Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
127707
Gene name Gene Name - the full gene name approved by the HGNC.
Kelch domain containing 7A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KLHDC7A
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.13
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT1097348 hsa-miR-1208 CLIP-seq
MIRT1097349 hsa-miR-145 CLIP-seq
MIRT1097350 hsa-miR-1825 CLIP-seq
MIRT1097351 hsa-miR-1910 CLIP-seq
MIRT1097352 hsa-miR-194 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0016020 Component Membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
UniProt ID Q5VTJ3
Protein name Kelch domain-containing protein 7A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01344 Kelch_1 530 576 Kelch motif Repeat
PF01344 Kelch_1 578 619 Kelch motif Repeat
Sequence
MFPRGAEAQDWHLDMQLTGKVVLSAAALLLVTVAYRLYKSRPAPAQRWGGNGQAEAKEEA
EGSGQPAVQEASPGVLLRGPRRRRSSKRAEAPQGCSCENPRGPYVLVTGATSTDRKPQRK
GSGEERGGQGSDSEQVPPCCPSQETRTAVGSNPDPPHFPRLGSEPKSSPAGLIAAADGSC
AGGEPSPWQDSKPREHPGLGQLEPPHCHYVAPLQGSSDMNQSWVFTRVIGVSREEAGALE
AASDVDLTLHQQEGAPNSSYTFSSIARVRMEEHFIQKAEGVEPRLKGKVYDYYVESTSQA
IFQGRLAPRTAALTEVPSPRPPPGSLGTGAASGGQAGDTKGAAERAASPQTGPWPSTRGF
SRKESLLQIAENPELQLQPDGFRLPAPPCPDPGALPGLGRSSREPHVQPVAGTNFFHIPL
TPASAPQVRLDLGNCYEVLTLAKRQNLEALKEAAYKVMSENYLQVLRSPDIYGCLSGAER
ELILQRRLRGRQYLVVADVCPKEDSGGLCCYDDEQDVWRPLARMPPEAVSRGCAICSLFN
YLFVVSGCQGPGHQPSSRVFCYNPLTGIWSEVCPLN
QARPHCRLVALDGHLYAIGGECLN
SVERYDPRLDRWDFAPPLP
SDTFALAHTATVRAKEIFVTGGSLRFLLFRFSAQEQRWWAG
PTGGSKDRTAEMVAVNGFLYRFDLNRSLGIAVYRCSASTRLWYECATYRTPYPDAFQCAV
VDNLIYCVGRRSTLCFLADSVSPRFVPKELRSFPAPQGTLLPTVLTLPTPDLPQTRV
Sequence length 777
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)
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
Breast Cancer Breast cancer N/A N/A GWAS
Diabetic Retinopathy Diabetic retinopathy N/A N/A GWAS
Mental Depression Major depressive disorder N/A N/A GWAS