GenTIGS

Coiled-coil domain containing 88C (CCDC88C) Associated conditions: 1. Spinocerebellar ataxia type 40 2. Spastic ataxia

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001080414.4	NP_001073883.2	NC_000014.9	(91271322..91417819, complement)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NR_189158.1	-	NC_000014.9	(91271322..91417819, complement)	Reference GRCh38.p14 Primary Assembly	-
3	REVIEWED	NR_189159.1	-	NC_000014.9	(91271322..91417819, complement)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 169 reference articles

Variant Information Coiled-coil domain containing 88C (CCDC88C) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Coiled-coil domain containing 88C (CCDC88C)

ClinVar variants:Revealing mutagenic patterns

GO Term of Coiled-coil domain containing 88C (CCDC88C)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	enables	G-protein alpha-subunit binding	Function	-
2	Homo sapiens	IPI	enables	G-protein alpha-subunit binding	Function	26126266
3	Homo sapiens	IDA	involved_in	apical constriction	Process	30948426
4	Homo sapiens	IDA	enables	guanyl-nucleotide exchange factor activity	Function	26126266
5	Homo sapiens	IEA	enables	guanyl-nucleotide exchange factor activity	Function	-
6	Homo sapiens	IPI	enables	frizzled binding	Function	26126266
7	Homo sapiens	IPI	enables	protein binding	Function	26126266
8	Homo sapiens	IBA	is_active_in	cytoplasm	Component	-
9	Homo sapiens	IDA	located_in	cytoplasm	Component	25062847 26126266
10	Homo sapiens	IEA	located_in	cytoplasm	Component	-
11	Homo sapiens	IBA	is_active_in	centrosome	Component	-
12	Homo sapiens	IEA	involved_in	signal transduction	Process	-
13	Homo sapiens	IDA	involved_in	small GTPase-mediated signal transduction	Process	26126266
14	Homo sapiens	IBA	enables	microtubule binding	Function	-
15	Homo sapiens	IEA	enables	microtubule binding	Function	-
16	Homo sapiens	IEA	involved_in	Wnt signaling pathway	Process	-
17	Homo sapiens	IDA	located_in	cell junction	Component	-
18	Homo sapiens	IMP	located_in	cell junction	Component	30948426
19	Homo sapiens	IEA	enables	PDZ domain binding	Function	-
20	Homo sapiens	ISS	enables	PDZ domain binding	Function	14750955
21	Homo sapiens	IBA	involved_in	cytoskeleton-dependent intracellular transport	Process	-
22	Homo sapiens	IEA	involved_in	cytoskeleton-dependent intracellular transport	Process	-
23	Homo sapiens	IBA	involved_in	cytoplasmic microtubule organization	Process	-
24	Homo sapiens	IEA	involved_in	protein destabilization	Process	-
25	Homo sapiens	ISS	involved_in	protein destabilization	Process	14750955
26	Homo sapiens	IMP	involved_in	non-canonical Wnt signaling pathway	Process	26126266
27	Homo sapiens	ISS	enables	identical protein binding	Function	14750955
28	Homo sapiens	IEA	is_active_in	apical junction complex	Component	-
29	Homo sapiens	IMP	acts_upstream_of_or_within_positive_effect	positive regulation of JNK cascade	Process	25062847
30	Homo sapiens	IEA	enables	protein dimerization activity	Function	-
31	Homo sapiens	IBA	enables	dynein light intermediate chain binding	Function	-
32	Homo sapiens	IEA	located_in	anchoring junction	Component	-
33	Homo sapiens	IMP	involved_in	negative regulation of canonical Wnt signaling pathway	Process	26126266