CYB5D2 (cytochrome b5 domain containing 2)

Gene

• Entrez ID: 124936
• Gene name: Cytochrome b5 domain containing 2
• Gene symbol: CYB5D2
• Synonyms (NCBI Gene): -
• Chromosome: 17
• Chromosome location: 17p13.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT047145	hsa-miR-183-5p	CLASH	23622248
MIRT919521	hsa-miR-1915	CLIP-seq
MIRT919522	hsa-miR-324-5p	CLIP-seq
MIRT919523	hsa-miR-3612	CLIP-seq
MIRT919524	hsa-miR-4459	CLIP-seq
MIRT919525	hsa-miR-4685-5p	CLIP-seq
MIRT919526	hsa-miR-4695-5p	CLIP-seq
MIRT919527	hsa-miR-4726-3p	CLIP-seq
MIRT919528	hsa-miR-650	CLIP-seq
MIRT919529	hsa-miR-665	CLIP-seq
MIRT1972582	hsa-miR-1290	CLIP-seq
MIRT1972583	hsa-miR-298	CLIP-seq
MIRT1972584	hsa-miR-300	CLIP-seq
MIRT1972585	hsa-miR-3167	CLIP-seq
MIRT1972586	hsa-miR-3180-5p	CLIP-seq
MIRT1972587	hsa-miR-3678-3p	CLIP-seq
MIRT1972588	hsa-miR-3713	CLIP-seq
MIRT1972589	hsa-miR-381	CLIP-seq
MIRT1972590	hsa-miR-4253	CLIP-seq
MIRT1972591	hsa-miR-4718	CLIP-seq
MIRT1972592	hsa-miR-4782-5p	CLIP-seq
MIRT1972593	hsa-miR-520a-5p	CLIP-seq
MIRT1972594	hsa-miR-525-5p	CLIP-seq
MIRT1972595	hsa-miR-548p	CLIP-seq
MIRT1972596	hsa-miR-876-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005496	Function	Steroid binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0012505	Component	Endomembrane system	IBA
GO:0016020	Component	Membrane	IBA
GO:0020037	Function	Heme binding	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q8WUJ1
• Protein name: Neuferricin (Cytochrome b5 domain-containing protein 2)
• Protein function: Heme-binding protein which promotes neuronal but not astrocyte differentiation.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00173	Cyt-b5	39 → 134	Cytochrome b5-like Heme/Steroid binding domain	Domain

• Sequence:

  MLRCGGRGLLLGLAVAAAAVMAARLMGWWGPRAGFRLFIPEELSRYRGGPGDPGLYLALL
  GRVYDVSSGRRHYEPGSHYSGFAGRDASRAFVTGDCSEAGLVDDVSDLSAAEMLTLHNWL
  SFYEKNYVCVGRVTGRFYGEDGLPTPALTQVEAAITRGLEANKLQLQEKQTFPPCNAEWS
  SARGSRLWCSQKSGGVSRDWIGVPRKLYKPGAKEPRCVCVRTTGPPSGQMPDNPPHRNRG
  DLDHPNLAEYTGCPPLAITCSFPL

• Sequence length: 264

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
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	31036830		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32883354	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36881382	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36530957	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	40395557	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	26692170		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	26692170		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	26692170		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31036830		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	26692170		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	26692170		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26692170, 31036830		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	26692170		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	40395557	Associate	★☆☆☆☆ Found in Text Mining only