Chromosome 12 Open Reading Frame 4

Alternative Names

C12orf4

Length

50,735 bases

No. of Exons

No. of isoforms

Protein Name

Protein C12orf4

Molecular Mass

63801 Da

Amino Acid Count

552

Genomic Location

chr12:4,487,735-4,538,469

Gene Map Locus

12p13.32

Description

This gene is highly conserved from nematodes to humans. In rat, the orthologous gene encodes a cytoplasmic protein that is involved in mast cell degranulation. The human gene has been implicated in autosomal recessive intellectual disability. [provided by RefSeq, Sep 2016]

Epidemiology in the Arab World

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Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_020374.4:c.1566+1G>T	Saudi Arabia	NC_000012.12:g.4490521C>A		Likely Pathogenic	Intellectual Developmental Disorder, Autosomal Recessive 66	NG_051648.1:g.52988G>T; NM_020374.4:c.1566+1G>T
NM_020374.4:c.639_640insACAA	Saudi Arabia	NC_000012.12:g.4525344_4525345insGTTT	Likely Pathogenic, Pathogenic	Likely Pathogenic	Intellectual Developmental Disorder, Autosomal Recessive 66	NG_051648.1:g.18166_18167insACAA; NM_020374.4:c.639_640insACAA; NP_065107.1:p.Gln214ThrfsTer31	730882197	183276

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=c12orf4

Contributors

Pratibha Nair: 04.10.2022

Edit History

Pratibha Nair: 04.10.2022

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