PRICKLE2
entrez
166336
canonical
uniprot
Q7Z3G6
canonical
ensembl
ENSG00000163637
resolver
ensp
ENSP00000455004
resolver
ensp
ENSP00000492363
resolver
ensp
ENSP00000640311
resolver
enst
ENST00000564377
resolver
enst
ENST00000638394
resolver
enst
ENST00000970252
resolver
genesymbol
PRICKLE2
resolver
hgnc
HGNC:20340
resolver
uniprot
Q0VF44
resolver
uniprot_entry
PRIC2_HUMAN
resolver
uniprot_sec
Q0VF44
resolver
amino_acid_sequence
MVTVMPLEMEKTISKLMFDFQRNSTSDDDSGCALEEYAWVPPGLKPEQVHQYYSCLPEEKVPYVNSPGEKLRIKQLLHQLPPHDNEVRYCNSLDEEEKRELKLFSSQRKRENLGRGNVRPFPVTMTGAICEQCGGQINGGDIAVFASRAGHGVCWHPPCFVCTVCNELLVDLIYFYQDGKIYCGRHHAECLKPRCAACDEIIFADECTEAEGRHWHMKHFCCFECETVLGGQRYIMKEGRPYCCHCFESLYAEYCDTCAQHIGIDQGQMTYDGQHWHATETCFCCAHCKKSLLGRPFLPKQGQIFCSRACSAGEDPNGSDSSDSAFQNARAKESRRSAKIGKNKGKTEEPMLNQHSQLQVSSNRLSADVDPLSLQMDMLSLSSQTPSLNRDPIWRSREEPYHYGNKMEQNQTQSPLQLLSQCNIRTSYSPGGQGAGAQPEMWGKHFSNPKRSSSLAMTGHAGSFIKECREDYYPGRLRSQESYSDMSSQSFSETRGSIQVPKYEEEEEEEGGLSTQQCRTRHPISSLKYTEDMTPTEQTPRGSMESLALSNATGLSADGGAKRQEHLSRFSMPDLSKDSGMNVSEKLSNMGTLNSSMQFRSAESVRSLLSAQQYQEMEGNLHQLSNPIGYRDLQSHGRMHQSFDFDGGMAGSKLPGQEGVRIQPMSERTRRRATSRDDNRRFRPHRSRRSRRSRSDNALHLASEREAISRLKDRPPLRAREDYDQFMRQRSFQESMGHGSRRDLYGQCPRTVSDLALQNAFGDRWGPYFAEYDWCSTCSSSSESDNEGYFLGEPIPQPARLRYVTSDELLHKYSSYGLPKSSTLGGRGQLHSRKRQKSKNCIIS
uniprot
proteins
disease_involvement
DISEASE: Note=PRICKLE2 mutations have been found in patients with myoclonic epilepsy but involvement of this gene in pathogenesis is under debate since some of the patients also carry POLG mutations. {ECO:0000269|PubMed:21276947, ECO:0000269|PubMed:26942291, ECO:0000269|PubMed:26942292}.
uniprot
proteins
function
FUNCTION: Is involved in the organization and maintenance of axon initial segment (AIS) architecture, likely cooperating with IGSF9B to regulate ANK3/ANKG localization to AIS (By similarity). By binding to and regulating ANK3/ANKG, it modulates its ability to bundle microtubules, a crucial mechanism for establishing neuronal polarity and AIS formation (By similarity). During early embryonic development, has a role in blastocyst formation, likely controlling the redistribution of the microtubule network during embryo compaction and the establishment of apical/basal cell polarity (By similarity). {ECO:0000250|UniProtKB:A6IBC5, ECO:0000250|UniProtKB:Q80Y24}.
uniprot
proteins
mass_dalton
95615
uniprot
proteins
protein_family
Prickle / espinas / testin family
uniprot
proteins
pubmed
12525887
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17411337
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21276947
uniprot
proteins
pubmed
26942291
uniprot
proteins
pubmed
26942292
uniprot
proteins
sequence_length
844
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Postsynaptic density {ECO:0000250|UniProtKB:A6IBC5}. Cell projection, axon {ECO:0000250|UniProtKB:Q80Y24}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q80Y24}. Nucleus {ECO:0000250|UniProtKB:Q80Y24}. Note=In the axon, strongly expressed in the axon initial segment (AIS) (By similarity). Detected in the nucleus of 2-cell-stage till 16-cell-stage embryos; nuclear expression decreases from the 16-cell stage onwards (By similarity). {ECO:0000250|UniProtKB:A6IBC5, ECO:0000250|UniProtKB:Q80Y24}.
uniprot
proteins