Hs02806987_cn

• Gene Symbol: PTHLH
• Assay Reference Genome Location: Chr.12:27970231 on build GRCh38
• Cytoband: 12p11.22

Target Gene Details

• Entrez Gene ID: 5744
• Gene Name: parathyroid hormone like hormone
• Gene Aliases: BDE2, HHM, PLP, PTHR, PTHRP
• Location: Chr.12:27958084-27974187 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PTHLH	NM_002820.2	2	94	NP_002811.1
	NM_198965.1	2	94	NP_945316.1
	XM_011520774.2	2	195	XP_011519076.1
	XM_011520775.2	3	339	XP_011519077.1
	XM_017019674.1	3	2630	XP_016875163.1
	XM_017019675.1	2	379	XP_016875164.1
	BG680355.1	3	313
	BI752853.1
	J03580.1	1	710	AAA60216.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3628956	Chr.12:27969159 - 27972559 on Build GRCh38	Loss	PTHLH
nsv557864	Chr.12:27899261 - 28277169 on Build GRCh38	Gain	LOC729291 PTHLH CCDC91
nsv557876	Chr.12:27961883 - 28572171 on Build GRCh38	Gain	LOC729291 LOC101928705 PTHLH CCDC91

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

peptide hormone

Gene Ontology Categories:

Process(es)

skeletal system development
osteoblast development
adenylate cyclase-activating G-protein coupled receptor signaling pathway
cell-cell signaling
female pregnancy
positive regulation of cell proliferation
negative regulation of cell proliferation
epidermis development
regulation of gene expression
positive regulation of cAMP biosynthetic process
negative regulation of chondrocyte differentiation
cAMP metabolic process

Function(s)

hormone activity
peptide hormone receptor binding