WDR49 (WD repeat domain 49)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
151790
Gene name Gene Name - the full gene name approved by the HGNC.
WD repeat domain 49
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
WDR49
Synonyms (NCBI Gene) Gene synonyms aliases
CFAP337
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q26.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the WD repeat protein family with nine WD repeats. 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 heterotrimeri
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 28514442, 33961781
GO:0005929 Component Cilium IEA
GO:0042995 Component Cell projection IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8IV35
Protein name Cilia- and flagella-associated protein 337 (WD repeat-containing protein 49)
Protein function Associates with components of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility, and might act as an inner dynein arm (IDA) hub or linkage.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 180 → 220 WD domain, G-beta repeat Repeat
PF00400 WD40 277 → 310 WD domain, G-beta repeat Repeat
Sequence 
MAWREKSKKRLNMTSFNIAQGIHAFDYHSRLNLIATAGINNKVCLWNPYVVSKPVGVLWG
HSASVIAVQFFVERKQLFSFSKDKVLRLWDIQHQLSIQRIACSFPKSQDFRCLFHFDEAH
GRLFISFNNQLALLAMKSEASKRVKSHEKAVTCVLYNSILKQVISSDTGSTVSFWMIDTG
QKIKQFTGCHGNAEISTMALDANETRLLTGSTDGTVKIWDFNGYCHHTLNVGQDGAVDIS
QILILKKKILVTGWERAITVFRPQNFNQFFIQPEEWKGGIQHHDDILCAAFLPPQTLVTG
SYDGEIVLWNNSTENAHHVLHPDYQRLLKSKLDTKPQKLLSAGRSQPSHPMADHSTTGVR
NFEIDTEGKNAVMRLCFLKARKNTAVTGGANLVSCGGSGYVRFWDIYKKQLLAEFLAHSG
VGSIIMSTDKMNRYLTTGDLDGWLKIWNIEEYCLNSSKNKITKAPTLIRSFQPHEDRISS
LEMCEPGGQLLIISSSADCSICVTGVCNAPVWIFGQAKHWHIENCLFLPKRDTNLVESEI
QKEISLFSKEESCLDPTEHSLLNKKNKDDSTYNVRPSEDINLDIKYKERSTCMKETQKPY
YGEVIKKSFSTFRSLNIGALEELPEVNKPAFLLDPEKYFRKEPEEERPQILEAPSLFKTL
KAVFDEKNLFPKEILHHERKAKQLCQEKSCEVKKNKK
Sequence length 697
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
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.
Disease merge term Disease name Evidence References Source
Bipolar Disorder Bipolar I disorder N/A N/A GWAS
Prostate cancer Prostate cancer N/A N/A GWAS
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Pregnancy Ectopic Associate 33771330
Pregnancy in Diabetics Associate 33771330