PTHLH (parathyroid hormone like hormone)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5744
Gene name Parathyroid hormone like hormone
Gene symbol PTHLH
Synonyms (NCBI Gene)
BDE2HHMPLPPTHRPTHRP
Chromosome 12
Chromosome location 12p11.22
Summary The protein encoded by this gene is a member of the parathyroid hormone family. This hormone, via its receptor, PTHR1, regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. It
SNPs SNP information provided by dbSNP.
5
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
SNP ID Visualize variation Clinical significance Consequence
rs267606985 A>G Pathogenic Missense variant, coding sequence variant
rs267606986 A>G Pathogenic Missense variant, coding sequence variant
rs267606987 T>C Pathogenic Genic downstream transcript variant, stop lost, terminator codon variant
rs267606988 T>A Pathogenic Stop gained, coding sequence variant
rs1555124505 A>G Likely-pathogenic Stop lost, terminator codon variant, splice donor variant
miRNA miRNA information provided by mirtarbase database.
40
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (40)
miRTarBase ID miRNA Experiments Reference
MIRT035547 hsa-miR-33a-5p Luciferase reporter assay 23453925
MIRT035547 hsa-miR-33a-5p Luciferase reporter assay 23453925
MIRT735610 hsa-miR-370-3p RNA-seqqRT-PCR 32065449
MIRT1273385 hsa-miR-3942-3p CLIP-seq
MIRT1273386 hsa-miR-4729 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
6
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (6)
Transcription factor Regulation Reference
ETS1 Activation 15072578;8063775
ETS1 Unknown 11590145
NFKB1 Activation 17554373
RELA Activation 17554373
SMAD3 Activation 24330518
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (33)
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development IDA 9008714
GO:0002076 Process Osteoblast development IBA
GO:0005179 Function Hormone activity IBA
GO:0005179 Function Hormone activity IDA 19674967, 35932760
GO:0005179 Function Hormone activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
168470 9607 ENSG00000087494
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P12272
Protein name Parathyroid hormone-related protein (PTH-rP) (PTHrP) (Parathyroid hormone-like protein) (PLP) [Cleaved into: PTHrP[1-36]; PTHrP[38-94]; Osteostatin (PTHrP[107-139])]
Protein function Neuroendocrine peptide which is a critical regulator of cellular and organ growth, development, migration, differentiation and survival and of epithelial calcium ion transport (PubMed:12538599, PubMed:35932760, PubMed:3616618). Acts by binding t
PDB 1BZG , 1M5N , 3FFD , 3H3G , 7UZO , 7UZP , 7VVJ , 8D51 , 8D52 , 8FLR , 8HAF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01279 Parathyroid 34 → 128 Parathyroid hormone family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Also expressed in the mammary gland.
Sequence 
MQRRLVQQWSVAVFLLSYAVPSCGRSVEGLSRRLKRAVSEHQLLHDKGKSIQDLRRRFFL
HHLIAEIHTAEIRATSEVSPNSKPSPNTKNHPVRFGSDDEGRYLTQETNKVETYKEQPLK
TPGKKKKGKPGKRKEQEKKKRRTRSAWLDSGVTGSGLEGDHLSDTSTTSLELDSRRH
Sequence length 177
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Hormone signaling
Parathyroid hormone synthesis, secretion and action 		  Class B/2 (Secretin family receptors)
G alpha (s) signalling events
ADORA2B mediated anti-inflammatory cytokines production
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
9
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Brachydactyly type E2 Pathogenic rs2120670890, rs267606985, rs267606986, rs267606987, rs267606988 RCV001553657
RCV000014745
RCV000014746
RCV000014747
RCV000014748
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
PTHLH-related disorder Uncertain significance rs146647632, rs1195221644, rs2062778870 RCV003966151
RCV003411992
RCV003949562
Show/Hide Text Mining Associations (140)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Achondroplasia Inhibit 12929929
Acro Osteolysis Stimulate 17882547
Acro Osteolysis Associate 26733284, 35908058
Adenocarcinoma Associate 16033073
Allergic Fungal Sinusitis Stimulate 21177983
Arthritis Rheumatoid Stimulate 9525978
Astrocytoma Associate 10942719
Bone Diseases Associate 11369623, 11590145, 11701443, 21085597, 23787729, 26160166, 30689168
Bone Marrow Diseases Associate 26160550
Bone Neoplasms Associate 21625386, 22508574