Metazoan complexes |
|
Emili & Marcotte labs |
- Home
-
-
-
-
-
-
-
- Download
- Help
- Contact
Details of TPM2 gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| TPM2 | TMSB | P07951 | TPM2_HUMAN | 7169 | ENSG00000198467 | Tropomyosin beta chain | SPROT |
Disease | |||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | OMIM id | ||||||||
Nemaline myopathy 4 (NEM4) [MIM:609285]: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Nemaline myopathy type 4 presents from infancy to childhood with hypotonia and moderate-to-severe proximal weakness with minimal or no progression. Major motor milestones are delayed but independent ambulation is usually achieved, although a wheelchair may be needed in later life. Note=The disease is caused by mutations affecting the gene represented in this entry. | 609285 | Arthrogryposis, distal, 1A (DA1A) [MIM:108120]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected. Note=The disease is caused by mutations affecting the gene represented in this entry. | 108120 |
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal dermatoglyphics, Abnormal external genitalia, Abnormal facial expression, Abnormal facial shape, Abnormal finger flexion creases, Abnormal hand morphology, Abnormal internal genitalia, Abnormality of body height, Abnormality of connective tissue, Abnormality of facial musculature, Abnormality of facial skeleton, Abnormality of facial soft tissue, Abnormality of finger, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of joint mobility, Abnormality of limb bone morphology, Abnormality of male external genitalia, Abnormality of male internal genitalia, Abnormality of mouth size, Abnormality of movement, Abnormality of muscle fibers, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of pelvic girdle bone morphology, Abnormality of phalangeal joints of the hand, Abnormality of phalanx of finger, Abnormality of skeletal morphology, Abnormality of the calcaneus, Abnormality of the central nervous system, Abnormality of the cervical spine, Abnormality of the chin, Abnormality of the cranial nerves, Abnormality of the curvature of the vertebral column, Abnormality of the digits, Abnormality of the ear, Abnormality of the elbow, Abnormality of the eyelid, Abnormality of the face, Abnormality of the foot, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the hand, Abnormality of the head, Abnormality of the hip bone, Abnormality of the hip joint, Abnormality of the integument, Abnormality of the joints of the lower limbs, Abnormality of the joints of the upper limbs, Abnormality of the lower limb, Abnormality of the male genitalia, Abnormality of the mandible, Abnormality of the metatarsal bones, Abnormality of the mouth, Abnormality of the musculature, Abnormality of the musculature of the limbs, Abnormality of the musculature of the neck, Abnormality of the musculature of the upper limbs, Abnormality of the nasal bridge, Abnormality of the nasolabial region, Abnormality of the neck, Abnormality of the nervous system, Abnormality of the nose, Abnormality of the ocular region, Abnormality of the oral cavity, Abnormality of the palate, Abnormality of the palm, Abnormality of the palmar creases, Abnormality of the palpebral fissures, Abnormality of the periorbital region, Abnormality of the peripheral nervous system, Abnormality of the philtrum, Abnormality of the respiratory system, Abnormality of the scapula, Abnormality of the seventh cranial nerve, Abnormality of the shoulder girdle musculature, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the skull, Abnormality of the talus, Abnormality of the tarsal bones, Abnormality of the testis, Abnormality of the thorax, Abnormality of the thumb, Abnormality of the upper limb, Abnormality of the vertebral column, Abnormality of the wrist, Abnormal joint morphology, Abnormal muscle tone, Abnormal palmar dermatoglyphics, Absent distal interphalangeal creases, Absent phalangeal crease, Adducted thumb, All, Amyotrophy, Aplasia/Hypoplasia affecting bones of the axial skeleton, Aplasia/Hypoplasia involving bones of the skull, Aplasia/Hypoplasia involving the skeleton, Aplasia/Hypoplasia of the mandible, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Calcaneovalgus deformity, Camptodactyly of finger, Cognitive impairment, Congenital contractures, Congenital hip dislocation, Contractures of the joints of the lower limbs, Contractures of the joints of the upper limbs, Cranial nerve paralysis, Cryptorchidism, Decreased facial expression, Decreased hip abduction, Deviation of the hand or of fingers of the hand, Difficulty walking, Downslanted palpebral fissures, Elbow flexion contracture, Facial diplegia, Facial palsy, Flexion contracture, Flexion contracture of finger, Functional motor problems., Functional respiratory abnormality, Gait disturbance, Global developmental delay, Gower sign, Growth abnormality, Growth delay, Hand clenching, Heterogeneous, High palate, Hip contracture, Hip dislocation, Hyporeflexia, Joint contracture of the hand, Joint dislocation, Joint stiffness, Kyphoscoliosis, Kyphosis, Limb joint contracture, Limb muscle weakness, Limitation of joint mobility, Limited elbow movement, Limited hip movement, Long philtrum, Mandibular prognathia, Metatarsus adductus, Micrognathia, Mode of inheritance, Motor delay, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber inclusion bodies, Muscle weakness, Muscular hypotonia, Myopathic facies, Narrow mouth, Narrow palate, Neck muscle weakness, Nemaline bodies, Onset and clinical course, Phenotypic abnormality, Phenotypic variability, Positional foot deformities, Prominent nasolabial fold, Proximal muscle weakness, Reduced tendon reflexes, Reduced vital capacity, Regional abnormality of skin, Scapular winging, Scoliosis, Short stature, Single transverse palmar crease, Slanting of the palpebral fissure, Stiff shoulders, Talipes, Talipes equinovarus, Triangular face, Trismus, Type 1 muscle fiber predominance, Ulnar deviation of the hand or of fingers of the hand, Ulnar deviation of the wrist, Variable expressivity, Vertical talus, Waddling gait, Webbed neck, Wide nasal bridge, Widening of cervical spinal canal.
Orthologs in other species | |||||||||
---|---|---|---|---|---|---|---|---|---|
M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
--- | Tm2 | lev-11 | Sp-Tropmy1 |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
TPM2 | ACTN1 | 0.944199054 | TPM2 | ACTN1 | cpx78 | no | yes | no | Known |
TPM2 | ACTN4 | 0.978460197 | TPM2 | ACTN4 | cpx78 | no | yes | no | Known |
TPM2 | CKMT1B | 0.991252381 | TPM2 | CKMT1B | cpx728 | no | yes | no | Known |
TNNI1 | TPM2 | 0.927431991 | TNNI1 | TPM2 | cpx111; cpx78 | no | yes | no | Known |
ACTN2 | TPM2 | 0.965456147 | ACTN2 | TPM2 | cpx111 | no | yes | no | Known |
MYH6 | TPM2 | 0.999997731 | MYH6 | TPM2 | cpx111; cpx78 | no | no | no | Novel |
MYH7 | TPM2 | 0.999996877 | MYH7 | TPM2 | cpx111 | no | no | no | Novel |
MYH3 | TPM2 | 0.99999781 | MYH3 | TPM2 | cpx78; cpx111 | no | no | no | Novel |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
---|---|---|---|---|
BCAP31 | TPM2 | 0.075683487 | BCAP31 | TPM2 |
CAPZB | TPM2 | 0.076294321 | CAPZB | TPM2 |
ATP5F1 | TPM2 | 0.200431068 | ATP5F1 | TPM2 |
COX4I1 | TPM2 | 0.342036679 | COX4I1 | TPM2 |
NDUFB10 | TPM2 | 0.192883982 | NDUFB10 | TPM2 |
TPM2 | PSMD5 | 0.122320043 | TPM2 | PSMD5 |
SLC4A1AP | TPM2 | 0.090309215 | SLC4A1AP | TPM2 |
MYL6 | TPM2 | 0.070771383 | MYL6 | TPM2 |
UQCRC2 | TPM2 | 0.089678308 | UQCRC2 | TPM2 |
SSB | TPM2 | 0.134710898 | SSB | TPM2 |
CCAR1 | TPM2 | 0.080226499 | CCAR1 | TPM2 |
SUB1 | TPM2 | 0.079936 | SUB1 | TPM2 |
STMN1 | TPM2 | 0.154693197 | STMN1 | TPM2 |