SCYGR7

Summary

SCYGR7 (small cysteine and glycine repeat containing 7, HGNC:34226) is a protein-coding gene on chromosome 2q36.3, encoding Small cysteine and glycine repeat-containing protein 7 (A0A286YF01). 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 112441438 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 3 total
• MANE Select transcript: NM_001395408

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34226
Approved symbol	SCYGR7
Name	small cysteine and glycine repeat containing 7
Location	2q36.3
Locus type	gene with protein product
Status	Approved
Aliases	KRTAP28-7
Ensembl gene	ENSG00000284718
Ensembl biotype	protein_coding
Entrez	112441438

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641700

RefSeq mRNA: 1 — MANE Select: NM_001395408 NM_001395408

CCDS: CCDS92959

Canonical transcript exons

ENST00000641700 — 1 exons

Exon	Start	End
ENSE00003811944	227728335	227728625

Expression profiles

Bgee: expression breadth broad, 15 present calls, max score 37.20.

Top tissues by expression

110 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
skin of abdomen	UBERON:0001416	31.96	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
zone of skin	UBERON:0000014	31.10	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
skin of leg	UBERON:0001511	30.66	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
monocyte	CL:0000576	28.79	gold quality
leukocyte	CL:0000738	28.68	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	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
gall bladder	UBERON:0002110	25.98	gold quality
blood	UBERON:0000178	25.96	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
urinary bladder	UBERON:0001255	25.72	gold quality
muscle of leg	UBERON:0001383	24.86	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	1.14

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (1): SCYGR3 (ENSG00000284704)

Protein

Protein identifiers

Small cysteine and glycine repeat-containing protein 7 — A0A286YF01 (reviewed: A0A286YF01)

Alternative names: Keratin-associated protein 28-7

All UniProt accessions (1): A0A286YF01

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_001382337* (*=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-A0A286YF01-F1	40.69	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

52 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SCYGR7	FAM240C	A0A1B0GVR7	794
SCYGR7	ETDA	Q3ZM63	723
SCYGR7	ETDC	A0A1B0GVM5	721
SCYGR7	SCYGR1	A0A286YEY9	712
SCYGR7	SMIM36	A0A1B0GVT2	657
SCYGR7	SMIM41	A0A2R8YCJ5	651
SCYGR7	EDDM13	A0A1B0GTR0	643
SCYGR7	C1orf232	A0A0U1RR37	642
SCYGR7	TMDD1	P0DPE3	622
SCYGR7	SMIM38	A0A286YFK9	621
SCYGR7	CCDC201	A0A1B0GTI1	580
SCYGR7	SMIM28	A0A1B0GU29	571
SCYGR7	C10orf143	A0A1B0GUT2	570
SCYGR7	SMIM31	A0A1B0GVY4	473
SCYGR7	BTBD8	Q5XKL5	353

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

620 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:227728530:T:C	C66R	0.974
2:227728512:T:C	C60R	0.970
2:227728449:T:C	C39R	0.969
2:227728532:C:G	C66W	0.969
2:227728452:T:G	Y40D	0.968
2:227728514:C:G	C60W	0.968
2:227728479:T:C	C49R	0.966
2:227728530:T:A	C66S	0.963
2:227728531:G:C	C66S	0.963
2:227728451:C:G	C39W	0.962
2:227728512:T:A	C60S	0.962
2:227728513:G:C	C60S	0.962
2:227728481:C:G	C49W	0.959
2:227728490:C:G	C52W	0.958
2:227728513:G:A	C60Y	0.957
2:227728488:T:C	C52R	0.956
2:227728497:T:C	C55R	0.952
2:227728509:T:C	C59R	0.951
2:227728485:T:C	C51R	0.950
2:227728531:G:A	C66Y	0.947
2:227728476:T:C	C48R	0.946
2:227728488:T:A	C52S	0.942
2:227728489:G:A	C52Y	0.942
2:227728489:G:C	C52S	0.942
2:227728480:G:A	C49Y	0.938
2:227728502:T:G	C56W	0.936
2:227728469:C:G	C45W	0.934
2:227728487:C:G	C51W	0.934
2:227728501:G:A	C56Y	0.933
2:227728456:G:C	R41P	0.930

dbSNP variants (sampled 300 via entrez): RS1000614148 (2:227727846 C>A,T), RS1000623943 (2:227727574 C>A,T), RS1001403661 (2:227728523 T>C), RS1002273169 (2:227728844 T>C), RS1002939827 (2:227726976 T>C), RS1003274964 (2:227728071 A>G), RS1003867416 (2:227726347 G>A,T), RS1004402699 (2:227728825 A>G), RS1005404764 (2:227727983 T>C), RS1005750450 (2:227728392 G>A,C,T), RS1007196707 (2:227728578 G>A), RS1007851102 (2:227726612 C>T), RS1008286162 (2:227727853 C>T), RS1009307329 (2:227728459 T>C), RS1009397508 (2:227726944 C>T)

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.