Harmonizome 3.0

Nail disorder, nonsyndromic congenital, 9

opsin 1 (cone pigments), medium-wave-sensitive

This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness. [provided by RefSeq, Mar 2009]

opsin 1 (cone pigments), short-wave-sensitive

This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008]

opsin 1 (cone pigments), long-wave-sensitive

This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called red cone photopigment or long-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. This gene and the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of partial, protanopic colorblindness. [provided by RefSeq, Jul 2008]

cone dystrophy 2 (X-linked)

opsin 1 (cone pigments), medium-wave-sensitive 2

This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness. [provided by RefSeq, Mar 2009]

phosphodiesterase 6C, cGMP-specific, cone, alpha prime

This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]

phosphodiesterase 6H, cGMP-specific, cone, gamma

This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010]

retinal cone dystrophy 1

LLP homolog, long-term synaptic facilitation (Aplysia)

Enables RNA binding activity. Predicted to be involved in dendrite extension and positive regulation of dendritic spine development. Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

regulating synaptic membrane exocytosis 4

Predicted to enable transmembrane transporter binding activity. Predicted to be a structural constituent of presynaptic active zone. Predicted to be involved in several processes, including regulation of synapse organization; regulation of synaptic vesicle exocytosis; and synaptic vesicle exocytosis. Predicted to be located in synaptic membrane. Predicted to be active in glutamatergic synapse; presynaptic active zone cytoplasmic component; and presynaptic membrane. [provided by Alliance of Genome Resources, Mar 2025]

regulating synaptic membrane exocytosis 1

The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]

regulating synaptic membrane exocytosis 2

The protein encoded by this gene is a presynaptic protein that interacts with RAB3, a protein important for normal neurotransmitter release. The encoded protein can also bind several other synaptic proteins, including UNC-13 homolog B, ELKS/Rab6-interacting/CAST family member 1, and synaptotagmin 1. This protein is involved in synaptic membrane exocytosis. Polymorphisms in this gene have been associated with degenerative lumbar scoliosis. [provided by RefSeq, Feb 2017]

regulating synaptic membrane exocytosis 3

Predicted to enable transmembrane transporter binding activity. Predicted to be a structural constituent of presynaptic active zone. Predicted to be involved in several processes, including regulated exocytosis; regulation of synapse organization; and regulation of synaptic vesicle exocytosis. Predicted to be located in presynaptic active zone. Predicted to be active in several cellular components, including postsynaptic cytosol; presynaptic active zone cytoplasmic component; and presynaptic membrane. [provided by Alliance of Genome Resources, Mar 2025]

synaptic vesicle glycoprotein 2A

The protein encoded by this gene is one of three related synaptic vesicle proteins. The encoded protein may interact with synaptotagmin to enhance low frequency neurotransmission in quiescent neurons. [provided by RefSeq, Jun 2016]

synaptic vesicle glycoprotein 2C

Predicted to enable transmembrane transporter activity. Predicted to be involved in several processes, including chemical synaptic transmission; neurotransmitter transport; and regulation of synaptic vesicle exocytosis. Predicted to be located in plasma membrane and synaptic vesicle. Predicted to be active in dopaminergic synapse and synaptic vesicle membrane. [provided by Alliance of Genome Resources, Mar 2025]

synaptic vesicle glycoprotein 2B

This gene encodes a member of the synaptic vesicle proteins 2 (SV2) family and major facilitator superfamily of proteins. This protein and other members of the family are localized to synaptic vesicles and may function in the regulation of vesicle trafficking and exocytosis. Studies in mice suggest that the encoded protein may act as a protein receptor for botulinum neurotoxin E in neurons, and that this protein may be important for the integrity of the glomerular filtration barrier. This gene shows reduced expression in areas of synaptic loss in the hippocampus of human temporal lobe epilepsy patients. [provided by RefSeq, Sep 2016]

LLP homolog, long-term synaptic facilitation (Aplysia) pseudogene

proline rich 7 (synaptic)

Enables long-chain fatty acid binding activity; protein tyrosine kinase binding activity; and ubiquitin-like protein ligase binding activity. Involved in positive regulation of apoptotic process; positive regulation of cysteine-type endopeptidase activity; and regulation of transcription by RNA polymerase I. Located in several cellular components, including cytosol; nucleoplasm; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

synaptic vesicle 2-related protein

synaptic Ras GTPase activating protein 1

This gene encodes a Ras GTPase activating protein that is a member of the N-methyl-D-aspartate receptor complex. The N-terminal domain of the protein contains a Ras-GAP domain, a pleckstrin homology domain, and a C2 domain that may be involved in binding of calcium and phospholipids. The C-terminal domain consists of a ten histidine repeat region, serine and tyrosine phosphorylation sites, and a T/SXV motif required for postsynaptic scaffold protein interaction. The encoded protein negatively regulates Ras, Rap and alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor trafficking to the postsynaptic membrane to regulate synaptic plasticity and neuronal homeostasis. Allelic variants of this gene are associated with intellectual disability and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

inhibitory synaptic factor 2A

Predicted to be involved in inhibitory postsynaptic potential. Predicted to be located in synapse. Predicted to be active in GABA-ergic synapse and postsynaptic density. [provided by Alliance of Genome Resources, Mar 2025]

inhibitory synaptic factor family member 2B

Predicted to be involved in inhibitory postsynaptic potential. Predicted to be active in postsynaptic density. [provided by Alliance of Genome Resources, Mar 2025]

inhibitory synaptic factor 1

Predicted to be involved in inhibitory postsynaptic potential. Predicted to be located in synapse. Predicted to be active in GABA-ergic synapse and postsynaptic density. [provided by Alliance of Genome Resources, Mar 2025]

Speech-sound disorder

Orthostatic hypotensive disorder of Streeten

Major affective disorder-9, susceptibility to

Major affective disorder-8, susceptibility to

Major affective disorder 5

major affective disorder 1

Major affective disorder 3, early onset

Major depressive disorder 2

Major depressive disorder

major affective disorder 2

Major affective disorder 4

Major affective disorder 6

Attention deficit-hyperactivity disorder, susceptibility to, 2

Huntington-like neurodegenerative disorder 2

Panic disorder 1

panic disorder 2

panic disorder 3

Bleeding disorder, east Texas type

Attention deficit-hyperactivity disorder, susceptibility to, 4

Attention deficit-hyperactivity disorder, susceptibility to, 5

Attention deficit-hyperactivity disorder, susceptibility to, 6

Attention deficit-hyperactivity disorder, susceptibility to, 1

Attention deficit-hyperactivity disorder, susceptibility to, 2

schizophrenia disorder 8

schizophrenia disorder 7

schizophrenia disorder 6

schizophrenia disorder 1

schizophrenia disorder 3

schizophrenia disorder 10 (periodic catatonia)

cerebellar ataxia 3 (cerebellar parenchyma disorder 1)

schizophrenia disorder 2

pigment disorder, reticulate

cataract, congenital, with microphthalmia

Myopathy, congenital, with fiber-type disproportion, X-linked

nephrosis 1, congenital, Finnish type (nephrin)

This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]

Cataract, congenital cerulean type, 5

Cataract, autosomal recessive congenital 3

cataract, congenital nuclear, autosomal recessive

Berardinelli-Seip congenital lipodystrophy 2 (seipin)

This gene encodes the multi-pass transmembrane protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Jul 2024]

hypertrichosis 1 (universalis, congenital)

hypertrichosis 2 (generalized, congenital)

Retinal nonattachment, nonsyndromic congenital

Nance-Horan syndrome (congenital cataracts and dental anomalies)

This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]

Muscular dystrophy, congenital, 1B

congenital dyserythropoietic anemia, type III

Leber congenital amaurosis 5-like

Predicted to be involved in intraciliary transport. Predicted to be active in axoneme. [provided by Alliance of Genome Resources, Mar 2025]

nystagmus 2, congenital autosomal dominant

nystagmus 3, congenital autosomal dominant

Nystagmus 7, congenital

nystagmus 4, congenital autosomal dominant

Nail dysplasia, isolated congenital

Cataract, congenital, nuclear progressive

Ptosis, hereditary congenital 2

ptosis, congenital 1 (autosomal dominant)

glaucoma 3, primary congenital, C

spinal muscular atrophy, congenital nonprogressive, of lower limbs

Anosmia, isolated congenital

Congenital heart defects, multiple types, 3

muscular dystrophy, congenital, merosin-positive

Hypothyroidism, congenital, nongoitrous, 3

Leber congenital amaurosis 5

This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009]

cataract, congenital, cerulean type, 1

cataract, congenital, total

cataract, congenital, Volkmann type

microcoria, congenital

Hernia, congenital diaphragmatic 2

Ichthyosis, congenital, autosomal recessive 9

Ichthyosis, congenital, autosomal recessive 7

Preauricular fistulae, congenital