FTHL17 ferritin heavy chain like 17 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FTHL17provided by HGNC
Official Full Name: ferritin heavy chain like 17provided by HGNC
Primary source: HGNC:HGNC:3987
See related: Ensembl:ENSG00000132446 MIM:300308; AllianceGenome:HGNC:3987
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: CT38
Summary: This gene encodes a ferritin heavy chain-like protein. This gene is primarily expressed in embryonic germ cells. The encoded protein may lack ferroxidase activity. Multiple pseudogenes of this gene are found on chromosome X. [provided by RefSeq, Oct 2016]
Orthologs: mouse all
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Genomic context

Location:: Xp21.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (31071233..31072041, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (30669380..30670188, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (31089350..31090158, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Describe the first 46,XY PGD pedigree that may be attributed to mutations of the FTHL17 gene and speculate that the FTHL17 gene is involved in the testis-determining pathway and tumorigenesis.
Title: Novel mutation in FTHL17 gene in pedigree with 46,XY pure gonadal dysgenesis.
FTHL17 encodes a ferritin-like protein without ferroxidase activity. Its restricted embryonic expression and partial nuclear localization suggest that this novel ferritin type may have functions other than iron storage.
Title: The Ferritin-Heavy-Polypeptide-Like-17 (FTHL17) gene encodes a ferritin with low stability and no ferroxidase activity and with a partial nuclear localization.

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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

G65765 (e-PCR)
- UniSTS:225897

NoName (e-PCR)
- UniSTS:480947

NoName (e-PCR)
- UniSTS:484057

MARC_37603-37604:1067540108:1 (e-PCR)
- UniSTS:471527

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ferric iron binding	IBA Inferred from Biological aspect of Ancestor more info
enables ferrous iron binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in intracellular iron ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in iron ion transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ferritin heavy polypeptide-like 17

Names: cancer/testis antigen 38; epididymis secretory sperm binding protein; ferritin, heavy polypeptide-like 17

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.