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FLASH GENE

Symbol

B9D2

contributors: mct - updated : 25-10-2011

HGNC name	B9 protein domain 2
HGNC id	28636

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MKS10 Meckel syndrome 10
Location	19q13.2      Physical location : 41.860.321 - 41.870.078
Synonym name	Involved in CIlia Stability-1
	stumpy
Synonym symbol(s)	ICIS-1, MGC4093, MKS10, MKSR2

DNA

TYPE	functioning gene
SPECIAL FEATURE	gene in gene
text	localized within the TGF-beta1 promoter
STRUCTURE	9.76 kb     4 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_030578 4 - 1049 - 175 - 2007 17127412

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 neuroendocrine pituitary     highly   parathyroid       highly Respiratory respiratory tract larynx     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

presence of a B9 domain, occuring exclusively within a family of three proteins distributed widely in ciliated organisms

HOMOLOGY

interspecies

homolog to murine Stumpy

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,nucleus
text	localize to transition zones/basal bodies of sensory cilia

basic FUNCTION	associated with ciliated cells and potentially related to cilia stability
	playing a critical role for the proper elongation of cilia
	function redundantly with the nephrocystins to regulate the formation and/or maintenance of cilia and dendrites in the amphid and phasmid ciliated sensory neurons
	having a role in basal body anchoring and establishing a ciliary gate during ciliogenesis
	Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos
	B9D2, INVS, and IQCB1 support the transport of a cargo protein, Opsin, but not another photoreceptor ciliary transmembrane protein, Peripherin (PHPN)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

B9D1 and B9D2 are essential components of a B9 protein complex, disrupted in Meckel syndrome

INTERACTION

DNA

RNA

small molecule

protein	functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (B9D1, B9D2) proteins
	B9D2, INVS, and IQCB1 support the transport of a cargo protein, Opsin, but not another photoreceptor ciliary transmembrane protein, PRPH

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MKS10

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   during mucociliary differentiation

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS