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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	113730
Gene name	Kelch domain containing 7B
Gene symbol	KLHDC7B
Synonyms (NCBI Gene)	-
Chromosome	22
Chromosome location	22q13.33

Show/Hide all (49)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018395	hsa-miR-335-5p	Microarray	18185580
MIRT1097375	hsa-miR-105	CLIP-seq
MIRT1097376	hsa-miR-106a	CLIP-seq
MIRT1097377	hsa-miR-106b	CLIP-seq
MIRT1097378	hsa-miR-1231	CLIP-seq
MIRT1097379	hsa-miR-1289	CLIP-seq
MIRT1097380	hsa-miR-1321	CLIP-seq
MIRT1097381	hsa-miR-1324	CLIP-seq
MIRT1097382	hsa-miR-139-3p	CLIP-seq
MIRT1097383	hsa-miR-17	CLIP-seq
MIRT1097384	hsa-miR-188-3p	CLIP-seq
MIRT1097385	hsa-miR-20a	CLIP-seq
MIRT1097386	hsa-miR-20b	CLIP-seq
MIRT1097387	hsa-miR-3162-5p	CLIP-seq
MIRT1097388	hsa-miR-3175	CLIP-seq
MIRT1097389	hsa-miR-3691-3p	CLIP-seq
MIRT1097390	hsa-miR-3936	CLIP-seq
MIRT1097391	hsa-miR-3973	CLIP-seq
MIRT1097392	hsa-miR-4288	CLIP-seq
MIRT1097393	hsa-miR-4480	CLIP-seq
MIRT1097394	hsa-miR-4739	CLIP-seq
MIRT1097395	hsa-miR-4756-5p	CLIP-seq
MIRT1097396	hsa-miR-519d	CLIP-seq
MIRT1097397	hsa-miR-520g	CLIP-seq
MIRT1097398	hsa-miR-520h	CLIP-seq
MIRT1097399	hsa-miR-607	CLIP-seq
MIRT1097400	hsa-miR-629	CLIP-seq
MIRT1097401	hsa-miR-632	CLIP-seq
MIRT1097402	hsa-miR-93	CLIP-seq
MIRT2026429	hsa-miR-342-5p	CLIP-seq
MIRT2026430	hsa-miR-4417	CLIP-seq
MIRT2026431	hsa-miR-4651	CLIP-seq
MIRT2026432	hsa-miR-4664-5p	CLIP-seq
MIRT2026433	hsa-miR-4795-5p	CLIP-seq
MIRT2026434	hsa-miR-541	CLIP-seq
MIRT2026435	hsa-miR-608	CLIP-seq
MIRT2026436	hsa-miR-654-5p	CLIP-seq
MIRT2257530	hsa-miR-122	CLIP-seq
MIRT2257531	hsa-miR-1245b-3p	CLIP-seq
MIRT1097381	hsa-miR-1324	CLIP-seq
MIRT2257532	hsa-miR-3135b	CLIP-seq
MIRT2257533	hsa-miR-3198	CLIP-seq
MIRT2257534	hsa-miR-3652	CLIP-seq
MIRT2257535	hsa-miR-3689d	CLIP-seq
MIRT2257536	hsa-miR-4309	CLIP-seq
MIRT2257537	hsa-miR-4430	CLIP-seq
MIRT2257538	hsa-miR-4645-5p	CLIP-seq
MIRT2257539	hsa-miR-4673	CLIP-seq
MIRT2452649	hsa-miR-1912	CLIP-seq

Show/Hide all (1)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183

MIM	HGNC	e!Ensembl
620521	25145	ENSG00000130487

Q96G42

Protein name

Kelch domain-containing protein 7B

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01344	Kelch_1	343 → 392	Kelch motif	Repeat
PF01344	Kelch_1	394 → 435	Kelch motif	Repeat

Sequence

MVLRSHPFPRQDRPQGSVPRAVPGSPVGPSTSTHSEDRHGPSSSVGTVIGTGTGGLVEAG
GQPQPRSSETNGSPSPDPPPGLRGEGTREKSLDPLPQAAMPRGPAQPPAQRPPGPAASSS
ARRSQPVPQLRKRSRCEIAPSSEQEVRPAASGDPQGEAPGEGGSPAGRSGALTEKQEEAR
KLMVFLQRPGGWGVVEGPRKPSSRALEPATAAALRRRLDLGSCLDVLAFAQQHGEPGLAQ
ETYALMSDNLLRVLGDPCLYRRLSAADRERILSLRTGRGRAVLGVLVLPSLYQGGRSGLP
RGPRGEEPPAAAPVSLPLPAHLHVFNPRENTWRPLTQVPEEAPLRGCGLCTMHNYLFLAG
GIRGSGAKAVCSNEVFCYNPLTNIWSQVRPMQQARAQLKLVALDGLLYAIGGECLYSMEC
YDPRTDAWTPRAPLPAGTFPVAHEAVACRGDIYVTGGHLFYRLLRYSPVKDAWDECPYSA
SHRRSSDIVALGGFLYRFDLLRGVGAAVMRYNTVTGSWSRAASLPLPAPAPLHCTTLGNT
IYCLNPQVTATFTVSGGTAQFQAKELQPFPLGSTGVLSPFILTLPPEDRLQTSL

Sequence length

594

Interactions

View interactions

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)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
HEARING LOSS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (11)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Carcinoma	Breast Carcinoma	BEFREE	30150751, 30648789, 31452764		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30150751, 30648789, 35233733, 37747033, 40469997	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	31674080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	30150751	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	37475860	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30150751, 30648789, 31452764		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	31674080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31452764		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	31452764		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31452764		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	30648789	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

KLHDC7B (kelch domain containing 7B)