CleftGeneDB-Search

Gene: Tph2

Basic information

Tag	Content
Uniprot ID	Q8CGV2; Q0VBT4;
Entrez ID	216343
Genbank protein ID	AAI20515.1; AAI25431.1; AAM08923.1;
Genbank nucleotide ID	NM_173391.3
Ensembl protein ID	ENSMUSP00000006949
Ensembl nucleotide ID	ENSMUSG00000006764
Gene name	Tryptophan 5-hydroxylase 2
Gene symbol	Tph2
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description
Sequence	MQPAMMMFSS KYWARRGLSL DSAVPEDHQL LGSLTQNKAI KSEDKKSGKE PGKGDTTESS 60 KTAVVFSLKN EVGGLVKALR LFQEKHVNML HIESRRSRRR SSEVEIFVDC ECGKTEFNEL 120 IQLLKFQTTI VTLNPPESIW TEEEDLEDVP WFPRKISELD RCSHRVLMYG TELDADHPGF 180 KDNVYRQRRK YFVDVAMGYK YGQPIPRVEY TEEETKTWGV VFRELSKLYP THACREYLKN 240 LPLLTKYCGY REDNVPQLED VSMFLKERSG FTVRPVAGYL SPRDFLAGLA YRVFHCTQYV 300 RHGSDPLYTP EPDTCHELLG HVPLLADPKF AQFSQEIGLA SLGASDEDVQ KLATCYFFTI 360 EFGLCKQEGQ LRAYGAGLLS SIGELKHALS DKACVKSFDP KTTCLQECLI TTFQDAYFVS 420 DSFEEAKEKM RDFAKSITRP FSVYFNPYTQ SIEILKDTRS IENVVQDLRS DLNTVCDALN 480 KMNQYLGI 488

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	TPH2		F1PGH2			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	TPH2	102174722	A0A452DPA3			Capra hircus	Prediction	More>>
1:1 ortholog	TPH2	100009684	Q0EAB8			Equus caballus	Prediction	More>>
1:1 ortholog	TPH2	121278	Q8IWU9			Homo sapiens	Publication	More>>
1:1 ortholog	Tph2	216343	Q8CGV2			Mus musculus	Prediction	More>>
1:1 ortholog	TPH2	467070	A0A2I3TG35			Pan troglodytes	Prediction	More>>
1:1 ortholog	TPH2		F1SH22			Sus scrofa	Prediction	More>>
1:1 ortholog	Tph2	317675	Q8CGU9			Rattus norvegicus	Prediction	More>>
1:1 ortholog	tph2	407712	Q1LUE3			Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
TPH2	rs10879357	PCR-RFLP	22072571

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004510	tryptophan 5-monooxygenase activity	IDA
GO:0004510	tryptophan 5-monooxygenase activity	IBA
GO:0005506	iron ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006587	serotonin biosynthetic process from tryptophan	IC
GO:0007623	circadian rhythm	IEA
GO:0014823	response to activity	IEA
GO:0031667	response to nutrient levels	IEA
GO:0043627	response to estrogen	IEA
GO:0051384	response to glucocorticoid	IEA
GO:0051592	response to calcium ion	IEA
GO:0055114	oxidation-reduction process	IEA
GO:0071285	cellular response to lithium ion	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0043005	neuron projection	IDA
GO:0043005	neuron projection	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-MMU-1430728	Metabolism	IEA
R-MMU-209776	Metabolism of amine-derived hormones	IEA
R-MMU-209931	Serotonin and melatonin biosynthesis	IEA
R-MMU-71291	Metabolism of amino acids and derivatives	IEA

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0408	Iron
KW-0479	Metal-binding
KW-0503	Monooxygenase
KW-0560	Oxidoreductase
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0724	Serotonin biosynthesis

Interpro

InterPro ID	InterPro Term
IPR002912	ACT_dom
IPR001273	ArAA_hydroxylase
IPR018301	ArAA_hydroxylase_Fe/CU_BS
IPR036951	ArAA_hydroxylase_sf
IPR036329	Aro-AA_hydroxylase_C_sf
IPR019774	Aromatic-AA_hydroxylase_C
IPR005963	Trp_5_mOase
IPR041904	TrpOH_cat
IPR019773	Tyrosine_3-monooxygenase-like

PROSITE

PROSITE ID	PROSITE Term
PS51671	ACT
PS00367	BH4_AAA_HYDROXYL_1
PS51410	BH4_AAA_HYDROXYL_2

Pfam

Pfam ID	Pfam Term
PF00351	Biopterin_H

Protein-miRNA interaction