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

Gene ID: 112441436, updated on 13-Jan-2024

Summary

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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]
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Genomic context

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Location:
2q36.3
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (227608784..227609101)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (228091438..228091755)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (228473500..228473817)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:228451619-228452120 Neighboring gene small cysteine and glycine repeat containing 9 (gene/pseudogene) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12401 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57064 Neighboring gene small cysteine and glycine repeat containing 2 Neighboring gene MPRA-validated peak4071 silencer Neighboring gene solute carrier family 19 member 4, pseudogene Neighboring gene small cysteine and glycine repeat containing 3 Neighboring gene spore coat protein SP96 Neighboring gene small cysteine and glycine repeat containing 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Molecular evolution of the keratin associated protein gene family in mammals, role in the evolution of mammalian hair. Wu DD, et al. BMC Evol Biol, 2008 Aug 23. PMID 18721477, Free PMC Article

GeneRIFs: Gene References Into Functions

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)

  1. 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

RNA

  1. 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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    227608784..227609101
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. 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

  1. 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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A0A286YEX9.1 GenPept UniProtKB/Swiss-Prot:A0A286YEX9

Gene LinkOut

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