GCNA (germ cell nuclear acidic peptidase)

Gene

• Entrez ID: 93953
• Gene name: Germ cell nuclear acidic peptidase
• Gene symbol: GCNA
• Synonyms (NCBI Gene): ACRC, NAAR1, SPGFX4
• Chromosome: X
• Chromosome location: Xq13.1

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	30914427
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	27718356
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0016605	Component	PML body	IDA	30914427
GO:0016605	Component	PML body	IEA
GO:0032184	Function	SUMO polymer binding	IDA	30914427
GO:0106300	Process	Protein-DNA covalent cross-linking repair	IMP	30914427

Other IDs

• MIM: 300369
• HGNC: 15805
• e!Ensembl: ENSG00000147174

Protein

• UniProt ID: Q96QF7
• Protein name: Germ cell nuclear acidic protein (Acidic repeat-containing protein) (Germ cell nuclear acidic peptidase) (Germ cell nuclear antigen)
• Protein function: May play a role in DNA-protein cross-links (DPCs) clearance through a SUMO-dependent recruitment to sites of DPCs, ensuring the genomic stability by protecting germ cells and early embryos from various sources of damage (PubMed:30914427). Can re
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10263	SprT-like	522 → 641	SprT-like family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in germ cells of the testis (at protein level) (PubMed:27718356). Detected in skeletal muscle, liver, kidney, pancreas, heart, lung and brain (PubMed:11714101). Expressed throughout spermatogenesis, from spermatogonia to elon
• Sequence:

  MDGCKKELPRLQEPEEDEDCYILNVQSSSDDTSGSSVARRAPKRQASCILNVQSRSGDTS
  GSSVARRAPKRQASSVVVIDSDSDEECHTHEEKKAKLLEINSDDESPECCHVKPAIQEPP
  IVISDDDNDDDNGNDLEVPDDNSDDSEAPDDNSDDSEAPDDNSDDSEAPDDNSDDSEAPD
  DNSDDSDVPDDNSDDSSDDNSDDSSDDNSDDSDVPDDKSDDSDVPDDSSDDSDVPDDSSD
  DSEAPDDSSDDSEAPDDSSDDSEAPDDSSDDSEAPDDSSDDSEASDDSSDDSEASDDSSD
  DSEAPDDKSDDSDVPEDKSDDSDVPDDNSDDLEVPVPAEDLCNEGQIASDEEELVEAAAA
  VSQHDSSDDAGEQDLGENLSKPPSDPEANPEVSERKLPTEEEPAPVVEQSGKRKSKTKTI
  VEPPRKRQTKTKNIVEPPRKRQTKTKNIVEPLRKRKAKTKNVSVTPGHKKRGPSKKKPGA
  AKVEKRKTRTPKCKVPGCFLQDLEKSKKYSGKNLKRNKDELVQRIYDLFNRSVCDKKLPE
  KLRIGWNNKMVKTAGLCSTGEMWYPKWRRFAKIQIGLKVCDSADRIRDTLIHEMCHAASW
  LIDGIHDSHGDAWKYYARKSNRIHPELPRVTRCHNYKINYKVHYECTGCKTRIGCYTKSL
  DTSRFICAKCKGSLVMVPLTQKDGTRIVPHV

• Sequence length: 691

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Azoospermia	Pathogenic	rs2147732931	RCV001797571	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-obstructive azoospermia	Pathogenic; Likely pathogenic	rs2147729149, rs2147727146	RCV001538077 RCV001648517	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spermatogenic failure, X-linked, 4	Pathogenic; Likely pathogenic	rs2147729149, rs2147727146, rs2147732931, rs2147728009	RCV002221630 RCV003388033 RCV002221685 RCV002221960	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR AZOOSPERMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Asthenozoospermia	Associate	34413498	★☆☆☆☆ Found in Text Mining only
Azoospermia	Associate	34413498, 35172124	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infertility	Associate	34413498	★☆☆☆☆ Found in Text Mining only
Infertility Male	Associate	34413498	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Associate	28498449	★☆☆☆☆ Found in Text Mining only