Gene: TWF2

Basic information

Tag Content
Uniprot ID Q6IBS0; Q9Y3F5;
Entrez ID 11344
Genbank protein ID AAH00327.1; CAG38551.1; AAH03161.1; AAH16452.1; CAG33013.1; AAQ13513.1; CAB66707.1; CAB38055.1;
Genbank nucleotide ID NM_007284.3
Ensembl protein ID ENSP00000303908
Ensembl nucleotide ID ENSG00000247596
Gene name Twinfilin-2
Gene symbol TWF2
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Actin-binding protein involved in motile and morphological processes. Inhibits actin polymerization, likely by sequestering G-actin. By capping the barbed ends of filaments, it also regulates motility. Seems to play an important role in clathrin-mediated endocytosis and distribution of endocytic organelles. May play a role in regulating the mature length of the middle and short rows of stereocilia (By similarity).
Sequence
MAHQTGIHAT EELKEFFAKA RAGSVRLIKV VIEDEQLVLG ASQEPVGRWD QDYDRAVLPL 60
LDAQQPCYLL YRLDSQNAQG FEWLFLAWSP DNSPVRLKML YAATRATVKK EFGGGHIKDE 120
LFGTVKDDLS FAGYQKHLSS CAAPAPLTSA ERELQQIRIN EVKTEISVES KHQTLQGLAF 180
PLQPEAQRAL QQLKQKMVNY IQMKLDLERE TIELVHTEPT DVAQLPSRVP RDAARYHFFL 240
YKHTHEGDPL ESVVFIYSMP GYKCSIKERM LYSSCKSRLL DSVEQDFHLE IAKKIEIGDG 300
AELTAEFLYD EVHPKQHAFK QAFAKPKGPG GKRGHKRLIR GPGENGDDS 349

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.

Gene expression information

Gene expression in different tissues (GTEx V7)