KRTAP9-6

Summary

KRTAP9-6 (keratin associated protein 9-6, HGNC:18914) is a protein-coding gene on chromosome 17q21.2, encoding Keratin-associated protein 9-6 (A8MVA2). 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 extensive disulfide bond cross-link….

Predicted to be located in cytosol.

Source: NCBI Gene 100507608 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001277331

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18914
Approved symbol	KRTAP9-6
Name	keratin associated protein 9-6
Location	17q21.2
Locus type	gene with protein product
Status	Approved
Aliases	KAP9.6
Ensembl gene	ENSG00000212659
Ensembl biotype	protein_coding
Entrez	100507608

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000391355

RefSeq mRNA: 1 — MANE Select: NM_001277331 NM_001277331

CCDS: CCDS59286

Canonical transcript exons

ENST00000391355 — 1 exons

Exon	Start	End
ENSE00001509137	41265378	41265860

Expression profiles

Bgee: expression breadth tissue_specific, 6 present calls, max score 37.20.

Top tissues by expression

129 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
skeletal muscle tissue	UBERON:0001134	35.02	gold quality
right lung	UBERON:0002167	33.86	gold quality
muscle tissue	UBERON:0002385	32.27	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
lymph node	UBERON:0000029	31.45	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
liver	UBERON:0002107	30.57	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
skin of abdomen	UBERON:0001416	29.65	gold quality
prefrontal cortex	UBERON:0000451	29.20	gold quality
duodenum	UBERON:0002114	28.14	gold quality
urinary bladder	UBERON:0001255	27.93	gold quality
blood	UBERON:0000178	27.74	gold quality
zone of skin	UBERON:0000014	27.71	gold quality
muscle of leg	UBERON:0001383	27.65	gold quality
gastrocnemius	UBERON:0001388	27.05	gold quality
tonsil	UBERON:0002372	27.05	gold quality
pancreas	UBERON:0001264	26.98	gold quality
islet of Langerhans	UBERON:0000006	26.91	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
skin of leg	UBERON:0001511	26.26	gold quality
right lobe of liver	UBERON:0001114	26.24	gold quality
leukocyte	CL:0000738	26.22	gold quality
monocyte	CL:0000576	26.09	gold quality
body of pancreas	UBERON:0001150	26.03	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.20

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (47): KRTAP4-4 (ENSG00000171396), KRTAP9-7 (ENSG00000180386), KRTAP5-5 (ENSG00000185940), KRTAP12-1 (ENSG00000187175), KRTAP9-8 (ENSG00000187272), KRTAP10-8 (ENSG00000187766), KRTAP10-6 (ENSG00000188155), KRTAP1-1 (ENSG00000188581), KRTAP10-12 (ENSG00000189169), KRTAP4-3 (ENSG00000196156), KRTAP9-9 (ENSG00000198083), KRTAP4-6 (ENSG00000198090), KRTAP4-5 (ENSG00000198271), KRTAP4-1 (ENSG00000198443), KRTAP9-3 (ENSG00000204873), KRTAP4-8 (ENSG00000204880), KRTAP1-4 (ENSG00000204887), KRTAP12-3 (ENSG00000205439), KRTAP10-2 (ENSG00000205445), KRTAP5-6 (ENSG00000205864), KRTAP5-2 (ENSG00000205867), KRTAP16-1 (ENSG00000212657), KRTAP4-11 (ENSG00000212721), KRTAP4-9 (ENSG00000212722), KRTAP2-3 (ENSG00000212724), KRTAP2-1 (ENSG00000212725), KRTAP10-3 (ENSG00000212935), KRTAP4-12 (ENSG00000213416), KRTAP2-4 (ENSG00000213417), KRTAP2-2 (ENSG00000214518), KRTAP10-4 (ENSG00000215454), KRTAP10-1 (ENSG00000215455), KRTAP10-9 (ENSG00000221837), KRTAP1-5 (ENSG00000221852), KRTAP10-10 (ENSG00000221859), KRTAP12-2 (ENSG00000221864), KRTAP1-3 (ENSG00000221880), KRTAP9-2 (ENSG00000239886), KRTAP9-1 (ENSG00000240542), KRTAP4-7 (ENSG00000240871)

Protein

Protein identifiers

Keratin-associated protein 9-6 — A8MVA2 (reviewed: A8MVA2)

Alternative names: Keratin-associated protein 9-like 2

All UniProt accessions (1): A8MVA2

UniProt curated annotations — full annotation on UniProt →

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 extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.

Subunit / interactions. Interacts with hair keratins.

Similarity. Belongs to the KRTAP type 9 family.

RefSeq proteins (1): NP_001264260* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002494	KAP	Family

Pfam: PF13885

UniProt features (19 total): repeat 16, chain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8MVA2-F1	39.34	0.00

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-6805567	Keratinization
R-HSA-1266738	Developmental Biology

MSigDB gene sets: 11 (showing top): GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_KERATIN_FILAMENT, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, ERCC8_TARGET_GENES, FOXN3_TARGET_GENES, ZNF528_TARGET_GENES, SMN1_SMN2_TARGET_GENES, chr17q21

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (3): cytosol (GO:0005829), keratin filament (GO:0045095), intermediate filament (GO:0005882)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	1
cellular anatomical structure	1
intermediate filament	1
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1

Protein interactions and networks

STRING

24 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP9-6	ACTR5	Q9H9F9	102
KRTAP9-6	K7ENP7	K7ENP7	99
KRTAP9-6	INO80C	Q6PI98	99
KRTAP9-6	RUVBL1	P82276	90
KRTAP9-6	RUVBL2	Q9Y230	90
KRTAP9-6	ACTR8	Q9H981	66
KRTAP9-6	KRTAP9-8	Q9BYQ0	0
KRTAP9-6	KRTAP9-4	Q9BYQ2	0
KRTAP9-6	KRTAP9-2	Q9BYQ4	0
KRTAP9-6	KRTAP9-7	A8MTY7	0
KRTAP9-6	KRTAP9-1	A8MXZ3	0
KRTAP9-6	KRTAP9-3	Q9BYQ3	0

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A5A6P5, A6QP35, A8MTY7, A8MVA2, A8MXZ3, O75690, P02438, P02441, P02442, P02443, P08131, P0C7H8, P26371, P59990, P59991, P60014, P60331, P60368, P60369, P60370, P60371, P60372, P60409, P60410, P60411, P60412, P60413, Q05B44, Q07627, Q3V2C1, Q6L8G4, Q6L8G8, Q6L8G9, Q6L8H2, Q701N4, Q8IUG1, Q9BQ66, Q9BYP9, Q9BYQ0, Q9BYQ2

Diamond homologs: A8MVA2, Q9BYQ4, A5A6P5, Q9BYP9, Q9BYQ0, Q9BYQ2, Q9BYQ3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

0 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

66 predictions. Top by Δscore:

Variant	Effect	Δscore
17:41265566:G:GT	donor_gain	0.6100
17:41265437:G:GT	donor_gain	0.5700
17:41265676:GCT:G	donor_gain	0.5300
17:41265649:G:GG	donor_gain	0.5200
17:41265677:C:G	donor_gain	0.5200
17:41265508:T:A	donor_gain	0.4900
17:41265782:C:G	donor_gain	0.4700
17:41265857:C:G	donor_gain	0.4700
17:41265646:GCT:G	donor_gain	0.4500
17:41265648:T:TG	donor_gain	0.4400
17:41265767:T:TA	donor_gain	0.4400
17:41265422:G:GT	donor_gain	0.4200
17:41265652:G:A	donor_gain	0.4200
17:41265599:C:G	donor_gain	0.4100
17:41265829:T:A	donor_gain	0.4100
17:41265727:G:GT	donor_gain	0.4000
17:41265857:C:CG	donor_gain	0.3800
17:41265794:C:G	donor_gain	0.3700
17:41265824:C:G	donor_gain	0.3700
17:41265555:ACCT:A	acceptor_gain	0.3600
17:41265853:GTTGC:G	donor_gain	0.3600
17:41265854:TTGCT:T	donor_gain	0.3600
17:41265515:C:G	donor_gain	0.3500
17:41265555:A:AG	acceptor_gain	0.3500
17:41265722:C:CG	donor_gain	0.3500
17:41265556:C:G	acceptor_gain	0.3400
17:41265836:C:G	donor_gain	0.3300
17:41265809:C:G	donor_gain	0.3200
17:41265632:C:G	donor_gain	0.3100
17:41265856:GC:G	donor_gain	0.3100

AlphaMissense

1059 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:41265731:A:C	R118S	0.617
17:41265731:A:T	R118S	0.617
17:41265738:T:G	Y121D	0.610

dbSNP variants (sampled 300 via entrez): RS1000046484 (17:41263746 A>T), RS1000160520 (17:41264107 G>A,C), RS1000519494 (17:41265319 G>A,T), RS1001205807 (17:41264605 CAAGCAGT>C), RS1002302243 (17:41266280 AT>A,ATT), RS1005316406 (17:41263613 G>A), RS1007168334 (17:41264587 A>C,G), RS1012135487 (17:41264202 C>G,T), RS1013234436 (17:41265065 T>C), RS1013316628 (17:41263649 C>A), RS1013704250 (17:41264847 G>C), RS1016698116 (17:41264256 A>C,G), RS1016856685 (17:41264742 C>A), RS1017156856 (17:41263654 AG>A), RS1018369979 (17:41265416 C>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cadmium	decreases expression, increases abundance	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.