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Gene Gene information from NCBI Gene database.
Entrez ID 127707
Gene name Kelch domain containing 7A
Gene symbol KLHDC7A
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1p36.13
miRNA miRNA information provided by mirtarbase database.
106 Show/Hide all (106)
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VTJ3
Protein name Kelch domain-containing protein 7A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01344 Kelch_1 578 → 619 Kelch motif Repeat
PF01344 Kelch_1 530 → 576 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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (6)
Phenotype Name Clinical Significance Source Reference Evidence Score
BREAST CANCER — GWAS catalog 29059683, 32139696
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA — GWAS catalog 29059683, 32139696
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS — CTD 29915430
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY — GWAS catalog 21441570
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (7)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma CTD_human_DG 29915430
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 27607899
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetic Retinopathy Diabetic Retinopathy BEFREE 27607899
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast Breast Cancer CTD_human_DG 29915430
★★★★★
★☆☆☆☆
Found in Text Mining only
Mammary Carcinoma, Human Marfan Syndrome CTD_human_DG 29915430
★★★★★
★☆☆☆☆
Found in Text Mining only
Mammary Neoplasms Mammary Neoplasms CTD_human_DG 29915430
★★★★★
★☆☆☆☆
Found in Text Mining only
Mammary Neoplasms, Human Mammary Neoplasms CTD_human_DG 29915430
★★★★★
★☆☆☆☆
Found in Text Mining only