SPECC1L

Chr 22q11.23

sperm antigen with calponin homology and coiled-coil domains 1 like

Aliases:: KIAA0376
MANE:: ENST00000314328.14

OMIM: 614140 ↗NCBI: 23384 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

SPECC1L · Q69YQ0

v62025-08-01

Predicted Aligned Error matrix for SPECC1L — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.6/ 100

Low

1,117 residues

Confidence breakdown

Very high(≥ 90)35%
Confident(70–90)16%
Low(50–70)5%
Very low(< 50)44%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia
Other - please specifiy in evaluation comments

Disease associations (Open Targets)

Teebi hypertelorism syndrome 1
0.70
Opitz G/BBB syndrome
0.65
Tessier number 4 facial cleft
0.62
Teebi hypertelorism syndrome
0.52
oculomaxillofacial dysostosis
0.49
neurodegenerative disease
0.49
Hypertelorism, Teebi type
0.47
Intellectual disability
0.45
lateral facial cleft
0.37
commissural facial cleft
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Cytospin-A

Involved in cytokinesis and spindle organization. May play a role in actin cytoskeleton organization and microtubule stabilization and hence required for proper cell adhesion and migration