SLC9B1

gene

On this page

Also known as NHA1

Summary

SLC9B1 (solute carrier family 9 member B1, HGNC:24244) is a protein-coding gene on chromosome 4q24, encoding Sodium/hydrogen exchanger 9B1 (Q4ZJI4). Sperm-specific Na(+)/H(+) exchanger involved in intracellular pH regulation of spermatozoa. It is a selective cancer dependency (DepMap: 15.5% of cell lines).

The protein encoded by this gene is a sodium/hydrogen exchanger and transmembrane protein. Highly conserved orthologs of this gene have been found in other mammalian species. The expression of this gene may be limited to testis. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 150159 — RefSeq curated summary.

At a glance

GWAS associations: 9
Clinical variants (ClinVar): 77 total — 1 pathogenic, 1 likely-pathogenic
Cancer dependency (DepMap): dependent in 15.5% of screened cell lines
MANE Select transcript: NM_139173

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24244
Approved symbol	SLC9B1
Name	solute carrier family 9 member B1
Location	4q24
Locus type	gene with protein product
Status	Approved
Aliases	NHA1
Ensembl gene	ENSG00000164037
Ensembl biotype	protein_coding
OMIM	611527
Entrez	150159

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 6 protein_coding, 4 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000296422, ENST00000394789, ENST00000503584, ENST00000504216, ENST00000509614, ENST00000510243, ENST00000510559, ENST00000511253, ENST00000512651, ENST00000514340, ENST00000514972, ENST00000916167

RefSeq mRNA: 2 — MANE Select: NM_139173 NM_001100874, NM_139173

CCDS: CCDS34041, CCDS47119

Canonical transcript exons

ENST00000296422 — 12 exons

Exon	Start	End
ENSE00001652192	102991643	102991712
ENSE00001735298	102989800	102989941
ENSE00001803968	102949257	102949427
ENSE00002085617	103019599	103019705
ENSE00002456940	102945193	102945320
ENSE00002484120	102946647	102946789
ENSE00002487384	102900928	102901332
ENSE00003527699	102910439	102910588
ENSE00003552563	102905514	102905650
ENSE00003567788	102932124	102932299
ENSE00003572492	102906536	102906644
ENSE00003651197	102911431	102911537

Expression profiles

Bgee: expression breadth ubiquitous, 161 present calls, max score 92.46.

FANTOM5 (CAGE): breadth broad, TPM avg 2.3376 / max 159.6841, expressed in 802 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
53431	2.3376	802

Top tissues by expression

246 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	92.46	silver quality
left testis	UBERON:0004533	91.98	gold quality
right testis	UBERON:0004534	91.28	gold quality
testis	UBERON:0000473	89.66	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.02	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.46	gold quality
calcaneal tendon	UBERON:0003701	72.83	gold quality
islet of Langerhans	UBERON:0000006	69.08	gold quality
stromal cell of endometrium	CL:0002255	68.44	gold quality
adrenal tissue	UBERON:0018303	68.00	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	66.37	gold quality
right adrenal gland	UBERON:0001233	65.44	gold quality
left adrenal gland cortex	UBERON:0035825	65.03	gold quality
ventricular zone	UBERON:0003053	65.01	gold quality
lymph node	UBERON:0000029	64.95	gold quality
right coronary artery	UBERON:0001625	64.88	gold quality
left adrenal gland	UBERON:0001234	64.84	gold quality
granulocyte	CL:0000094	64.82	gold quality
embryo	UBERON:0000922	64.77	gold quality
ganglionic eminence	UBERON:0004023	64.77	gold quality
tibial nerve	UBERON:0001323	64.57	gold quality
left ovary	UBERON:0002119	64.57	gold quality
right adrenal gland cortex	UBERON:0035827	64.05	gold quality
spinal cord	UBERON:0002240	64.00	gold quality
adrenal gland	UBERON:0002369	63.82	gold quality
corpus callosum	UBERON:0002336	63.79	gold quality
cerebellar hemisphere	UBERON:0002245	63.74	gold quality
Brodmann (1909) area 9	UBERON:0013540	63.62	gold quality
cerebellar cortex	UBERON:0002129	63.52	gold quality
right hemisphere of cerebellum	UBERON:0014890	63.15	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-112	yes	6.96
E-ANND-3	yes	5.79

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

13 targeting SLC9B1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-3182	99.40	68.15	2454
HSA-MIR-6507-3P	99.35	67.32	1059
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-3198	97.84	65.64	579
HSA-MIR-4309	97.84	65.45	588
HSA-MIR-215-3P	97.02	68.01	1209

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 15.5% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 3)

cloning and characterization of a novel NHEDC1 (Na+/H+ exchanger like domain containing 1) gene; it was mapped to chromosome 4p24; molecular weight of NHEDC1 is about 56 KDa; it is exclusively expressed in the testis (PMID:16850186)
Results identified multiple cis-acting DNA regulatory elements in the 5 end of the SLC9B1 gene and shown that DNA methylation at these elements could provide mechanisms by which SLC9B1 expression is restricted to male germ cells. (PMID:25701605)
DNA methylation patterns in maternal blood at four CpG sites in SLC9B1 are predictive of fetal intolerance of labor during the late second and early third trimester. (PMID:29235940)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	SLC9B2	ENSDARG00000052700
mus_musculus	Slc9b1	ENSMUSG00000050150
rattus_norvegicus	Slc9b1	ENSRNOG00000069829
drosophila_melanogaster	Nha1	FBGN0031865
drosophila_melanogaster	Nha2	FBGN0263390
caenorhabditis_elegans		WBGENE00009617
caenorhabditis_elegans		WBGENE00009618
caenorhabditis_elegans		WBGENE00010214

Paralogs (1): SLC9B2 (ENSG00000164038)

Protein

Protein identifiers

Sodium/hydrogen exchanger 9B1 — Q4ZJI4 (reviewed: Q4ZJI4)

Alternative names: Na(+)/H(+) exchanger-like domain-containing protein 1, Sodium/hydrogen exchanger-like domain-containing protein 1, Solute carrier family 9, subfamily B member 1

All UniProt accessions (6): D6RA80, D6RFK4, D6RGI9, D6RHJ0, H0Y9Z0, Q4ZJI4

UniProt curated annotations — full annotation on UniProt →

Function. Sperm-specific Na(+)/H(+) exchanger involved in intracellular pH regulation of spermatozoa. Involved in sperm motility and fertility.

Subcellular location. Cell projection. Cilium. Flagellum membrane.

Tissue specificity. Expressed only in the testis.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q4ZJI4-1	1	yes
Q4ZJI4-2	2
Q4ZJI4-3	3
Q4ZJI4-5	4

RefSeq proteins (2): NP_001094344, NP_631912* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006153	Cation/H_exchanger_TM	Domain
IPR038770	Na+/solute_symporter_sf	Homologous_superfamily
IPR051843	CPA1_transporter	Family

Pfam: PF00999

UniProt features (23 total): transmembrane region 13, splice variant 4, compositionally biased region 2, chain 1, region of interest 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q4ZJI4-F1	79.20	0.39

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-2672351	Stimuli-sensing channels
R-HSA-382551	Transport of small molecules
R-HSA-983712	Ion channel transport

MSigDB gene sets: 75 (showing top): GOBP_SINGLE_FERTILIZATION, chr4q24, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_CILIUM_MOVEMENT, WTGAAAT_UNKNOWN, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOMF_PROTON_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOBP_REGULATION_OF_PH, GOBP_MONOATOMIC_ION_HOMEOSTASIS, GOBP_FERTILIZATION, GOBP_TRANSMEMBRANE_TRANSPORT

GO Biological Process (11): single fertilization (GO:0007338), flagellated sperm motility (GO:0030317), monoatomic ion transmembrane transport (GO:0034220), regulation of intracellular pH (GO:0051453), obsolete inorganic cation transmembrane transport (GO:0098662), monoatomic ion transport (GO:0006811), monoatomic cation transport (GO:0006812), sodium ion transport (GO:0006814), sodium ion transmembrane transport (GO:0035725), transmembrane transport (GO:0055085), proton transmembrane transport (GO:1902600)

GO Molecular Function (2): sodium:proton antiporter activity (GO:0015385), antiporter activity (GO:0015297)

GO Cellular Component (6): plasma membrane (GO:0005886), sperm principal piece (GO:0097228), cilium (GO:0005929), membrane (GO:0016020), motile cilium (GO:0031514), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Ion channel transport	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
monoatomic ion transport	2
transport	2
monoatomic cation transmembrane transport	2
fertilization	1
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
transmembrane transport	1
regulation of pH	1
intracellular monoatomic cation homeostasis	1
regulation of biological quality	1
metal ion transport	1
sodium ion transport	1
cellular process	1
sodium ion transmembrane transporter activity	1
metal cation:proton antiporter activity	1
secondary active transmembrane transporter activity	1
membrane	1
cell periphery	1
sperm flagellum	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cilium	1

Protein interactions and networks

STRING

584 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC9B1	SLC9C1	Q4G0N8	707
SLC9B1	SLC9C2	Q5TAH2	634
SLC9B1	SLC9A5	Q14940	616
SLC9B1	SLC9A9	Q8IVB4	603
SLC9B1	SLC9A6	Q92581	599
SLC9B1	SLC9A8	Q9Y2E8	597
SLC9B1	SLC9A1	P19634	592
SLC9B1	CPA2	P48052	585
SLC9B1	BCCIP	Q9P287	541
SLC9B1	GARIN2	Q8N9W8	531
SLC9B1	SLC9A2	Q9UBY0	522
SLC9B1	SLC9A4	Q6AI14	496
SLC9B1	CPA1	P15085	494
SLC9B1	CATSPER1	Q8NEC5	474
SLC9B1	WBP2NL	Q6ICG8	461

IntAct

3 interactions, top by confidence:

A	B	Type	Score
AMFR	SLC9B1	psi-mi:“MI:0915”(physical association)	0.400
SLC9B1	CFTR	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (2): SLC9B1 (PCA), AMFR (Affinity Capture-MS)

ESM2 similar proteins: A0A2K2BF92, A0A6P3HVI0, A1L3P4, A2VDL4, A4IHB9, B9H7I1, D3ZJ25, D4A7H1, E7EXX2, F7B113, O00341, O35874, O54902, O57321, P24942, P31596, P31597, P43003, P43004, P43005, P43006, P46411, P48763, P49281, P49282, P50482, P51906, P51907, P51912, P56564, Q0D7E4, Q3ZAS0, Q4R7S2, Q4ZJI4, Q5BKR2, Q5M7K3, Q5R6B8, Q6DFC0, Q86UD5, Q8BLV3

Diamond homologs: A0A6P3HVI0, A4IHB9, A6NJY1, Q4R7S2, Q4ZJI4, Q5BKR2, Q5R6B8, Q86UD5, Q8C0X2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

77 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	52
Likely benign	12
Benign	1

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
2503084	NM_139173.4(SLC9B1):c.1338_1339del (p.Leu447fs)	Pathogenic
1703532	GRCh37/hg19 4q24(chr4:102851823-104641864)	Likely pathogenic

SpliceAI

2687 predictions. Top by Δscore:

Variant	Effect	Δscore
4:102887339:A:AG	acceptor_gain	1.0000
4:102887340:G:GG	acceptor_gain	1.0000
4:102906645:C:CC	acceptor_gain	1.0000
4:102932119:TTTA:T	donor_loss	1.0000
4:102932120:TTACC:T	donor_loss	1.0000
4:102932121:TACCT:T	donor_loss	1.0000
4:102932122:A:T	donor_loss	1.0000
4:102932123:C:CC	donor_loss	1.0000
4:102932185:A:AC	donor_gain	1.0000
4:102932186:C:CC	donor_gain	1.0000
4:102932219:T:TA	donor_gain	1.0000
4:102932295:CAAAA:C	acceptor_gain	1.0000
4:102932296:AAAA:A	acceptor_gain	1.0000
4:102932297:AAA:A	acceptor_gain	1.0000
4:102932298:AA:A	acceptor_gain	1.0000
4:102932300:C:CC	acceptor_gain	1.0000
4:102934919:C:CT	donor_gain	1.0000
4:102934920:T:TT	donor_gain	1.0000
4:102934932:C:CT	donor_gain	1.0000
4:102934933:T:TT	donor_gain	1.0000
4:102934937:T:TA	donor_gain	1.0000
4:102991637:TTTTA:T	donor_loss	1.0000
4:102991638:TTTA:T	donor_loss	1.0000
4:102991639:TTACC:T	donor_loss	1.0000
4:102991640:TA:T	donor_loss	1.0000
4:102991642:C:CT	donor_loss	1.0000
4:102991709:CATG:C	acceptor_gain	1.0000
4:102991711:TG:T	acceptor_gain	1.0000
4:102991713:C:CC	acceptor_gain	1.0000
4:103019602:CAA:C	donor_gain	1.0000

AlphaMissense

3338 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:102906588:A:C	F381L	0.997
4:102906588:A:T	F381L	0.997
4:102906590:A:G	F381L	0.997
4:102905527:T:A	K440I	0.995
4:102932155:G:C	F266L	0.994
4:102932155:G:T	F266L	0.994
4:102932157:A:G	F266L	0.994
4:102945209:A:G	W213R	0.994
4:102945209:A:T	W213R	0.994
4:102905514:C:A	Q444H	0.993
4:102905514:C:G	Q444H	0.993
4:102905526:T:A	K440N	0.993
4:102905526:T:G	K440N	0.993
4:102932185:A:C	S256R	0.993
4:102932185:A:T	S256R	0.993
4:102932187:T:G	S256R	0.993
4:102945194:C:G	G218R	0.993
4:102945193:C:T	G218D	0.991
4:102901223:G:T	A481D	0.990
4:102901323:C:G	G448R	0.990
4:102906614:A:G	W373R	0.990
4:102906614:A:T	W373R	0.990
4:102932188:G:C	S255R	0.990
4:102932188:G:T	S255R	0.990
4:102932190:T:G	S255R	0.990
4:102905611:C:G	R412P	0.989
4:102906612:C:A	W373C	0.989
4:102906612:C:G	W373C	0.989
4:102945247:G:T	A200D	0.988
4:102901322:C:T	G448D	0.987

dbSNP variants (sampled 300 via entrez): RS1000026364 (4:103007153 G>A), RS1000041969 (4:102903026 T>C), RS1000072864 (4:102903599 G>A), RS1000095625 (4:102994089 C>A,T), RS1000113193 (4:103000831 C>G), RS1000122566 (4:103019760 A>G), RS1000175984 (4:103013134 G>T), RS1000223629 (4:102894704 C>T), RS1000261050 (4:102993956 T>C), RS1000279528 (4:102912397 G>T), RS10003326 (4:102948193 C>G,T), RS1000355223 (4:102887951 A>C), RS1000392197 (4:103000790 C>A,T), RS1000403139 (4:102986771 A>G), RS1000409806 (4:102938789 A>G)

Disease associations

OMIM: gene MIM:611527 | disease phenotypes: MIM:604928, MIM:616576, MIM:276900

GenCC curated gene-disease

Mondo (3): Wolfram syndrome 2 (MONDO:0011502), immunodeficiency, common variable, 12 (MONDO:0014697), Usher syndrome (MONDO:0019501)

Orphanet (4): Wolfram syndrome (Orphanet:3463), OBSOLETE: Common variable immunodeficiency (Orphanet:1572), NFKB1-related immune dysregulation (Orphanet:696874), Usher syndrome (Orphanet:886)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST004946_70	Schizophrenia	3.000000e-08
GCST006061_22	Atrial fibrillation	2.000000e-12
GCST006061_23	Atrial fibrillation	4.000000e-11
GCST006414_85	Atrial fibrillation	4.000000e-08
GCST007201_466	Schizophrenia	4.000000e-08
GCST008919_4	Asthma and attention deficit hyperactivity disorder	3.000000e-08
GCST009379_265	Type 2 diabetes	2.000000e-10
GCST009597_14	Multiple sclerosis	7.000000e-16
GCST90013406_237	Liver enzyme levels (alkaline phosphatase)	2.000000e-15

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004533	alkaline phosphatase measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D052245	Usher Syndromes	C09.218.458.341.186.500.500; C09.218.458.341.887.886; C10.597.751.418.341.186.500.500; C10.597.751.418.341.887.886; C10.597.751.941.162.625.500; C11.768.585.658.500.813; C11.966.075.375.500; C16.131.077.299.500; C16.320.290.684.500; C23.888.592.763.393.341.887.886
C565733	Wolfram Syndrome 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — SLC9 family of sodium/hydrogen exchangers

CTD chemical–gene interactions

14 total (human), top 14 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, decreases methylation	2
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
benzo(e)pyrene	increases methylation	1
bisphenol S	decreases expression	1
Acetaminophen	increases expression	1
Benzo(a)pyrene	increases methylation	1
Methapyrilene	increases methylation	1
Oxygen	increases expression	1
Polystyrenes	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
2,4-Dichlorophenoxyacetic Acid	decreases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases expression	1
Permethrin	increases expression	1

Clinical trials (associated diseases)

18 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT07290530	PHASE3	NOT_YET_RECRUITING	24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT02065011	PHASE2	ACTIVE_NOT_RECRUITING	A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of SAR421869 in Patients With Usher Syndrome Type 1B
NCT01505062	PHASE1/PHASE2	TERMINATED	Study of SAR421869 in Participants With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B
NCT04355689	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Safety and Efficacy of NPI-001 Tablets for RP Associated With Usher Syndrome
NCT06789445	PHASE1/PHASE2	RECRUITING	A Study to Investigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO)
NCT00004345	Not specified	TERMINATED	Study of Dietary N-3 Fatty Acids in Patients With Retinitis Pigmentosa and Usher Syndrome
NCT00016471	Not specified	COMPLETED	A Genetic Analysis of Usher Syndrome in Ashkenazi Jews
NCT00106743	Not specified	COMPLETED	Natural History and Genetic Studies of Usher Syndrome
NCT01954953	Not specified	UNKNOWN	Clinical and Genetic Examination of Usher Syndrome Patients’ Cohort in Europe
NCT02435940	Not specified	RECRUITING	Inherited Retinal Degenerative Disease Registry
NCT03319524	Not specified	COMPLETED	Clinical and Genetic Testing of Patients With Usher Syndrome
NCT03901391	Not specified	COMPLETED	Prospective Open Clinical and Genetic Study of Patients With Retinitis Pigmentosa
NCT03990727	Not specified	UNKNOWN	Phenotype Correlates Genotype of Inherited Retina Dystrophies, Retinitis Pigmentosa, Con>Rod Dystrophies.
NCT04665726	Not specified	RECRUITING	Natural History Study of Usher Syndrome ( Light4Deaf )
NCT04906135	Not specified	COMPLETED	Auditory Neural Function in Implanted Patients With Usher Syndrome
NCT05355415	Not specified	RECRUITING	Adaptive Optics Imaging of Outer Retinal Diseases
NCT07278843	Not specified	RECRUITING	Natural History of Photoreceptor Degeneration in USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7A
NCT07548944	Not specified	RECRUITING	Observational Study to Investigate the Short-term Effects of Transcorneal Electrical Stimulation on Visual Performance

Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): immunodeficiency, common variable, 12, Usher syndrome, Wolfram syndrome 2