GCNA (germ cell nuclear acidic peptidase)

Download as csv Download as pdf
Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Download as csvDownload as pdf
Entrez ID 93953
Gene name Germ cell nuclear acidic peptidase
Gene symbol GCNA
Synonyms (NCBI Gene)
ACRCNAAR1SPGFX4
Chromosome X
Chromosome location Xq13.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11 Show/Hide all (11)
Download as csvDownload as pdf
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Download as csvDownload as pdf
MIM HGNC e!Ensembl
300369 15805 ENSG00000147174
Protein Protein information from UniProt database.
Download as csvDownload as pdf
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Download as csvDownload as pdf
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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION — Disgenet, Orphanet
Disgenet, Orphanet 		34413498
★★★★★
★★☆☆☆
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 associations identified through text mining
Show/Hide Text Mining Associations (10)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
alpha 1-Antitrypsin Deficiency Alpha 1-Antitrypsin Deficiency BEFREE 17943569
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthenozoospermia Asthenozoospermia Pubtator 34413498 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 17943569
★★★★★
★☆☆☆☆
Found in Text Mining only
Azoospermia Azoospermia Pubtator 34413498, 35172124 Associate
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dystonia Disorders Dystonia BEFREE 11714101
★★★★★
★☆☆☆☆
Found in Text Mining only
Germ cell tumor Tumor BEFREE 31839537
★★★★★
★☆☆☆☆
Found in Text Mining only
Infertility Infertility Pubtator 34413498 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Infertility Male Male infertility Pubtator 34413498 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Myeloid leukemia Pubtator 28498449 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Parkinsonian Disorders Parkinson Disease BEFREE 11714101
★★★★★
★☆☆☆☆
Found in Text Mining only
Sort by:
TEX11 3 shared diseasesMale infertility single gene azoospermia, Spermatogenic failure, x-linked, Testicular azoospermia 6 shared evidence sourcesDisgenet (Male infertility single gene azoospermia), Orphanet (Male infertility single gene azoospermia), ClinVar (Spermatogenic failure, x-linked), Disgenet (Spermatogenic failure, x-linked), HPO (Spermatogenic failure, x-linked), Disgenet (Testicular azoospermia) Related via 3 shared diseases including Male infertility single gene azoospermia, Spermatogenic failure, x-linked — evidence mostly Disgenet. CT55 2 shared diseasesMale infertility single gene azoospermia, Spermatogenic failure, x-linked 5 shared evidence sourcesDisgenet (Male infertility single gene azoospermia), Orphanet (Male infertility single gene azoospermia), ClinVar (Spermatogenic failure, x-linked), Disgenet (Spermatogenic failure, x-linked), HPO (Spermatogenic failure, x-linked) Related via 2 shared diseases including Male infertility single gene azoospermia, Spermatogenic failure, x-linked — evidence mostly Disgenet. TERB1 3 shared diseasesAzoospermia, Male infertility single gene azoospermia, Testicular azoospermia 4 shared evidence sourcesDisgenet (Azoospermia), Disgenet (Male infertility single gene azoospermia), Orphanet (Male infertility single gene azoospermia), Disgenet (Testicular azoospermia) Related via 3 shared diseases including Azoospermia, Male infertility single gene azoospermia — evidence mostly Disgenet. MCMDC2 2 shared diseasesAzoospermia, Male infertility single gene azoospermia 2 shared evidence sourcesDisgenet (Azoospermia), Disgenet (Male infertility single gene azoospermia) Related via 2 shared diseases including Azoospermia, Male infertility single gene azoospermia — evidence mostly Disgenet. TERB2 2 shared diseasesMale infertility single gene azoospermia, Testicular azoospermia 3 shared evidence sourcesDisgenet (Male infertility single gene azoospermia), Orphanet (Male infertility single gene azoospermia), Disgenet (Testicular azoospermia) Related via 2 shared diseases including Male infertility single gene azoospermia, Testicular azoospermia — evidence mostly Disgenet.
Spermatogenic failure Linked via 2 of 5 related genesTERB1, TERB2 Endometriosis Linked via 1 of 5 related genesTEX11 Male infertility Linked via 1 of 5 related genesTEX11 Prostate cancer Linked via 1 of 5 related genesTEX11 Uterine fibroid Linked via 1 of 5 related genesTEX11