SLC4A9 solute carrier family 4 member 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC4A9provided by HGNC
Official Full Name: solute carrier family 4 member 9provided by HGNC
Primary source: HGNC:HGNC:11035
See related: Ensembl:ENSG00000113073 MIM:610207; AllianceGenome:HGNC:11035
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AE4
Summary: The protein encoded by this gene is a membrane protein involved in anion exchange. Expression of this gene is mostly limited to the kidney. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Expression: Biased expression in kidney (RPKM 5.2) and testis (RPKM 0.2) See more
Orthologs: mouse all
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Genomic context

Location:: 5q31.3

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (140360194..140375141)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (140885627..140900574)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (139739779..139754726)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chloride:bicarbonate antiporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables sodium,bicarbonate:chloride antiporter activity	IEA Inferred from Electronic Annotation more info
enables sodium:bicarbonate symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables sodium:bicarbonate symporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables sodium:bicarbonate symporter activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in bicarbonate transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in bicarbonate transport	TAS Traceable Author Statement more info
involved_in chloride transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of intracellular pH	IBA Inferred from Biological aspect of Ancestor more info
involved_in saliva secretion	IEA Inferred from Electronic Annotation more info
involved_in sodium ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in apical part of cell	IEA Inferred from Electronic Annotation more info
is_active_in basolateral plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: anion exchange protein 4

Names: anion exchanger 4; sodium bicarbonate cotransporter 5; solute carrier family 4, sodium bicarbonate cotransporter, member 9

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032676.1 RefSeqGene

Range

4993..19940

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001258426.2 → NP_001245355.1 anion exchange protein 4 isoform 3

See identical proteins and their annotated locations for NP_001245355.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses alternate in-frame splice junctions at three different exons compared to variant 1. The resulting isoform (3) lacks three alternate internal segments compared to isoform 1.

Source sequence(s)

AC008438, AF332961, AF336237, CB046220

Consensus CDS

CCDS58975.1

UniProtKB/Swiss-Prot

Q96Q91

Related

ENSP00000410056.2, ENST00000432095.6

Conserved Domains (3) summary

TIGR00834
Location:57 → 900

ae; anion exchange protein

pfam00955
Location:355 → 853

HCO3_cotransp; HCO3- transporter family

pfam07565
Location:84 → 306

Band_3_cyto; Band 3 cytoplasmic domain
NM_001258427.2 → NP_001245356.1 anion exchange protein 4 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon and uses an alternate in-frame splice junction at the 5' end of another exon compared to variant 1. The resulting isoform (4) lacks two alternate internal segments compared to isoform 1.

Source sequence(s)

AC008438, AF332961, BC136262, CB046220

Consensus CDS

CCDS58974.1

UniProtKB/Swiss-Prot

Q96Q91

Related

ENSP00000422855.1, ENST00000506545.5

Conserved Domains (3) summary

TIGR00834
Location:57 → 851

ae; anion exchange protein

pfam00955
Location:355 → 804

HCO3_cotransp; HCO3- transporter family

pfam07565
Location:84 → 306

Band_3_cyto; Band 3 cytoplasmic domain
NM_001258428.2 → NP_001245357.1 anion exchange protein 4 isoform 1

See identical proteins and their annotated locations for NP_001245357.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC008438, AF313465, AF332961, CB046220

Consensus CDS

CCDS58973.1

UniProtKB/Swiss-Prot

B7ZL63, D3DQD4, D3DQD5, D3DQD6, E9PDK1, Q96Q91, Q96RM5, Q9BXF2, Q9BXN3

Related

ENSP00000427661.1, ENST00000507527.1

Conserved Domains (3) summary

TIGR00834
Location:57 → 938

ae; anion exchange protein

pfam00955
Location:379 → 891

HCO3_cotransp; HCO3- transporter family

pfam07565
Location:108 → 330

Band_3_cyto; Band 3 cytoplasmic domain
NM_031467.3 → NP_113655.2 anion exchange protein 4 isoform 2

See identical proteins and their annotated locations for NP_113655.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) lacks an alternate internal segment compared to isoform 1.

Source sequence(s)

AB032762, AC008438, AF332961, CB046220

Consensus CDS

CCDS47278.1

UniProtKB/Swiss-Prot

Q96Q91

Related

ENSP00000424424.1, ENST00000506757.7

Conserved Domains (3) summary

TIGR00834
Location:57 → 914

ae; anion exchange protein

pfam00955
Location:355 → 867

HCO3_cotransp; HCO3- transporter family

pfam07565
Location:84 → 306

Band_3_cyto; Band 3 cytoplasmic domain