KRTAP9-2 (keratin associated protein 9-2)

Gene

• Entrez ID: 83899
• Gene name: Keratin associated protein 9-2
• Gene symbol: KRTAP9-2
• Synonyms (NCBI Gene): KAP9.2, KRTAP9.2
• Chromosome: 17
• Chromosome location: 17q21.2
• Summary: This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- an

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1102153	hsa-miR-3167	CLIP-seq
MIRT1102154	hsa-miR-494	CLIP-seq
MIRT1102155	hsa-miR-876-5p	CLIP-seq
MIRT2027815	hsa-miR-1185	CLIP-seq
MIRT2027816	hsa-miR-1193	CLIP-seq
MIRT2027817	hsa-miR-1294	CLIP-seq
MIRT2027818	hsa-miR-147	CLIP-seq
MIRT2027819	hsa-miR-2117	CLIP-seq
MIRT2027820	hsa-miR-2392	CLIP-seq
MIRT2027821	hsa-miR-323-5p	CLIP-seq
MIRT2027822	hsa-miR-3605-5p	CLIP-seq
MIRT2027823	hsa-miR-3679-5p	CLIP-seq
MIRT2027824	hsa-miR-4316	CLIP-seq
MIRT2027825	hsa-miR-4753-3p	CLIP-seq
MIRT2027826	hsa-miR-876-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 29892012, 32296183, 32814053
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005882	Component	Intermediate filament	IEA
GO:0042802	Function	Identical protein binding	IPI	25416956, 32296183
GO:0045095	Component	Keratin filament	IEA

Other IDs

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

Protein

• UniProt ID: Q9BYQ4
• Protein name: Keratin-associated protein 9-2 (Keratin-associated protein 9.2) (Ultrahigh sulfur keratin-associated protein 9.2)
• Protein function: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their e
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13885	Keratin_B2_2	1 → 50	Keratin, high sulfur B2 protein	Family
  PF13885	Keratin_B2_2	80 → 124	Keratin, high sulfur B2 protein	Family
  PF13885	Keratin_B2_2	122 → 164	Keratin, high sulfur B2 protein	Family
  PF13885	Keratin_B2_2	144 → 174	Keratin, high sulfur B2 protein	Family

• Sequence:

  MTHCCSPCCQPTCCRTTCCRTTCWKPTTVTTCSSTPCCQPACCVSSCCQPCCRPTCCQNT
  CCRTTCCQPTCVTSCCQPSCCSTPCCQPTCCGSSCCGQTSCGSSCGQSSSCAPVYCRRTC
  YYPTTVCLPGCLNQSCGSNCCQPCCRPACCETTCCRTTCFQPTCVSSCCQPSCC

• Sequence length: 174

Pathways

Reactome:

Keratinization

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
High myopia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations