SCYGR4

Summary

SCYGR4 (small cysteine and glycine repeat containing 4, HGNC:34223) is a protein-coding gene on chromosome 2q36.3, encoding Small cysteine and glycine repeat-containing protein 4 (A0A286YEV6). 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 112441430 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001395405

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34223
Approved symbol	SCYGR4
Name	small cysteine and glycine repeat containing 4
Location	2q36.3
Locus type	gene with protein product
Status	Approved
Aliases	KRTAP28-4
Ensembl gene	ENSG00000284631
Ensembl biotype	protein_coding
Entrez	112441430

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641801

RefSeq mRNA: 1 — MANE Select: NM_001395405 NM_001395405

CCDS: CCDS92955

Canonical transcript exons

ENST00000641801 — 1 exons

Exon	Start	End
ENSE00004001347	227617498	227617815

Expression profiles

Bgee: expression breadth broad, 58 present calls, max score 79.27.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
placenta	UBERON:0001987	79.27	gold quality
substantia nigra	UBERON:0002038	57.89	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	57.87	gold quality
putamen	UBERON:0001874	55.74	gold quality
Ammon’s horn	UBERON:0001954	55.08	gold quality
amygdala	UBERON:0001876	54.44	gold quality
temporal lobe	UBERON:0001871	54.37	gold quality
caudate nucleus	UBERON:0001873	52.89	gold quality
hypothalamus	UBERON:0001898	52.72	gold quality
right frontal lobe	UBERON:0002810	51.15	gold quality
Brodmann (1909) area 9	UBERON:0013540	50.89	gold quality
anterior cingulate cortex	UBERON:0009835	50.44	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	50.13	gold quality
cerebral cortex	UBERON:0000956	49.38	gold quality
nucleus accumbens	UBERON:0001882	48.56	gold quality
brain	UBERON:0000955	47.97	gold quality
right testis	UBERON:0004534	47.82	gold quality
vermiform appendix	UBERON:0001154	47.52	gold quality
left testis	UBERON:0004533	47.39	gold quality
superior frontal gyrus	UBERON:0002661	47.29	gold quality
primary visual cortex	UBERON:0002436	47.17	gold quality
frontal cortex	UBERON:0001870	46.99	gold quality
testis	UBERON:0000473	46.70	gold quality
right hemisphere of cerebellum	UBERON:0014890	46.46	gold quality
cerebellar hemisphere	UBERON:0002245	45.10	gold quality
cerebellum	UBERON:0002037	44.97	gold quality
cerebellar cortex	UBERON:0002129	44.97	gold quality
prefrontal cortex	UBERON:0000451	44.31	gold quality
sural nerve	UBERON:0015488	40.70	gold quality
monocyte	CL:0000576	40.68	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.97

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Small cysteine and glycine repeat-containing protein 4 — A0A286YEV6 (reviewed: A0A286YEV6)

Alternative names: Keratin-associated protein 28-4

All UniProt accessions (1): A0A286YEV6

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_001382334* (*=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-A0A286YEV6-F1	40.72	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

1 predictions. Top by Δscore:

Variant	Effect	Δscore
2:227617758:C:A	acceptor_gain	0.2000

AlphaMissense

678 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:227617720:T:C	C75R	0.974
2:227617704:C:G	C69W	0.972
2:227617722:C:G	C75W	0.972
2:227617639:T:C	C48R	0.971
2:227617702:T:C	C69R	0.970
2:227617641:C:G	C48W	0.962
2:227617680:C:G	C61W	0.961
2:227617669:T:C	C58R	0.960
2:227617671:C:G	C58W	0.960
2:227617678:T:C	C61R	0.960
2:227617720:T:A	C75S	0.959
2:227617721:G:C	C75S	0.959
2:227617703:G:A	C69Y	0.955
2:227617642:T:G	Y49D	0.954
2:227617699:T:C	C68R	0.953
2:227617721:G:A	C75Y	0.950
2:227617687:T:C	C64R	0.948
2:227617675:T:C	C60R	0.947
2:227617679:G:A	C61Y	0.946
2:227617646:G:C	R50P	0.945
2:227617702:T:A	C69S	0.944
2:227617703:G:C	C69S	0.944
2:227617678:T:A	C61S	0.942
2:227617679:G:C	C61S	0.942
2:227617659:C:G	C54W	0.938
2:227617637:G:T	R47M	0.936
2:227617690:T:C	C65R	0.936
2:227617692:T:G	C65W	0.934
2:227617666:T:C	C57R	0.933
2:227617677:C:G	C60W	0.933

dbSNP variants (sampled 300 via entrez): RS1000252580 (2:227618235 T>G), RS1002812502 (2:227616500 C>T), RS1004720402 (2:227617134 C>T), RS1005240311 (2:227617427 A>G), RS1005835398 (2:227616210 C>G,T), RS1006494633 (2:227617348 A>C), RS1006561951 (2:227616752 A>AT), RS1006906788 (2:227615573 G>A), RS1009484067 (2:227618041 T>C), RS1010458983 (2:227617681 C>T), RS1010654888 (2:227617766 A>G,T), RS1011250424 (2:227616868 C>A,T), RS1011886701 (2:227616477 G>A,T), 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.