PTCHD1 (patched domain containing 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
139411
Gene name Gene Name - the full gene name approved by the HGNC.
Patched domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PTCHD1
Synonyms (NCBI Gene) Gene synonyms aliases
AUTSX4, CXDELp22.11, DELXP22.11, SLC65C1
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp22.11
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a membrane protein with a patched domain. The encoded protein is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in this gene, which is located on the X chromosome, are associated with in
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(15)
SNP ID Visualize variation Clinical significance Consequence
rs150186077 T>C Conflicting-interpretations-of-pathogenicity, likely-benign Synonymous variant, coding sequence variant
rs797044922 TGTTG>GAA Pathogenic Frameshift variant, coding sequence variant
rs878854360 C>- Risk-factor Frameshift variant, coding sequence variant
rs878854361 C>- Risk-factor Frameshift variant, coding sequence variant
rs879255587 ->A Risk-factor Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(424)
miRTarBase ID miRNA Experiments Reference
MIRT021976 hsa-miR-128-3p Microarray 17612493
MIRT627811 hsa-miR-511-3p HITS-CLIP 23313552
MIRT608834 hsa-miR-4455 HITS-CLIP 23313552
MIRT608833 hsa-miR-3650 HITS-CLIP 23313552
MIRT627810 hsa-miR-4796-5p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(24)
GO ID Ontology Definition Evidence Reference
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 20844286
GO:0005886 Component Plasma membrane IEA
GO:0007154 Process Cell communication IEA
GO:0007224 Process Smoothened signaling pathway IDA 20844286
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300828 26392 ENSG00000165186
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q96NR3
Protein name Patched domain-containing protein 1
Protein function Required for the development and function of the thalamic reticular nucleus (TRN), a part of the thalamus that is critical for thalamocortical transmission, generation of sleep rhythms, sensorimotor processing and attention. Can bind cholesterol
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02460 Patched 49 → 851 Patched family Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed, including in various regions of the brain with highest expression in the gray and white cerebellum, followed by the cerebellar vermis and the pituitary gland. {ECO:0000269|PubMed:20844286}.
Sequence 
MLRQVLHRGLRTCFSRLGHFIASHPVFFASAPVLISILLGASFSRYQVEESVEHLLAPQH
SLAKIERNLVNSLFPVNRSKHRLYSDLQTPGRYGRVIVTSFQKANMLDQHHTDLILKLHA
AVTKIQVPRPGFNYTFAHICILNNDKTCIVDDIVHVLEELKNARATNRTNFAITYPITHL
KDGRAVYNGHQLGGVTVHSKDRVKSAEAIQLTYYLQSINSLNDMVAERWESSFCDTVRLF
QKSNSKVKMYPYTSSSLREDFQKTSRVSERYLVTSLILVVTMAILCCSMQDCVRSKPWLG
LLGLVTISLATLTAAGIINLTGGKYNSTFLGVPFVMLGHGLYGTFEMLSSWRKTREDQHV
KERTAAVYADSMLSFSLTTAMYLVTFGIGASPFTNIEAARIFCCNSCIAIFFNYLYVLSF
YGSSLVFTGYIENNYQHSIFCRKVPKPEALQEKPAWYRFLLTARFSEDTAEGEEANTYES
HLLVCFLKRYYCDWITNTYVKPFVVLFYLIYISFALMGYLQVSEGSDLSNIVATATQTIE
YTTAQQKYFSNYSPVIGFYIYESIEYWNTSVQEDVLEYTKGFVRISWFESYLNYLRKLNV
STGLPKKNFTDMLRNSFLKAPQFSHFQEDIIFSKKYNDEVDVVASRMFLVAKTMETNREE
LYDLLETLRRLSVTSKVKFIVFNPSFVYMDRYASSLGAPLHNSCISALFLLFFSAFLVAD
SLINVWITLTVVSVEFGVIGFMTLWKVELDCISVLCLIYGINYTIDNCAPMLSTFVLGKD
FTRTKWVKNALEVHGVAILQSYLCYIVGLIPLAAVPSNLTCTLFRCLFLIAFVTFFHCFA
ILPVILTFLPPSKKKRKEKKNPENREEIECVEMVDIDSTRVVDQITTV
Sequence length 888
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Autism, X-Linked Autism, susceptibility to, X-linked 4 rs1060499778, rs1555912102 N/A
Show/Hide Unknown Diseases (4)
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
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Mental retardation non-syndromic X-linked intellectual disability N/A N/A GenCC
Ovarian cancer Epithelial ovarian cancer N/A N/A GWAS
Uveal Melanoma Uveal melanoma N/A N/A GWAS
Show/Hide Text Mining Associations (12)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 18252227, 25782667, 31540669, 36635662, 38007613, 38275824
Autistic Disorder Associate 20531469, 21439084, 31540669, 36635662, 38007613
Breast Neoplasms Associate 31817155
Developmental Disabilities Associate 38007613, 38275824
Disease Associate 38007613
Endometrial Neoplasms Associate 36232772
Epilepsy Associate 31957018
Intellectual Disability Associate 20655035, 25782667, 36635662, 38007613, 38275824
Muscle Hypotonia Associate 38007613
Neoplasms Associate 31817155