PTCH2 patched 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PTCH2provided by HGNC
Official Full Name: patched 2provided by HGNC
Primary source: HGNC:HGNC:9586
See related: Ensembl:ENSG00000117425 MIM:603673; AllianceGenome:HGNC:9586
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PTC2
Summary: This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]
Expression: Biased expression in salivary gland (RPKM 12.5), testis (RPKM 11.4) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.1

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (44819845..44843253, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (44691074..44714486, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (45285517..45308925, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of rare variants in PTCH2 associated with non-syndromic orofacial clefts.
Title: Identification of rare variants in PTCH2 associated with non-syndromic orofacial clefts.
Reduced PTCH2 expression is associated with glioma development through its regulation of the PTEN/AKT signaling pathway.
Title: Reduced PTCH2 expression is associated with glioma development through its regulation of the PTEN/AKT signaling pathway.
PTCH2 is not a strong candidate gene for gorlin syndrome predisposition.
Title: PTCH2 is not a strong candidate gene for gorlin syndrome predisposition.
Inherited rare and common variants in PTCH1 and PTCH2 contributing to the predisposition to reproductive cancers.
Title: Inherited rare and common variants in PTCH1 and PTCH2 contributing to the predisposition to reproductive cancers.
[Exploring parent-of-origin effects for non-syndromic cleft lip with or without cleft palate on PTCH1, PTCH2, SHH, SMO genes in Chinese case-parent trios].
Title: [Exploring parent-of-origin effects for non-syndromic cleft lip with or without cleft palate on PTCH1, PTCH2, SHH, SMO genes in Chinese case-parent trios].
Pds5b/Ptch2 axis regulates cell proliferation and invasion in pancreatic tumor cells.
Title: PDS5B regulates cell proliferation and motility via upregulation of Ptch2 in pancreatic cancer cells.
The importance of the ATRX/DAXX pathway was confirmed by the first-ever pancreatic neuroendocrine neoplasms (pNEN)-specific protein-damaging hotspot mutation in DAXX. In this study, both novel genes, including the pro-apoptotic CYFIP2 gene and hedgehog signaling PTCH2, and novel pathways, such as the MAPK-ERK pathway, were implicated in pNEN.
Title: Hotspot DAXX, PTCH2 and CYFIP2 mutations in pancreatic neuroendocrine neoplasms.
Our data extend these observations and demonstrate a significant increase in Ptch2 expression in the obstructive UPJ segments in a subset of patients with congenital UPJO.
Title: Activated Hedgehog-GLI Signaling Causes Congenital Ureteropelvic Junction Obstruction.
Combined heterozygous germline mutations in PTCH1 and PTCH2 were identified in a patient with embryonal rhabdomyosarcoma.
Title: Congenital embryonal rhabdomyosarcoma caused by heterozygous concomitant PTCH1 and PTCH2 germline mutations.
Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.
Title: Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Basal cell carcinoma, susceptibility to, 1 MedGen: C2751544 OMIM: 605462 GeneReviews: Not available	Compare labs
Medulloblastoma MedGen: C0025149 OMIM: 155255 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_23422-23423:1025023955:3 (e-PCR)
- UniSTS:268693

RH102661 (e-PCR)
- UniSTS:96995

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables hedgehog family protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables hedgehog family protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables hedgehog family protein binding	TAS Traceable Author Statement more info	PubMed
enables hedgehog receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables hedgehog receptor activity	TAS Traceable Author Statement more info	PubMed
enables smoothened binding	IBA Inferred from Biological aspect of Ancestor more info
enables smoothened binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell fate determination	IEA Inferred from Electronic Annotation more info
involved_in epidermal cell fate specification	IEA Inferred from Electronic Annotation more info
involved_in hair cycle	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of smoothened signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of smoothened signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of epidermal cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skin development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: protein patched homolog 2

Names: patched homolog 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_013369.1 RefSeqGene

Range

4692..26007

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001166292.2 → NP_001159764.1 protein patched homolog 2 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

AA781365, AF119569, AI798853, AL136380, AY359016, BX089003

Consensus CDS

CCDS53312.1

UniProtKB/Swiss-Prot

Q9Y6C5

Related

ENSP00000389703.2, ENST00000447098.6

Conserved Domains (2) summary

TIGR00918
Location:12 → 1142

2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family

pfam12349
Location:418 → 570

Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
NM_003738.5 → NP_003729.3 protein patched homolog 2 isoform 1

See identical proteins and their annotated locations for NP_003729.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).

Source sequence(s)

AF119569, AL136380, AL592166, AY359016

Consensus CDS

CCDS516.1

UniProtKB/Swiss-Prot

O95341, O95856, Q53Z57, Q5QP87, Q6UX14, Q9Y6C5

Related

ENSP00000361266.3, ENST00000372192.4

Conserved Domains (2) summary

TIGR00918
Location:12 → 1142

2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family

pfam12349
Location:418 → 570

Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation