Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1187
Gene name Gene Name - the full gene name approved by the HGNC.	Chloride voltage-gated channel Ka
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CLCNKA
Synonyms (NCBI Gene) Gene synonyms aliases	CLCK1, ClC-K1, hClC-Ka
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p36.13
Summary Summary of gene provided in NCBI Entrez Gene.	This gene is a member of the CLC family of voltage-gated chloride channels. The encoded protein is predicted to have 12 transmembrane domains, and requires a beta subunit called barttin to form a functional channel. It is thought to function in salt reabs

Show/Hide all(3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909137	G>C,T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs121909138	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1557458426	G>T	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(5)

miRTarBase ID	miRNA	Experiments
MIRT894890	hsa-miR-1292	CLIP-seq
MIRT894891	hsa-miR-3192	CLIP-seq
MIRT894892	hsa-miR-4314	CLIP-seq
MIRT894893	hsa-miR-4471	CLIP-seq
MIRT894894	hsa-miR-4646-5p	CLIP-seq

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
KLF15	Unknown	10982849;11473619
MAZ	Unknown	10982849;11473619

Show/Hide all(24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005247	Function	Voltage-gated chloride channel activity	IBA
GO:0005247	Function	Voltage-gated chloride channel activity	IEA
GO:0005247	Function	Voltage-gated chloride channel activity	TAS	8041726
GO:0005254	Function	Chloride channel activity	IDA	12111250
GO:0005254	Function	Chloride channel activity	IEA
GO:0005515	Function	Protein binding	IPI	12111250, 32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8041726
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IBA
GO:0006821	Process	Chloride transport	IEA
GO:0015108	Function	Chloride transmembrane transporter activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0030321	Process	Transepithelial chloride transport	TAS	8041726
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0042802	Function	Identical protein binding	IPI	17562318
GO:0046872	Function	Metal ion binding	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070293	Process	Renal absorption	IEA
GO:0070293	Process	Renal absorption	TAS	8041726
GO:1902476	Process	Chloride transmembrane transport	IEA

MIM	HGNC	e!Ensembl
602024	2026	ENSG00000186510

Protein

UniProt ID

P51800

Protein name

Chloride channel protein ClC-Ka (Chloride channel Ka) (ClC-K1)

Protein function

Anion-selective channel permeable to small monovalent anions with ion selectivity for chloride > bromide > nitrate > iodide (PubMed:11734858, PubMed:12111250). Forms a homodimeric channel where each subunit has its own ion conduction pathway. Ma

PDB

2PFI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00654	Voltage_CLC	102 → 514	Voltage gated chloride channel	Family
PF00571	CBS	547 → 605	CBS domain	Domain

Sequence

MEELVGLREGFSGDPVTLQELWGPCPHIRRAIQGGLEWLKQKVFRLGEDWYFLMTLGVLM
ALVSYAMNFAIGCVVRAHQWLYREIGDSHLLRYLSWTVYPVALVSFSSGFSQSITPSSGG
SGIPELKTMLAGVILEDYLDIKNFGAKVVGLSCTLATGSTLFLGKVGPFVHLSVMIAAYL
GRVRTTTIGEPENKSKQNEMLVAAAAVGVATVFAAPFSGVLFSIEVMSSHFSVRDYWRGF
FAATCGAFIFRLLAVFNSEQETITSLYKTSFRVDVPFDLPEIFFFVALGGICGVLSCAYL
FCQRTFLSFIKTNRYSSKLLATSKPVYSALATLLLASITYPPGVGHFLASRLSMKQHLDS
LFDNHSWALMTQNSSPPWPEELDPQHLWWEWYHPRFTIFGTLAFFLVMKFWMLILATTIP
MPAGYFMPIFILGAAIGRLLGEALAVAFPEGIVTGGVTNPIMPGGYALAGAAAFSGAVTH
TISTALLAFELTGQIVHALPVLMAVLAANAIAQSCQPSFYDGTIIVKKLPYLPRILGRNI
GSHHVRVEHFMNHSITTLAKDTPLEEVVKVVTSTDVTEYPLVESTESQILVGIVQRAQLV
QALQAEPPSRAPGHQQCLQDILARGCPTEPVTLTLFSETTLHQAQNLFKLLNLQSLFVTS
RGRAVGCVSWVEMKKAISNLTNPPAPK

Sequence length

687

Interactions

View interactions

	Reactome
			Stimuli-sensing channels

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Bartter syndrome	Bartter disease type 4B	rs121909137, rs121909138	N/A
deafness	Deafness	rs1557458426	N/A
Hearing Loss	Hearing loss, autosomal recessive	rs1557458426	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Heart Failure	Heart failure	N/A	N/A	GWAS

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alkalosis	Associate	38069401
Bartter Syndrome	Associate	21937999, 38069401
Cardiomyopathy Dilated	Associate	32916098
Cardiovascular Abnormalities	Associate	24454898
Daneman Davy Mancer syndrome	Associate	38069401
Essential Hypertension	Associate	25919862
Gitelman Syndrome	Associate	30999883
Glioma	Associate	32725165
Hearing Loss	Associate	38069401
Hearing Loss Sensorineural	Associate	38069401
Heart Failure	Associate	21248228, 22499703
Hypertension	Associate	17652939, 28334417
Nonsyndromic sensorineural hearing loss	Associate	21937999, 38069401

CLCNKA (chloride voltage-gated channel Ka)