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FLASH GENE

Symbol

TMEM67

contributors: mct/pgu - updated : 03-04-2024

HGNC name	transmembrane protein 67
HGNC id	28396

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	COACH3 COACH syndrome 3 JBTS6 Joubert syndrome 6 MKS3 Meckel-Gruber syndrome, type 3 NPHP11 nephronophthisis 11
Location	8q22.1      Physical location : 94.767.071 - 94.831.458
Synonym name	meckelin
	Meckel syndrome type 3 protein
Synonym symbol(s)	MGC26979, MKS3

DNA

TYPE	functioning gene
STRUCTURE	63.27 kb     29 Exon(s)

regulatory sequence	Promoter
text structure	promoter sequence contains an X-box motif, a sequence known to be involved in the regulation of primary ciliary genes in C. elegans

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_153704 28 - 4744 NP_714915 - 995 - 2002 12384791 NM_001142301 29 - 4675 NP_001135773 - 914 - 2002 12384791

EXPRESSION

Type

widely

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       highly Digestive gallbladder         Reproductive male system testis     highly Urinary kidney tubule convoluted tubule proximal tubule

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial absorptive excretory renal tubular epithelium

cells

System Cell Pubmed Species Stage Rna symbol Digestive epithelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

in the cartilage of developing limbs, in large intrahepatic bile ducts (Fig. 1G and I) and in the outer layer of the developing retina particularly in the digits, the cartilaginous cervical vertebrae, the bronchioles of the lung, intestine, stomach and kidney, in large intrahepatic bile ducts and in the outer layer of the developing retina

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

N-terminal extracellular domain of meckelin is particularly rich in cysteine residues

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY

CATEGORY

receptor membrane

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic,vesicle
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
text	localized both to the primary cilium and to the plasma membrane in ciliated cell-lines and primary cells

basic FUNCTION	mediating a fundamental developmental stage of ciliary formation and epithelial morphogenesis
	implicated in mediating primary ciliary function
	possible role for the extracellular domain of meckelin in mediating intracellular transport from the ER
	required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication
	is required for endoplasmic reticulum-associated degradation of surfactant protein C
	having a role in basal body anchoring and establishing a ciliary gate during ciliogenesis
	important role for meckelin in intraciliary transport of phototransduction molecules and their effects on subsequent outer segment morphogenesis and maintenance

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

formed a complex with Meckelin (TMEM67)

INTERACTION

DNA

RNA

small molecule

protein	ER lumenal domain of MKS3 interacted with a complex that included mutant SFTPC and associated chaperones, whereas the region predicted to encode the transmembrane domains of MKS3 interacted with cytosolic VCP
	interacting with MKS1, a soluble protein
	TMEM67 forms a functional complex with FLNA that is disrupted in MKS3 and causes defects in neuronal migration and Wnt signalling

cell & other

REGULATION

Other

up-regulated by ER stress

ASSOCIATED DISORDERS

corresponding disease(s)

MKS3 , JBTS6 , NPHP11 , COACH3

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS