Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

IFT52

contributors: mct - updated : 28-08-2017

HGNC name	intraflagellar transport 52 homolog (Chlamydomonas)
HGNC id	15901

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SRTD16 Short rib thoracic dysplasia 16 with or without polydactyly
Location	20q13.12      Physical location : 42.219.578 - 42.275.861
Synonym name	chromosome 20 open reading frame 9
	protein NGD5 homolog
Synonym symbol(s)	NGD5, CGI-53, LOC51098, C20orf9, NGD2, NGD5

DNA

TYPE	functioning gene
STRUCTURE	56.68 kb     14 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001323578 14 - 2218 NP_001310507 - 261 - 2016 27466190 NM_001323579 15 - 2188 NP_001310508 - 220 - 2016 27466190 NM_016004 14 - 2075 NP_057088 - 437 - 2016 27466190 NM_001323580 14 - 2193 NP_001310509 - 261 - 2016 27466190 NM_001323581 15 - 2163 NP_001310510 - 220 - 2016 27466190 NM_001303458 14 - 2050 NP_001290387 - 437 - 2016 27466190 NM_001303459 13 - 1904 NP_001290388 - 373 - 2016 27466190

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine parathyroid         Lymphoid/Immune lymph node         Reproductive female system ovary

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose       Nervous

cell lineage
cell lines
fluid/secretion	blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

homolog to murine Ift52 (92.0pc)

Homologene

FAMILY

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome

basic FUNCTION	the IFT components IFT52 and IFT57 were found to act together with IFT20 to regulate T cell antigen receptor (TCR) and transferrin receptor (TfR) recycling
	is essential for anterograde complex integrity and for the biosynthesis and maintenance of cilia
	IFT52 and IFT46 can preassemble as a complex in the cytoplasm, which is then targeted to basal bodies

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	IFT88, IFT52, and IFT46, interact directly with each other and, together, are capable of forming a ternary complex
	IFT52 binds directly to four other IFT-B subunits, IFT81/74/27/HSPB11
	C2CD3 is also required for recruiting the intraflagellar transport proteins IFT88 and IFT52 to the mother centriole
	IFT52 and IFT57 were found to act together with IFT20 to regulate T cell antigen receptor (TCR)and transferrin receptor (TFRC) recycling
	IFT88, together with the N-terminal domain of IFT52, is necessary to bridge the interaction between IFT-B1 and B2 (IFT-B1 (core) and IFT-B2 (peripheral) for the two IFT-B subcomplexes)
	direct binding of IFT complex B proteins IFT52 and IFT57 to the N-terminal ankyrin repeats and the central domain of USH1G

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SRTD16

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS