Hs06986506_cn

• Gene Symbol: PTHLH
• Assay Reference Genome Location: Chr.12:27961796 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 Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PTHLH	NM_198965.1			NP_945316.1
	NM_198966.1			NP_945317.1
	XM_011520774.2			XP_011519076.1
	XM_011520775.2			XP_011519077.1
	XM_017019674.1			XP_016875163.1
	XM_017019675.1			XP_016875164.1
	AI569027.1
	AI591151.1
	AI760061.1
	BG676028.1
	BI752853.1
	J03580.1			AAA60216.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv557864	Chr.12:27899261 - 28277169 on Build GRCh38	Gain	PTHLH LOC729291 CCDC91
nsv1159991	Chr.12:27941830 - 27966663 on Build GRCh38	Deletion	PTHLH

More Information

• Set Membership: Intragenic, Intronic, Non-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