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FLASH GENE

Symbol

TMEM107

contributors: mct - updated : 24-08-2017

HGNC name	transmembrane protein 107
HGNC id	28128

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	JBTS29 Joubert syndrome 29 MKS13 Meckel syndrome 13 OFD16 Orofaciodigital syndrome XVI
Location	17p13.1      Physical location : 8.076.298 - 8.079.714
Synonym symbol(s)	MGC10744, GRVS638, PRO1268, MKS13, JBTS29

DNA

TYPE	functioning gene
STRUCTURE	3.42 kb     5 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_032354 5 - 1776 NP_115730 16 146 - 2012 2269854 NM_183065 5 - 1758 NP_898888 15.4 140 - 2012 2269854 NM_001351278 - - 2288 NP_001338207 - 139 - - NM_001351279 - - 2270 NP_001338208 - 133 - - NM_001351280 - - 2093 NP_001338209 - 74 - -

EXPRESSION

Type

expressed in	(based on citations)
organ(s)

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow

cell lineage
cell lines
fluid/secretion	blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton,intermed filament

basic FUNCTION	acts in combination with GLI2 and GLI3 to pattern ventral and intermediate neuronal cell types
	acts in the SHH pathway to determine digit number, but not identity, by regulating a subset of SHH target genes
	is a novel factor required for ciliogenesis and Sonic hedgehog signaling
	plays a key, conserved role in regulating ciliary protein composition

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

critical role of SCNM1 in maintaining the normal expression levels of the TMEM107 coding isoform

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

JBTS29 , OFD16 , MKS13

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS