SCYGR10 small cysteine and glycine repeat containing 10 (gene/pseudogene) [Homo sapiens (human)] - Gene

Summary

Official Symbol: SCYGR10provided by HGNC
Official Full Name: small cysteine and glycine repeat containing 10 (gene/pseudogene)provided by HGNC
Primary source: HGNC:HGNC:34221
See related: Ensembl:ENSG00000284622 AllianceGenome:HGNC:34221
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KRTAP28p2; KRTAP28-10
Summary: 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. [provided by RefSeq, Jan 2024]
Annotation information: Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
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Genomic context

Location:: 2q36.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (227608784..227609101)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (228091438..228091755)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (228473500..228473817)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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Gene Ontology Provided by GOA

Component	Evidence Code	Pubs
located_in intermediate filament	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: small cysteine and glycine repeat-containing protein 10

Names: keratin associated protein 28 family pseudogene 2; keratin associated protein 28-910

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001396083.1 → NP_001383012.1 small cysteine and glycine repeat-containing protein 10

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents a common allele that is predicted to encode a protein of 106 aa.

Source sequence(s)

CM004594

UniProtKB/Swiss-Prot

A0A286YEX9

RNA

NR_173327.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (1, non-coding) represents a common allele that introduces a premature stop codon and a non-coding transcript.

Source sequence(s)

AC064853

Related

ENST00000641246.2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

227608784..227609101

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

228091438..228091755

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NG_075678.1: Suppressed sequence

Description

NG_075678.1: This RefSeq was removed because it is now thought that this gene does encode a protein in some human populations and is a pseudogene in other human populations.