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FLASH GENE

Symbol

PANK2

contributors: mct - updated : 26-10-2016

HGNC name	pantothenate kinase 2
HGNC id	15894

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HARP hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa and pallidal degeneration PKAN pantothenate kinase-associated neurodegeneration
Location	20p13      Physical location : 3.869.485 - 3.904.501
Synonym name	pantothenic acid kinase
	neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)
	pantothenate kinase 2, mitochondrial
Synonym symbol(s)	NBIA1, C20orf48, FLJ11729, FLJ17232, MGC15053, HARP, HSS, PKAN
EC.number	2.7.1.33

DNA

TYPE	functioning gene
STRUCTURE	41.04 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter (CAAT box)
	cytosine-phosphate-guanine/HTF
text structure	six exons for the core protein preceded by a series of alternative exons, including only one 1C with an open reading frame in frame to exon 2
	GC-rich PANK2 promoter that drives expression of the sPANK2 isoform, regulated by NFYA, NFYB, NFYC, FOXN4 and HNRNPAB
	presence of an additional TATA-dependent PANK2 promoter would provide an intriguing mechanism for tissue specific expression of the pPANK2 isoform
	promoter may be regulated by NFYA, NFYB, NFYC

MAPPING

cloned

Y

linked

N

status

provisional

Map

see NBIA1

RNA

TRANSCRIPTS	type	messenger

text	its expression is driven by a TATA-less promoter

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_024960 7 splicing 1712 NP_079236 - 279 - 2010 20603201 also called PANK2 short GFP; sPANK2 located in the cytoplasm only non-functional cytosolic PANK2 isoform NM_153638 7 splicing 2280 NP_705902 48 570 . detected in cortical brain 2010 20603201 PANK2 long GFP; mPANK2 located in the mitochondria and nucleus NM_153640 7 splicing 1763 NP_705904 - 279 not expressed in mitochondria 2010 20603201 non-functional cytosolic PANK2 isoform NM_001324191 8 - 8549 NP_001311120 - 279 - 2010 20603201 NM_001324193 7 - 7674 NP_001311122 - 134 - 2010 20603201 NM_001324192 2 - 1506 NP_001311121 - 331 - 2010 20603201

EXPRESSION

Type	ubiquitous

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 Cardiovascular heart         Endocrine parathyroid       highly   thyroid       highly Lymphoid/Immune lymph node       highly Respiratory respiratory tract larynx     highly Urinary kidney         Visual eye retina

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

neonatal

Text	infantile basal ganglion

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

isoforms

Precursor

pPANK2 identified in brain tissues

HOMOLOGY

interspecies	ortholog to murine Pank2
	ortholog to Drosophila fumble

intraspecies

paralog to PANKs

Homologene

FAMILY

type II pantothenate kinase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,interspace
	intracellular,cytoplasm,cytosolic
text	PANK2 short GFP in the cytoplasm only
	PANK2 long GFP in the mitochondria and nucleus

basic FUNCTION	a mitochondrial enzyme that catalyses the first regulatory step of Coenzyme A synthesis
	catalyzing the cytosolic phosphorylation of pantothenate (vitamin B5) and derivatives
	essential regulatory enzyme in coenzyme A biosynthesis
	plays a central role in phospholipid synthesis and membranogenesis
	encodes a mitochondrial protein involved in Coenzyme A synthesis
	PANK1 and PANK2 can compensate for each other to supply tissue CoA, but PANK1 is more important to CoA levels in liver whereas PANK2 contributes more to CoA synthesis in the brain

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

vitamin

signaling

sensory transduction/vision

regulatory enzyme in CoA biosynthesis

a component

INTERACTION

DNA

RNA

small molecule

protein

potential regulators of PANK2 expression, including NFY, FOXN4 and the human heterogeneous nuclear ribonucleoprotein A/B family

cell & other

REGULATION

activated by

palmitoylcarnitine, a potent activator of PANK2 that functions to competitively antagonize acetyl-CoA inhibition

ASSOCIATED DISORDERS

corresponding disease(s)

PKAN , HARP

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   causes cell growth reduction, cell-specific ferroportin upregulation and iron deregulation

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Pank2(-/-) mouse model did not recapitulate the human disease but showed azoospermia and mitochondrial dysfunctions