Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56144
Gene name Gene Name - the full gene name approved by the HGNC.
Protocadherin alpha 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PCDHA4
Synonyms (NCBI Gene) Gene synonyms aliases
CNR1, CNRN1, CRNR1, PCDH-ALPHA4
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 alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha ge
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019262 hsa-miR-148b-3p Microarray 17612493
MIRT028998 hsa-miR-26b-5p Microarray 19088304
MIRT053674 hsa-miR-181a-5p Microarray 22942087
MIRT053722 hsa-miR-221-3p Microarray 22942087
MIRT619218 hsa-miR-1914-5p HITS-CLIP 23824327
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:0005509 Function Calcium ion binding ISS
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606310 8670 ENSG00000204967
Protein
UniProt ID Q9UN74
Protein name Protocadherin alpha-4 (PCDH-alpha-4)
Protein function Calcium-dependent cell-adhesion protein involved in cells self-recognition and non-self discrimination. Thereby, it is 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 30 112 Cadherin-like Domain
PF00028 Cadherin 138 233 Cadherin domain Domain
PF00028 Cadherin 247 341 Cadherin domain Domain
PF00028 Cadherin 355 446 Cadherin domain Domain
PF00028 Cadherin 460 556 Cadherin domain Domain
PF00028 Cadherin 577 670 Cadherin domain Domain
PF15974 Cadherin_tail 797 930 Cadherin C-terminal cytoplasmic tail, catenin-binding region Family
Sequence
MEFSWGSGQESRRLLLLLLLLAAWEAGNGQLHYSVSEEAKHGTFVGRIAQDLGLELAELV
PRLFRVASKGRGGLLEVNLQNGILFVNSRIDREELCRRSAECSIHLEVIVDR
PLQVFHVD
VEVRDINDNPPVFPATQKNLSIAESRPLDSRFPLEGASDADIGENALLTYRLSPNEYFSL
EKPPDDELVKGLGLILRKSLDREEAPEIFLVLTATDGGKPELTGTVQLLITVL
DANDNAP
AFDRTIYKVRLLENVPNGTLVIKLNASDLDEGLNGDIVYSFSNDISPNVKSKFHIDPITG
QIIVKGYIDFEESKSYEIIVEGIDKGQLPLSGHCRVIVEVE
DNNDNVPDLEFKSLSLPIR
EDAPLGTVIALISVSDKDMGVNGLVTCSLTSHVPFKLVSTFKNYYSLVLDSALDRESVSA
YELVVTARDGGSPSLWATASVSVEVA
DVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSAW
DADAQENALVSYSLVERRVGERALSSYVSVHAESGKVYALQPLDHEELELLQFQVTARDA
GVPPLGSNVTLQVFVL
DENDNAPALLAPRAGGTGGAVSELVPWSVGVGHVVAKVRAVDAD
SGYNAWLSYELQPGTGGARIPFRVGLYTGEISTTRALDETDAPRHRLLVLVKDHGEPALT
ATATVLVSLV
ESGQAPKASSRALVGAVGPDAALVDVNVYLIIAICAVSSLLVLTLLLYTA
LRCSALPTEGACAPGKPTLVCSSAVGSWSYSQQRRPRVCSGEGPPKTDLMAFSPSLPDSR
DREDQLQTTEESFAKPRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVS
SATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDKFIIPGSPAIISIRQEP
TNSQIDKSDFITFGKKEETKKKKKKKKGNK
TQEKKEKGNSTTDNSDQ
Sequence length 947
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Insomnia Insomnia N/A N/A GWAS
Mental Depression Major depressive disorder N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 33630843
Hypomagnesemia primary Stimulate 25418975
Myopia Associate 36036911
Neoplasms Stimulate 25418975
Rhabdomyosarcoma Associate 27842508
Uterine Cervical Diseases Associate 25418975
Uterine Cervical Neoplasms Associate 25418975