SCYGR10

Summary

SCYGR10 (small cysteine and glycine repeat containing 10 (gene/pseudogene), HGNC:34221) is a protein-coding gene on chromosome 2q36.3, encoding Small cysteine and glycine repeat-containing protein 10 (A0A286YEX9). 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….

This gene is a member of a large gene family that encodes keratin associated proteins (KRTAP) that play a role in hair formation. This gene belongs to a subfamily of the KRTAP family termed small cysteine and glycine repeat containing (SCYGR) genes and it resides in a cluster of SCYGR genes on chromosome 2q36.3. Allelic polymorphisms in this gene result in both coding and non-coding transcripts; the reference genome represents the non-coding allele.

Source: NCBI Gene 112441436 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 1 total

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34221
Approved symbol	SCYGR10
Name	small cysteine and glycine repeat containing 10 (gene/pseudogene)
Location	2q36.3
Locus type	gene with protein product
Status	Approved
Aliases	KRTAP28p2, KRTAP28-10
Ensembl gene	ENSG00000284622
Ensembl biotype	protein_coding
Entrez	112441436

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding_LoF

ENST00000641246

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000641246 — 1 exons

Exon	Start	End
ENSE00003813640	227608784	227609101

Expression profiles

Bgee: expression breadth broad, 77 present calls, max score 92.91.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	92.91	gold quality
hindlimb stylopod muscle	UBERON:0004252	39.29	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
right testis	UBERON:0004534	36.65	gold quality
left testis	UBERON:0004533	36.56	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
omental fat pad	UBERON:0010414	35.79	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
testis	UBERON:0000473	35.10	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
blood	UBERON:0000178	33.31	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
primary visual cortex	UBERON:0002436	30.39	gold quality
descending thoracic aorta	UBERON:0002345	30.34	gold quality
adipose tissue	UBERON:0001013	29.89	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
liver	UBERON:0002107	29.76	silver quality
placenta	UBERON:0001987	29.22	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
skin of abdomen	UBERON:0001416	28.26	gold quality
urinary bladder	UBERON:0001255	28.23	gold quality
duodenum	UBERON:0002114	28.14	gold quality
endometrium	UBERON:0001295	28.06	gold quality
lymph node	UBERON:0000029	27.57	gold quality
anterior cingulate cortex	UBERON:0009835	27.54	gold quality
zone of skin	UBERON:0000014	27.39	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.26

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Small cysteine and glycine repeat-containing protein 10 — A0A286YEX9 (reviewed: A0A286YEX9)

Alternative names: Keratin-associated protein 28 family pseudogene 2

All UniProt accessions (1): A0A286YEX9

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.

Polymorphism. SCYGR10 exists as both a pseudogene and a protein-coding gene in the human population. The potentially functional sequence displayed here with the variant p.Ter48Tyr has a frequency below 5% in the human population according to the Genome Aggregation Database (gnomAD v4.0.0.0).

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 (0): (*=MANE)

Domains & families (InterPro)

UniProt features (3 total): chain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A286YEX9-F1	40.15	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

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000834785 (2:227607872 T>C), RS1000952755 (2:227608912 C>T), RS1001439496 (2:227609121 G>A,C), RS1002224146 (2:227608421 G>A,T), RS1002445071 (2:227608183 T>C), RS1003178069 (2:227607558 G>T), RS1003641397 (2:227607282 G>A,T), RS1004070822 (2:227608082 G>C,T), RS1004464002 (2:227607122 T>C), RS1005485560 (2:227606796 T>C), RS1007966984 (2:227608929 A>C,G), RS1009814048 (2:227608781 G>A,T), RS1011998711 (2:227607156 G>T), RS1013716183 (2:227608069 C>G), RS1014048735 (2:227609416 T>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.