SCYGR6

Summary

SCYGR6 (small cysteine and glycine repeat containing 6, HGNC:34225) is a protein-coding gene on chromosome 2q36.3, encoding Small cysteine and glycine repeat-containing protein 6 (A0A286YF77). 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 intermediate filament.

Source: NCBI Gene 112441431 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001395407

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34225
Approved symbol	SCYGR6
Name	small cysteine and glycine repeat containing 6
Location	2q36.3
Locus type	gene with protein product
Status	Approved
Aliases	KRTAP28-6
Ensembl gene	ENSG00000284725
Ensembl biotype	protein_coding
Entrez	112441431

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641918

RefSeq mRNA: 1 — MANE Select: NM_001395407 NM_001395407

CCDS: CCDS92958

Canonical transcript exons

ENST00000641918 — 1 exons

Exon	Start	End
ENSE00003812340	227724440	227724757

Expression profiles

Bgee: expression breadth broad, 22 present calls, max score 37.20.

Top tissues by expression

114 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
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
skin of abdomen	UBERON:0001416	33.22	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
zone of skin	UBERON:0000014	32.03	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
skin of leg	UBERON:0001511	31.40	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.36	silver quality
liver	UBERON:0002107	28.44	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.20	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
leukocyte	CL:0000738	25.91	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
monocyte	CL:0000576	25.74	silver quality
urinary bladder	UBERON:0001255	25.72	gold quality
muscle of leg	UBERON:0001383	25.16	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.49

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Small cysteine and glycine repeat-containing protein 6 — A0A286YF77 (reviewed: A0A286YF77)

Alternative names: Keratin-associated protein 28-6

All UniProt accessions (1): A0A286YF77

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.

Miscellaneous. Human have a similar number of genes as other primates despite the relative hairlessness of humans.

Similarity. Belongs to the KRTAP type 28 family.

RefSeq proteins (1): NP_001382336* (*=MANE)

Domains & families (InterPro)

UniProt features (2 total): chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A286YF77-F1	41.67	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 5 (showing top): GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, GOCC_SUPRAMOLECULAR_POLYMER, chr2q36

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): intermediate filament (GO:0005882)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A286YEV6, A0A286YEX9, A0A286YEY9, A0A286YF01, A0A286YF46, A0A286YF60, A0A286YF77, A0A286YFB4, A0A286YFG1, O14633, P02438, P04459, P05687, P05688, P08131, P08175, P0DSO2, P20730, Q01642, Q01643, Q01644, Q01645, Q07627, Q3LI58, Q3LI59, Q3V2C1, Q5T750, Q5T752, Q5T754, Q5TA78, Q5TA79, Q5TA81, Q5TA82, Q5TCM9, Q8IUC1, Q8IUG1, Q9BQ66, Q9BYP8, Q9BYQ5, Q9BYQ6

Diamond homologs: A0A286YEV6, A0A286YEX9, A0A286YEY9, A0A286YF01, A0A286YF60, A0A286YF77, A0A286YFB4, A0A286YFG1, P0DSO2

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

0 predictions. Top by Δscore:

AlphaMissense

682 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:227724575:G:C	C61W	0.966
2:227724559:A:G	C67R	0.961
2:227724640:A:G	C40R	0.961
2:227724577:A:G	C61R	0.960
2:227724557:A:C	C67W	0.955
2:227724638:G:C	C40W	0.951
2:227724637:A:C	Y41D	0.948
2:227724599:G:C	C53W	0.946
2:227724610:A:G	C50R	0.946
2:227724576:C:G	C61S	0.944
2:227724577:A:T	C61S	0.944
2:227724580:A:G	C60R	0.944
2:227724608:G:C	C50W	0.943
2:227724576:C:T	C61Y	0.940
2:227724604:A:G	C52R	0.939
2:227724601:A:G	C53R	0.938
2:227724646:A:G	C38R	0.938
2:227724592:A:G	C56R	0.937
2:227724642:C:A	R39M	0.935
2:227724558:C:G	C67S	0.934
2:227724559:A:T	C67S	0.934
2:227724620:G:C	C46W	0.932
2:227724633:C:G	R42P	0.932
2:227724567:G:T	P64H	0.927
2:227724602:G:C	C52W	0.927
2:227724587:A:C	C57W	0.926
2:227724613:A:G	C49R	0.925
2:227724600:C:T	C53Y	0.921
2:227724611:G:C	C49W	0.918
2:227724622:A:G	C46R	0.913

dbSNP variants (sampled 300 via entrez): RS1000513522 (2:227724225 T>C), RS1003867416 (2:227726347 G>A,T), RS1004887234 (2:227725095 C>G,T), RS1004928195 (2:227725368 C>T), RS1006055010 (2:227724596 G>A,T), RS1006310338 (2:227724136 T>C), RS1007851102 (2:227726612 C>T), RS1009138271 (2:227726290 C>A,T), RS1010714132 (2:227726410 C>T), RS1012113688 (2:227725810 G>A), RS1013119411 (2:227724633 C>A,T), RS1013763724 (2:227724444 C>A), RS1013906559 (2:227723954 A>G), RS1014849439 (2:227724743 C>A,G), RS1015235293 (2:227726613 G>A)

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)

Clinical trials (associated diseases)

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