SCYGR8

Summary

SCYGR8 (small cysteine and glycine repeat containing 8, HGNC:34227) is a protein-coding gene on chromosome 2q36.3, encoding Small cysteine and glycine repeat-containing protein 8 (A0A286YFG1). 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 112441432 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_001395409

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34227
Approved symbol	SCYGR8
Name	small cysteine and glycine repeat containing 8
Location	2q36.3
Locus type	gene with protein product
Status	Approved
Aliases	KRTAP28-8
Ensembl gene	ENSG00000284635
Ensembl biotype	protein_coding
Entrez	112441432

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641981

RefSeq mRNA: 1 — MANE Select: NM_001395409 NM_001395409

CCDS: CCDS92960

Canonical transcript exons

ENST00000641981 — 1 exons

Exon	Start	End
ENSE00004472045	227745894	227746220

Expression profiles

Bgee: expression breadth tissue_specific, 7 present calls, max score 37.20.

Top tissues by expression

130 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
skin of abdomen	UBERON:0001416	35.05	gold quality
zone of skin	UBERON:0000014	34.94	gold quality
skin of leg	UBERON:0001511	34.83	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	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	29.23	gold quality
liver	UBERON:0002107	28.59	gold quality
duodenum	UBERON:0002114	28.14	gold quality
placenta	UBERON:0001987	27.86	silver quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
leukocyte	CL:0000738	26.74	gold quality
monocyte	CL:0000576	26.65	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.36	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
urinary bladder	UBERON:0001255	25.72	gold quality
right adrenal gland cortex	UBERON:0035827	25.40	gold quality
muscle of leg	UBERON:0001383	25.39	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.32

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Small cysteine and glycine repeat-containing protein 8 — A0A286YFG1 (reviewed: A0A286YFG1)

Alternative names: Keratin-associated protein 28-8

All UniProt accessions (1): A0A286YFG1

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_001382338* (*=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-A0A286YFG1-F1	40.29	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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

700 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:227746026:T:C	C45R	0.949
2:227746107:T:C	C72R	0.943
2:227746056:T:C	C55R	0.936
2:227746109:C:G	C72W	0.934
2:227746089:T:C	C66R	0.931
2:227746058:C:G	C55W	0.929
2:227746028:C:G	C45W	0.928
2:227746091:C:G	C66W	0.928
2:227746065:T:C	C58R	0.927
2:227746029:T:G	Y46D	0.922
2:227746067:C:G	C58W	0.922
2:227746107:T:A	C72S	0.917
2:227746108:G:C	C72S	0.917
2:227746086:T:C	C65R	0.916
2:227746074:T:C	C61R	0.915
2:227746024:G:T	R44M	0.914
2:227746053:T:C	C54R	0.913
2:227746033:G:C	R47P	0.912
2:227746062:T:C	C57R	0.912
2:227746077:T:C	C62R	0.901
2:227746065:T:A	C58S	0.899
2:227746066:G:C	C58S	0.899
2:227746044:T:C	C51R	0.897
2:227746099:C:A	P69H	0.897
2:227746079:T:G	C62W	0.896
2:227746046:C:G	C51W	0.895
2:227746055:C:G	C54W	0.892
2:227746020:T:C	C43R	0.890
2:227746090:G:A	C66Y	0.885
2:227746057:G:A	C55Y	0.884

dbSNP variants (sampled 300 via entrez): RS1000125379 (2:227744875 C>G), RS1000213734 (2:227744365 C>G,T), RS1000585614 (2:227744544 G>A), RS1001529310 (2:227744251 C>T), RS1001918602 (2:227745403 A>G), RS1002263010 (2:227745259 CCG>C), RS1004329894 (2:227744983 T>A), RS1005395434 (2:227746342 C>A,T), RS1006814886 (2:227745232 T>A,C), RS1007582435 (2:227744786 T>C), RS1012249312 (2:227746676 C>G,T), RS1013252798 (2:227745454 A>G), RS1014207311 (2:227744187 G>A), RS1015657598 (2:227746374 A>G), RS1016326499 (2:227744247 A>G)

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.