperactivity Associate 34573389
Bone Diseases Metabolic Associate 36728938
Breast Neoplasms Associate 33899544
Dermatitis Exfoliative Associate 25950944
Epilepsy Associate 25950944, 28756411
Hereditary leiomyomatosis and renal cell cancer Associate 37910143
Hodgkin Disease Associate 37910143
Hypertension Associate 32315356
Inflammation Associate 34580602