Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	89891
Gene name Gene Name - the full gene name approved by the HGNC.	Dynein 2 intermediate chain 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DYNC2I2
Synonyms (NCBI Gene) Gene synonyms aliases	CFAP133, DIC5, FAP133, SRTD11, WDR34, bA216B9.3
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q34.11
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein com

Show/Hide all(36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 27173435, 30649997, 31451806, 32296183, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IDA	25205765
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	25205765
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IEA
GO:0005814	Component	Centriole	ISS
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005868	Component	Cytoplasmic dynein complex	IBA
GO:0005868	Component	Cytoplasmic dynein complex	IDA	25205765, 25830415, 31451806
GO:0005868	Component	Cytoplasmic dynein complex	IEA
GO:0005929	Component	Cilium	IDA	25205765
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	TAS
GO:0005930	Component	Axoneme	IEA
GO:0005930	Component	Axoneme	ISS
GO:0016604	Component	Nuclear body	IDA
GO:0030175	Component	Filopodium	IEA
GO:0031965	Component	Nuclear membrane	IDA
GO:0035721	Process	Intraciliary retrograde transport	IEA
GO:0035721	Process	Intraciliary retrograde transport	IMP	29742051, 30649997
GO:0036064	Component	Ciliary basal body	IDA	25205765
GO:0036064	Component	Ciliary basal body	IEA
GO:0036064	Component	Ciliary basal body	ISS
GO:0042073	Process	Intraciliary transport	IBA
GO:0042995	Component	Cell projection	IEA
GO:0045503	Function	Dynein light chain binding	IBA
GO:0045503	Function	Dynein light chain binding	IPI	25830415
GO:0045504	Function	Dynein heavy chain binding	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IGI	25205765
GO:0097014	Component	Ciliary plasm	IBA
GO:0097542	Component	Ciliary tip	TAS

MIM	HGNC	e!Ensembl
613363	28296	ENSG00000119333

Protein

UniProt ID

Q96EX3

Protein name

Cytoplasmic dynein 2 intermediate chain 2 (Dynein 2 intermediate chain 2) (WD repeat-containing protein 34)

Protein function

Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 2 complex (dynein-2 complex), a motor protein complex that drives the movement of cargos along microtubules within cilia and flagella in concert with the intrafl

PDB

6RLB , 6SC2 , 8RGG , 8RGH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	384 → 421	WD domain, G-beta repeat	Repeat
PF00400	WD40	472 → 511	WD domain, G-beta repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Expressed in several cell lines (at protein level). {ECO:0000269|PubMed:19521662}.

Sequence

MATRAQPGPLSQAGSAGVAALATVGVASGPGPGRPGPLQDETLGVASVPSQWRAVQGIRW
ETKSCQTASIATASASAQARNHVDAQVQTEAPVPVSVQPPSQYDIPRLAAFLRRVEAMVI
RELNKNWQSHAFDGFEVNWTEQQQMVSCLYTLGYPPAQAQGLHVTSISWNSTGSVVACAY
GRLDHGDWSTLKSFVCAWNLDRRDLRPQQPSAVVEVPSAVLCLAFHPTQPSHVAGGLYSG
EVLVWDLSRLEDPLLWRTGLTDDTHTDPVSQVVWLPEPGHSHRFQVLSVATDGKVLLWQG
IGVGQLQLTEGFALVMQQLPRSTKLKKHPRGETEVGATAVAFSSFDPRLFILGTEGGFPL
KCSLAAGEAALTRMPSSVPLRAPAQFTFSPHGGPIYSVSCSPFHRNLFLSAGTDGHVHLY
SMLQAPPLTSLQLSLKYLFAVRWSPVRPLVFAAASGKGDVQLFDLQKSSQKPTVLIKQTQ
DESPVYCLEFNSQQTQLLAAGDAQGTVKVWQLSTEFTEQGPREAEDLDCLAAEVAA

Sequence length

536

Interactions

View interactions

	Reactome
			Intraflagellar transport

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Jeune Thoracic Dystrophy	jeune thoracic dystrophy	rs1554770453, rs1554771175, rs555811074	N/A
Short-Rib Thoracic Dysplasia With Or Without Polydactyly	short-rib thoracic dysplasia 11 with or without polydactyly	rs587777091, rs587777092, rs587777093, rs555811074, rs587777094, rs763975565, rs587777095, rs753802842, rs431905519, rs759150616, rs587777097, rs1860309810, rs587777098	N/A
Asphyxiating Thoracic Dystrophy	Asphyxiating thoracic dystrophy 3	rs1554770620, rs1554771066	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Jeune Syndrome	Jeune syndrome	N/A	N/A	GenCC
retinal dystrophy	Retinal dystrophy	N/A	N/A	ClinVar
Short Rib-Polydactyly Syndrome	short rib-polydactyly syndrome, Verma-Naumoff type	N/A	N/A	GenCC

DYNC2I2 (dynein 2 intermediate chain 2)