KBTBD4 (kelch repeat and BTB domain containing 4)

Gene

• Entrez ID: 55709
• Gene name: Kelch repeat and BTB domain containing 4
• Gene symbol: KBTBD4
• Synonyms (NCBI Gene): BKLHD4, HSPC252
• Chromosome: 11
• Chromosome location: 11p11.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT040842	hsa-miR-18a-3p	CLASH	23622248
MIRT2019842	hsa-miR-1276	CLIP-seq
MIRT2019843	hsa-miR-2278	CLIP-seq
MIRT2019844	hsa-miR-3166	CLIP-seq
MIRT2019845	hsa-miR-4468	CLIP-seq
MIRT2019846	hsa-miR-485-5p	CLIP-seq
MIRT2251700	hsa-miR-1827	CLIP-seq
MIRT2251701	hsa-miR-3127-5p	CLIP-seq
MIRT2251702	hsa-miR-3202	CLIP-seq
MIRT2251703	hsa-miR-4270	CLIP-seq
MIRT2251704	hsa-miR-4441	CLIP-seq
MIRT2251705	hsa-miR-4446-3p	CLIP-seq
MIRT2251706	hsa-miR-4649-3p	CLIP-seq
MIRT2251707	hsa-miR-4656	CLIP-seq
MIRT2251708	hsa-miR-4747-5p	CLIP-seq
MIRT2554998	hsa-miR-1252	CLIP-seq
MIRT2554999	hsa-miR-1261	CLIP-seq
MIRT2555000	hsa-miR-15a	CLIP-seq
MIRT2555001	hsa-miR-15b	CLIP-seq
MIRT2555002	hsa-miR-16	CLIP-seq
MIRT2555003	hsa-miR-195	CLIP-seq
MIRT2555004	hsa-miR-219-1-3p	CLIP-seq
MIRT2555005	hsa-miR-223	CLIP-seq
MIRT2555006	hsa-miR-3134	CLIP-seq
MIRT2555007	hsa-miR-3140-5p	CLIP-seq
MIRT2555008	hsa-miR-3154	CLIP-seq
MIRT2555009	hsa-miR-424	CLIP-seq
MIRT2555010	hsa-miR-4274	CLIP-seq
MIRT2555011	hsa-miR-4277	CLIP-seq
MIRT2555012	hsa-miR-4452	CLIP-seq
MIRT2019845	hsa-miR-4468	CLIP-seq
MIRT2555013	hsa-miR-4663	CLIP-seq
MIRT2555014	hsa-miR-4680-3p	CLIP-seq
MIRT2555015	hsa-miR-4697-3p	CLIP-seq
MIRT2555016	hsa-miR-4777-5p	CLIP-seq
MIRT2555017	hsa-miR-4793-5p	CLIP-seq
MIRT2555018	hsa-miR-497	CLIP-seq
MIRT2555019	hsa-miR-498	CLIP-seq
MIRT2555020	hsa-miR-518d-5p	CLIP-seq
MIRT2555021	hsa-miR-519b-5p	CLIP-seq
MIRT2555022	hsa-miR-519c-5p	CLIP-seq
MIRT2555023	hsa-miR-520c-5p	CLIP-seq
MIRT2555024	hsa-miR-526a	CLIP-seq
MIRT2555025	hsa-miR-570	CLIP-seq
MIRT2554999	hsa-miR-1261	CLIP-seq
MIRT2555006	hsa-miR-3134	CLIP-seq
MIRT2555008	hsa-miR-3154	CLIP-seq
MIRT2555025	hsa-miR-570	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32814053

Other IDs

• MIM: 617645
• HGNC: 23761
• e!Ensembl: ENSG00000123444

Protein

• UniProt ID: Q9NVX7
• Protein name: Kelch repeat and BTB domain-containing protein 4 (BTB and kelch domain-containing protein 4)
• Protein function: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex which targets CoREST corepressor complex components RCOR1, KDM1A/LSD1 and HDAC2 for proteasomal degradation (PubMed:33417871). RCOR1 is likely to be the primary targ
• PDB: 2EQX, 8VOJ, 8VPQ, 8VRT, 9DTG, 9DTQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00651	BTB	35 → 141	BTB/POZ domain	Domain
  PF07707	BACK	147 → 234	BTB And C-terminal Kelch	Domain
  PF13964	Kelch_6	317 → 368		Repeat

• Sequence:

  MESPEEPGASMDENYFVNYTFKDRSHSGRVAQGIMKLCLEEELFADVTISVEGREFQLHR
  LVLSAQSCFFRSMFTSNLKEAHNRVIVLQDVSESVFQLLVDYIYHGTVKLRAEELQEIYE
  VSDMYQLTSLFEECSRFLARTVQVGNCLQVMWLADRHSDPELYTAAKHCAKTHLAQLQNT
  EEFLHLPHRLLTDIISDGVPCSQNPTEAIEAWINFNKEEREAFAESLRTSLKEIGENVHI
  YLIGKESSRTHSLAVSLHCAEDDSISVSGQNSLCHQITAACKHGGDLYVVGGSIPRRMWK
  CNNATVDWEWCAPLPRDRLQHTLVSVPGKDAIYSLGGKTLQDTLSNAVIYYRVGDNVWTE
  TTQLEVAVSGAAGANLNGIIYLLGGEENDLDFFTKPSRLIQCFDTETDKCHVKPYVLPFA
  GRMHAAVHKDLVFIVAEGDSLVCYNPLLDSFTRLCLPEAWSSAPSLWKIASCNGSIYVFR
  DRYKKGDANTYKLDPATSAVTVTRGIKVLLTNLQFVLA

• Sequence length: 518

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Carcinogenesis	Associate	35379950	★☆☆☆☆ Found in Text Mining only
Epilepsy Familial Adult Myoclonic 3	Associate	33172502	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Associate	28726821, 35379950	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	35379950	★☆☆☆☆ Found in Text Mining only