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FLASH GENE

Symbol

GCM2

contributors: mct/shn - updated : 30-11-2016

HGNC name	glial cells missing homolog 2 (Drosophila)
HGNC id	4198

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	8.64 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - D6S410 - D6S470 - GCM2 - D6S1034 - D6S1721 - cen

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004752 5 - 2379 NP_004743 - 506 - 2015 25917456

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 Endocrine parathyroid       specific Homo sapiens Urinary kidney       specific Homo sapiens

cell lineage
cell lines	D283 Med, D341 Med (
fluid/secretion

at STAGE

physiological period

fetal

Text

brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal DNA binding motif called the GCM motif containing seven cysteine and four histidine residues retaining the same relative spacing
	a nuclear bipartite localization signal (NLS)
	three potential PEST motifs
	a DNA-binding domain, transactivation domain I, an inhibitory domain and transactivation domain II (Canaff 2009)
	a small C-terminal conserved inhibitory domain (CCID)

HOMOLOGY

interspecies	homolog to Drosophila glial cells missing gene
	ortholog to Gcm2, Mus musculus
	ortholog to gcm2, Danio rerio
	ortholog to Gcm2, Rattus norvegicus
	ortholog to GCM2, pan troglodytes

Homologene

FAMILY

small transcription factor family

CATEGORY

DNA associated , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	a master regulatory gene of parathyroid gland development (
	expressed in parathyroid tissue beyond embryonic development but may have regulatory roles in parathyroid gland biology later in life
	transcription factor expressed in the parathyroid
	hormone (PTH)- secreting cells of the parathyroid gland
	and is essential for their development (Canaff 2009)
	involved in the epigenetic regulation of Hes5 transcription by DNA demethylation independently of DNA replication
	is a transcription factor that is expressed predominantly in the pharyngeal pouches and, at later stages, in the developing and mature parathyroid glands
	transcription factor required for parathyroid development
	might also likely be involved in the pathogenesis of sporadic parathyroid adenomas

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

text	organogenesis

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	MAFB interacts with GCM2 and regulates parathyroid hormone expression and parathyroid development
	GATA3 interacted with GCM2 and MAFB, two known transcriptional regulators of parathyroid development, and synergistically stimulated the PTH promoter

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

FIHP , HRPT4

Susceptibility

to primary hyperparathyroidism (PHPT)

Variant & Polymorphism SNP	higher frequency of GCM2 282D in PHPT and enhanced transcriptional activity of this variant supports the notion that it could contribute causally to parathyroid tumorigenesis

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed osteoarticular bone   is a possible target for pharmacologic manipulation of PTH excess or deficiency

ANIMAL & CELL MODELS

	Gcm2-deficient mice are viable and fertile but lack parathyroid glands and exhibit a biological hypoparathyroidism (
	Loss of Gcm1 gene result in the impaired induction of mouse neural stem cells (
	in mice, homozygous disruption of Gcm2 by conventional gene targeting results in parathyroid aplasia and hypoparathyroidism