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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
24
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BULIMIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 30409919
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 34573389 Associate
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 23369722
★☆☆☆☆
Found in Text Mining only
Bone Diseases Metabolic Bone disease Pubtator 36728938 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23751349
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 33899544 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 30409919
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy BEFREE 25087078
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Epilepsy Epilepsy Pubtator 25950944, 28756411 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Epilepsy, Generalized Epilepsy GWASCAT_DG 25087078, 30531953
★☆☆☆☆
Found in Text Mining only