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

Home Page

FLASH GENE

Symbol

PEX7

contributors: mct - updated : 08-06-2015

HGNC name	peroxisomal biogenesis factor 7
HGNC id	8860

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PBD7 peroxisomal biogenesis disorder, rhizomelic chondrodysplasia punctata spectrum RCDP1 rhizomelic chondrodysplasia punctata, type 1
Location	6q23.3      Physical location : 137.143.701 - 137.235.071
Synonym name	peroxin 7, complementation group 11 (KKI)
	PTS2 receptor
Synonym symbol(s)	HGNC0060, PTS2R

DNA

TYPE	functioning gene
STRUCTURE	91.37 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	with eight smaller alternatively spliced isoforms

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000288 10 - 1499 NP_000279 - 323 - -

EXPRESSION

Type	restricted

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 blood / hematopoietic spleen         Digestive intestine large intestine colon     Nervous brain

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N terminal sequence with no known structural motifs
	six consensus WD40 repeats

HOMOLOGY

interspecies

homolog to yeast Pts2 receptor

Homologene

FAMILY

CATEGORY

receptor , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,peroxisome
	intracellular,cytoplasm,cytosolic

basic FUNCTION	peroxisomal PTS2 receptor (peroxisome targeting signal 2), but unable to restore PTS2 protein import into peroxisomes in DP fibroblasts
	involved in peroxisomal import of proteins containing an N-terminal peroxisome-targeting signal (PTS2)
	cytosolic receptor that imports peroxisomal targeting signal type 2 (PTS2)-containing proteins

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

cellular trafficking transport

text	peroxisome

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	PEX5
	cytosolic receptor for peroxisome targeting signal 2 of peroxisomal matrix enzymes that are targeted to and translocated into the peroxisome
	interaction strength between cargo and PEX7 is drastically increased in the presence of the co-receptor PEX5L

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

RCDP1 , PBD7

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS