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FLASH GENE

Symbol

C21orf91

contributors: mct - updated : 03-05-2021

HGNC name	chromosome 21 open reading frame 91
HGNC id	16459

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	21q21.1      Physical location : 19.161.284 - 19.191.703
Synonym name	chromosome 21 open reading frame 14
	chromosome 21 open reading frame 38
	EURL protein homolog
	cold sore susceptibility gene 1
	early undifferentiated retina and lens
Synonym symbol(s)	YG81, C21orf14, C21orf38, EURL, DKFZp781D1223, CSS-G1

DNA

TYPE	functioning gene
STRUCTURE	30.38 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_001100421 4 - 5333 NP_001093891 - 221 - 2016 27404227 NM_017447 5 - 5393 NP_059143 - 296 - 2016 27404227 NM_001100420 5 - 5396 NP_001093890 - 297 - 2016 27404227

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 Nervous brain forebrain cerebral cortex     Homo sapiens Fetal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

EURL family

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION

basic FUNCTION	is an important new player in neuronal development that is likely to impact on the neuropathogenesis of HSA21-related disorders including Down Syndrome
	important for accurate oligodendroglial differentiation, influencing their capacity to mature and to myelinate axons

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

C21orf91 interacts with the coiled-coil domain-containing protein CCDC85B so as to modulate CTNNB1 levels in cells

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   elevated C21orf91 expression levels induce a gliogenic shift towards the astrocytic lineage reflecting non-equilibrated glial cell populations in Down syndrome brains

Susceptibility

to cold sore

Variant & Polymorphism	different alleles of the newly described gene C21orf91 affect the expression of cold sore phenotypes

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS