SCYGR3

Summary

SCYGR3 (small cysteine and glycine repeat containing 3, HGNC:34222) is a protein-coding gene on chromosome 2q36.3, encoding Small cysteine and glycine repeat-containing protein 3 (A0A286YF60). 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 112441429 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001395404

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34222
Approved symbol	SCYGR3
Name	small cysteine and glycine repeat containing 3
Location	2q36.3
Locus type	gene with protein product
Status	Approved
Aliases	KRTAP28-3
Ensembl gene	ENSG00000284704
Ensembl biotype	protein_coding
Entrez	112441429

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000642029

RefSeq mRNA: 1 — MANE Select: NM_001395404 NM_001395404

CCDS: CCDS92954

Canonical transcript exons

ENST00000642029 — 1 exons

Exon	Start	End
ENSE00003813919	227614538	227614840

Expression profiles

Bgee: expression breadth broad, 27 present calls, max score 37.20.

Top tissues by expression

106 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
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
skin of abdomen	UBERON:0001416	29.67	gold quality
placenta	UBERON:0001987	29.09	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
zone of skin	UBERON:0000014	28.94	gold quality
skin of leg	UBERON:0001511	28.51	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	26.39	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 lobe of liver	UBERON:0001114	25.24	silver quality
muscle of leg	UBERON:0001383	24.85	silver quality
leukocyte	CL:0000738	24.80	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
monocyte	CL:0000576	24.52	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

Paralogs (1): SCYGR7 (ENSG00000284718)

Protein

Protein identifiers

Small cysteine and glycine repeat-containing protein 3 — A0A286YF60 (reviewed: A0A286YF60)

Alternative names: Keratin-associated protein 28-3

All UniProt accessions (1): A0A286YF60

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_001382333* (*=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-A0A286YF60-F1	41.83	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

10 predictions. Top by Δscore:

Variant	Effect	Δscore
2:227614820:T:TA	donor_gain	0.5500
2:227614539:T:TG	donor_gain	0.4600
2:227614538:C:CT	donor_gain	0.4200
2:227614588:T:TA	donor_gain	0.3600
2:227614711:A:AC	donor_gain	0.3400
2:227614540:A:G	donor_gain	0.3200
2:227614538:CTAA:C	donor_gain	0.3000
2:227614743:C:CT	donor_gain	0.2800
2:227614541:A:C	donor_gain	0.2400
2:227614539:T:G	donor_gain	0.2000

AlphaMissense

646 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:227614712:G:C	C43W	0.872
2:227614714:A:G	C43R	0.868
2:227614631:G:C	C70W	0.866
2:227614633:A:G	C70R	0.866
2:227614684:A:G	C53R	0.859
2:227614682:G:C	C53W	0.858
2:227614711:A:C	Y44D	0.849
2:227614707:C:G	R45P	0.848
2:227614673:G:C	C56W	0.838
2:227614654:A:G	C63R	0.835
2:227614649:G:C	C64W	0.832
2:227614632:C:G	C70S	0.825
2:227614633:A:T	C70S	0.825
2:227614716:C:A	R42M	0.817
2:227614666:A:G	C59R	0.815
2:227614651:A:G	C64R	0.810
2:227614687:A:G	C52R	0.808
2:227614678:A:G	C55R	0.807
2:227614685:G:C	C52W	0.807
2:227614676:G:C	C55W	0.806
2:227614694:G:C	C49W	0.805
2:227614683:C:T	C53Y	0.802
2:227614674:C:G	C56S	0.793
2:227614675:A:T	C56S	0.793
2:227614675:A:G	C56R	0.792
2:227614683:C:G	C53S	0.792
2:227614684:A:T	C53S	0.792
2:227614720:A:G	C41R	0.791
2:227614632:C:T	C70Y	0.790
2:227614653:C:G	C63S	0.788

dbSNP variants (sampled 300 via entrez): RS1000498896 (2:227615293 G>A), RS1000807760 (2:227614265 A>G), RS1001895065 (2:227614914 T>C), RS1002812502 (2:227616500 C>T), RS1004608882 (2:227614593 C>T), RS1005835398 (2:227616210 C>G,T), RS1006561951 (2:227616752 A>AT), RS1006906788 (2:227615573 G>A), RS1007127587 (2:227615243 T>C), RS1008125317 (2:227614237 A>G), RS1009702862 (2:227614156 G>A), RS1011886701 (2:227616477 G>A,T), RS1012523553 (2:227614754 A>C,G), RS1012598397 (2:227616261 A>G), RS1012856608 (2:227615949 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.