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FLASH GENE

Symbol

ZSWIM6

contributors: mct - updated : 28-08-2015

HGNC name	zinc finger, SWIM domain containing 6
HGNC id	29316

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AFND acromelic frontonasal dysostosis
Location	5q12.1      Physical location : 60.628.099 - 60.841.998
Synonym symbol(s)	KIAA1577

DNA

TYPE	functioning gene
STRUCTURE	213.90 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_020928 14 - 5519 NP_065979 133.5 1215 - 2014 2510522

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 Nervous brain         Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune lymphocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one SWIM-type zinc finger domain
	a BC-box (72–79 aa),
	a Cul2-box (99–107 aa),
	a Cut8/STS1-like domain (285–482 aa),
	and a C-terminal Sin-3 like domain (1.148–1.215 aa)

HOMOLOGY

Homologene

FAMILY

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION

basic FUNCTION	key role for ZSWIM6 in neuronal development and function, in addition to its putative roles in limb and craniofacial development
	role for ZSWIM6 in brain development and function

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AFND

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Zswim6 knockout mice have abnormal neocortical and striatal development with reduced cortical and striatal volumes, and alterations in the number and structure of medium spiny neurons in the striatum