CST8 cystatin 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CST8provided by HGNC
Official Full Name: cystatin 8provided by HGNC
Primary source: HGNC:HGNC:2480
See related: Ensembl:ENSG00000125815 MIM:608683; AllianceGenome:HGNC:2480
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CRES; CTES5
Summary: The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein similar to type 2 cystatins. The encoded protein exhibits highly tissue-specific expression in the reproductive tract, suggesting implicit roles in reproduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Expression: Restricted expression toward testis (RPKM 2.7) See more
Orthologs: mouse all
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Genomic context

Location:: 20p11.21

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (23491117..23507124)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (23550642..23566685)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (23471754..23476647)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

We show with phylogenetic relations that the CTES genes are clustered into three original groups, a testatin, a Cres, and a CstL1 group
Title: Evolution and human tissue expression of the Cres/Testatin subgroup genes, a reproductive tissue specific subgroup of the type 2 cystatins.
Observational study of gene-disease association. (HuGE Navigator)
Title: Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.
studies show that cystatin-related epididymal spermatogenic protein is present in the sperm equatorial segment and becomes accessible to the extracellular environment during fertilization
Title: Identification and characterization of cystatin-related epididymal spermatogenic protein in human spermatozoa: localization in the equatorial segment.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:481749

NoName (e-PCR)
- UniSTS:483037

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteine-type endopeptidase inhibitor activity	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extracellular region	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: cystatin-8

Names: cystatin 8 (cystatin-related epididymal specific); cystatin-related epididymal spermatogenic protein; epididymis secretory sperm binding protein

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_001281730.2 → NP_001268659.1 cystatin-8 precursor

See identical proteins and their annotated locations for NP_001268659.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AA436982, AL109954, AW665128, BX096109

Consensus CDS

CCDS13156.1

UniProtKB/Swiss-Prot

O60676, Q2M2X6

UniProtKB/TrEMBL

A0A384MDQ4, A2A2N0

Related

ENSP00000399144.1, ENST00000449810.5

Conserved Domains (1) summary

smart00043
Location:35 → 140

CY; Cystatin-like domain
NM_005492.4 → NP_005483.1 cystatin-8 precursor

See identical proteins and their annotated locations for NP_005483.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AA436982, AF059244, AL109954, AW665128

Consensus CDS

CCDS13156.1

UniProtKB/Swiss-Prot

O60676, Q2M2X6

UniProtKB/TrEMBL

A0A384MDQ4, A2A2N0

Related

ENSP00000246012.1, ENST00000246012.2

Conserved Domains (1) summary

smart00043
Location:35 → 140

CY; Cystatin-like domain