Gene: Rhpn2

Basic information

Tag Content
Uniprot ID Q8BWR8; Q9DBN2;
Entrez ID 52428
Genbank protein ID BAC34127.1; BAB23615.1;
Genbank nucleotide ID NM_027897.4
Ensembl protein ID ENSMUSP00000032705; ENSMUSP00000082692;
Ensembl nucleotide ID ENSMUSG00000030494
Gene name Rhophilin-2
Gene symbol Rhpn2
Organism Mus musculus
NCBI taxa ID 10090
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Binds specifically to GTP-Rho. May function in a Rho pathway to limit stress fiber formation and/or increase the turnover of F-actin structures in the absence of high levels of RhoA activity (By similarity).
Sequence
MTDTLLPAAP QPLEKEGDDY FRKGCNPLAQ TGRSKLQNQR AALNQQILKA VRMRTGAENL 60
LKVATNQKVR EQVRLELSFV NSDLQMLKEE LEGLNISVGV YQGTEEAFTI PLIPLGLKET 120
KEVDFSIVFK DFILEHYSED SYLYEDDIAD LMDLRQACRT PSRDEAGVEL LMSYFIQLGF 180
VESRFFPPTR HMGLLFTWYD SFTGVPVSQQ TLLLEKASVL FNIGALYTQI GTRCNRQTQA 240
GLESAVDAFQ RAAGVLNYLK ETFTHTPSYD MSPAMLSVLV KMMLAQAQES VFEKVCLPGI 300
QNEFFVLVKV AQEAAKVAEA YRQLHAAMSQ EPVKENIPYS WASVAYVKAY HYGALAHYFA 360
ATLLIDHQLK PGADEDHQEK CLSQLYDRMP EGMTPLATLK NAGQRVLLGK GHLHRAIGFH 420
EESLREANLC KKLRDIQVLR DVLSAAHQRT QLKHTQHRED DDLLNLIDAP DVLPKTEREV 480
KITFPDFSKV TVTDFFQKLG PLSVFSASKR WSPPRGIHFT VEEGDLGFTL RGNTPVQVHF 540
LDPHCSASLA GAKEGDYIVS IQGVDCKWLT VSEVMKLLKS FGGEEVEMKV VSLLDSTSSM 600
HNKCATYSVG MQKTYSMICL SMDDDDKADK TKKISKKLSF LSWGTSKNRQ KSASTLCLPE 660
VGLARSQNKK KLPTPFSLLN SDSSLY 686

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


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Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologRHPN2102189513A0A452E2S5Capra hircusPredictionMore>>
1:1 orthologRHPN285415Q8IUC4Homo sapiensPublicationMore>>
1:1 orthologRhpn252428Q8BWR8Mus musculusPredictionMore>>
1:1 orthologA0A4X1TSG5Sus scrofaPredictionMore>>
1:1 orthologRhpn2308516D4A8N7Rattus norvegicusPredictionMore>>
1:1 orthologrhpn2F1QEF4Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
RHPN2rs73039426WES and Sanger sequencing29949196
RHPN2rs73039428Genotyping and GWAS27033726

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003674 molecular_functionND

GO:Biological Process

GO ID GO Term Evidence
GO:0007165 signal transductionIEA
GO:0008150 biological_processND

GO:Cellular Component

GO ID GO Term Evidence
GO:0048471 perinuclear region of cytoplasmIEA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-162582 Signal TransductionIEA
R-MMU-194315 Signaling by Rho GTPasesIEA
R-MMU-195258 RHO GTPase EffectorsIEA
R-MMU-5666185 RHO GTPases Activate Rhotekin and RhophilinsIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0175 Coiled coil
KW-0963 Cytoplasm
KW-0597 Phosphoprotein
KW-1185 Reference proteome

Interpro

InterPro ID InterPro Term
IPR004328 BRO1_dom
IPR038499 BRO1_sf
IPR011072 HR1_rho-bd
IPR036274 HR1_rpt_sf
IPR001478 PDZ
IPR036034 PDZ_sf

PROSITE

PROSITE ID PROSITE Term
PS51180 BRO1
PS50106 PDZ
PS51860 REM_1

Pfam

Pfam ID Pfam Term
PF03097 BRO1
PF02185 HR1

Protein-protein interaction

Protein-miRNA interaction