SLC12A9

Chr 7q22.1

solute carrier family 12 member 9

Aliases:: CIP1
MANE:: ENST00000354161.8

OMIM: 616861 ↗NCBI: 56996 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC12A9 · Q9BXP2

v62025-08-01

Predicted Aligned Error matrix for SLC12A9 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.3/ 100

Confident

914 residues

Confidence breakdown

Very high(≥ 90)41%
Confident(70–90)41%
Low(50–70)8%
Very low(< 50)10%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Capillary malformation - arteriovenous malformation
0.45
hair color
0.38
lymphatic malformation 7
0.34
ciliopathy
0.28
iris disorder
0.28
neurodevelopmental disorder
0.19
complex neurodevelopmental disorder
0.18
Abnormality of the cardiovascular system
0.18
response to stimulus
0.10
cataract
0.09

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

Protein function (UniProt)

Solute carrier family 12 member 9

May be an inhibitor of SLC12A1. Seems to correspond to a subunit of a multimeric transport system and thus, additional subunits may be required for its function (PubMed:10871601). May play a role in lysosomal ion flux and osmoregulation (PubMed:38334070)